format-version: 1.2 data-version: hp/releases/2025-05-06 subsetdef: hposlim_core "Core clinical terminology" subsetdef: secondary_consequence "Consequence of a disorder in another organ system." synonymtypedef: abbreviation "abbreviation" synonymtypedef: HP:0034334 "allelic_requirement" synonymtypedef: layperson "layperson term" synonymtypedef: obsolete_synonym "discarded/obsoleted synonym" synonymtypedef: plural_form "plural form" synonymtypedef: uk_spelling "UK spelling" default-namespace: human_phenotype idspace: dc http://purl.org/dc/elements/1.1/ idspace: oboInOwl http://www.geneontology.org/formats/oboInOwl# idspace: terms http://purl.org/dc/terms/ remark: Please see license of HPO at http://www.human-phenotype-ontology.org ontology: hp.obo property_value: dc:creator "Human Phenotype Ontology Consortium" xsd:string property_value: dc:creator "Monarch Initiative" xsd:string property_value: dc:creator "Peter Robinson" xsd:string property_value: dc:creator "Sebastian Köhler" xsd:string property_value: dc:description "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease." xsd:string property_value: dc:rights "Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative" xsd:string property_value: dc:subject "Phenotypic abnormalities encountered in human disease" xsd:string property_value: dc:title "Human Phenotype Ontology" xsd:string property_value: IAO:0000700 HP:0000001 property_value: owl:versionInfo "2025-05-06" xsd:string property_value: terms:license https://hpo.jax.org/app/license logical-definition-view-relation: has_part [Term] id: HP:0000001 name: All comment: Root of all terms in the Human Phenotype Ontology. xref: UMLS:C0444868 [Term] id: HP:0000002 name: Abnormality of body height def: "Deviation from the norm of height with respect to that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of body height" EXACT layperson [] xref: UMLS:C4025901 is_a: HP:0001507 ! Growth abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T02:20:00Z [Term] id: HP:0000003 name: Multicystic kidney dysplasia alt_id: HP:0004715 def: "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [https://orcid.org/0000-0002-0736-9199] comment: Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. synonym: "Multicystic dysplastic kidney" EXACT [] synonym: "Multicystic kidneys" EXACT [] synonym: "Multicystic renal dysplasia" EXACT [] xref: SNOMEDCT_US:204962002 xref: SNOMEDCT_US:82525005 xref: UMLS:C3714581 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000005 name: Mode of inheritance alt_id: HP:0001425 alt_id: HP:0001453 alt_id: HP:0001461 alt_id: HP:0010985 def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [https://orcid.org/0000-0002-0736-9199] comment: While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation pipelines and to determine if a given variant in a specific context is relevant to the phenotype of the patient e.g. a heterozygous variant (in the absence of compound heterozygosity) is relevant for dominant but not for recessive disease; while inheritance is used for describing the mode of inheritance of a phenotype and is particularly applicable in the clinical setting for communicating recurrence risk, to guide family screening, and to guide reproductive advice. synonym: "Inheritance" EXACT [] xref: UMLS:C1708511 is_a: HP:0000001 ! All [Term] id: HP:0000006 name: Autosomal dominant inheritance alt_id: HP:0001415 alt_id: HP:0001447 alt_id: HP:0001448 alt_id: HP:0001451 alt_id: HP:0001452 alt_id: HP:0001455 alt_id: HP:0001456 alt_id: HP:0001463 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [https://orcid.org/0000-0002-0736-9199] synonym: "Autosomal dominant" EXACT [] synonym: "Autosomal dominant form" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Autosomal dominant type" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "monoallelic_autosomal" EXACT HP:0034334 [] xref: SNOMEDCT_US:263681008 xref: UMLS:C0443147 is_a: HP:0034345 ! Mendelian inheritance [Term] id: HP:0000007 name: Autosomal recessive inheritance alt_id: HP:0001416 alt_id: HP:0001526 alt_id: HP:0031362 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [https://orcid.org/0000-0002-0736-9199] synonym: "Autosomal recessive" EXACT [] synonym: "Autosomal recessive form" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Autosomal recessive predisposition" RELATED [] synonym: "biallelic_autosomal" EXACT HP:0034334 [] xref: SNOMEDCT_US:258211005 xref: UMLS:C0441748 xref: UMLS:C4020899 is_a: HP:0034345 ! Mendelian inheritance [Term] id: HP:0000008 name: Abnormal morphology of female internal genitalia def: "An abnormality of the female internal genitalia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of female internal genitalia" EXACT [] xref: UMLS:C4025900 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000009 name: Functional abnormality of the bladder alt_id: HP:0004424 alt_id: HP:0008731 def: "Dysfunction of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Poor bladder function" EXACT [] xref: UMLS:C3806583 is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000010 name: Recurrent urinary tract infections alt_id: HP:0000094 def: "Repeated infections of the urinary tract." [https://orcid.org/0000-0002-0736-9199] comment: The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. synonym: "Frequent urinary tract infections" EXACT layperson [] synonym: "Recurrent UTIs" EXACT abbreviation [] synonym: "Repeated bladder infections" EXACT layperson [] synonym: "Repeated urinary tract infections" EXACT layperson [] synonym: "Urinary tract infections" EXACT layperson [] synonym: "Urinary tract infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:197927001 xref: UMLS:C0262655 is_a: HP:0002719 ! Recurrent infections is_a: HP:0011277 ! Abnormality of the urinary system physiology [Term] id: HP:0000011 name: Neurogenic bladder def: "A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention." [https://orcid.org/0000-0002-0736-9199, PMID:18095004, PMID:22400020] comment: Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. synonym: "Lack of bladder control due to nervous system injury" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:397732007 xref: SNOMEDCT_US:398064005 xref: UMLS:C0005697 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000012 name: Urinary urgency def: "Urge incontinence is the strong, sudden need to urinate." [https://orcid.org/0000-0002-0736-9199, PMID:12559262] comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. synonym: "Overactive bladder" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Overactive bladder syndrome" RELATED [] synonym: "Urgency frequency syndrome" RELATED [] synonym: "Urgent micturition" EXACT [] synonym: "Urinary urgency" EXACT layperson [] xref: SNOMEDCT_US:75088002 xref: UMLS:C0085606 xref: UMLS:C3544092 xref: UMLS:C4020898 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000013 name: Hypoplasia of the uterus alt_id: HP:0001154 alt_id: HP:0008637 def: "Underdevelopment of the uterus." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic uterus" EXACT [] synonym: "Rudimentary uterus" EXACT [] synonym: "Small uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:35850006 xref: UMLS:C0266399 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000014 name: Abnormality of the bladder def: "An abnormality of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0149632 is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000015 name: Bladder diverticulum def: "Diverticulum (sac or pouch) in the wall of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Bladder diverticula" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:197866008 xref: UMLS:C0156273 is_a: HP:0025487 ! Abnormal bladder morphology [Term] id: HP:0000016 name: Urinary retention def: "Inability to completely empty the urinary bladder during the process of urination." [https://orcid.org/0000-0002-0736-9199] comment: Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. synonym: "Increased post-void residual urine volume" EXACT [] xref: SNOMEDCT_US:130951007 xref: SNOMEDCT_US:267064002 xref: SNOMEDCT_US:449491000124101 xref: UMLS:C0080274 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000017 name: Nocturia def: "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [https://orcid.org/0009-0006-4530-3154] comment: Often occurring as a result of heart insufficiency. synonym: "Nycturia" EXACT [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:139394000 xref: UMLS:C0028734 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000019 name: Urinary hesitancy def: "Difficulty in beginning the process of urination." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty with flow" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:5972002 xref: UMLS:C0152032 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000020 name: Urinary incontinence alt_id: HP:0006942 alt_id: HP:0008681 def: "Loss of the ability to control the urinary bladder leading to involuntary urination." [https://orcid.org/0009-0006-4530-3154, PMID:12559262] comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. synonym: "Bladder incontinence" EXACT [] synonym: "Loss of bladder control" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:165232002 xref: UMLS:C0042024 is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0031064 ! Impaired continence [Term] id: HP:0000021 name: Megacystis alt_id: HP:0002838 def: "Dilatation of the bladder postnatally." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855311 is_a: HP:0010955 ! Dilatation of the bladder [Term] id: HP:0000022 name: Abnormal male internal genitalia morphology def: "An abnormality of the male internal genitalia." [https://orcid.org/0000-0002-0736-9199] comment: The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. xref: UMLS:C4025899 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000023 name: Inguinal hernia def: "Protrusion of the contents of the abdominal cavity through the inguinal canal." [https://orcid.org/0000-0002-0736-9199] comment: Inguinal hernia appears as a bulge in the groin. subset: hposlim_core xref: MEDDRA:10022016 "Inguinal hernia" xref: SNOMEDCT_US:396232000 xref: UMLS:C0019294 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0000024 name: Prostatitis def: "The presence of inflammation of the prostate." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of the prostate" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:9713002 xref: UMLS:C0033581 is_a: HP:0008775 ! Abnormal prostate morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000025 name: Functional abnormality of male internal genitalia xref: UMLS:C4025898 is_a: HP:0012874 ! Abnormal male reproductive system physiology [Term] id: HP:0000026 name: Male hypogonadism alt_id: HP:0008649 def: "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased function of male gonad" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:48723006 xref: UMLS:C0151721 is_a: HP:0000025 ! Functional abnormality of male internal genitalia is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000027 name: Azoospermia def: "Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet." [https://orcid.org/0000-0002-0736-9199, PMID:20514278] synonym: "Absent sperm in semen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:425558002 xref: SNOMEDCT_US:48188009 xref: UMLS:C0004509 is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000028 name: Cryptorchidism alt_id: HP:0000797 def: "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. synonym: "Cryptorchism" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Undescended testes" EXACT layperson [] synonym: "Undescended testis" EXACT layperson [] xref: Fyler:4493 xref: SNOMEDCT_US:204878001 xref: UMLS:C0010417 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000029 name: Testicular atrophy def: "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [https://orcid.org/0000-0002-0736-9199] synonym: "Testicular degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:17585008 xref: UMLS:C0156312 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000030 name: Testicular gonadoblastoma def: "The presence of a gonadoblastoma of the testis." [https://orcid.org/0000-0002-0736-9199] synonym: "Gonadoblastoma, male" RELATED [] xref: NCIT:C3754 xref: UMLS:C1515283 is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0010788 ! Testicular neoplasm [Term] id: HP:0000031 name: Epididymitis def: "The presence of inflammation of the epididymis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:31070006 xref: UMLS:C0014534 is_a: HP:0009714 ! Abnormal epididymis morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000032 name: Abnormal male external genitalia morphology def: "Any structural abnormality of male external genitalia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of male external genitalia" EXACT [] xref: UMLS:C4025897 is_a: HP:0000811 ! Abnormal external genitalia morphology is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000033 name: Ambiguous genitalia, male def: "Ambiguous genitalia in an individual with XY genetic gender." [https://orcid.org/0000-0002-0736-9199] synonym: "Ambiguous genitalia in males" EXACT layperson [] xref: UMLS:C4021823 is_a: HP:0000032 ! Abnormal male external genitalia morphology is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000034 name: Hydrocele testis def: "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [PMID:32644551] synonym: "Hydrocele" BROAD [] synonym: "Testicular hydrocele" EXACT [] xref: SNOMEDCT_US:26614003 xref: SNOMEDCT_US:386152007 xref: SNOMEDCT_US:55434001 xref: UMLS:C1720771 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000035 name: Abnormal testis morphology def: "An anomaly of the testicle (the male gonad)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the testis" EXACT layperson [] synonym: "Anomaly of the testes" EXACT [] xref: SNOMEDCT_US:55631001 xref: UMLS:C0266423 is_a: HP:0000032 ! Abnormal male external genitalia morphology [Term] id: HP:0000036 name: Abnormal penis morphology def: "Abnormality of the male external sex organ." [] synonym: "Abnormality of the penis" EXACT layperson [] xref: UMLS:C4025896 is_a: HP:0000032 ! Abnormal male external genitalia morphology [Term] id: HP:0000037 name: Male pseudohermaphroditism def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111332007 xref: UMLS:C0238395 is_a: HP:0000032 ! Abnormal male external genitalia morphology [Term] id: HP:0000039 name: Epispadias def: "Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias." [https://orcid.org/0000-0002-0736-9199, PMID:23650202, PMID:33085327] comment: Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. xref: SNOMEDCT_US:406477003 xref: UMLS:C0563449 is_a: HP:0100627 ! Displacement of the urethral meatus [Term] id: HP:0000040 name: Long penis def: "Penile length more than 2 SD above the mean for age." [] comment: Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. synonym: "Enlarged penis" EXACT layperson [] synonym: "Long penis" EXACT layperson [] xref: SNOMEDCT_US:88673001 xref: UMLS:C0269011 is_a: HP:0000036 ! Abnormal penis morphology [Term] id: HP:0000041 name: Chordee def: "Ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees." [https://orcid.org/0000-0002-0736-9199, PMID:23650202, PMID:29570261] comment: The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. xref: SNOMEDCT_US:4287008 xref: UMLS:C0221182 is_a: HP:0000036 ! Abnormal penis morphology [Term] id: HP:0000042 name: Absent external genitalia def: "Lack of external genitalia in a male or female individual." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent external genitalia" EXACT layperson [] xref: UMLS:C1848869 is_a: HP:0000811 ! Abnormal external genitalia morphology [Term] id: HP:0000044 name: Hypogonadotropic hypogonadism alt_id: HP:0003335 alt_id: HP:0008224 def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [https://orcid.org/0000-0002-0736-9199, PMID:23503957] synonym: "Hypogonadotrophic hypogonadism" EXACT [] synonym: "Isolated hypogonadotropic hypogonadism" RELATED [] synonym: "Low gonadotropins (secondary hypogonadism)" EXACT [] xref: SNOMEDCT_US:33927004 xref: UMLS:C0271623 xref: UMLS:C3489396 is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000045 name: Abnormal scrotum morphology def: "Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord." [] synonym: "Abnormality of the scrotum" EXACT [] xref: UMLS:C4025895 is_a: HP:0000032 ! Abnormal male external genitalia morphology [Term] id: HP:0000046 name: Small scrotum alt_id: HP:0030276 def: "Apparently small scrotum for age." [PMID:23650202] comment: A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. synonym: "Hypoplastic scrotum" EXACT [] synonym: "Scrotal hypoplasia" EXACT [] synonym: "Smaller than typical growth of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Underdeveloped scrotum" EXACT layperson [] xref: SNOMEDCT_US:204912007 xref: UMLS:C0431659 is_a: HP:0000045 ! Abnormal scrotum morphology is_a: HP:0000050 ! Hypoplastic male external genitalia [Term] id: HP:0000047 name: Hypospadias def: "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [https://orcid.org/0000-0002-0736-9199, PMID:21968448] synonym: "Hypospadia" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4504 xref: SNOMEDCT_US:204888000 xref: UMLS:C1691215 is_a: HP:0100627 ! Displacement of the urethral meatus [Term] id: HP:0000048 name: Bifid scrotum def: "Midline indentation or cleft of the scrotum." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: A testis may or may not be present in each half of the scrotum. synonym: "Cleft of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Scrotal cleft" EXACT [] xref: SNOMEDCT_US:236780002 xref: UMLS:C0341787 is_a: HP:0000045 ! Abnormal scrotum morphology [Term] id: HP:0000049 name: Shawl scrotum def: "Superior margin of the scrotum superior to the base of the penis." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. synonym: "Overriding scrotum" EXACT [] synonym: "Scrotum surrounds penis" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1858539 is_a: HP:0000045 ! Abnormal scrotum morphology [Term] id: HP:0000050 name: Hypoplastic male external genitalia alt_id: HP:0008710 alt_id: HP:0008721 def: "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic male genitalia" EXACT [] synonym: "Small male external genitalia" EXACT layperson [] synonym: "Underdeveloped male genitalia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1852534 is_a: HP:0000032 ! Abnormal male external genitalia morphology is_a: HP:0003241 ! External genital hypoplasia [Term] id: HP:0000051 name: Perineal hypospadias def: "Hypospadias with location of the urethral meatus in the perineal region." [https://orcid.org/0000-0002-0736-9199, PMID:8097257] xref: SNOMEDCT_US:204890004 xref: UMLS:C0452148 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000052 name: Urethral atresia, male def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025894 is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000053 name: Macroorchidism def: "The presence of abnormally large testes." [https://orcid.org/0000-0002-0736-9199] synonym: "Large testicles" EXACT [] synonym: "Large testis" EXACT layperson [] xref: UMLS:C1263023 is_a: HP:0045058 ! Abnormality of the testis size [Term] id: HP:0000054 name: Micropenis alt_id: HP:0000038 def: "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [https://orcid.org/0000-0002-0736-9199, PMID:15102623] synonym: "Short penis" EXACT layperson [] synonym: "Small penis" EXACT layperson [] xref: SNOMEDCT_US:34911001 xref: UMLS:C4551492 is_a: HP:0008736 ! Hypoplasia of penis [Term] id: HP:0000055 name: Abnormal female external genitalia morphology def: "Any structural abnormality of the female external genitalia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal female external genitalia" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of female external genitalia" EXACT [] xref: UMLS:C4021822 is_a: HP:0000811 ! Abnormal external genitalia morphology is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000056 name: Abnormal clitoris morphology def: "Any structural abnormality of the clitoris." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the clit" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the clitoris" EXACT [] xref: UMLS:C4025893 is_a: HP:0000055 ! Abnormal female external genitalia morphology [Term] id: HP:0000057 name: obsolete Clitoromegaly is_obsolete: true replaced_by: HP:0008665 [Term] id: HP:0000058 name: Abnormal labia morphology def: "An anomaly of the labia, the externally visible portions of the vulva." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the labia" EXACT [] xref: UMLS:C4025892 is_a: HP:0000055 ! Abnormal female external genitalia morphology [Term] id: HP:0000059 name: Hypoplastic labia majora def: "Undergrowth of the outer labia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT layperson [] synonym: "Underdeveloped vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:289469003 xref: UMLS:C0566899 is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012881 ! Abnormal labia majora morphology [Term] id: HP:0000060 name: Clitoral hypoplasia def: "Developmental hypoplasia of the clitoris." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic clitoris" EXACT [] synonym: "Small clitoris" EXACT layperson [] synonym: "Underdeveloped clit" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1844527 is_a: HP:0012815 ! Hypoplastic female external genitalia is_a: HP:0040255 ! Aplasia/Hypoplasia of the clitoris [Term] id: HP:0000061 name: Ambiguous genitalia, female alt_id: HP:0008690 def: "Ambiguous genitalia in an individual with XX genetic gender." [https://orcid.org/0000-0002-0736-9199] synonym: "Ambiguous genitalia due to virilization" RELATED [] synonym: "Atypical appearance of female genitals" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1859980 xref: UMLS:C4025891 is_a: HP:0000055 ! Abnormal female external genitalia morphology is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000062 name: Ambiguous genitalia alt_id: HP:0008685 alt_id: HP:0008693 def: "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [https://orcid.org/0000-0002-0736-9199, PMID:15102623] comment: Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. synonym: "Ambiguous external genitalia" EXACT layperson [] synonym: "Ambiguous external genitalia at birth" EXACT layperson [] synonym: "Intersex genitalia" EXACT layperson [] xref: SNOMEDCT_US:21321009 xref: UMLS:C0266362 is_a: HP:0000811 ! Abnormal external genitalia morphology [Term] id: HP:0000063 name: Fused labia minora def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused inner lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837532 is_a: HP:0012880 ! Abnormal labia minora morphology [Term] id: HP:0000064 name: Hypoplastic labia minora synonym: "Underdeveloped inner lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849295 is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012880 ! Abnormal labia minora morphology [Term] id: HP:0000065 name: Labial hypertrophy synonym: "Enlarged vaginal lips" EXACT [] synonym: "Enlargement of the labia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlargement of the vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:16924008 xref: UMLS:C0404531 is_a: HP:0000058 ! Abnormal labia morphology [Term] id: HP:0000066 name: Labial hypoplasia synonym: "Hypoplastic labia" EXACT [] synonym: "Underdeveloped labia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1850325 is_a: HP:0000058 ! Abnormal labia morphology is_a: HP:0012815 ! Hypoplastic female external genitalia [Term] id: HP:0000067 name: Urethral atresia, female def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025890 is_a: HP:0000055 ! Abnormal female external genitalia morphology is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000068 name: Urethral atresia def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent urethral opening" EXACT [] synonym: "Urethral opening absent" EXACT [] xref: UMLS:C1610065 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000069 name: Abnormality of the ureter alt_id: HP:0006001 def: "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the ureters" EXACT [] synonym: "Ureter issue" EXACT [] synonym: "Ureteral anomalies" EXACT [] xref: UMLS:C1840382 is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000070 name: Ureterocele def: "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993] xref: SNOMEDCT_US:12818004 xref: UMLS:C0041960 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000071 name: Ureteral stenosis def: "The presence of a stenotic, i.e., constricted ureter." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of the ureter" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ureteric stenosis" EXACT [] xref: SNOMEDCT_US:95574003 xref: UMLS:C0521618 is_a: HP:0006000 ! Ureteral obstruction [Term] id: HP:0000072 name: Hydroureter alt_id: HP:0006003 def: "The distention of the ureter with urine." [https://orcid.org/0000-0002-0736-9199, PMID:33085364] synonym: "Dilated ureter" EXACT [] synonym: "Megaureter" EXACT [] synonym: "Swelling of ureter" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Ureteral dilatation" EXACT [] synonym: "Uroureter" RELATED [] synonym: "Wide ureter" EXACT [] xref: SNOMEDCT_US:69758005 xref: SNOMEDCT_US:95576001 xref: UMLS:C0521620 xref: UMLS:C4020897 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000073 name: Ureteral duplication def: "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Double ureter" EXACT layperson [] xref: SNOMEDCT_US:49496001 xref: UMLS:C0221365 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000074 name: Ureteropelvic junction obstruction def: "Blockage of urine flow from the renal pelvis to the proximal ureter." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Pelviureteric junction obstruction" EXACT [] synonym: "Ureteropelvic junction stenosis" EXACT [] xref: SNOMEDCT_US:95575002 xref: UMLS:C0521619 is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0000075 name: Renal duplication def: "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Supernumerary kidney" RELATED [] xref: SNOMEDCT_US:30275001 xref: UMLS:C0266298 is_a: HP:0005217 ! Abdominal organ duplication is_a: HP:0012210 ! Abnormal renal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000076 name: Vesicoureteral reflux alt_id: HP:0005998 alt_id: HP:0006002 alt_id: HP:0008667 def: "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [https://orcid.org/0000-0002-0736-9199] synonym: "Ureteral reflux" EXACT [] synonym: "Ureteric reflux" EXACT [] synonym: "Vesico-ureteral reflux" EXACT [] synonym: "Vesicoureteric reflux" EXACT [] synonym: "VUR" EXACT abbreviation [] xref: Fyler:4510 xref: SNOMEDCT_US:197811007 xref: UMLS:C0042580 is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0025634 ! Abnormal ureter physiology [Term] id: HP:0000077 name: Abnormality of the kidney def: "An abnormality of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: The kidney is a paired organ whose primary function is the production of urine. synonym: "Abnormal kidney" EXACT layperson [] synonym: "Abnormality of the kidney" EXACT layperson [] synonym: "Renal anomalies" EXACT [] synonym: "Renal anomaly" EXACT [] xref: SNOMEDCT_US:44513007 xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 xref: UMLS:C0266292 is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000078 name: Abnormality of the genital system def: "An abnormality of the genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the reproductive system" RELATED layperson [] synonym: "Genital abnormalities" EXACT layperson [] synonym: "Genital abnormality" EXACT layperson [] synonym: "Genital anomalies" EXACT layperson [] synonym: "Genital defects" EXACT layperson [] xref: UMLS:C0281966 xref: UMLS:C0744356 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000079 name: Abnormality of the urinary system def: "An abnormality of the urinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "Urinary tract abnormalities" EXACT layperson [] synonym: "Urinary tract abnormality" EXACT layperson [] synonym: "Urinary tract anomalies" EXACT layperson [] xref: UMLS:C4021821 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000080 name: Abnormality of reproductive system physiology def: "An abnormal functionality of the genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of genital physiology" BROAD layperson [] synonym: "Abnormality of reproductive system physiology" EXACT layperson [] synonym: "Genital functional abnormality" EXACT layperson [] xref: UMLS:C4020896 xref: UMLS:C4021820 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000081 name: Duplicated collecting system def: "A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice." [https://orcid.org/0000-0002-0736-9199] synonym: "Double collecting system" EXACT [] synonym: "Double urinary collecting systems on intravenous pyelography" EXACT [] synonym: "Duplex collecting system" EXACT [] synonym: "Duplicated renal collecting system" EXACT [] xref: UMLS:C1858565 is_a: HP:0004742 ! Abnormal renal collecting system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000083 name: Renal insufficiency alt_id: HP:0000084 alt_id: HP:0004723 def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [https://orcid.org/0000-0002-0736-9199] synonym: "Renal failure" EXACT layperson [] synonym: "Renal failure in adulthood" EXACT layperson [] xref: SNOMEDCT_US:236423003 xref: SNOMEDCT_US:42399005 xref: UMLS:C0035078 xref: UMLS:C1565489 xref: UMLS:C1839604 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000085 name: Horseshoe kidney def: "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused kidneys" BROAD [] synonym: "Horseshoe kidney" EXACT layperson [] synonym: "Horseshoe kidneys" EXACT layperson [] xref: Fyler:4507 xref: SNOMEDCT_US:41729002 xref: UMLS:C0221353 is_a: HP:0100542 ! Abnormal localization of kidney [Term] id: HP:0000086 name: Ectopic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal kidney location" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Displaced kidney" EXACT layperson [] synonym: "Ectopic kidneys" EXACT [] synonym: "Renal ectopia" EXACT [] xref: SNOMEDCT_US:16507009 xref: UMLS:C0238207 is_a: HP:0100542 ! Abnormal localization of kidney [Term] id: HP:0000089 name: Renal hypoplasia alt_id: HP:0001968 alt_id: HP:0004741 alt_id: HP:0008641 def: "Hypoplasia of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. synonym: "Hypoplastic kidney" EXACT [] synonym: "Hypoplastic kidneys" EXACT [] synonym: "Small kidneys" EXACT layperson [] synonym: "Underdeveloped kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:32659003 xref: UMLS:C0266295 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000090 name: Nephronophthisis alt_id: HP:0004748 def: "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] comment: Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. synonym: "juvenile nephronophthisis" EXACT [] xref: SNOMEDCT_US:204958008 xref: UMLS:C0687120 is_a: HP:0100957 ! Abnormal renal medulla morphology [Term] id: HP:0000091 name: Abnormal renal tubule morphology def: "An abnormality of the renal tubules." [https://orcid.org/0000-0002-0736-9199] comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. synonym: "Abnormality of the renal tubule" EXACT [] synonym: "Morphologic abnormality of the renal tubules" EXACT [] xref: UMLS:C4021826 is_a: HP:0012575 ! Abnormal nephron morphology [Term] id: HP:0000092 name: Renal tubular atrophy alt_id: HP:0005578 def: "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules." [https://orcid.org/0000-0002-0736-9199, PMID:27211375] comment: Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis. synonym: "Renal tubular cell atrophy" EXACT [] synonym: "Tubular atrophy" EXACT [] xref: UMLS:C1858395 is_a: HP:0032599 ! Abnormal renal tubular epithelial morphology [Term] id: HP:0000093 name: Proteinuria def: "Increased levels of protein in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine protein levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Protein in urine" EXACT layperson [] xref: SNOMEDCT_US:29738008 xref: UMLS:C0033687 is_a: HP:0020129 ! Abnormal urine protein level [Term] id: HP:0000095 name: Abnormal renal glomerulus morphology def: "A structural anomaly of the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, PMID:18184729] comment: Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. synonym: "Abnormality of renal glomerulus morphology" EXACT [] synonym: "Morphologic abnormality of the renal glomerulus" EXACT [] xref: UMLS:C4025889 is_a: HP:0031263 ! Abnormal renal corpuscle morphology [Term] id: HP:0000096 name: Glomerular sclerosis alt_id: HP:0030761 def: "Accumulation of scar tissue within the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Glomerulosclerosis" EXACT [] synonym: "Renal glomerular fibrosis" BROAD [] xref: SNOMEDCT_US:197661001 xref: SNOMEDCT_US:82646005 xref: UMLS:C0178664 is_a: HP:0000095 ! Abnormal renal glomerulus morphology [Term] id: HP:0000097 name: Focal segmental glomerulosclerosis alt_id: HP:0004747 def: "Segmental accumulation of scar tissue in individual (but not all) glomeruli." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:16164633] comment: Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries with hyalinosis and intracapillary foam cells, formation of adhesions between the glomerular tuft and Bowman's capsule, and podocyte hypertrophy. FSGS is not a disease entity, but rather a pattern of injury with quite diverse clinical behavior, morphology, and possibly also pathogenesis. synonym: "Focal and segmental glomerular sclerosis" EXACT [] synonym: "Focal and segmental glomerulosclerosis" EXACT [] synonym: "focal glomerulosclerosis" EXACT [] xref: SNOMEDCT_US:236403004 xref: SNOMEDCT_US:25821008 xref: UMLS:C0017668 is_a: HP:0000096 ! Glomerular sclerosis [Term] id: HP:0000098 name: Tall stature alt_id: HP:0001527 alt_id: HP:0003515 alt_id: HP:0003516 def: "A height above that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Accelerated linear growth" EXACT [] synonym: "Increased body height" EXACT layperson [] synonym: "Increased linear growth" EXACT [] synonym: "Tall stature" EXACT layperson [] xref: SNOMEDCT_US:248328003 xref: UMLS:C0241240 is_a: HP:0000002 ! Abnormality of body height property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T02:21:00Z [Term] id: HP:0000099 name: Glomerulonephritis def: "Inflammation of the renal glomeruli." [https://orcid.org/0000-0002-0736-9199] synonym: "Glomerular nephritis" EXACT [] xref: SNOMEDCT_US:36171008 xref: UMLS:C0017658 is_a: HP:0000095 ! Abnormal renal glomerulus morphology is_a: HP:0000123 ! Nephritis [Term] id: HP:0000100 name: Nephrotic syndrome alt_id: HP:0000801 alt_id: HP:0004718 alt_id: HP:0008638 alt_id: HP:0008727 def: "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [https://orcid.org/0000-0002-0736-9199] comment: In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. synonym: "Nephrosis" EXACT [] xref: SNOMEDCT_US:52254009 xref: UMLS:C0027726 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000103 name: Polyuria alt_id: HP:0200060 def: "An increased rate of urine production." [https://orcid.org/0000-0002-0736-9199] comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day. synonym: "Increased urine output" EXACT layperson [] xref: SNOMEDCT_US:28442001 xref: SNOMEDCT_US:56574000 xref: SNOMEDCT_US:718402002 xref: UMLS:C0032617 is_a: HP:0012590 ! Abnormal urine output [Term] id: HP:0000104 name: Renal agenesis alt_id: HP:0000785 alt_id: HP:0004745 alt_id: HP:0008680 def: "Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [https://orcid.org/0000-0002-0736-9199] comment: Renal agenesis can occur as a unilateral or bilateral trait. synonym: "Absent kidney" EXACT layperson [] synonym: "Missing kidney" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Renal aplasia" EXACT [] xref: Fyler:4503 xref: SNOMEDCT_US:204942005 xref: UMLS:C0542519 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000105 name: Enlarged kidney def: "An abnormal increase in the size of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilms tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. synonym: "Enlarged kidney" EXACT layperson [] synonym: "Large kidney" RELATED [] synonym: "Large kidneys" EXACT layperson [] synonym: "Nephromegaly" EXACT [] synonym: "Renal enlargement" EXACT [] xref: SNOMEDCT_US:300444006 xref: UMLS:C0542518 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000107 name: Renal cyst alt_id: HP:0000088 alt_id: HP:0000109 def: "A fluid filled sac in the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Cystic kidney disease" RELATED layperson [] synonym: "Cystic kidneys" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Kidney cyst" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Renal cysts" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0022679 xref: UMLS:C3887499 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000108 name: Renal corticomedullary cysts def: "The presence of multiple cysts at the border between the renal cortex and medulla." [https://orcid.org/0000-0002-0736-9199] synonym: "Corticomedullary renal cysts" EXACT [] synonym: "Renal corticomedullary cystic disease" RELATED [] xref: UMLS:C1968619 is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormal renal cortex morphology is_a: HP:0100957 ! Abnormal renal medulla morphology [Term] id: HP:0000110 name: Renal dysplasia alt_id: HP:0000116 alt_id: HP:0004721 def: "The presence of developmental dysplasia of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Dysplastic kidneys" EXACT [] synonym: "Renal adysplasia" EXACT [] xref: SNOMEDCT_US:204949001 xref: UMLS:C1619700 xref: UMLS:C3536714 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000111 name: Renal juxtaglomerular cell hypertrophy/hyperplasia def: "Increased number and size of the juxtaglomerular cells." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: UMLS:C1866496 is_a: HP:0000095 ! Abnormal renal glomerulus morphology [Term] id: HP:0000112 name: Nephropathy def: "A nonspecific term referring to disease or damage of the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney damage" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Kidney disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 xref: UMLS:C1408258 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000113 name: Polycystic kidney dysplasia alt_id: HP:0004716 alt_id: HP:0004739 alt_id: HP:0004740 alt_id: HP:0008645 alt_id: HP:0008673 alt_id: HP:0008699 def: "The presence of multiple cysts in both kidneys." [https://orcid.org/0000-0002-0736-9199] comment: Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. synonym: "Polycystic kidney disease" RELATED [] synonym: "Polycystic kidneys" EXACT [] xref: Fyler:4508 xref: SNOMEDCT_US:82525005 xref: UMLS:C0022680 xref: UMLS:C1567435 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000114 name: Proximal tubulopathy alt_id: HP:0000806 def: "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle." [https://orcid.org/0000-0002-0736-9199] synonym: "Proximal renal tubule defect" EXACT [] synonym: "Proximal renal tubulopathy" EXACT [] synonym: "Proximal tubular defect" EXACT [] synonym: "Proximal tubule dysfunction" EXACT [] synonym: "Selective proximal tubular damage" EXACT [] xref: UMLS:C1839603 is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0000117 name: Renal phosphate wasting def: "High urine phosphate in the presence of hypophosphatemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased renal tubular phosphate reabsorption" EXACT [] synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate" EXACT [] synonym: "Tubular phosphate reabsorption low" EXACT [] xref: UMLS:C1845169 is_a: HP:0012599 ! Abnormal urine phosphate concentration [Term] id: HP:0000118 name: Phenotypic abnormality def: "A phenotypic abnormality." [https://orcid.org/0000-0002-0736-9199] comment: This is the root of the phenotypic abnormality subontology of the HPO. synonym: "Organ abnormality" EXACT [] xref: UMLS:C4021819 is_a: HP:0000001 ! All [Term] id: HP:0000119 name: Abnormality of the genitourinary system alt_id: HP:0008658 alt_id: HP:0008688 alt_id: HP:0008704 alt_id: HP:0008713 def: "The presence of any abnormality of the genitourinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the GU system" EXACT abbreviation [] synonym: "Genitourinary abnormality" EXACT [] synonym: "Genitourinary disease" RELATED [] synonym: "Genitourinary dysplasia" RELATED [] synonym: "Genitourinary tract anomalies" EXACT [] synonym: "Genitourinary tract malformation" EXACT [] synonym: "Urogenital abnormalities" EXACT [] synonym: "Urogenital anomalies" EXACT [] xref: SNOMEDCT_US:287085006 xref: SNOMEDCT_US:42030000 xref: UMLS:C0042063 xref: UMLS:C0080276 xref: UMLS:C4020895 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000121 name: Nephrocalcinosis def: "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [https://orcid.org/0000-0002-0736-9199] comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. synonym: "Increased calcium level in kidney" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Too much calcium deposited in kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:48638002 xref: UMLS:C0027709 xref: UMLS:C4280679 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000122 name: Unilateral renal agenesis def: "A unilateral form of agenesis of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent kidney on one side" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Missing one kidney" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Single kidney" EXACT layperson [] synonym: "Unilateral kidney agenesis" EXACT [] xref: Fyler:4509 xref: SNOMEDCT_US:55726006 xref: UMLS:C0266294 is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0000123 name: Nephritis alt_id: HP:0008634 def: "The presence of inflammation affecting the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney inflammation" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:52845002 xref: UMLS:C0027697 is_a: HP:0012211 ! Abnormal renal physiology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000124 name: Renal tubular dysfunction def: "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid." [] synonym: "Abnormal function of filtrating structures in kidney" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Renal tubular defect" EXACT [] synonym: "Renal tubular disease" RELATED [] xref: SNOMEDCT_US:95568003 xref: UMLS:C0151747 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000125 name: Pelvic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Sacral kidney" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:56108007 xref: UMLS:C0221209 is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0000126 name: Hydronephrosis def: "Severe distention of the kidney with dilation of the renal pelvis and calices." [https://orcid.org/0000-0002-0736-9199] comment: Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. xref: Fyler:4502 xref: SNOMEDCT_US:43064006 xref: UMLS:C0020295 is_a: HP:0010946 ! Dilatation of the renal pelvis [Term] id: HP:0000127 name: Renal salt wasting def: "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Loss of salt in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Renal salt-wasting" EXACT [] synonym: "Salt wasting" EXACT [] synonym: "Salt-wasting" EXACT [] xref: UMLS:C1846347 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration [Term] id: HP:0000128 name: Renal potassium wasting def: "High urine potassium in the presence of hypokalemia." [https://orcid.org/0000-0002-0736-9199] comment: A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. synonym: "Renal K wasting" EXACT abbreviation [] xref: UMLS:C1846348 is_a: HP:0012598 ! Abnormal urine potassium concentration [Term] id: HP:0000130 name: Abnormality of the uterus alt_id: HP:0008630 alt_id: HP:0008692 def: "An abnormality of the uterus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the uterus" EXACT layperson [] synonym: "Uterine abnormalities" EXACT layperson [] synonym: "Uterine malformations" EXACT layperson [] xref: SNOMEDCT_US:37849005 xref: UMLS:C0266383 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia [Term] id: HP:0000131 name: Uterine leiomyoma alt_id: HP:0008642 def: "The presence of a leiomyoma of the uterus." [https://orcid.org/0000-0002-0736-9199] comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells. synonym: "Benign uterine leiomyomas" EXACT [] synonym: "Uterine fibroid" EXACT [] xref: NCIT:C3157 xref: SNOMEDCT_US:146801000119103 xref: SNOMEDCT_US:44598004 xref: SNOMEDCT_US:95315005 xref: UMLS:C0042133 is_a: HP:0010784 ! Uterine neoplasm [Term] id: HP:0000132 name: Menorrhagia alt_id: HP:0100609 def: "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." [https://orcid.org/0000-0002-0736-9199, PMID:22594864] synonym: "Abnormally heavy bleeding during menstruation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormally heavy periods" EXACT layperson [] synonym: "Hypermenorrhea" EXACT [PMID:22594864] xref: SNOMEDCT_US:386692008 xref: UMLS:C0025323 is_a: HP:0000140 ! Abnormality of the menstrual cycle is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000133 name: Gonadal dysgenesis alt_id: HP:0003243 def: "Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen." [PMID:30969708] comment: Gonadal dysgenesis is a genetic condition due to errors in cell division and or alterations in genetic material, leading to complete or partial loss of gonadal development. The development of gonadal dysgenesis begins early either at fertilization or shortly after in the early stages of the embryo and fetus. synonym: "Mixed gonadal dysgenesis" EXACT [] synonym: "Pure gonadal dysgenesis" EXACT [] xref: SNOMEDCT_US:205681004 xref: SNOMEDCT_US:38804009 xref: SNOMEDCT_US:83579008 xref: SNOMEDCT_US:95219002 xref: UMLS:C0018051 xref: UMLS:C0018055 xref: UMLS:C0687149 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0000134 name: Female hypogonadism def: "Decreased functionality of the female gonads, i.e., of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypogonadism, female" EXACT [] xref: SNOMEDCT_US:16041008 xref: UMLS:C0271578 is_a: HP:0000135 ! Hypogonadism is_a: HP:0031066 ! Abnormal ovarian physiology [Term] id: HP:0000135 name: Hypogonadism def: "A decreased functionality of the gonad." [https://orcid.org/0000-0002-0736-9199] comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. synonym: "Decreased activity of gonads" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:48130008 xref: UMLS:C0020619 is_a: HP:0000080 ! Abnormality of reproductive system physiology is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000136 name: Bifid uterus def: "The presence of a bifid uterus." [https://orcid.org/0000-0002-0736-9199] comment: A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. xref: UMLS:C1850327 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0000137 name: Abnormality of the ovary def: "An abnormality of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the ovaries" EXACT layperson [] synonym: "Abnormality of the ovary" EXACT layperson [] synonym: "Ovarian disease" RELATED layperson [] xref: SNOMEDCT_US:5552004 xref: UMLS:C0029928 xref: UMLS:C4021818 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia [Term] id: HP:0000138 name: Ovarian cyst alt_id: HP:0000146 def: "The presence of one or more cysts of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Cystic abnormalities of the ovaries" EXACT [] synonym: "Cystic ovaries" EXACT [] synonym: "Ovarian cyst" EXACT layperson [] synonym: "Ovarian cystic abnormality" EXACT [] xref: SNOMEDCT_US:79883001 xref: UMLS:C0029927 is_a: HP:0031065 ! Abnormal ovarian morphology [Term] id: HP:0000139 name: Uterine prolapse alt_id: HP:0100824 def: "The presence of prolapse of the uterus." [https://orcid.org/0000-0002-0736-9199] comment: The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. synonym: "Sagging uterus" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:24976005 xref: UMLS:C0042140 is_a: HP:0031105 ! Abnormal uterus morphology is_a: HP:0100823 ! Genital hernia [Term] id: HP:0000140 name: Abnormality of the menstrual cycle def: "An abnormality of the ovulation cycle." [https://orcid.org/0000-0002-0736-9199, PMID:23281358] synonym: "Abnormality of the menstrual cycle" EXACT layperson [] synonym: "Menstrual abnormalities" RELATED layperson [] xref: UMLS:C3549779 xref: UMLS:C4025888 is_a: HP:0030012 ! Abnormal female reproductive system physiology [Term] id: HP:0000141 name: Amenorrhea def: "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months." [PMID:22594864] synonym: "Abnormal absence of menstruation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2219717 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000142 name: Abnormal vagina morphology alt_id: HP:0008650 def: "Any structural abnormality of the vagina." [https://orcid.org/0000-0002-0736-9199] synonym: "Vaginal malformation" EXACT [] xref: UMLS:C1856023 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia [Term] id: HP:0000143 name: Rectovaginal fistula def: "The presence of a fistula between the vagina and the rectum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal connection between rectum and vagina" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10051097 "Rectovaginal fistula" xref: SNOMEDCT_US:65619001 xref: UMLS:C0034895 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0100590 ! Rectal fistula [Term] id: HP:0000144 name: Decreased fertility synonym: "Abnormal fertility" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Decreased fertility" EXACT layperson [] xref: SNOMEDCT_US:17276009 xref: UMLS:C0520927 is_a: HP:0000080 ! Abnormality of reproductive system physiology [Term] id: HP:0000145 name: Transverse vaginal septum synonym: "Transverse vaginal membrane" EXACT [] xref: UMLS:C1856006 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0000147 name: Polycystic ovaries alt_id: HP:0008644 alt_id: HP:0008657 synonym: "Polycystic ovary" EXACT [] synonym: "Polycystic ovary disease" RELATED [] synonym: "Sclerocystic ovaries" EXACT [] xref: SNOMEDCT_US:69878008 xref: UMLS:C0032460 xref: UMLS:C1136382 is_a: HP:0000138 ! Ovarian cyst [Term] id: HP:0000148 name: Vaginal atresia def: "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormally closed or absent vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:87380008 xref: UMLS:C1321884 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0001827 ! Genital tract atresia [Term] id: HP:0000149 name: Ovarian gonadoblastoma def: "The presence of a gonadoblastoma of the ovary." [eMedicine:986581, https://orcid.org/0000-0002-0736-9199] comment: Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. synonym: "Gonadoblastoma, female" EXACT [] xref: NCIT:C3754 xref: SNOMEDCT_US:716594002 xref: UMLS:C1518716 is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0100615 ! Ovarian neoplasm [Term] id: HP:0000150 name: Gonadoblastoma alt_id: HP:0006745 def: "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3754 xref: SNOMEDCT_US:74751003 xref: UMLS:C0206661 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0100728 ! Germ cell neoplasia [Term] id: HP:0000151 name: Aplasia of the uterus def: "A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue." [] synonym: "Absent uterus" EXACT layperson [] synonym: "uterus absent" EXACT layperson [] xref: SNOMEDCT_US:248942000 xref: UMLS:C0425913 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000152 name: Abnormality of head or neck def: "An abnormality of head and neck." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of head or neck" EXACT layperson [] synonym: "Head and neck abnormality" EXACT layperson [] xref: UMLS:C4021817 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000153 name: Abnormality of the mouth def: "An abnormality of the mouth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal mouth" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the mouth" EXACT layperson [] xref: SNOMEDCT_US:128334002 xref: UMLS:C0026633 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000154 name: Wide mouth alt_id: HP:0000181 alt_id: HP:0002052 def: "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [PMID:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. subset: hposlim_core synonym: "Broad mouth" EXACT layperson [] synonym: "Large mouth" EXACT layperson [] synonym: "Large oral aperture" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Macrostomia" EXACT [] synonym: "Wide mouth" EXACT layperson [] xref: SNOMEDCT_US:40159009 xref: UMLS:C0024433 is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000155 name: Oral ulcer def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Mouth sore" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Mouth ulcer" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oral mucosal ulceration" EXACT [] xref: SNOMEDCT_US:26284000 xref: UMLS:C0149745 is_a: HP:0031446 ! Erosion of oral mucosa [Term] id: HP:0000157 name: Abnormality of the tongue def: "Any abnormality of the tongue." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal tongue" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the tongue" EXACT layperson [] synonym: "Glossal abnormality" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual abnormality" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tongue abnormality" EXACT layperson [] xref: UMLS:C0878638 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000158 name: Macroglossia alt_id: HP:0000203 def: "Increased length and width of the tongue." [PMID:19125428] comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. subset: hposlim_core synonym: "Abnormally large tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Glossal hypertrophy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of the tongue" EXACT [] synonym: "Hypertrophy of the tongue" EXACT [] synonym: "Increased size of tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large tongue" EXACT layperson [] synonym: "Lingual hyperplasia" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual hypertrophy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Tongue hypertrophy" EXACT [] xref: SNOMEDCT_US:25273001 xref: UMLS:C0024421 is_a: HP:0003712 ! Skeletal muscle hypertrophy is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000159 name: Abnormal lip morphology def: "An abnormality of the lip." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal lip" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the lip" EXACT layperson [] synonym: "Anomaly of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lip abnormality" EXACT layperson [] synonym: "Malformation of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2183966 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000160 name: Narrow mouth alt_id: HP:0002261 alt_id: HP:0009095 alt_id: HP:0009096 def: "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [PMID:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. subset: hposlim_core synonym: "Microstomia" EXACT [] synonym: "Narrow mouth" EXACT layperson [] synonym: "Small mouth" EXACT layperson [] synonym: "Small oral aperture" EXACT [] xref: SNOMEDCT_US:14582003 xref: UMLS:C0026034 is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000161 name: Median cleft upper lip def: "A type of cleft lip presenting as a midline (median) gap in the upper lip." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Central cleft upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midline cleft lip" EXACT [] xref: UMLS:C1850256 is_a: HP:0000204 ! Cleft upper lip [Term] id: HP:0000162 name: Glossoptosis def: "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. subset: hposlim_core synonym: "Lingual retraction" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Posterior displacement of the tongue" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Retraction of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:3639002 xref: UMLS:C0267048 xref: UMLS:C4280678 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000163 name: Abnormal oral cavity morphology def: "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the oral cavity" EXACT layperson [] xref: UMLS:C4025887 is_a: HP:0031816 ! Abnormal oral morphology [Term] id: HP:0000164 name: Abnormality of the dentition alt_id: HP:0001567 alt_id: HP:0006296 alt_id: HP:0006348 def: "Any abnormality of the teeth." [https://orcid.org/0000-0002-9338-3017] comment: Any abnormality of the primary (deciduous) or permanent teeth. subset: hposlim_core synonym: "Abnormal dentition" EXACT layperson [] synonym: "Abnormal teeth" EXACT layperson [] synonym: "Abnormality of the teeth" RELATED layperson [] synonym: "Dental abnormalities" EXACT plural_form [] synonym: "Dental abnormality" EXACT layperson [] synonym: "Dental anomalies" EXACT plural_form [] synonym: "Dental problem" RELATED layperson [] synonym: "Dental problems" RELATED plural_form [] synonym: "Tooth abnormalities" RELATED layperson [] xref: SNOMEDCT_US:422775003 xref: UMLS:C0040427 xref: UMLS:C0262444 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000166 name: Severe periodontitis def: "A severe form of periodontitis." [https://orcid.org/0000-0002-0736-9199] synonym: "Severe gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Severe periodontal disease" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Severe pyorrhea" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025886 is_a: HP:0000704 ! Periodontitis [Term] id: HP:0000168 name: Abnormality of the gingiva def: "Any abnormality of the gingiva (also known as gums)." [https://orcid.org/0000-0002-0736-9199] comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. subset: hposlim_core synonym: "Abnormality of the gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival abnormality" EXACT [] xref: UMLS:C4021816 is_a: HP:0011830 ! Abnormal oral mucosa morphology [Term] id: HP:0000169 name: Gingival fibromatosis def: "The presence of fibrosis of the gingiva." [https://orcid.org/0000-0002-0736-9199] comment: Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. subset: hposlim_core synonym: "Gingival fibroma" EXACT [] synonym: "Gingival fibrous nodules" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Hereditary gingival fibromatosis" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Idiopathic gingival hyperplasia" NARROW [https://orcid.org/0000-0001-5889-4463] xref: NCIT:C3041 xref: SNOMEDCT_US:109620006 xref: SNOMEDCT_US:58569000 xref: UMLS:C0016049 xref: UMLS:C0399440 xref: UMLS:C4280677 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0010614 ! Fibroma [Term] id: HP:0000171 name: Microglossia alt_id: HP:0000226 alt_id: HP:0009079 def: "Decreased length and width of the tongue." [PMID:19125428] comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. subset: hposlim_core synonym: "Abnormally small tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of tongue" EXACT [] synonym: "Hypoglossia" EXACT [] synonym: "Hypoplasia of the tongue" EXACT [] synonym: "Hypoplastic tongue" EXACT [] synonym: "Lingual hypoplasia" EXACT [] synonym: "Rudimentary tongue" EXACT [] synonym: "Small tongue" EXACT [] synonym: "Underdevelopment of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249380003 xref: SNOMEDCT_US:32614006 xref: UMLS:C0025988 xref: UMLS:C0426492 is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue [Term] id: HP:0000172 name: Abnormal uvula morphology def: "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the uvula" EXACT layperson [] xref: UMLS:C4025885 is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000174 name: Abnormal palate morphology def: "Any abnormality of the palate, i.e., of roof of the mouth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the palate" EXACT layperson [] synonym: "Abnormality of the roof of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Palatal anomaly" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Palate abnormality" EXACT [] xref: UMLS:C4021815 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000175 name: Cleft palate alt_id: HP:0410004 def: "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [https://orcid.org/0000-0002-0736-9199] comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. subset: hposlim_core synonym: "Cleft hard and soft palate" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of hard and soft palate" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of palate" EXACT [] synonym: "Cleft palate" EXACT layperson [] synonym: "Cleft roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft secondary palate" BROAD [] synonym: "Palatoschisis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Uranostaphyloschisis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4876 xref: SNOMEDCT_US:63567004 xref: SNOMEDCT_US:87979003 xref: UMLS:C0008925 xref: UMLS:C2981150 is_a: HP:0000174 ! Abnormal palate morphology is_a: HP:0000202 ! Orofacial cleft [Term] id: HP:0000176 name: Submucous cleft hard palate alt_id: HP:0000208 alt_id: HP:0002746 alt_id: HP:0009091 def: "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [https://orcid.org/0000-0002-0736-9199, PMID:19779505] synonym: "Partial thickness cleft hard palate" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:43437003 xref: UMLS:C0432103 xref: UMLS:C4020894 is_a: HP:0410005 ! Cleft hard palate is_a: HP:5201016 ! Submucous cleft palate [Term] id: HP:0000177 name: Abnormal upper lip morphology def: "An abnormality of the upper lip." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of upper lip" EXACT layperson [] synonym: "Anomaly of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025884 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000178 name: Abnormal lower lip morphology def: "An abnormality of the lower lip." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of lower lip" EXACT layperson [] synonym: "Anomaly of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025883 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000179 name: Thick lower lip vermilion alt_id: HP:0000170 def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. synonym: "Full lower lip" RELATED layperson [] synonym: "Full lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plump lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent lower lip" EXACT layperson [] synonym: "Prominent lower lip vermilion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Thick lower lip" RELATED layperson [] synonym: "Thick red part of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick vermilion border of lower lip" EXACT [] xref: UMLS:C1839739 xref: UMLS:C2053437 is_a: HP:0000178 ! Abnormal lower lip morphology is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000180 name: Lobulated tongue def: "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [PMID:19125428] comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes. subset: hposlim_core synonym: "Bumpy tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual lobules" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lobulate tongue" EXACT [] xref: SNOMEDCT_US:253752000 xref: UMLS:C0431564 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000182 name: Movement abnormality of the tongue synonym: "Abnormality of lingual movement" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Movement abnormality of the tongue" EXACT layperson [] xref: UMLS:C4025882 is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0000183 name: Tongue muscle weakness def: "Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia." [] is_a: HP:0000182 ! Movement abnormality of the tongue [Term] id: HP:0000185 name: Cleft soft palate def: "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft muscular palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of soft palate" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Cleft velum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:253997002 xref: UMLS:C0432098 is_a: HP:0000175 ! Cleft palate is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000187 name: Broad alveolar ridges synonym: "Broad alveolar margins" EXACT [] synonym: "Broad alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Wide alveolar margins" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Wide alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Wide gum ridges" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Widened alveolar ridges" EXACT [] xref: UMLS:C1857500 xref: UMLS:C4280675 is_a: HP:0006477 ! Abnormal alveolar ridge morphology [Term] id: HP:0000188 name: Short upper lip alt_id: HP:0200087 def: "Decreased width of the upper lip." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased height of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased upper labial height" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased upper labial length" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased vertical length of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short upper lip" EXACT layperson [] synonym: "Shortening of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical deficiency of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1848977 is_a: HP:0000177 ! Abnormal upper lip morphology [Term] id: HP:0000189 name: Narrow palate def: "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [PMID:19125428] comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. subset: hposlim_core synonym: "Decreased palatal width" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased transverse dimension of palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow palate" EXACT layperson [] synonym: "Narrow roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1398312 is_a: HP:0000174 ! Abnormal palate morphology [Term] id: HP:0000190 name: Abnormal oral frenulum morphology def: "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [https://orcid.org/0000-0002-0736-9199, PMID:23633765] comment: A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. synonym: "Abnormality of frenum of tongue" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of lingual frenum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of oral frenula" EXACT [] synonym: "Abnormality of oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025881 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000191 name: Accessory oral frenulum def: "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [PMID:19125428] comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. subset: hposlim_core synonym: "Accessory oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Extra oral frenulum" EXACT [] synonym: "Extra oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple oral frenula" EXACT [] synonym: "Supernumerary oral frenulum" EXACT [] synonym: "Supernumerary oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021814 is_a: HP:0000190 ! Abnormal oral frenulum morphology [Term] id: HP:0000193 name: Bifid uvula alt_id: HP:0000173 alt_id: HP:0410032 def: "Uvula separated into two parts most easily seen at the tip." [PMID:19125428] subset: hposlim_core synonym: "Bifid palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of uvula" EXACT [] synonym: "Cleft uvula" EXACT [] synonym: "Forked uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Split uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Uvula bifida" EXACT [] xref: SNOMEDCT_US:18910001 xref: UMLS:C0266122 is_a: HP:0000172 ! Abnormal uvula morphology [Term] id: HP:0000194 name: Open mouth def: "A facial appearance characterized by a permanently or nearly permanently opened mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Gaped jawed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gaped mouthed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Open mouth" EXACT layperson [] synonym: "Open mouth appearance" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Slack jawed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:262016004 xref: UMLS:C0240379 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000196 name: Lower lip pit def: "Depression located on the vermilion of the lower lip, usually paramedian." [https://orcid.org/0009-0006-4530-3154, PMID:19125428] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). xref: UMLS:C1861544 is_a: HP:0000178 ! Abnormal lower lip morphology is_a: HP:0100269 ! Paramedian lip pit [Term] id: HP:0000197 name: Abnormal parotid gland morphology def: "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of parotid gland" EXACT [] synonym: "Anomaly of the parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025880 is_a: HP:0010286 ! Abnormal salivary gland morphology [Term] id: HP:0000198 name: Absence of Stensen duct synonym: "Absence of parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Absent stensen duct" EXACT [] synonym: "Agenesis of parotid duct" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of stensen duct" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of stensen duct" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing stensen duct" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1858569 xref: UMLS:C4280674 is_a: HP:0000197 ! Abnormal parotid gland morphology [Term] id: HP:0000199 name: Tongue nodules synonym: "Lingual nodules" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0241438 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000200 name: Short lingual frenulum def: "The presence of an abnormally short lingual frenulum." [https://orcid.org/0000-0002-0736-9199] synonym: "Deficiency of lingual frenulum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lingual frenulum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lingual frenum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of tongue frenulum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of tongue frenum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Short lingual frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short tongue frenulum" EXACT [] synonym: "Short tongue frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tight lingual frenulum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249388005 xref: UMLS:C0426501 xref: UMLS:C4280673 is_a: HP:0000190 ! Abnormal oral frenulum morphology [Term] id: HP:0000201 name: Pierre-Robin sequence def: "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Pierre Robin sequence" EXACT [] synonym: "Pierre-robin anomaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pierre-robin deformity" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pierre-robin malformation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Robin sequence" EXACT [] xref: SNOMEDCT_US:4602007 xref: UMLS:C0031900 is_a: HP:0031816 ! Abnormal oral morphology [Term] id: HP:0000202 name: Orofacial cleft def: "The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html, PMID:21331089] synonym: "Cleft lip, cleft palate" NARROW [] synonym: "Cleft lip/palate" RELATED [] synonym: "Cleft of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oral cleft" EXACT [] synonym: "Oral clefting" EXACT [] xref: SNOMEDCT_US:253983005 xref: SNOMEDCT_US:66948001 xref: UMLS:C0158646 xref: UMLS:C4021813 is_a: HP:0000163 ! Abnormal oral cavity morphology is_a: HP:5201015 ! Craniofacial cleft [Term] id: HP:0000204 name: Cleft upper lip def: "A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [https://orcid.org/0000-0002-0736-9199] synonym: "Cheiloschisis of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of upper lip" RELATED layperson [] synonym: "Cleft upper lip" EXACT layperson [] synonym: "Harelip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4875 xref: SNOMEDCT_US:80281008 xref: UMLS:C0008924 is_a: HP:0000177 ! Abnormal upper lip morphology is_a: HP:0410030 ! Cleft lip [Term] id: HP:0000205 name: Pursed lips def: "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Pursed lips" EXACT layperson [] synonym: "Tightly closed lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1832130 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000206 name: Glossitis def: "Inflammation of the tongue." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Inflammation of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual inflammation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Smooth swollen tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:45534005 xref: UMLS:C0017675 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000207 name: Triangular mouth def: "The presence of a triangular form of the mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular mouth" EXACT layperson [] synonym: "Triangular shaped mouth" EXACT layperson [] synonym: "Triangular shaped oral aperture" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849341 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000211 name: Trismus def: "Limitation in the ability to open the mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Decrease in jaw mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in jaw movement" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in jaw opening" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in mandibular mobility" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in mandibular movement" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in mandibular opening" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Limited jaw mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Limited jaw movement" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Limited jaw opening" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Limited mandibular mobility" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Limited mandibular opening" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Limited mouth opening" BROAD layperson [] synonym: "Lockjaw" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pain of muscles of mastication" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:87866006 xref: UMLS:C0041105 xref: UMLS:C1848474 xref: UMLS:C4228933 xref: UMLS:C4280672 is_a: HP:0000277 ! Abnormal mandible morphology [Term] id: HP:0000212 name: Gingival overgrowth alt_id: HP:0000195 def: "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [PMID:19125428] comment: This finding is to be distinguished from overgrowth of the alveolar ridge. subset: hposlim_core synonym: "Gingival enlargement" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival hyperplasia" EXACT [] synonym: "Gum enlargement" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gum hypertrophy" EXACT [] synonym: "Hypertrophic gingivitis" EXACT [] synonym: "Oral soft tissue hyperplasia" RELATED [] xref: SNOMEDCT_US:441787004 xref: SNOMEDCT_US:441798003 xref: SNOMEDCT_US:54711002 xref: UMLS:C0017566 xref: UMLS:C0017567 xref: UMLS:C0376480 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000214 name: Lip telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasias of the lip" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Labial angioectasias" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Labial telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lip telangiectases" EXACT [] synonym: "Spider veins of the lip" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of the lips" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1857697 xref: UMLS:C4280670 xref: UMLS:C4280671 is_a: HP:0000159 ! Abnormal lip morphology is_a: HP:0000228 ! Oral cavity telangiectasia [Term] id: HP:0000215 name: Thick upper lip vermilion alt_id: HP:0000231 def: "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. subset: hposlim_core synonym: "Full upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Full upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plump upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent upper lip" EXACT layperson [] synonym: "Prominent upper lip vermilion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Thick red part of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick upper lip" EXACT layperson [https://orcid.org/0009-0006-4530-3154] synonym: "Thick vermilion border of upper lip" EXACT [] xref: UMLS:C1846423 is_a: HP:0011339 ! Abnormality of upper lip vermillion is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000216 name: Broad secondary alveolar ridge synonym: "Secondary alveolar ridges" EXACT [] xref: UMLS:C1839276 is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0000217 name: Xerostomia alt_id: HP:0002709 alt_id: HP:0100756 def: "Dryness of the mouth due to salivary gland dysfunction." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased salivary flow" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dry mouth" EXACT layperson [] synonym: "Dry mouth syndrome" EXACT layperson [] synonym: "Reduced salivation" EXACT layperson [] xref: SNOMEDCT_US:300268000 xref: SNOMEDCT_US:56893005 xref: SNOMEDCT_US:87715008 xref: UMLS:C0043352 is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0000218 name: High palate alt_id: HP:0000156 alt_id: HP:0009080 alt_id: HP:0009082 alt_id: HP:0009097 def: "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately. synonym: "Elevated palate" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "High arched palate" EXACT [] synonym: "High palate" EXACT layperson [] synonym: "High, arched palate" EXACT [] synonym: "High-arched palate" EXACT [] synonym: "Increased palatal height" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ogival palate" RELATED [] synonym: "Palate high-arched" EXACT [] synonym: "Palate, high-arched" EXACT [] xref: SNOMEDCT_US:27272007 xref: UMLS:C0240635 is_a: HP:0000174 ! Abnormal palate morphology [Term] id: HP:0000219 name: Thin upper lip vermilion alt_id: HP:0200062 alt_id: HP:0200086 def: "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. subset: hposlim_core synonym: "Decreased height of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin red part of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin upper lip" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Thin upper lips" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Thin vermilion border of upper lip" EXACT [] xref: UMLS:C1865017 is_a: HP:0000233 ! Thin vermilion border is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0000220 name: Velopharyngeal insufficiency def: "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [HPO_CONTRIBUTOR:DDD_jhurst] synonym: "Velopharyngeal dysfunction" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Velopharyngeal incompetence" EXACT layperson [] xref: SNOMEDCT_US:229727006 xref: SNOMEDCT_US:232416001 xref: SNOMEDCT_US:278714002 xref: UMLS:C0042454 xref: UMLS:C4280669 is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000221 name: Furrowed tongue def: "Accentuation of the grooves on the dorsal surface of the tongue." [PMID:19125428] comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. subset: hposlim_core synonym: "Fissured tongue" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Grooved tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lingua plicata" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plicated tongue" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Prominent tongue grooves" EXACT [] synonym: "Scrotal tongue" EXACT [] xref: SNOMEDCT_US:52368004 xref: UMLS:C0040412 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000222 name: Gingival hyperkeratosis alt_id: HP:0007539 def: "Hyperkeratosis of the gingiva." [https://orcid.org/0000-0002-9338-3017] comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing esthetic and functional problems. synonym: "Hyperkeratosis, gingival" EXACT [] xref: UMLS:C1857013 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000223 name: Abnormality of taste sensation synonym: "Abnormality of taste sensation" EXACT layperson [] xref: UMLS:C4025879 is_a: HP:0012638 ! Abnormal nervous system physiology is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0000224 name: Hypogeusia def: "A decreased ability to perceive flavor." [] synonym: "Decreased taste" EXACT layperson [] synonym: "Decreased taste sensation" EXACT layperson [] xref: SNOMEDCT_US:697990000 xref: UMLS:C0151934 is_a: HP:0000223 ! Abnormality of taste sensation [Term] id: HP:0000225 name: Gingival bleeding alt_id: HP:0000167 def: "Hemorrhage affecting the gingiva." [https://orcid.org/0000-0002-9338-3017] synonym: "Bleeding gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival haemorrhage" EXACT uk_spelling [] synonym: "Gingival hemorrhage" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Gingivorrhagia" EXACT [] xref: SNOMEDCT_US:86276007 xref: UMLS:C0017565 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000227 name: Tongue telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasias of the tongue" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual angioectasias" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of the tongue" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025878 xref: UMLS:C4280668 is_a: HP:0000228 ! Oral cavity telangiectasia is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000228 name: Oral cavity telangiectasia def: "Presence of telangiectases in the oral cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasias of the mouth" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Angioectasias of the oral cavity" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Oral cavity teleangiectasia" EXACT [] synonym: "Spider veins of the mouth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of the oral cavity" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025877 xref: UMLS:C4280667 is_a: HP:0011830 ! Abnormal oral mucosa morphology is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000230 name: Gingivitis def: "Inflammation of the gingiva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Gingival inflammation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Inflamed gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Red and swollen gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:66383009 xref: UMLS:C0017574 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000232 name: Everted lower lip vermilion alt_id: HP:0000184 alt_id: HP:0002264 alt_id: HP:0002712 alt_id: HP:0004665 alt_id: HP:0009086 alt_id: HP:0009093 def: "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [PMID:19125428] comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. subset: hposlim_core synonym: "Drooping lower lip" EXACT layperson [] synonym: "Eclabium of lower lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Everted lower lip" EXACT [] synonym: "Everted prominent lower lip" EXACT [] synonym: "Outward turned lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding lower lip" RELATED layperson [] xref: UMLS:C1853246 xref: UMLS:C1866234 is_a: HP:0000178 ! Abnormal lower lip morphology is_a: HP:0012472 ! Eclabion [Term] id: HP:0000233 name: Thin vermilion border alt_id: HP:0000213 def: "Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips)." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. synonym: "Decreased volume of lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of lip vermillion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin lips" EXACT layperson [] synonym: "Thin vermilion borders" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Thin vermillion" EXACT [] xref: SNOMEDCT_US:301348000 xref: UMLS:C0578038 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000234 name: Abnormality of the head def: "An abnormality of the head." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal head" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the head" EXACT layperson [] synonym: "Head abnormality" EXACT layperson [] xref: UMLS:C4021812 is_a: HP:0000152 ! Abnormality of head or neck [Term] id: HP:0000235 name: Abnormal cranial suture/fontanelle morphology def: "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments)." [https://orcid.org/0000-0002-0736-9199, PMID:12825844, PMID:31194354] comment: Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. synonym: "Abnormality of the fontanelles or cranial sutures" EXACT [] xref: UMLS:C4025876 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000236 name: Abnormal anterior fontanelle morphology def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the anterior fontanelle" EXACT [] synonym: "Abnormality of the forehead soft spot" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025875 is_a: HP:0011328 ! Abnormal fontanelle morphology [Term] id: HP:0000237 name: Small anterior fontanelle def: "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small anterior fontanel" EXACT [] synonym: "Small forehead fontanel" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859455 is_a: HP:0000236 ! Abnormal anterior fontanelle morphology [Term] id: HP:0000238 name: Hydrocephalus alt_id: HP:0007189 alt_id: HP:0008503 def: "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [https://orcid.org/0000-0002-0736-9199, PMID:18211712, PMID:19410151] comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. synonym: "Hydrocephaly" EXACT [] synonym: "Nonsyndromal hydrocephalus" EXACT [] synonym: "Too much cerebrospinal fluid in the brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:230745008 xref: UMLS:C0020255 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology is_a: HP:0002921 ! Abnormal cerebrospinal fluid morphology [Term] id: HP:0000239 name: Large fontanelles alt_id: HP:0004473 def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [https://orcid.org/0000-0002-0736-9199] comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). synonym: "Enlarged fontanelles" EXACT [] synonym: "Large bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Large fontanel" EXACT [] synonym: "Large fontanelle" EXACT [] synonym: "Large fontanels" EXACT [] synonym: "Large, late-closing fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Persistent wide fontanel" EXACT [] synonym: "Wide bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Wide fontanelles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:276709006 xref: UMLS:C0456132 xref: UMLS:C4072820 xref: UMLS:C4072821 xref: UMLS:C4072822 is_a: HP:0011328 ! Abnormal fontanelle morphology [Term] id: HP:0000240 name: Abnormality of skull size def: "Any abnormality of the size of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranium size" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of head size" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of skull size" EXACT layperson [] xref: UMLS:C4025874 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000242 name: Parietal bossing alt_id: HP:0004641 def: "Parietal bossing is a marked prominence in the parietal region." [https://orcid.org/0000-0002-0736-9199] synonym: "Biparietal bossing" EXACT [] synonym: "Bossing of parietal bone" EXACT [] xref: UMLS:C1857126 is_a: HP:0002696 ! Abnormal parietal bone morphology [Term] id: HP:0000243 name: Trigonocephaly def: "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." [PMID:19125436] comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. subset: hposlim_core synonym: "Triangular cranium shape" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular skull shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wedge shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wedge shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wedge shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:28740008 xref: UMLS:C0265535 xref: UMLS:C4280665 xref: UMLS:C4280666 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000244 name: Brachyturricephaly def: "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region." [PMID:8460563] synonym: "Brachy-turricephaly" EXACT [PMID:8460563] synonym: "High, prominent forehead" EXACT layperson [https://orcid.org/0000-0002-9353-5498] synonym: "Turribrachycephaly" EXACT [] xref: UMLS:C1857484 is_a: HP:0000248 ! Brachycephaly is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000245 name: Abnormal paranasal sinus morphology def: "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the paranasal sinuses" RELATED [] synonym: "Abnormality of the sinuses" BROAD layperson [] synonym: "Abnormality of the sinuses of the head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025873 is_a: HP:0002087 ! Abnormality of the upper respiratory tract is_a: HP:0011821 ! Abnormal facial skeleton morphology [Term] id: HP:0000246 name: Sinusitis def: "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Sinus disease" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Sinus infection" BROAD layperson [] synonym: "Sinus inflammation" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:36971009 xref: SNOMEDCT_US:7393007 xref: UMLS:C0030469 xref: UMLS:C0037199 is_a: HP:0000245 ! Abnormal paranasal sinus morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000248 name: Brachycephaly alt_id: HP:0002258 alt_id: HP:0004479 alt_id: HP:0008512 def: "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. subset: hposlim_core synonym: "Broad cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Broad head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short and broad skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Wide cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Wide head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:13649004 xref: UMLS:C0221356 xref: UMLS:C4072823 xref: UMLS:C4072824 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000250 name: Dense calvaria def: "An abnormal increase of density of the bones making up the calvaria." [https://orcid.org/0000-0002-0736-9199] synonym: "Dense skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1854834 is_a: HP:0002683 ! Abnormal calvaria morphology is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0000252 name: Microcephaly alt_id: HP:0001366 alt_id: HP:0005485 alt_id: HP:0005489 alt_id: HP:0005497 def: "Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition subset: hposlim_core synonym: "Abnormally small cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally small head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally small skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased circumference of cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced head circumference" EXACT layperson [] synonym: "small calvarium" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "small cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small head circumference" EXACT layperson [] synonym: "Small skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4310 xref: SNOMEDCT_US:271611007 xref: UMLS:C4551563 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum is_a: HP:0040195 ! Decreased head circumference [Term] id: HP:0000253 name: Progressive microcephaly def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Microcephaly, postnatal, progressive" EXACT [] synonym: "Microcephaly, progressive" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Progressively abnormally small cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Progressively abnormally small skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1850456 is_a: HP:0005484 ! Secondary microcephaly [Term] id: HP:0000255 name: Acute sinusitis def: "An acute form of sinusitis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:15805002 xref: UMLS:C0149512 is_a: HP:0000246 ! Sinusitis [Term] id: HP:0000256 name: Macrocephaly alt_id: HP:0005491 alt_id: HP:0005496 alt_id: HP:0200135 def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [PMID:19125436] comment: Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. subset: hposlim_core synonym: "Big calvaria" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big cranium" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large calvaria" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Large cranium" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Large head" EXACT layperson [] synonym: "Large head circumference" EXACT layperson [] synonym: "Large skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Macrocephalus" EXACT [] synonym: "Macrocrania" EXACT [] synonym: "Megacephaly" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4335 xref: UMLS:C4083076 xref: UMLS:C4255213 xref: UMLS:C4280663 xref: UMLS:C4280664 is_a: HP:0040194 ! Increased head circumference [Term] id: HP:0000260 name: Wide anterior fontanel def: "Enlargement of the anterior fontanelle with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Large anterior fontanel" EXACT [] synonym: "Large anterior fontanelle" EXACT [] synonym: "Large anterior fontanels" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Large open anterior fontanel" EXACT [] synonym: "Large open anterior fontanelle" EXACT [] synonym: "Wide anterior fontanelle" EXACT [] synonym: "Wide open anterior fontanelle" EXACT [] synonym: "Wider-than-typical soft spot of skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1866134 is_a: HP:0000236 ! Abnormal anterior fontanelle morphology is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0000262 name: Turricephaly alt_id: HP:0001356 def: "Tall head relative to width and length." [PMID:19125436] comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. subset: hposlim_core synonym: "Tall shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tall shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tall shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tower cranium shape" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tower skull shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Turricephalus" EXACT [] xref: SNOMEDCT_US:48069004 xref: UMLS:C0030044 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000263 name: Oxycephaly def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Acrocephaly" RELATED [] is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000264 name: Abnormal mastoid morphology def: "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of mastoid process of temporal bone" EXACT [] synonym: "Abnormality of the mastoid" EXACT [] xref: UMLS:C4025872 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000265 name: Mastoiditis xref: SNOMEDCT_US:52404001 xref: UMLS:C0024904 is_a: HP:0000264 ! Abnormal mastoid morphology [Term] id: HP:0000267 name: Cranial asymmetry def: "Asymmetry of the bones of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranial vault shape" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of cranium shape" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of head shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cranial vault asymmetry" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of cranial vault shape" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of cranium shape" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of head shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860245 xref: UMLS:C4280258 xref: UMLS:C4280657 xref: UMLS:C4280658 xref: UMLS:C4280659 xref: UMLS:C4280660 xref: UMLS:C4280661 xref: UMLS:C4280662 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000268 name: Dolichocephaly alt_id: HP:0000258 alt_id: HP:0005440 def: "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). subset: hposlim_core synonym: "Large dolichocephalic skull" NARROW [] synonym: "Long, narrow head" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Narrow cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tall and narrow skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Turridolichocephaly" BROAD [] xref: SNOMEDCT_US:72239002 xref: UMLS:C0221358 xref: UMLS:C4280653 xref: UMLS:C4280654 xref: UMLS:C4280655 xref: UMLS:C4280656 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000269 name: Prominent occiput alt_id: HP:0004489 def: "Increased convexity of the occiput (posterior part of the skull)." [PMID:19125436] comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. subset: hposlim_core synonym: "Prominent back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent back of the skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding occiput" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853737 xref: UMLS:C4280652 is_a: HP:0011217 ! Abnormal shape of the occiput [Term] id: HP:0000270 name: Delayed cranial suture closure alt_id: HP:0002704 alt_id: HP:0003794 def: "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad late closing cranial sutures" EXACT [] synonym: "Delayed closure of fontanel" EXACT [] synonym: "Delayed closure of fontanelles" EXACT [] synonym: "Delayed closure of fontanels" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Delayed closure of the fontanelles" EXACT [] synonym: "Delayed cranial suture closure" EXACT layperson [] synonym: "Delayed fontanel closure" EXACT [] synonym: "Delayed fontanelle closure" EXACT [] synonym: "Late closing fontanelles" EXACT [] synonym: "Late closure of fontanelle" EXACT [] synonym: "Late-closing fontanelle" EXACT [] synonym: "Open sutures" EXACT [] xref: SNOMEDCT_US:82779003 xref: UMLS:C0277828 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0000271 name: Abnormality of the face def: "An abnormality of the face." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal face" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the countenance" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the face" EXACT layperson [] synonym: "Abnormality of the physiognomy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the visage" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of face" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the face" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of the face" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial abnormality" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial anomaly" RELATED [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:118930001 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 xref: SNOMEDCT_US:398302004 xref: UMLS:C0266617 xref: UMLS:C1290857 xref: UMLS:C4025871 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000272 name: Malar flattening alt_id: HP:0000312 alt_id: HP:0000332 alt_id: HP:0004642 alt_id: HP:0004658 alt_id: HP:0004671 alt_id: HP:0005319 alt_id: HP:0005443 alt_id: HP:0005455 alt_id: HP:0100846 def: "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="https://orcid.org/0000-0001-5889-4463"} subset: hposlim_core synonym: "Decreased size of malar bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed malar region" EXACT [] synonym: "Flat cheekbone" EXACT [https://orcid.org/0000-0002-9353-5498] synonym: "Hypotrophic malar bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Malar hypoplasia" EXACT [] synonym: "Underdevelopment of malar bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Zygomatic flattening" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1858085 xref: UMLS:C4280651 is_a: HP:0010668 ! Abnormal zygomatic bone morphology [Term] id: HP:0000273 name: Facial grimacing synonym: "Facial grimacing" EXACT layperson [] xref: SNOMEDCT_US:37126005 xref: UMLS:C0234853 is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0000274 name: Small face def: "A face that is short and narrow." [https://orcid.org/0000-0002-0736-9199] comment: This term represents a combination of two terms, short face and narrow face. synonym: "Facial hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Microface" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Microfacies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short and narrow face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small face" EXACT layperson [] synonym: "Small facies" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855538 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000275 name: Narrow face alt_id: HP:0000318 def: "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [PMID:19125436] comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. subset: hposlim_core synonym: "Decreased breadth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased horizontal dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased transverse dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal deficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal insufficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow face" EXACT layperson [] synonym: "Narrow facies" EXACT [] synonym: "Thin face" RELATED layperson [] synonym: "Thin facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse deficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse insufficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837463 xref: UMLS:C1849121 is_a: HP:0000274 ! Small face [Term] id: HP:0000276 name: Long face alt_id: HP:0000334 def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [PMID:19125436] comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. subset: hposlim_core synonym: "Elongation of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Long face" EXACT layperson [] synonym: "Long facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical elongation of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical enlargement of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical Facial Excess" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical overgrowth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836047 is_a: HP:0100729 ! Large face [Term] id: HP:0000277 name: Abnormal mandible morphology alt_id: HP:0000209 def: "Any abnormality of the mandible, the bone of the lower jaw." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the lower jaw bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the mandible" EXACT layperson [] synonym: "Anomaly of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the lower jaw bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the lower jaw bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025870 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0000278 name: Retrognathia alt_id: HP:0002053 alt_id: HP:0002954 def: "An abnormality in which the mandible is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Lower jaw retrognathia" EXACT [] synonym: "Lower jaw retrusion" EXACT [] synonym: "Mandibular retrognathia" EXACT [] synonym: "Mandibular retrusion" EXACT [] synonym: "Receding chin" EXACT layperson [] synonym: "Receding lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Receding mandible" EXACT [] synonym: "Retrogenia" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Retrognathia of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retrusion of lower jaw" EXACT [] synonym: "Weak chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Weak jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3494422 is_a: HP:0000277 ! Abnormal mandible morphology [Term] id: HP:0000280 name: Coarse facial features alt_id: HP:0000281 alt_id: HP:0004640 def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [PMID:19125436] subset: hposlim_core synonym: "Coarse face" EXACT [] synonym: "Coarse facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Coarse facial features" EXACT layperson [] synonym: "Coarse facies" EXACT [] synonym: "Rounded and heavy facial features" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened facial skin with coarse facial features" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845847 xref: UMLS:C4072825 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000282 name: Facial edema synonym: "Facial oedema" EXACT uk_spelling [] synonym: "Facial puffiness" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial swelling" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Swelling of the face" EXACT [] xref: SNOMEDCT_US:445088006 xref: UMLS:C0542571 is_a: HP:0000969 ! Edema is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000283 name: Broad face def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [PMID:19125436] comment: Note that broad face is distinct from round face. subset: hposlim_core synonym: "Broad face" EXACT layperson [] synonym: "Broad facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased horizontal dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased transverse dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide facies" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859680 is_a: HP:0100729 ! Large face [Term] id: HP:0000284 name: obsolete Abnormality of the ocular region is_obsolete: true replaced_by: HP:0000315 [Term] id: HP:0000286 name: Epicanthus alt_id: HP:0000624 alt_id: HP:0007930 def: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [https://orcid.org/0000-0002-0736-9199] comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. subset: hposlim_core synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthal folds" EXACT [] synonym: "Epicanthic folds" EXACT [] synonym: "Eye folds" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Palpebronasal fold" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plica palpebronasalis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent eye folds" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0678230 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000287 name: Increased facial adipose tissue def: "An increased amount of subcutaneous fat tissue in the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial fat hyperplasia" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Facial fat hypertrophy" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Increased amount of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased amount of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025868 xref: UMLS:C4280649 xref: UMLS:C4280650 is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000288 name: Abnormality of the philtrum alt_id: HP:0011216 def: "An abnormality of the philtrum." [https://orcid.org/0000-0002-0736-9199] comment: The paralabial region is the region surrounding the lips and includes the philtrum. subset: hposlim_core synonym: "Abnormal philtrum" EXACT [] synonym: "Abnormality of the infranasal depression" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the paralabial region" EXACT [] xref: UMLS:C1857045 is_a: HP:0000177 ! Abnormal upper lip morphology [Term] id: HP:0000289 name: Broad philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [PMID:19152422] comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. subset: hposlim_core synonym: "Increased breadth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased horizontal dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased transverse dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide philtrum" EXACT [] xref: UMLS:C1854111 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000290 name: Abnormal forehead morphology def: "An anomaly of the forehead." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the forehead" EXACT layperson [] synonym: "Abnormality of the frontal region of the face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025867 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000291 name: Abnormality of facial adipose tissue synonym: "Abnormality of facial fat" EXACT layperson [] synonym: "Deformity of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025866 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000292 name: Loss of facial adipose tissue def: "Loss of normal subcutaneous fat tissue in the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased amount of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased amount of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Loss of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Loss of facial subcutaneous adipose tissue" EXACT [] synonym: "Loss of subcutaneous adipose tissue from face" EXACT [] xref: UMLS:C1837767 is_a: HP:0000291 ! Abnormality of facial adipose tissue is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0000293 name: Full cheeks alt_id: HP:0002262 alt_id: HP:0004427 def: "Increased prominence or roundness of soft tissues between zygomata and mandible." [https://orcid.org/0000-0002-2972-5481] subset: hposlim_core synonym: "Apple cheeks" EXACT layperson [] synonym: "Big cheeks" EXACT layperson [] synonym: "Chubby cheeks" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Full cheeks" EXACT layperson [] synonym: "Hyperplasia of cheeks" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of cheeks" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of cheeks" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large cheeks" EXACT layperson [] synonym: "Puffy cheeks" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1866231 xref: UMLS:C2748653 xref: UMLS:C3806443 xref: UMLS:C4280647 xref: UMLS:C4280648 is_a: HP:0004426 ! Abnormal cheek morphology [Term] id: HP:0000294 name: Low anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [PMID:19125436] comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. subset: hposlim_core synonym: "Low frontal hairline" EXACT layperson [] synonym: "Low-set frontal hairline" EXACT layperson [] xref: UMLS:C1842366 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0000295 name: Doll-like facies def: "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [https://orcid.org/0000-0002-0736-9199] comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. synonym: "Doll-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856361 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000297 name: Facial hypotonia def: "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199] synonym: "Atony of facial musculature" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotonic facies" EXACT [] synonym: "Low facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845251 xref: UMLS:C4280646 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001252 ! Hypotonia [Term] id: HP:0000298 name: Mask-like facies def: "A lack of facial expression often with staring eyes and a slightly open mouth." [https://orcid.org/0000-0002-0736-9199] comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. synonym: "Amimia" EXACT [] synonym: "Expressionless face" EXACT layperson [] synonym: "Lack of facial expression" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Mask-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Masklike facies" EXACT [] xref: SNOMEDCT_US:103606006 xref: UMLS:C0424448 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000300 name: Oval face def: "A face with a rounded and slightly elongated outline." [https://orcid.org/0000-0002-0736-9199] synonym: "Oval face" EXACT layperson [] synonym: "Oval facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oval facies" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849025 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000301 name: Abnormality of facial musculature def: "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199] comment: Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. synonym: "Abnormality of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial muscle issue" EXACT layperson [] xref: UMLS:C4025865 is_a: HP:0011799 ! Abnormality of facial soft tissue is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0000303 name: Mandibular prognathia alt_id: HP:0000251 alt_id: HP:0000279 alt_id: HP:0000328 alt_id: HP:0002051 alt_id: HP:0004648 alt_id: HP:0004656 alt_id: HP:0008514 def: "Abnormal prominence of the chin related to increased length of the mandible." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Big lower jaw" EXACT layperson [] synonym: "Big mandible" EXACT [] synonym: "Enlarged mandible" EXACT [] synonym: "Enlargement of mandible" EXACT [] synonym: "Hyperplasia of lower jaw" EXACT [] synonym: "Hypertrophy of lower jaw" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of mandible" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased projection of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased projection of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of mandible" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large lower jaw" EXACT layperson [] synonym: "Large mandible" EXACT [] synonym: "Lower jaw excess" EXACT [] synonym: "Lower jaw hyperplasia" EXACT [] synonym: "Macromandible" EXACT [] synonym: "Mandible prognathism" EXACT [] synonym: "Mandibular excess" EXACT [] synonym: "Mandibular hyperplasia" EXACT [] synonym: "Mandibular macrognathia" EXACT [] synonym: "Mandibular prognathism" EXACT [] synonym: "Prognathia" EXACT [] synonym: "Prognathism" EXACT [] synonym: "Prominent chin" EXACT layperson [] synonym: "Prominent jaw" EXACT [] synonym: "Prominent lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Relative mandibular prognathism" EXACT [] xref: SNOMEDCT_US:109504005 xref: SNOMEDCT_US:22810007 xref: UMLS:C0302501 xref: UMLS:C0399526 xref: UMLS:C2227134 xref: UMLS:C4280644 xref: UMLS:C4280645 is_a: HP:0000277 ! Abnormal mandible morphology is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000306 name: Abnormality of the chin def: "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] subset: hposlim_core synonym: "Abnormality of the chin" EXACT layperson [] synonym: "Abnormality of the menton" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the chin" NARROW layperson [] synonym: "Deformity of the chin" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the chin" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025864 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000307 name: Pointed chin alt_id: HP:0005330 def: "A marked tapering of the lower face to the chin." [PMID:19125436] comment: The two rami of the mandible meet at an acute angle. subset: hposlim_core synonym: "Pointed chin" EXACT layperson [] synonym: "Pointed mention region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pointy chin" EXACT layperson [] synonym: "Small pointed chin" EXACT layperson [] synonym: "Witch's chin" EXACT layperson [] xref: UMLS:C1844505 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000308 name: Microretrognathia def: "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199] synonym: "Retromicrognathia" EXACT [] synonym: "Small retruded chin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1839546 is_a: HP:0000278 ! Retrognathia is_a: HP:0000347 ! Micrognathia [Term] id: HP:0000309 name: Abnormal midface morphology alt_id: HP:0430026 def: "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] synonym: "Abnormal morphology of the midface" EXACT [] synonym: "Abnormality of the midface" EXACT layperson [] synonym: "Anomaly of the midface" EXACT [] synonym: "Deformity of the midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021811 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000311 name: Round face alt_id: HP:0000304 alt_id: HP:0004653 def: "The facial appearance is more circular than usual as viewed from the front." [PMID:19125436] subset: hposlim_core synonym: "Circular face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Round face" EXACT layperson [] synonym: "Round facial appearance" EXACT layperson [] synonym: "Round facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Round facies" EXACT [] synonym: "Round, full face" BROAD [] xref: UMLS:C0239479 xref: UMLS:C1856468 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000315 name: Abnormality of the orbital region alt_id: HP:0000284 synonym: "Abnormality of the eye region" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the region around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025863 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000316 name: Hypertelorism alt_id: HP:0000578 alt_id: HP:0002001 alt_id: HP:0004657 alt_id: HP:0007871 def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] subset: hposlim_core synonym: "Excessive orbital separation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased distance between eye sockets" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased distance between eyes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased interpupillary distance" EXACT [] synonym: "Ocular hypertelorism" EXACT [] synonym: "Wide-set eyes" EXACT layperson [] synonym: "Widely spaced eyes" EXACT layperson [] synonym: "Widened interpupillary distance" EXACT [] xref: SNOMEDCT_US:194021007 xref: SNOMEDCT_US:22006008 xref: UMLS:C0020534 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000317 name: Facial myokymia alt_id: HP:0004651 def: "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199] comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. synonym: "Involuntary facial contraction" EXACT [] synonym: "Involuntary facial quivering" EXACT layperson [] xref: SNOMEDCT_US:1070000 xref: UMLS:C0270871 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0002411 ! Myokymia [Term] id: HP:0000319 name: Smooth philtrum alt_id: HP:0000299 alt_id: HP:0000323 alt_id: HP:0004663 def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422] comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. synonym: "Decreased depth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat philtrum" EXACT [] synonym: "Indistinct philtrum" EXACT [] synonym: "Philtrum, smooth" EXACT [] synonym: "Shallow philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Simple philtrum" EXACT [] xref: UMLS:C1142533 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000320 name: Bird-like facies synonym: "Bird-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837758 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000321 name: Square face def: "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [PMID:19125436] synonym: "Square face" EXACT layperson [] synonym: "Square facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Square facies" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1832127 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000322 name: Short philtrum alt_id: HP:0200090 def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] subset: hposlim_core synonym: "Decreased height of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased vertical dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hypoplasia of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1861324 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000324 name: Facial asymmetry alt_id: HP:0003775 def: "An abnormal difference between the left and right sides of the face." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetric facies" EXACT [] synonym: "Asymmetry of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of right and left side of face" EXACT [] synonym: "Crooked face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial asymmetry" EXACT layperson [] synonym: "Unbalanced face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unequal sides of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven sides of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unsymmetrical face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:15253005 xref: UMLS:C1306710 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000325 name: Triangular face alt_id: HP:0004645 alt_id: HP:0004662 alt_id: HP:0004668 def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [https://orcid.org/0000-0002-9602-2321, PMID:19125436, PMID:21166787, PMID:30515601] comment: Several groups have used the term inverted triangular face to emphasize the fact that the point is facing downwards. subset: hposlim_core synonym: "Face with broad temples and narrow chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Inverted triangular face" EXACT [] synonym: "Triangular face" EXACT layperson [] synonym: "Triangular facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular facies" EXACT [] xref: UMLS:C1835884 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000326 name: Abnormal maxilla morphology def: "An abnormality of the Maxilla (upper jaw bone)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the maxilla" EXACT [] synonym: "Abnormality of the upper jaw bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the maxilla" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the maxilla" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the upper jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the maxilla" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the upper jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025862 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0000327 name: Hypoplasia of the maxilla alt_id: HP:0004644 def: "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased projection of maxilla" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased projection of upper jaw" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of maxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of upper jaw bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of upper jaw bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic maxillary bones" EXACT [] synonym: "Hypotrophic maxilla" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic upper jaw bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary micrognathia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary retrognathia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary retrusion" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Micromaxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retrognathia of upper jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Retrusion of upper jaw bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small maxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper jaw deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper jaw retrusion" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0240310 xref: UMLS:C4082243 xref: UMLS:C4280640 xref: UMLS:C4280641 xref: UMLS:C4280642 xref: UMLS:C4280643 is_a: HP:0000326 ! Abnormal maxilla morphology [Term] id: HP:0000329 name: Facial hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial hemangiomata" EXACT [] xref: UMLS:C1861443 is_a: HP:0001028 ! Hemangioma is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000331 name: Short chin def: "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). synonym: "Decreased height of chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short chin" EXACT layperson [] synonym: "Short lower third of face" EXACT layperson [] synonym: "Small chin" RELATED layperson [] synonym: "Vertical deficiency of chin" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hypoplasia of chin" EXACT [] xref: SNOMEDCT_US:699439001 xref: UMLS:C1839323 xref: UMLS:C3697248 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000336 name: Prominent supraorbital ridges def: "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [PMID:19125436] subset: hposlim_core synonym: "Hyperplasia of supraorbital margins" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of supraorbital ridge" NARROW [] synonym: "Hypertrophy of supraorbital margins" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of supraorbital ridge" NARROW [] synonym: "Prominent brow" EXACT layperson [] synonym: "Prominent supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent supraorbital ridge" EXACT [] synonym: "Protruding supraorbital ridge" EXACT [] synonym: "Supraorbital hyperostosis" EXACT [] xref: UMLS:C1842060 xref: UMLS:C4280636 xref: UMLS:C4280637 xref: UMLS:C4280638 xref: UMLS:C4280639 is_a: HP:0100538 ! Abnormality of the supraorbital ridges [Term] id: HP:0000337 name: Broad forehead alt_id: HP:0000352 alt_id: HP:0000354 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [PMID:19125436] comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. subset: hposlim_core synonym: "Bitemporal widening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Broad forehead" EXACT layperson [] synonym: "Increased bitemporal dimension" EXACT [] synonym: "Increased bitemporal width" EXACT [] synonym: "Increased width of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Intertemporal widening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide forehead" EXACT layperson [] xref: UMLS:C1849089 is_a: HP:0000290 ! Abnormal forehead morphology [Term] id: HP:0000338 name: Hypomimic face alt_id: HP:0008769 def: "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation." [https://orcid.org/0000-0002-0736-9199] comment: The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. synonym: "Decreased facial expressions" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased facial muscle movement" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dull facial expression" EXACT layperson [] synonym: "Hypomimia" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:248149005 xref: UMLS:C0813217 xref: UMLS:C1862474 xref: UMLS:C4280635 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000339 name: Pugilistic facies def: "Coarse facial features reminiscent of those of a boxer." [https://orcid.org/0000-0002-0736-9199] synonym: "Boxer-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pugilistic facial appearance" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1846011 is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000340 name: Sloping forehead alt_id: HP:0000351 alt_id: HP:0004480 alt_id: HP:0008493 alt_id: HP:0008500 def: "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view." [PMID:19125436] comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. subset: hposlim_core synonym: "Inclined forehead" EXACT layperson [] synonym: "Posteriorly sloping forehead" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Receding forehead" EXACT layperson [] synonym: "Sloping forehead" EXACT layperson [] xref: UMLS:C1857679 is_a: HP:0000290 ! Abnormal forehead morphology [Term] id: HP:0000341 name: Narrow forehead alt_id: HP:0000314 alt_id: HP:0004674 alt_id: HP:0004677 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [PMID:19125436] comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. subset: hposlim_core synonym: "Bitemporal narrowing" EXACT [] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] synonym: "Decreased width of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Intertemporal narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Narrow bitemporal width" EXACT [] synonym: "Narrow forehead" EXACT layperson [] synonym: "Temporal narrowness" EXACT [] xref: UMLS:C1839758 is_a: HP:0000290 ! Abnormal forehead morphology [Term] id: HP:0000343 name: Long philtrum def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] subset: hposlim_core synonym: "Elongated philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hyperplasia of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1865014 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000346 name: Whistling appearance def: "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [https://orcid.org/0000-0002-0736-9199, PMID:856233] synonym: "Whistling appearance" EXACT layperson [] synonym: "Whistling facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1848473 is_a: HP:0000205 ! Pursed lips [Term] id: HP:0000347 name: Micrognathia alt_id: HP:0000210 alt_id: HP:0000330 alt_id: HP:0000345 alt_id: HP:0002005 alt_id: HP:0002674 alt_id: HP:0004669 alt_id: HP:0005460 alt_id: HP:0005470 def: "Developmental hypoplasia of the mandible." [https://orcid.org/0000-0002-0736-9199] comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. subset: hposlim_core synonym: "Decreased projection of lower jaw" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased projection of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of lower jaw" EXACT [] synonym: "Decreased size of mandible" EXACT [] synonym: "Deficiency of lower jaw" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of mandible" EXACT [] synonym: "Hypoplastic mandible" EXACT [] synonym: "Hypoplastic mandible condyle" EXACT [] synonym: "Hypotrophic lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Little lower jaw" EXACT layperson [] synonym: "Little mandible" EXACT [] synonym: "Lower jaw deficiency" EXACT [] synonym: "Lower jaw hypoplasia" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Mandibular deficiency" EXACT [] synonym: "Mandibular hypoplasia" EXACT [] synonym: "Mandibular micrognathia" EXACT [] synonym: "Micrognathia of lower jaw" EXACT [] synonym: "Micromandible" EXACT [] synonym: "Robin mandible" EXACT [] synonym: "Severe hypoplasia of mandible" EXACT [] synonym: "Small jaw" EXACT layperson [] synonym: "Small lower jaw" EXACT layperson [] synonym: "Small mandible" EXACT [] synonym: "Underdevelopment of lower jaw" EXACT [] synonym: "Underdevelopment of mandible" EXACT [] xref: Fyler:4163 xref: SNOMEDCT_US:32958008 xref: UMLS:C0025990 xref: UMLS:C0240295 xref: UMLS:C1857130 is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible [Term] id: HP:0000348 name: High forehead alt_id: HP:0000342 def: "An abnormally increased height of the forehead." [https://orcid.org/0000-0002-0736-9199] synonym: "High forehead" EXACT layperson [] synonym: "Tall forehead" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0239676 xref: UMLS:C2677762 is_a: HP:0000290 ! Abnormal forehead morphology [Term] id: HP:0000349 name: Widow's peak alt_id: HP:0004544 def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [PMID:19125436] comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. subset: hposlim_core synonym: "Hairline peak" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hairline point" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed frontal hairline" EXACT [] synonym: "Pointed hairline at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "V-shaped frontal hairline" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Widow's peak" EXACT layperson [] xref: UMLS:C1853486 is_a: HP:0009890 ! High anterior hairline [Term] id: HP:0000350 name: Small forehead def: "The presence of a forehead that is abnormally small." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased size of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of frontal region of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of forehead" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic forehead" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Small forehead" EXACT layperson [] xref: UMLS:C1845250 xref: UMLS:C4280633 xref: UMLS:C4280634 is_a: HP:0000290 ! Abnormal forehead morphology [Term] id: HP:0000356 name: Abnormality of the outer ear alt_id: HP:0001752 def: "An abnormality of the external ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pinnae" EXACT [] synonym: "Abnormality of the auricle" EXACT [] synonym: "Abnormality of the external ear" EXACT layperson [] synonym: "Abnormality of the outer ear" EXACT layperson [] synonym: "Ear anomalies" EXACT layperson [] synonym: "External ear malformation" EXACT [] synonym: "External ear malformations" EXACT layperson [] synonym: "Malformed pinnae" EXACT [] synonym: "Outer ear abnormality" EXACT layperson [] xref: SNOMEDCT_US:275259005 xref: UMLS:C0266589 xref: UMLS:C1846460 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000357 name: Abnormal location of ears def: "Abnormal location of the ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal location of ears" EXACT layperson [] synonym: "External ear position defect" EXACT [] xref: UMLS:C4021810 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000358 name: Posteriorly rotated ears alt_id: HP:0000368 alt_id: HP:0008535 def: "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. subset: hposlim_core synonym: "Ear, posterior angulation, increased" EXACT [] synonym: "Ears rotated toward back of head" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Posteriorly angulated ears" EXACT [] synonym: "Posteriorly rotated" EXACT [] synonym: "Posteriorly rotated auricles" EXACT [] synonym: "Posteriorly-angulated ears" EXACT [] synonym: "Posteriorly-rotated ears" EXACT [] xref: SNOMEDCT_US:253251006 xref: UMLS:C0431478 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000359 name: Abnormality of the inner ear def: "An abnormality of the inner ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the inner ear" EXACT layperson [] synonym: "Inner ear abnormality" EXACT layperson [] xref: UMLS:C4021809 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000360 name: Tinnitus def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [] subset: hposlim_core synonym: "Ringing in ears" EXACT layperson [] synonym: "Ringing in the ears" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:162349004 xref: SNOMEDCT_US:162352007 xref: SNOMEDCT_US:60862001 xref: UMLS:C0040264 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000361 name: obsolete Pulsatile tinnitus (tympanic paraganglioma) is_obsolete: true replaced_by: HP:0008629 [Term] id: HP:0000362 name: Otosclerosis def: "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss." [https://orcid.org/0000-0002-0736-9199, PMID:15931303] comment: Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. subset: hposlim_core xref: SNOMEDCT_US:11543004 xref: UMLS:C0029899 is_a: HP:0008628 ! Abnormal stapes morphology [Term] id: HP:0000363 name: Abnormal earlobe morphology def: "An abnormality of the lobule of pinna." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal earlobe" EXACT layperson [] synonym: "Abnormal lobe of ear" EXACT [] synonym: "Abnormality of auricular lobule" EXACT [] synonym: "Abnormality of ear lobe" EXACT layperson [] synonym: "Abnormality of earlobe" EXACT layperson [] synonym: "Abnormality of lobulus auriculae" EXACT [] xref: UMLS:C4021808 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000364 name: Hearing abnormality def: "An abnormality of the sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. synonym: "Abnormal hearing" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Hearing abnormality" EXACT layperson [] xref: UMLS:C4025860 is_a: HP:0031704 ! Abnormal ear physiology [Term] id: HP:0000365 name: Hearing impairment alt_id: HP:0000404 alt_id: HP:0001728 alt_id: HP:0001729 alt_id: HP:0001754 alt_id: HP:0008560 alt_id: HP:0008563 def: "A decreased magnitude of the sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. synonym: "Deafness" EXACT layperson [] synonym: "Hearing defect" EXACT layperson [] synonym: "Hearing impairment" EXACT layperson [] synonym: "Hearing loss" RELATED layperson [] synonym: "Hypacusis" EXACT [] synonym: "Hypoacusis" RELATED [] xref: Fyler:4868 xref: SNOMEDCT_US:103276001 xref: SNOMEDCT_US:15188001 xref: SNOMEDCT_US:343087000 xref: SNOMEDCT_US:95828007 xref: UMLS:C0011053 xref: UMLS:C0018772 xref: UMLS:C0339789 xref: UMLS:C1384666 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000366 name: Abnormality of the nose def: "An abnormality of the nose." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the nose" EXACT layperson [] synonym: "Anomaly of the nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal abnormality" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal anomaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal deformity" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal malformation" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:128274005 xref: SNOMEDCT_US:72089000 xref: UMLS:C0240547 xref: UMLS:C0265736 xref: UMLS:C2235909 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000368 name: obsolete Low-set, posteriorly rotated ears comment: This bundled term has been retired. It is preferable to code each feature separately. is_obsolete: true replaced_by: HP:0000358 [Term] id: HP:0000369 name: Low-set ears def: "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] subset: hposlim_core synonym: "Low set ears" EXACT layperson [] synonym: "Low-set ears" EXACT layperson [] synonym: "Low-set pinnae" EXACT [] synonym: "Lowset ears" EXACT layperson [] synonym: "Melotia" EXACT [] xref: SNOMEDCT_US:95515009 xref: UMLS:C0239234 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000370 name: Abnormality of the middle ear def: "An abnormality of the middle ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Middle ear abnormalities" EXACT [] synonym: "Middle ear abnormality" EXACT [] xref: UMLS:C1861141 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000371 name: Acute otitis media def: "Acute otitis media is a short and generally painful infection of the middle ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:3110003 xref: UMLS:C0271429 is_a: HP:0000388 ! Otitis media [Term] id: HP:0000372 name: Abnormal auditory canal morphology def: "Any structural abnormality of the external acoustic tube (also known as the auditory canal)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the auditory canal" EXACT [] synonym: "Auditory canal abnormality" EXACT [] xref: UMLS:C4021807 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000375 name: Abnormal cochlea morphology def: "An abnormality of the cochlea." [https://orcid.org/0000-0002-0736-9199] comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain. synonym: "Abnormality of cochlea" EXACT [] xref: UMLS:C4025858 is_a: HP:0011390 ! Abnormal inner ear morphology [Term] id: HP:0000376 name: Incomplete partition of the cochlea type II def: "With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation." [https://orcid.org/0000-0002-0736-9199, PMID:21849370, PMID:34698066] comment: The triad of incomplete partition of the cochlea type II, dilation of the vestibule, and an enlarged vestibular aqueduct was previously referred to as a Mondini malformation but this nomenclature is no longer recommended. It is important to note that while reading the related literature, it is often not easy to understand if the authors use the correct terminology, so even in recent studies, the term Mondini should be considered with caution. synonym: "Cochlear malformation defect (Mondini dysplasia)" RELATED [] synonym: "Mondini defect" RELATED [] synonym: "Mondini dysplasia" RELATED [] synonym: "Mondini malformation" RELATED [] xref: UMLS:C1857078 xref: UMLS:C4025857 is_a: HP:0011373 ! Incomplete partition of the cochlea [Term] id: HP:0000377 name: Abnormal pinna morphology alt_id: HP:0000390 alt_id: HP:0000398 alt_id: HP:0004465 alt_id: HP:0008562 alt_id: HP:0008566 alt_id: HP:0008567 alt_id: HP:0008572 alt_id: HP:0008580 alt_id: HP:0008582 alt_id: HP:0008594 alt_id: HP:0008602 alt_id: HP:0040111 def: "An abnormality of the pinna, which is also referred to as the auricle or external ear." [https://orcid.org/0000-0002-0736-9199] comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. synonym: "Abnormal form of ears" EXACT [] synonym: "Abnormally shaped ears" EXACT layperson [] synonym: "Auricular malformation" EXACT layperson [] synonym: "Deformed auricles" EXACT [] synonym: "Deformed ears" EXACT layperson [] synonym: "Dysplastic ears" EXACT [] synonym: "Malformation of auricle" EXACT [] synonym: "Malformed auricles" EXACT [] synonym: "Malformed ears" EXACT layperson [] synonym: "Malformed external ears" EXACT [] synonym: "Minor malformation of the auricles" EXACT [] synonym: "Poorly defined conchae" EXACT [] xref: SNOMEDCT_US:253255002 xref: UMLS:C0431483 xref: UMLS:C0857379 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000378 name: Cupped ear alt_id: HP:0008531 alt_id: HP:0008600 def: "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [https://orcid.org/0000-0002-0736-9199, PMID:19162421, PMID:22073081] subset: hposlim_core synonym: "Capuchin ears" RELATED [] synonym: "Cup-shaped ears" EXACT layperson [] synonym: "Cupped ear" EXACT layperson [] synonym: "Cupped ears" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Simple, cup-shaped ears" EXACT layperson [] xref: UMLS:C1845447 xref: UMLS:C4020892 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000381 name: Stapes ankylosis def: "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)." [https://orcid.org/0000-0002-0736-9199, PMID:12089654] comment: Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. subset: hposlim_core synonym: "Stapes fixation" EXACT [] xref: UMLS:C1861326 is_a: HP:0008628 ! Abnormal stapes morphology [Term] id: HP:0000383 name: Abnormal periauricular region morphology synonym: "Abnormality of periauricular region" EXACT [] synonym: "Abnormality of the region around the ear" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025856 is_a: HP:0004426 ! Abnormal cheek morphology [Term] id: HP:0000384 name: Preauricular skin tag alt_id: HP:0008575 alt_id: HP:0100278 def: "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [https://orcid.org/0000-0002-0736-9199] synonym: "Ear tag" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Periauricular skin tag" EXACT [] synonym: "Preauricular acrochordon" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular fibroepithelial polyp" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular skin tags" EXACT [] synonym: "Preauricular tag" EXACT [] synonym: "Preauricular tags" EXACT [] synonym: "Skin tag in front of the ear" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Skin tag on the posterior cheek" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860816 xref: UMLS:C4072826 is_a: HP:0000383 ! Abnormal periauricular region morphology is_a: HP:0010609 ! Skin tags [Term] id: HP:0000385 name: Small earlobe alt_id: HP:0008616 def: "Reduced volume of the earlobe." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. subset: hposlim_core synonym: "Hypoplastic earlobes" EXACT [] synonym: "Hypoplastic lobules" EXACT [] synonym: "Small earlobe" EXACT layperson [] synonym: "Small earlobes" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1842680 is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000387 name: Absent earlobe def: "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] subset: hposlim_core synonym: "Absent ear lobes" EXACT [] synonym: "Absent earlobe" EXACT layperson [] synonym: "Earlobe, absent" EXACT layperson [] synonym: "Lobeless ears" EXACT layperson [] synonym: "Lobule aplasia" EXACT [] xref: UMLS:C1849364 is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000388 name: Otitis media def: "Inflammation or infection of the middle ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:65363002 xref: UMLS:C0029882 is_a: HP:0008609 ! Abnormal middle ear morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000389 name: Chronic otitis media alt_id: HP:0008524 def: "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Chronic ear infection" RELATED [] synonym: "Chronic infections of the middle ear" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Chronic middle ear infection" RELATED layperson [] synonym: "Otitis media, chronic" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:21186006 xref: UMLS:C0271441 xref: UMLS:C0743359 is_a: HP:0000388 ! Otitis media [Term] id: HP:0000391 name: Thickened helices def: "Increased thickness of the helix of the ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Thick helix" EXACT [] xref: UMLS:C1837732 is_a: HP:0011039 ! Abnormal helix morphology [Term] id: HP:0000394 name: Lop ear def: "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. subset: hposlim_core xref: SNOMEDCT_US:76223006 xref: UMLS:C0266614 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000395 name: Prominent antihelix def: "The presence of an abnormally prominent antihelix." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1845272 is_a: HP:0009738 ! Abnormal antihelix morphology [Term] id: HP:0000396 name: Overfolded helix alt_id: HP:0001758 alt_id: HP:0008570 def: "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. subset: hposlim_core synonym: "Over-folded helices" EXACT [] synonym: "Overfolded ears" EXACT layperson [] synonym: "Overfolded helices" EXACT [] xref: UMLS:C1837731 is_a: HP:0008544 ! Abnormally folded helix [Term] id: HP:0000399 name: Prelingual sensorineural hearing impairment alt_id: HP:0001731 def: "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech." [https://orcid.org/0000-0002-0736-9199] synonym: "Deafness, sensorineural, prelingual" EXACT [] synonym: "Prelingual sensorineural deafness" EXACT [] xref: UMLS:C4021806 is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0000400 name: Macrotia alt_id: HP:0000382 alt_id: HP:0000386 alt_id: HP:0000401 alt_id: HP:0001755 def: "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [PMID:19152421] comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. subset: hposlim_core synonym: "Large ears" EXACT layperson [] synonym: "Large pinnae" EXACT [] xref: SNOMEDCT_US:275480001 xref: SNOMEDCT_US:69056000 xref: UMLS:C0152421 xref: UMLS:C0554972 xref: UMLS:C1835581 xref: UMLS:C1848570 xref: UMLS:C1850189 xref: UMLS:C1855062 xref: UMLS:C1860838 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000402 name: Stenosis of the external auditory canal alt_id: HP:0000373 def: "An abnormal narrowing of the external auditory canal." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "External auditory canal stenosis" EXACT [] synonym: "Narrow auditory canals" EXACT [] synonym: "Narrow ear canal" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Narrow external auditory canals" EXACT [] synonym: "Narrow external auditory meatus" EXACT [] synonym: "Narrowing of passageway from outer ear to middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Stenotic external auditory canal" EXACT [] xref: SNOMEDCT_US:300127002 xref: SNOMEDCT_US:301061006 xref: UMLS:C0395837 xref: UMLS:C0576860 is_a: HP:0000372 ! Abnormal auditory canal morphology [Term] id: HP:0000403 name: Recurrent otitis media alt_id: HP:0008622 alt_id: HP:0008623 alt_id: HP:0008624 alt_id: HP:0040268 def: "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent otitis media" EXACT [] synonym: "Multiple episodes of otitis media" EXACT [] synonym: "Otitis media, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent episodes of otitis media" EXACT [] synonym: "Recurrent middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Susceptibility to otitis media" EXACT [] xref: UMLS:C0747085 is_a: HP:0000388 ! Otitis media is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0000405 name: Conductive hearing impairment alt_id: HP:0000367 alt_id: HP:0008581 def: "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: A conductive hearing impariment with greater than 90 dB loss. subset: hposlim_core synonym: "Conduction deafness" EXACT [] synonym: "Conductive deafness" EXACT layperson [] synonym: "Conductive hearing loss" EXACT layperson [] synonym: "Hearing loss, conductive" EXACT [] xref: SNOMEDCT_US:44057004 xref: UMLS:C0018777 is_a: HP:0000365 ! Hearing impairment is_a: HP:0011452 ! Functional abnormality of the middle ear [Term] id: HP:0000407 name: Sensorineural hearing impairment alt_id: HP:0000374 alt_id: HP:0001753 alt_id: HP:0001916 alt_id: HP:0008538 alt_id: HP:0008553 alt_id: HP:0008565 alt_id: HP:0008576 alt_id: HP:0008611 alt_id: HP:0008613 alt_id: HP:0008614 def: "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [https://orcid.org/0000-0002-0736-9199] comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). subset: hposlim_core synonym: "Hearing loss, sensorineural" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Sensorineural deafness" EXACT [] synonym: "Sensorineural hearing loss" EXACT [] xref: SNOMEDCT_US:60700002 xref: UMLS:C0018784 is_a: HP:0000365 ! Hearing impairment is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0000408 name: Progressive sensorineural hearing impairment alt_id: HP:0000397 alt_id: HP:0000406 alt_id: HP:0008592 alt_id: HP:0008601 alt_id: HP:0008617 def: "A progressive form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral progressive sensorineural hearing loss" EXACT [] synonym: "Hearing loss, progressive sensorineural" EXACT [] synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT [] synonym: "Hearing loss, sensorineural, progressive" EXACT [] synonym: "Progressive bilateral sensorineural hearing loss" EXACT [] synonym: "Sensorineural hearing loss, progressive" EXACT [] xref: UMLS:C1843156 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0001730 ! Progressive hearing impairment [Term] id: HP:0000410 name: Mixed hearing impairment def: "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Hearing loss, mixed" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Mixed hearing impairment" EXACT layperson [] synonym: "Mixed hearing loss" EXACT layperson [] xref: SNOMEDCT_US:77507001 xref: UMLS:C0155552 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0000411 name: Protruding ear alt_id: HP:0000412 def: "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [PMID:19152421] synonym: "Prominent ear" EXACT layperson [] synonym: "Prominent ears" EXACT layperson [] synonym: "Protruding ears" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:275478007 xref: UMLS:C1305420 xref: UMLS:C1855285 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000413 name: Atresia of the external auditory canal alt_id: HP:0008547 alt_id: HP:0008564 alt_id: HP:0008626 def: "Absence or failure to form of the external auditory canal." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent auditory canals" EXACT [] synonym: "Absent ear canal" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent external auditory canals" EXACT [] synonym: "Atresia of the external auditory canals" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Atretic auditory canal" EXACT [] synonym: "Atretic auditory canals" EXACT [] synonym: "Atretic external auditory canal" EXACT [] synonym: "Atretic external auditory canals" EXACT [] synonym: "Auditory canal atresia" EXACT [] synonym: "External acoustic meatus atresia" EXACT [] synonym: "External auditory canal atresia" EXACT [] synonym: "External auditory meatal atresia" EXACT [] synonym: "External auditory meatus atresia" EXACT [] xref: UMLS:C1398325 xref: UMLS:C1840305 xref: UMLS:C1857079 xref: UMLS:C1866190 is_a: HP:0000372 ! Abnormal auditory canal morphology [Term] id: HP:0000414 name: Bulbous nose alt_id: HP:0000443 def: "Increased volume and globular shape of the anteroinferior aspect of the nose." [PMID:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. synonym: "Bulbous nasal tip" RELATED [] synonym: "Bulbous nose" EXACT layperson [] synonym: "Potato nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0240543 xref: UMLS:C1834118 xref: UMLS:C1855751 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000415 name: Abnormal choanae morphology def: "Abnormality of the choanae (the posterior nasal apertures)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the choanae" EXACT [] xref: UMLS:C4025855 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000417 name: Slender nose synonym: "Slender nose" EXACT layperson [] xref: UMLS:C1857645 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000418 name: Narrow nasal ridge def: "Decreased width of the nasal ridge." [PMID:19152422] comment: This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately. synonym: "Decreased width of dorsum of nose" EXACT [] synonym: "Decreased width of nasal dorsum" EXACT [] synonym: "Decreased width of nasal ridge" EXACT layperson [] synonym: "Narrow dorsum of nose" EXACT [] synonym: "Narrow nasal dorsum" EXACT [] synonym: "Narrow nasal ridge" EXACT layperson [] synonym: "Pinched nose" EXACT layperson [] synonym: "Thin dorsum of nose" EXACT [] synonym: "Thin nasal dorsum" EXACT [] synonym: "Thin nasal ridge" EXACT layperson [] xref: UMLS:C1837761 is_a: HP:0011119 ! Abnormal nasal dorsum morphology [Term] id: HP:0000419 name: Abnormal nasal septum morphology def: "An abnormality of the nasal septum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the nasal septum" EXACT layperson [] synonym: "Anomaly of nasal septum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of septum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:95433000 xref: UMLS:C0151790 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000420 name: Short nasal septum def: "Reduced superior to inferior length of the nasal septum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased length of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short nasal septum" EXACT layperson [] synonym: "Short septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844857 is_a: HP:0000419 ! Abnormal nasal septum morphology [Term] id: HP:0000421 name: Epistaxis def: "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose." [https://orcid.org/0000-0002-0736-9199] synonym: "Bloody nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Frequent nosebleeds" EXACT layperson [] synonym: "Nasal haemorrhage" EXACT uk_spelling [] synonym: "Nasal hemorrhage" EXACT [NCIT:C26766] synonym: "Nose bleed" EXACT layperson [NCIT:C26766] synonym: "Nose bleeding" EXACT layperson [] synonym: "Nosebleed" EXACT layperson [NCIT:C26766] xref: COHD:318556 xref: EFO:0003895 xref: ICD10:R04.0 xref: ICD9:784.7 xref: NCIT:C26766 xref: SNOMEDCT_US:12441001 xref: SNOMEDCT_US:249366005 xref: UMLS:C0014591 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000422 name: Abnormal nasal bridge morphology alt_id: HP:0000423 def: "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge. subset: hposlim_core synonym: "Abnormality of the bridge of the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the nasal bridge" EXACT layperson [] synonym: "Abnormality of the nasal root" EXACT [] synonym: "Deformity of the bridge of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal bridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the bridge of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal bridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021805 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000426 name: Prominent nasal bridge alt_id: HP:0000432 alt_id: HP:0000442 alt_id: HP:0004498 alt_id: HP:0005287 def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [PMID:19152422] comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. synonym: "Convex bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Convex nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Elevated nasal bridge" EXACT layperson [] synonym: "High nasal bridge" EXACT layperson [] synonym: "Prominent bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nasal bridge" EXACT layperson [] synonym: "Prominent nasal root" EXACT layperson [] synonym: "Protruding bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1854113 xref: UMLS:C4230640 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0000429 name: Abnormal morphology of the nasal alae def: "An abnormality of the Ala of nose." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. subset: hposlim_core synonym: "Abnormality of the nasal ala" EXACT [] synonym: "Abnormality of the nasal alae" EXACT [] synonym: "Abnormality of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal ala" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal ala" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2227020 xref: UMLS:C4021804 xref: UMLS:C4280631 xref: UMLS:C4280632 is_a: HP:0010938 ! Abnormal external nose morphology [Term] id: HP:0000430 name: Underdeveloped nasal alae alt_id: HP:0004497 alt_id: HP:0004507 alt_id: HP:0005276 alt_id: HP:0005277 alt_id: HP:0005286 def: "Thinned, deficient, or excessively arched ala nasi." [PMID:19152422] comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. subset: hposlim_core synonym: "Ala nasi, underdeveloped" EXACT [] synonym: "Alar cartilage hypoplasia" EXACT [] synonym: "Decreased size of nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic alae nasae" EXACT [] synonym: "Hypoplastic alae nasi" EXACT [] synonym: "Hypoplastic alar cartilage" EXACT [] synonym: "Hypoplastic alar nasae" EXACT [] synonym: "Hypoplastic nares" EXACT [] synonym: "Hypoplastic nasal alae" EXACT [] synonym: "Hypoplastic nasal wings" EXACT [] synonym: "Hypoplastic nostrils" EXACT [] synonym: "Nasal cartilage hypoplasia" EXACT [] synonym: "Small nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin hypoplastic alae nasi" EXACT [] synonym: "Underdeveloped tissue around nostril" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1834055 is_a: HP:0000429 ! Abnormal morphology of the nasal alae is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose [Term] id: HP:0000431 name: Wide nasal bridge alt_id: HP:0000424 alt_id: HP:0004500 alt_id: HP:0004504 alt_id: HP:0004650 alt_id: HP:0200139 def: "Increased breadth of the nasal bridge (and with it, the nasal root)." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. synonym: "Broad flat nasal bridge" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Broad nasal bridge" EXACT layperson [] synonym: "Broad nasal root" EXACT layperson [] synonym: "Broadened nasal bridge" EXACT layperson [] synonym: "Increased breadth of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal bridge broad" EXACT layperson [] synonym: "Nasal bridge, wide" EXACT [] synonym: "Wide bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nasal bridge" EXACT layperson [] synonym: "Widened nasal bridge" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C1839764 xref: UMLS:C1849367 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0000433 name: Abnormal nasal mucosa morphology synonym: "Abnormality of mucosa of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of mucous membrane of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of nasal mucous membrane" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the nasal mucosa" EXACT layperson [] xref: UMLS:C4025854 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000434 name: Nasal mucosa telangiectasia def: "Telangiectasia of the nasal mucosa." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasia of mucosa of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Angioectasia of mucous membrane of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Angioectasia of nasal mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal mucous membrane telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of mucosa of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of mucous membrane of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of nasal mucous membrane" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of mucosa of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of mucous membrane of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of nasal mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025853 is_a: HP:0000433 ! Abnormal nasal mucosa morphology is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000436 name: Abnormal nasal tip morphology def: "An abnormality of the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. subset: hposlim_core synonym: "Abnormality of the nasal tip" EXACT layperson [] synonym: "Abnormality of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal tip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of tip of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal tip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of tip of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025852 is_a: HP:0010938 ! Abnormal external nose morphology [Term] id: HP:0000437 name: Depressed nasal tip alt_id: HP:0005279 def: "Decreased distance from the nasal tip to the nasal base." [PMID:19152422] comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. subset: hposlim_core synonym: "Caved in nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed nasal tip" EXACT layperson [] synonym: "Depressed tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nasal tip" EXACT layperson [] synonym: "Flat tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattened nasal tip" EXACT layperson [] synonym: "Nasal tip, depressed" EXACT layperson [] synonym: "Nasal tip, recessed" EXACT [] synonym: "Nasal tip, retruded" EXACT [] synonym: "Retruded tip of nose" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859717 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000444 name: Convex nasal ridge alt_id: HP:0003683 def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [PMID:19152422] subset: hposlim_core synonym: "Beaked nose" EXACT layperson [] synonym: "Beaklike protrusion" EXACT layperson [] synonym: "Convex dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Convex nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hooked nose" EXACT layperson [] synonym: "Polly beak nasal deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0240538 is_a: HP:0011119 ! Abnormal nasal dorsum morphology [Term] id: HP:0000445 name: Wide nose alt_id: HP:0000438 def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [PMID:19152422] subset: hposlim_core synonym: "Broad nose" EXACT layperson [] synonym: "Increased breadth of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal breadth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal width" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nose" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C0426421 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000446 name: Narrow nasal bridge alt_id: HP:0100782 def: "Decreased width of the bony bridge of the nose." [PMID:19152422] comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. subset: hposlim_core synonym: "Narrow bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nasal bridge" EXACT layperson [] synonym: "Narrow nasal root" EXACT [] synonym: "Nasal Bridge, Narrow" EXACT layperson [] synonym: "Nasal bridge, thin" EXACT layperson [] synonym: "Pinched bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pinched nasal bridge" RELATED layperson [] xref: UMLS:C4551564 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0000447 name: Pear-shaped nose synonym: "Pear-shaped nose" EXACT layperson [] xref: UMLS:C1853482 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000448 name: Prominent nose alt_id: HP:0000461 alt_id: HP:0005271 alt_id: HP:0200140 def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [PMID:19152422] subset: hposlim_core synonym: "Big nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Disproportionately large nose" EXACT layperson [] synonym: "Hyperplasia of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal size" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large nose" EXACT layperson [] synonym: "Nasal hyperplasia" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal hypertrophy" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nose" EXACT layperson [] synonym: "Pronounced nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249311009 xref: UMLS:C0426415 xref: UMLS:C1400105 xref: UMLS:C4280629 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000451 name: Triangular nasal tip synonym: "Triangular nasal tip" EXACT layperson [] synonym: "Triangular shaped tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839765 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000452 name: Choanal stenosis def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Coanal stenosis" EXACT [] synonym: "Narrowing of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:306963008 xref: UMLS:C0584837 is_a: HP:0000415 ! Abnormal choanae morphology [Term] id: HP:0000453 name: Choanal atresia alt_id: HP:0000416 alt_id: HP:0004496 alt_id: HP:0004503 def: "Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral." [https://orcid.org/0000-0001-5889-4463, PMID:4996574] subset: hposlim_core synonym: "Blockage of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4203 xref: SNOMEDCT_US:204508009 xref: UMLS:C0008297 is_a: HP:0000415 ! Abnormal choanae morphology [Term] id: HP:0000454 name: Flared nostrils synonym: "Flared nasal alae" EXACT [] synonym: "Flared nostrils" EXACT layperson [] xref: SNOMEDCT_US:21558008 xref: SNOMEDCT_US:248568003 xref: UMLS:C0277873 is_a: HP:0000429 ! Abnormal morphology of the nasal alae [Term] id: HP:0000455 name: Broad nasal tip alt_id: HP:0004501 alt_id: HP:0005269 def: "Increase in width of the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. synonym: "Broad nasal tip" EXACT layperson [] synonym: "Broad tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad upturned nose" RELATED layperson [] synonym: "Broad, upturned nose" EXACT layperson [] synonym: "Increased breadth of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal tip, broad" EXACT layperson [] synonym: "Nasal tip, wide" EXACT layperson [] synonym: "Wide tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249327002 xref: UMLS:C0426429 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000456 name: Bifid nasal tip alt_id: HP:0005282 def: "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [https://orcid.org/0009-0006-4530-3154, PMID:19152422] comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. synonym: "Bifid tip of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft tip of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Notched nasal tip" RELATED layperson [] synonym: "Notched tip of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249326006 xref: UMLS:C0426428 xref: UMLS:C4020890 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000457 name: Depressed nasal ridge def: "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. subset: hposlim_core synonym: "Depressed dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nose" EXACT layperson [] synonym: "Recessed dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Recessed nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Recessed nasal ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Retruded dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retruded nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retruded nasal ridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1842876 is_a: HP:0011119 ! Abnormal nasal dorsum morphology [Term] id: HP:0000458 name: Anosmia def: "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Loss of smell" EXACT [] synonym: "Lost smell" EXACT layperson [] xref: SNOMEDCT_US:44169009 xref: UMLS:C0003126 is_a: HP:0004408 ! Abnormality of the sense of smell [Term] id: HP:0000460 name: Narrow nose def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [PMID:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. synonym: "Decreased nasal breadth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased nasal width" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nose" EXACT layperson [] synonym: "Thin nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249322008 xref: UMLS:C0426422 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000463 name: Anteverted nares alt_id: HP:0000427 alt_id: HP:0000435 alt_id: HP:0000441 alt_id: HP:0004495 def: "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. synonym: "Anteverted nose" EXACT [] synonym: "Anteverted nostrils" EXACT [] synonym: "Nasal tip, upturned" EXACT layperson [] synonym: "Nostrils anteverted" EXACT [] synonym: "Upturned nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Upturned nasal tip" EXACT layperson [] synonym: "Upturned nasal tips" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Upturned nose" EXACT layperson [] synonym: "Upturned nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:708670007 xref: UMLS:C1840077 is_a: HP:0000429 ! Abnormal morphology of the nasal alae is_a: HP:0005288 ! Abnormal nostril morphology [Term] id: HP:0000464 name: Abnormality of the neck def: "An abnormality of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the neck" EXACT layperson [] synonym: "Anomaly of the neck" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:298390003 xref: SNOMEDCT_US:40052002 xref: UMLS:C0266623 xref: UMLS:C0575167 xref: UMLS:C4280628 is_a: HP:0000152 ! Abnormality of head or neck [Term] id: HP:0000465 name: Webbed neck def: "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [https://orcid.org/0000-0002-0736-9199, PMID:24523736] subset: hposlim_core synonym: "Neck webbing" EXACT layperson [] synonym: "Pterygium colli" EXACT [] synonym: "Webbed neck" EXACT layperson [] xref: SNOMEDCT_US:11731003 xref: UMLS:C0221217 is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000466 name: Limited neck range of motion synonym: "Limited cervical range of motion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Limited neck range of motion" EXACT layperson [] xref: UMLS:C1859212 is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0000467 name: Neck muscle weakness def: "Decreased strength of the neck musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Flaccid neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Floppy neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Neck muscle weakness" EXACT layperson [] xref: UMLS:C0240479 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0000468 name: Increased adipose tissue around the neck def: "An increased amount of subcutaneous fat tissue around the neck." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased fat around the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025850 is_a: HP:0009126 ! Increased adipose tissue is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000470 name: Short neck alt_id: HP:0005992 alt_id: HP:0200137 def: "Diminished length of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cervical shortening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased cervical height" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased cervical length" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short neck" EXACT layperson [] xref: SNOMEDCT_US:95427009 xref: UMLS:C0521525 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000471 name: Gastrointestinal angiodysplasia def: "Dysplasia affecting the vasculature of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "GI angiodysplasia" EXACT abbreviation [] xref: UMLS:C0854242 is_a: HP:0004296 ! Abnormal gastrointestinal vascular morphology [Term] id: HP:0000472 name: Long neck def: "Increased inferior-superior length of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cervical elongation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Elongated neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased cervical length" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long neck" EXACT layperson [] xref: UMLS:C1839816 is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000473 name: Torticollis def: "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [https://orcid.org/0000-0002-0736-9199] comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. synonym: "Cervical dystonia" EXACT [] synonym: "Loxia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Spasmodic torticollis" EXACT [] synonym: "Wry neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:270476009 xref: SNOMEDCT_US:70070008 xref: SNOMEDCT_US:74333002 xref: UMLS:C0040485 xref: UMLS:C0152116 xref: UMLS:C0949445 is_a: HP:0011006 ! Abnormal morphology of the musculature of the neck is_a: HP:0011442 ! Abnormal central motor function is_a: HP:0012179 ! Craniofacial dystonia [Term] id: HP:0000474 name: Thickened nuchal skin fold alt_id: HP:0000477 def: "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome." [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:30431620] comment: The measurement of nuchal fold (NF) thickness during the second trimester is considered to be one of the most sensitive and specific isolated ultrasound marker for the identification of suspected cases of trisomy 21. Thick NF may also be seen in other aneuploidies as well as Turner's syndrome, Noonan's syndrome, Roberts syndrome, Zellweger syndrome and with congenital heart disease and with pathogenic CNVs. A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). subset: hposlim_core synonym: "Excess nuchal skin" EXACT [] synonym: "Increased nuchal fold" EXACT [] synonym: "Increased nuchal fold thickness" EXACT [] synonym: "Thick nuchal fold" EXACT [] synonym: "Thickened nuchal skin" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened skin folds of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened skin over the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836940 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0025667 ! Fetal neck anomaly [Term] id: HP:0000475 name: Broad neck def: "Increased side-to-side width of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Broad neck" EXACT layperson [] synonym: "Increased width of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick neck" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853638 is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000476 name: Cystic hygroma def: "A cystic lymphatic lesion of the neck." [https://orcid.org/0000-0002-0736-9199] comment: Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck. synonym: "Cystic hygroma of the neck" EXACT [] xref: NCIT:C8965 xref: SNOMEDCT_US:399882002 xref: SNOMEDCT_US:40225001 xref: SNOMEDCT_US:423984004 xref: UMLS:C0206620 is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000478 name: Abnormality of the eye def: "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal eye" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the eye" EXACT layperson [] synonym: "Eye disease" RELATED layperson [] xref: SNOMEDCT_US:19416009 xref: SNOMEDCT_US:371405004 xref: SNOMEDCT_US:371409005 xref: UMLS:C0015393 xref: UMLS:C0015397 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000479 name: Abnormal retinal morphology alt_id: HP:0007938 def: "A structural abnormality of the retina." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal retina" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the retina" EXACT [] synonym: "Anomaly of the retina" EXACT [] synonym: "Retina issue" EXACT layperson [] synonym: "Retinal disease" RELATED [] xref: SNOMEDCT_US:29555009 xref: UMLS:C0035300 xref: UMLS:C0035309 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000480 name: Retinal coloboma alt_id: HP:0007808 def: "A notch or cleft of the retina." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hole in the back of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C3540764 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000481 name: Abnormal cornea morphology alt_id: HP:0007771 alt_id: HP:0007972 def: "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the cornea" EXACT [] synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] synonym: "Cornela disease" RELATED [] xref: UMLS:C1855670 xref: UMLS:C4020889 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000482 name: Microcornea alt_id: HP:0100688 def: "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [https://orcid.org/0000-0002-0736-9199] comment: Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood. subset: hposlim_core synonym: "Cornea of eye less than 10mm in diameter" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Decreased corneal diameter" EXACT [] xref: SNOMEDCT_US:26098002 xref: UMLS:C0266544 xref: UMLS:C1167713 is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000483 name: Astigmatism def: "A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. subset: hposlim_core synonym: "Abnormal curving of the cornea or lens of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Astigmatism" EXACT layperson [] xref: SNOMEDCT_US:82649003 xref: UMLS:C0004106 is_a: HP:0000539 ! Abnormality of refraction is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0000484 name: Hyperopic astigmatism def: "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:449734001 xref: UMLS:C1847524 is_a: HP:0000483 ! Astigmatism [Term] id: HP:0000485 name: Megalocornea alt_id: HP:0007660 def: "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Anterior megalophthalmos" EXACT [] synonym: "Enlarged cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased corneal diameter" EXACT [] synonym: "Macrocornea" EXACT [] xref: SNOMEDCT_US:204118005 xref: SNOMEDCT_US:268158009 xref: UMLS:C0344530 xref: UMLS:C1167712 is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000486 name: Strabismus alt_id: HP:0000487 def: "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:26319345] subset: hposlim_core synonym: "Cross-eyed" EXACT layperson [] synonym: "Squint" EXACT layperson [] synonym: "Squint eyes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:128602000 xref: SNOMEDCT_US:22066006 xref: UMLS:C0038379 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000487 name: obsolete Congenital strabismus is_obsolete: true replaced_by: HP:0000486 [Term] id: HP:0000488 name: Retinopathy def: "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Noninflammatory retina disease" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:29555009 xref: UMLS:C0035309 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000489 name: obsolete Abnormality of globe location or size is_obsolete: true consider: HP:0100886 consider: HP:0100887 [Term] id: HP:0000490 name: Deeply set eye alt_id: HP:0000663 def: "An eye that is more deeply recessed into the plane of the face than is typical." [PMID:19125427] comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. subset: hposlim_core synonym: "Deep set eye" EXACT layperson [] synonym: "Deep-set eyes" EXACT layperson [] synonym: "Deeply set eye" EXACT layperson [] synonym: "Enophthalmos" EXACT [] synonym: "Ocular depression" EXACT [] synonym: "Sunken eye" EXACT layperson [] synonym: "Sunken eyes" EXACT [] xref: SNOMEDCT_US:246923005 xref: SNOMEDCT_US:80093006 xref: UMLS:C0014306 xref: UMLS:C0423224 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000491 name: Keratitis def: "Inflammation of the cornea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Corneal inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:5888003 xref: UMLS:C0022568 is_a: HP:0011495 ! Abnormal corneal epithelium morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000492 name: Abnormal eyelid morphology alt_id: HP:0000285 def: "An abnormality of the eyelids." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the eyelid" EXACT layperson [] synonym: "Abnormality of the eyelids" EXACT layperson [] xref: UMLS:C4021803 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000493 name: Abnormal foveal morphology def: "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the fovea" EXACT [] xref: UMLS:C4025849 is_a: HP:0001103 ! Abnormal macular morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T01:29:00Z [Term] id: HP:0000494 name: Downslanted palpebral fissures alt_id: HP:0007714 alt_id: HP:0007908 def: "The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] subset: hposlim_core synonym: "Antimongoloid eye slant" EXACT [] synonym: "Antimongoloid slant of palpebral fissures" EXACT [] synonym: "Antimongoloid slanted palpebral fissures" EXACT [] synonym: "Down slanting palpebral fissures" EXACT [] synonym: "Down-slanted palpebral fissures" EXACT [] synonym: "Down-slanting palpebral fissure" EXACT [] synonym: "Down-slanting palpebral fissures" EXACT [] synonym: "Downslanting palpebral fissure" EXACT [] synonym: "Downslanting palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Downward slanted palpebral fissures" EXACT [] synonym: "Downward slanting of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Downward slanting palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] xref: SNOMEDCT_US:246800008 xref: UMLS:C0423110 is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000495 name: Recurrent corneal erosions alt_id: HP:0007674 alt_id: HP:0007749 def: "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [https://orcid.org/0000-0002-0736-9199] synonym: "Corneal erosions, recurrent" EXACT [] synonym: "Epithelial corneal erosions" RELATED [] synonym: "Recurrent breakdown of clear protective layer of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Recurrent corneal ulceration" EXACT [] synonym: "Recurrent corneal ulcerations" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:2055003 xref: SNOMEDCT_US:91514001 xref: UMLS:C0010043 xref: UMLS:C0155119 xref: UMLS:C4020888 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0000496 name: Abnormality of eye movement alt_id: HP:0006860 def: "An abnormality in voluntary or involuntary eye movements or their control." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal extraocular movement" EXACT [] synonym: "Abnormal extraocular movements" EXACT [] synonym: "Abnormal eye motility" EXACT [] synonym: "Abnormal eye movement" EXACT layperson [] synonym: "Abnormal eye movements" EXACT layperson [] synonym: "Abnormal motility of the globe of the eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal movement of the globe of the eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal ocular movements" EXACT [] synonym: "Abnormality of eye movement" EXACT layperson [] synonym: "Eye movement abnormalities" EXACT layperson [] synonym: "Eye movement issue" EXACT layperson [] synonym: "Ocular movement abnormalities" EXACT [] synonym: "Oculomotor abnormalities" EXACT [] xref: SNOMEDCT_US:103252009 xref: UMLS:C0497202 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000497 name: Globe retraction and deviation on abduction xref: UMLS:C4025848 is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000498 name: Blepharitis def: "Inflammation of the eyelids." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cellulitis of eyelids" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Inflammation of eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:231796003 xref: SNOMEDCT_US:41446000 xref: UMLS:C0005741 xref: UMLS:C0339063 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000499 name: Abnormal eyelash morphology alt_id: HP:0004530 def: "An abnormality of the eyelashes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal eyelashes" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the eyelashes" EXACT layperson [] synonym: "Eyelash abnormality" EXACT layperson [] xref: UMLS:C2675111 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0001595 ! Abnormal hair morphology [Term] id: HP:0000501 name: Glaucoma def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [https://orcid.org/0000-0002-0736-9199, PMID:11815354] comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognized at the superior and inferior poles of the optic disc. The vertical cup:disk ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. subset: hposlim_core xref: SNOMEDCT_US:23986001 xref: UMLS:C0017601 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000502 name: Abnormal conjunctiva morphology def: "An abnormality of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] comment: The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). subset: hposlim_core xref: UMLS:C4025847 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000503 name: Tortuosity of conjunctival vessels def: "The presence of an increased number of twists and turns of the conjunctival blood vessels." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855391 is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature [Term] id: HP:0000504 name: Abnormality of vision def: "Abnormality of eyesight (visual perception)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of sight" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of vision" EXACT layperson [] synonym: "Vision issue" EXACT layperson [] xref: UMLS:C4025846 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000505 name: Visual impairment alt_id: HP:0000516 alt_id: HP:0000566 alt_id: HP:0007758 alt_id: HP:0007860 alt_id: HP:0007983 def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [https://orcid.org/0000-0001-8727-6592] subset: hposlim_core synonym: "Impaired vision" EXACT layperson [] synonym: "Loss of eyesight" EXACT layperson [] synonym: "Poor vision" EXACT layperson [] synonym: "Visual impairment" EXACT layperson [] xref: SNOMEDCT_US:246635007 xref: SNOMEDCT_US:397540003 xref: SNOMEDCT_US:7973008 xref: UMLS:C0042798 xref: UMLS:C3665347 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000506 name: Telecanthus def: "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [https://orcid.org/0000-0002-0736-9199] comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. subset: hposlim_core synonym: "Corners of eye widely separated" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dystopia canthorum" EXACT [] synonym: "Increased distance between medial canthi" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased intercanthal distance" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:246803005 xref: UMLS:C0423113 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000508 name: Ptosis def: "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] subset: hposlim_core synonym: "Blepharoptosis" EXACT [] synonym: "Drooping upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Eye drop" RELATED layperson [] synonym: "Eyelid ptosis" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Palpebral ptosis" EXACT [] xref: SNOMEDCT_US:11934000 xref: UMLS:C0005745 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000509 name: Conjunctivitis def: "Inflammation of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Conjunctivitis, recurrent" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Pink eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:9826008 xref: UMLS:C0009763 xref: UMLS:C1864156 is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0025337 ! Red eye is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000510 name: Rod-cone dystrophy alt_id: HP:0000547 alt_id: HP:0001127 alt_id: HP:0007635 alt_id: HP:0007645 alt_id: HP:0007742 alt_id: HP:0007816 alt_id: HP:0007826 alt_id: HP:0007927 alt_id: HP:0008036 def: "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [https://orcid.org/0000-0002-0736-9199, PMID:20212494] comment: Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. subset: hposlim_core synonym: "Retinitis pigmentosa" EXACT [] synonym: "Rod cone dystrophy" EXACT [] xref: SNOMEDCT_US:28835009 xref: UMLS:C0035334 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000511 name: Vertical supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [https://orcid.org/0000-0002-0736-9199, PMID:20671861] comment: Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze. synonym: "Vertical gaze palsy" EXACT [] synonym: "VSGP" EXACT abbreviation [] xref: SNOMEDCT_US:246773002 xref: UMLS:C0339652 xref: UMLS:C1843369 is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0000512 name: Abnormal electroretinogram alt_id: HP:0003285 def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [https://orcid.org/0000-0002-0736-9199] comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. subset: hposlim_core synonym: "Abnormal electroretinography" EXACT [] synonym: "Abnormal ERG" EXACT [] synonym: "ERG abnormal" EXACT [] xref: SNOMEDCT_US:274524001 xref: UMLS:C0476397 is_a: HP:0030453 ! Abnormal visual electrophysiology [Term] id: HP:0000514 name: Slow saccadic eye movements def: "An abnormally slow velocity of the saccadic eye movements." [https://orcid.org/0000-0002-0736-9199] comment: Saccades are rapid eye movements that align the fovea with the target. subset: hposlim_core synonym: "Slow eye movements" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Slow saccades" EXACT [] synonym: "Slow visual tracking" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:404686001 xref: UMLS:C1321329 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000517 name: Abnormal lens morphology def: "An abnormality of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the lens" EXACT layperson [] synonym: "Lens disease" RELATED layperson [] synonym: "Lens issue" EXACT layperson [] xref: SNOMEDCT_US:10810001 xref: UMLS:C0023308 xref: UMLS:C0549651 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000518 name: Cataract alt_id: HP:0001113 alt_id: HP:0007825 alt_id: HP:0010700 def: "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [https://orcid.org/0000-0002-0736-9199] comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). subset: hposlim_core synonym: "Cataracts" EXACT [] synonym: "Clouding of the lens of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Cloudy lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Lens opacities" EXACT [] synonym: "Lens opacity" EXACT [] xref: Fyler:4865 xref: SNOMEDCT_US:128306009 xref: SNOMEDCT_US:193570009 xref: SNOMEDCT_US:247053007 xref: UMLS:C0086543 xref: UMLS:C1510497 is_a: HP:0000517 ! Abnormal lens morphology [Term] id: HP:0000519 name: Developmental cataract alt_id: HP:0001108 alt_id: HP:0007679 alt_id: HP:0007692 alt_id: HP:0007726 alt_id: HP:0007788 def: "A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens." [https://orcid.org/0000-0002-0736-9199] comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. subset: hposlim_core synonym: "Bilateral congenital cataracts" EXACT [] synonym: "Cataract, congenital" EXACT [] synonym: "Clouding of the lens of the eye at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Congenital cataract" EXACT [] synonym: "Congenital cataracts" EXACT [] synonym: "Congenital cataracts, bilateral" EXACT [] xref: SNOMEDCT_US:609587005 xref: SNOMEDCT_US:79410001 xref: UMLS:C0009691 xref: UMLS:C3277059 is_a: HP:0000518 ! Cataract is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0000520 name: Proptosis alt_id: HP:0000536 alt_id: HP:0000644 alt_id: HP:0000645 alt_id: HP:0007711 alt_id: HP:0007870 def: "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [https://orcid.org/0009-0006-4530-3154, PMID:19125427] comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. subset: hposlim_core synonym: "Anterior bulging of the globe" EXACT [] synonym: "Anterior bulging of the globe of eye" EXACT [] synonym: "Bulging eye" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Exophthalmos" EXACT [] synonym: "Eyeballs bulging out" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ocular proptosis" EXACT [] synonym: "Prominent eyes" EXACT layperson [] synonym: "Prominent globes" EXACT layperson [] synonym: "Protruding eyes" EXACT layperson [] synonym: "Protrusio bulbi" EXACT [] xref: SNOMEDCT_US:18265008 xref: UMLS:C0015300 xref: UMLS:C1837760 xref: UMLS:C1848490 xref: UMLS:C1862425 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000522 name: Alacrima def: "Absence of tear secretion." [https://orcid.org/0000-0002-0736-9199] comment: Alacrima is generally a congenital deficiency. subset: hposlim_core synonym: "Absence of tears in the eyes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Absent lacrimal fluids" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Absent tear secretion" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:253215004 xref: UMLS:C0344505 is_a: HP:0000633 ! Decreased lacrimation [Term] id: HP:0000523 name: Subcapsular cataract alt_id: HP:0001490 alt_id: HP:0007978 def: "A cataract that affects the region of the lens directly beneath the capsule of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Subcapsular cataracts" EXACT [] synonym: "Subcapsular lenticular cataracts" EXACT [] synonym: "Subcapsular opacities" EXACT [] xref: SNOMEDCT_US:95723009 xref: UMLS:C0235259 is_a: HP:0000518 ! Cataract [Term] id: HP:0000524 name: Conjunctival telangiectasia def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Conjunctival telangiectases" EXACT [] synonym: "Small dilated blood vessels near membrane covering front of eye and eyelids" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Telangiectasia, conjunctival" EXACT [] xref: SNOMEDCT_US:231870008 xref: UMLS:C0239105 is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000525 name: Abnormality iris morphology def: "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the iris" EXACT layperson [] xref: UMLS:C4025845 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000526 name: Aniridia alt_id: HP:0011498 def: "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:24138039, PMID:25313118, PMID:29850208] subset: hposlim_core synonym: "Absent iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:69278003 xref: UMLS:C0003076 is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0000527 name: Long eyelashes alt_id: HP:0000500 def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [PMID:19125427, PMID:26288407] comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. subset: hposlim_core synonym: "Ciliary trichomegaly" EXACT [] synonym: "Eyelash trichomegaly" EXACT [] synonym: "Increased length of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long eyelashes" EXACT layperson [] synonym: "Unusually long eyelashes" EXACT layperson [] xref: UMLS:C1853738 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0000528 name: Anophthalmia alt_id: HP:0001485 alt_id: HP:0007664 def: "Absence of the globe or eyeball." [HPO_CONTRIBUTOR:DDD_ncarter] subset: hposlim_core synonym: "Absence of eyeballs" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of globes of eyes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anophthalmia, clinical" EXACT [] synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT [] synonym: "Failure of development of eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing eyeball" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Missing globe of eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "No eyeball" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "No globe of eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Ocular absence" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: Fyler:4864 xref: SNOMEDCT_US:204099004 xref: SNOMEDCT_US:7183006 xref: UMLS:C0003119 is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000529 name: Progressive visual loss alt_id: HP:0000560 alt_id: HP:0007735 alt_id: HP:0007753 alt_id: HP:0007967 def: "A reduction of previously attained ability to see." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased visual acuity, progressive" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Loss of visual acuity" EXACT [] synonym: "Progressive loss of vision" EXACT layperson [] synonym: "Progressive vision loss" EXACT layperson [] synonym: "Progressive visual acuity loss" EXACT [] synonym: "Progressive visual impairment" EXACT layperson [] synonym: "Slowly progressive visual loss" EXACT layperson [] synonym: "Vision loss, progressive" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Visual loss, progressive" EXACT layperson [] xref: UMLS:C1839364 xref: UMLS:C3277697 is_a: HP:0000572 ! Visual loss [Term] id: HP:0000531 name: Corneal crystals synonym: "Corneal deposits" EXACT [] xref: UMLS:C1096610 is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0000532 name: Abnormal chorioretinal morphology alt_id: HP:0001145 alt_id: HP:0007888 def: "An abnormality of the choroid and retina." [https://orcid.org/0000-0002-0736-9199] comment: The choroid is the vascular layer of the eye, located between the retina and the sclera. synonym: "Chorioretinal abnormality" EXACT [] xref: UMLS:C4025844 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0000610 ! Abnormal choroid morphology [Term] id: HP:0000533 name: Chorioretinal atrophy alt_id: HP:0001150 alt_id: HP:0007884 alt_id: HP:0007918 alt_id: HP:0007931 def: "Atrophy of the choroid and retinal layers of the fundus." [https://orcid.org/0000-0002-0736-9199, PMID:20224472] comment: Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy. synonym: "Chorioretinal thinning" EXACT [] xref: SNOMEDCT_US:95686007 xref: UMLS:C4048273 is_a: HP:0200065 ! Chorioretinal degeneration [Term] id: HP:0000534 name: Abnormal eyebrow morphology def: "An abnormality of the eyebrow." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the eyebrow" EXACT layperson [] xref: UMLS:C4011556 is_a: HP:0001595 ! Abnormal hair morphology is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000535 name: obsolete Sparse and thin eyebrow is_obsolete: true replaced_by: HP:0045074 replaced_by: HP:0045075 [Term] id: HP:0000537 name: Epicanthus inversus def: "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." [PMID:19125427] subset: hposlim_core xref: SNOMEDCT_US:400956000 xref: UMLS:C1303003 is_a: HP:0000286 ! Epicanthus [Term] id: HP:0000538 name: Pseudopapilledema def: "Apparent optic disc swelling in the absence of increased intracranial pressure." [https://orcid.org/0000-0002-0736-9199] comment: Papilledema is disk edema secondary to increased intracranial pressure. subset: hposlim_core xref: SNOMEDCT_US:57138009 xref: UMLS:C0155300 is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0000539 name: Abnormality of refraction def: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025843 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000540 name: Hypermetropia def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [https://orcid.org/0000-0002-0736-9199] comment: The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). subset: hposlim_core synonym: "Farsightedness" EXACT layperson [] synonym: "Hyperopia" EXACT [] synonym: "Long-sightedness" EXACT layperson [] xref: SNOMEDCT_US:38101003 xref: UMLS:C0020490 is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000541 name: Retinal detachment alt_id: HP:0007864 alt_id: HP:0008021 def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Detached retina" EXACT layperson [] synonym: "Retinal detachment" EXACT layperson [] xref: SNOMEDCT_US:42059000 xref: UMLS:C0035305 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000542 name: Impaired ocular adduction def: "Reduced ability to move the eye in the direction of the nose." [https://orcid.org/0000-0002-0736-9199] comment: Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement). xref: UMLS:C1846463 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000543 name: Optic disc pallor alt_id: HP:0001148 alt_id: HP:0001484 def: "A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [https://orcid.org/0000-0002-0736-9199] comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. subset: hposlim_core synonym: "Disc pallor" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Pale optic disc" EXACT [] synonym: "Pale optic discs" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:302200001 xref: UMLS:C0554970 is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0000544 name: External ophthalmoplegia alt_id: HP:0007762 def: "Paralysis of the external ocular muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic progressive external ophthalmoplegia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "CPEO" EXACT abbreviation [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-5316-1399] synonym: "Ophthalmoplegia externa" EXACT [] synonym: "Paralysis or weakness of muscles within or surrounding outer part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Progressive paralysis or weakness of muscles of eye motility" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Progressive paralysis or weakness of muscles of eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:19373007 xref: SNOMEDCT_US:46252003 xref: UMLS:C0162292 xref: UMLS:C0162674 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000545 name: Myopia alt_id: HP:0001110 alt_id: HP:0007847 alt_id: HP:0008012 def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Close sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Near sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Near sightedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Nearsightedness" EXACT layperson [] xref: SNOMEDCT_US:57190000 xref: UMLS:C0027092 is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000546 name: Retinal degeneration alt_id: HP:0007632 alt_id: HP:0007790 alt_id: HP:0007863 alt_id: HP:0007893 def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] subset: hposlim_core synonym: "Retina degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95695004 xref: UMLS:C0035304 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000547 name: obsolete Tapetoretinal degeneration synonym: "Retinotapetal degeneration" EXACT [] is_obsolete: true replaced_by: HP:0000510 [Term] id: HP:0000548 name: Cone/cone-rod dystrophy alt_id: HP:0008157 synonym: "Cone rod dystrophy" EXACT [] synonym: "Cone-rod retinal dystrophy" EXACT [] is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000549 name: Abnormal conjugate eye movement def: "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object." [https://orcid.org/0000-0002-0736-9199] synonym: "Disconjugate eye movements" EXACT [] xref: UMLS:C1845274 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000550 name: Undetectable electroretinogram alt_id: HP:0008042 def: "Lack of any response to stimulation upon electroretinography." [https://orcid.org/0000-0002-0736-9199] synonym: "Abolished electroretinogram" EXACT [] synonym: "Absent electroretinogram" EXACT [] synonym: "Extinction of electroretinogram" EXACT [] synonym: "Extinguished electroretinogram" EXACT [] synonym: "No light-evoked response on electroretinogram" EXACT [] synonym: "Undetectable ERG" EXACT [] xref: UMLS:C1855685 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000551 name: Color vision defect def: "An anomaly in the ability to discriminate between or recognize colors." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal color vision" EXACT layperson [] synonym: "Abnormal colour vision" EXACT uk_spelling [] synonym: "Abnormality of color vision" EXACT layperson [] synonym: "Abnormality of colour vision" EXACT uk_spelling [] synonym: "Color vision defect, severe" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Color vision defects" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Colour vision defect" EXACT uk_spelling [] synonym: "Colour vision defect, severe" RELATED uk_spelling [] synonym: "Colour vision defects" RELATED uk_spelling [] synonym: "Disturbed color vision" EXACT [] synonym: "Disturbed colour vision" EXACT uk_spelling [] synonym: "Loss in color vision" RELATED [] synonym: "Loss in colour vision" RELATED uk_spelling [] xref: SNOMEDCT_US:23289000 xref: SNOMEDCT_US:367469000 xref: UMLS:C0009398 xref: UMLS:C0234629 xref: UMLS:C3552853 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000552 name: Tritanomaly def: "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [https://orcid.org/0000-0002-0736-9199] synonym: "Blue yellow color blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Blue yellow colour blindness" EXACT uk_spelling [] synonym: "Blue-yellow dyschromatopsia" EXACT [] synonym: "Blue/yellow color vision defect" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Blue/yellow colour vision defect" RELATED uk_spelling [] synonym: "Dyschromatopsia, blue-yellow" EXACT [] xref: SNOMEDCT_US:51886007 xref: SNOMEDCT_US:85049009 xref: UMLS:C0155017 xref: UMLS:C1970167 is_a: HP:0011519 ! Anomalous trichromacy [Term] id: HP:0000553 name: Abnormal uvea morphology def: "An abnormality of the uvea, the vascular layer of the eyeball." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the uvea" EXACT [] xref: UMLS:C4025842 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000554 name: Uveitis def: "Inflammation of one or all portions of the uveal tract." [https://orcid.org/0000-0002-0736-9199] comment: The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. subset: hposlim_core xref: SNOMEDCT_US:128473001 xref: UMLS:C0042164 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000555 name: Leukocoria def: "An abnormal white reflection from the pupil rather than the usual black reflection." [https://orcid.org/0000-0002-0736-9199] comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). synonym: "Leukokoria" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "White pupillary reflex" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:1361009 xref: UMLS:C0152458 is_a: HP:0000615 ! Abnormal pupil morphology [Term] id: HP:0000556 name: Retinal dystrophy alt_id: HP:0007736 alt_id: HP:0007910 alt_id: HP:0007974 alt_id: HP:0007982 def: "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [https://orcid.org/0000-0003-0986-4123] synonym: "Breakdown of light-sensitive cells in back of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:314407005 xref: UMLS:C0854723 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000557 name: Buphthalmos def: "Diffusely large eye (with megalocornea) associated with glaucoma." [] comment: Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. subset: hposlim_core synonym: "Enlarged eyeball" EXACT layperson [https://en.wikipedia.org/wiki/buphthalmos, https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4551507 is_a: HP:0001087 ! Developmental glaucoma is_a: HP:0001090 ! Abnormally large globe [Term] id: HP:0000558 name: Rieger anomaly def: "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [https://orcid.org/0000-0002-0736-9199] comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. xref: SNOMEDCT_US:47507006 xref: UMLS:C0265341 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0000559 name: Corneal scarring xref: SNOMEDCT_US:95726001 xref: UMLS:C0349702 is_a: HP:0007957 ! Corneal opacity is_a: HP:0100699 ! Scarring [Term] id: HP:0000561 name: Absent eyelashes alt_id: HP:0002288 alt_id: HP:0004516 alt_id: HP:0004539 alt_id: HP:0007926 def: "Lack of eyelashes." [https://orcid.org/0000-0002-0736-9199, PMID:19125427] comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. subset: hposlim_core synonym: "Absent eyelashes" EXACT layperson [] synonym: "Agenesis of eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Atrichia of eyelashes" EXACT [] synonym: "Failure of development of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1843005 xref: UMLS:C4280626 xref: UMLS:C4280627 is_a: HP:0002550 ! Absent facial hair is_a: HP:0200102 ! Sparse or absent eyelashes [Term] id: HP:0000563 name: Keratoconus def: "A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex." [https://orcid.org/0000-0002-0736-9199, PMID:7767020] comment: Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. subset: hposlim_core synonym: "Bulging cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Conical cornea" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:65636009 xref: UMLS:C0022578 is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0000564 name: Lacrimal duct atresia alt_id: HP:0007729 def: "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [https://orcid.org/0000-0002-0736-9199] synonym: "Imperforate nasolacrimal ducts" EXACT [] synonym: "Nasolacrimal duct atresia" EXACT [] synonym: "Unopened tear duct" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:278530008 xref: UMLS:C0344511 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0000565 name: Esotropia def: "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [https://orcid.org/0000-0002-0736-9199] comment: Esotropia is analogous to but more severe than esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. subset: hposlim_core synonym: "Inward turning cross eyed" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:16596007 xref: UMLS:C0014877 is_a: HP:0020045 ! Esodeviation is_a: HP:0032012 ! Heterotropia [Term] id: HP:0000567 name: Chorioretinal coloboma alt_id: HP:0000611 alt_id: HP:0007718 alt_id: HP:0007784 alt_id: HP:0007956 def: "Absence of a region of the retina, retinal pigment epithelium, and choroid." [https://orcid.org/0000-0002-0736-9199] synonym: "Birth defect that causes a hole in the innermost layer at the back of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Choroid coloboma" RELATED [] synonym: "Choroidal coloboma" RELATED [] synonym: "Choroidoretinal coloboma" EXACT [] synonym: "Coloboma of choroid" RELATED [] xref: SNOMEDCT_US:39302008 xref: UMLS:C0240896 is_a: HP:0000532 ! Abnormal chorioretinal morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000568 name: Microphthalmia alt_id: HP:0007996 def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormally small eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally small globe of eye" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of eyeball" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of globe of eye" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Microphthalmos" EXACT [] synonym: "Nanophthalmos" RELATED [] xref: Fyler:4877 xref: SNOMEDCT_US:204108000 xref: SNOMEDCT_US:61142002 xref: UMLS:C0026010 xref: UMLS:C4280625 xref: UMLS:C4280808 is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000570 name: Abnormal saccadic eye movements alt_id: HP:0000604 def: "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements." [https://orcid.org/0000-0002-0736-9199] comment: Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. synonym: "Abnormality of saccadic eye movements" EXACT [] synonym: "Impaired saccades" RELATED [] xref: UMLS:C1842584 xref: UMLS:C4025841 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000571 name: Hypometric saccades def: "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [https://orcid.org/0000-0002-0736-9199, PMID:572501] xref: SNOMEDCT_US:246768008 xref: UMLS:C0423082 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000572 name: Visual loss def: "Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [https://orcid.org/0009-0006-4530-3154] synonym: "Loss of vision" EXACT layperson [] synonym: "Vision loss" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Visual loss" EXACT layperson [] xref: SNOMEDCT_US:7973008 xref: UMLS:C3665386 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000573 name: Retinal hemorrhage def: "Hemorrhage occurring within the retina." [HPO_CONTRIBUTOR:gcarletti] comment: The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. subset: hposlim_core synonym: "Retinal bleeding" EXACT layperson [] synonym: "Retinal haemorrhage" EXACT uk_spelling [] synonym: "Retinal haemorrhages" EXACT uk_spelling [] synonym: "Retinal hemorrhages" EXACT plural_form [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:28998008 xref: UMLS:C0035317 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0011885 ! Hemorrhage of the eye is_a: HP:0031803 ! Fundus hemorrhage [Term] id: HP:0000574 name: Thick eyebrow alt_id: HP:0004546 def: "Increased density/number and/or increased diameter of eyebrow hairs." [PMID:19125427] comment: Thickness can be regional (medial, middle/central, lateral) or total. subset: hposlim_core synonym: "Bushy eyebrows" EXACT layperson [] synonym: "Dense eyebrow" EXACT layperson [] synonym: "Heavy eyebrows" EXACT layperson [] synonym: "Hypertrichosis of the eyebrow" EXACT [] synonym: "Hypertrichosis of the eyebrows" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Prominent eyebrows" EXACT layperson [] synonym: "Thick eyebrow" EXACT layperson [] synonym: "Thick eyebrows" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1853487 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0000575 name: Scotoma def: "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blind spot" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:23388006 xref: SNOMEDCT_US:81016008 xref: UMLS:C0036454 xref: UMLS:C0344233 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0000576 name: Centrocecal scotoma def: "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:33014001 xref: UMLS:C0271196 is_a: HP:0000575 ! Scotoma [Term] id: HP:0000577 name: Exotropia alt_id: HP:0008033 def: "A form of strabismus with one or both eyes deviated outward." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Outward facing eye ball" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:399054005 xref: SNOMEDCT_US:399252000 xref: UMLS:C0015310 is_a: HP:0020049 ! Exodeviation is_a: HP:0032012 ! Heterotropia [Term] id: HP:0000579 name: Nasolacrimal duct obstruction def: "Blockage of the lacrimal duct." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blocked tear duct" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Lacrimal duct obstruction" EXACT [] xref: SNOMEDCT_US:231841004 xref: SNOMEDCT_US:246865000 xref: SNOMEDCT_US:314022009 xref: SNOMEDCT_US:416920000 xref: UMLS:C0022906 xref: UMLS:C1281931 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0000580 name: Pigmentary retinopathy alt_id: HP:0001146 alt_id: HP:0007702 alt_id: HP:0007821 alt_id: HP:0007852 alt_id: HP:0007869 alt_id: HP:0007934 alt_id: HP:0007961 alt_id: HP:0008010 def: "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [https://orcid.org/0000-0003-0986-4123] synonym: "Pigmentary retinal deposits" EXACT [] synonym: "Retinal pigment clumping" EXACT [] synonym: "Retinal pigmentary clumping" EXACT [] synonym: "Retinal pigmentary degeneration" EXACT [] xref: SNOMEDCT_US:28835009 xref: UMLS:C0035334 is_a: HP:0007703 ! Abnormality of retinal pigmentation [Term] id: HP:0000581 name: Blepharophimosis alt_id: HP:0000507 alt_id: HP:0000513 def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [PMID:19125427] comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus. subset: hposlim_core synonym: "Decreased width of palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0005744 is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000582 name: Upslanted palpebral fissure def: "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [PMID:19125427] subset: hposlim_core synonym: "Mongoloid slant" EXACT [] synonym: "Upslanted palpebral fissures" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Upslanting palpebral fissures" EXACT [] synonym: "Upward slanted palpebral fissures" EXACT [] synonym: "Upward slanting of palpebral fissures" EXACT [] synonym: "Upward slanting of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upward slanting palpebral fissures" EXACT [] xref: SNOMEDCT_US:246799009 xref: UMLS:C0423109 is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000584 name: Punctate corneal epithelial erosions xref: UMLS:C1832170 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0000585 name: Band keratopathy def: "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Calcific band keratopathy" EXACT [] xref: SNOMEDCT_US:35055000 xref: UMLS:C0155120 is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0000586 name: Shallow orbits alt_id: HP:0002706 def: "Reduced depth of the orbits associated with prominent-appearing ocular globes." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased depth of eye sockets" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased depth of orbits" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Shallow eye sockets" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small shallow orbits" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1865244 is_a: HP:0000520 ! Proptosis is_a: HP:3000030 ! Abnormal morphology of bony orbit of skull [Term] id: HP:0000587 name: Abnormal optic nerve morphology def: "Abnormality of the optic nerve." [https://orcid.org/0000-0002-0736-9199] comment: The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. subset: hposlim_core synonym: "Abnormality of the optic nerve" EXACT [] synonym: "optic nerve abnormalities" EXACT [] synonym: "Optic nerve issue" EXACT layperson [] xref: UMLS:C0029131 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000588 name: Optic disc coloboma alt_id: HP:0007997 def: "A cleft of the optic nerve that extends inferiorly." [https://orcid.org/0000-0002-0736-9199, PMID:16219745] comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. subset: hposlim_core synonym: "Coloboma of optic nerve" EXACT [] synonym: "Optic disc coloboma" EXACT [] synonym: "Optic nerve coloboma" EXACT [] xref: SNOMEDCT_US:17541006 xref: SNOMEDCT_US:44295002 xref: UMLS:C0155299 is_a: HP:0000589 ! Coloboma is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0000589 name: Coloboma alt_id: HP:0007767 alt_id: HP:0007995 def: "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa." [https://orcid.org/0000-0002-0736-9199] synonym: "Notched pupil" EXACT layperson [] synonym: "Ocular coloboma" EXACT [] synonym: "Ocular colobomas" EXACT [] xref: Fyler:4311 xref: SNOMEDCT_US:92828000 xref: SNOMEDCT_US:93390002 xref: UMLS:C0009363 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000590 name: Progressive external ophthalmoplegia alt_id: HP:0000562 def: "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades." [https://orcid.org/0000-0002-0736-9199] comment: Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. synonym: "External ophthalmoplegia, progressive" EXACT [] xref: SNOMEDCT_US:46252003 xref: UMLS:C0162674 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0000591 name: Abnormal sclera morphology def: "An abnormality of the sclera." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the outer white part of eyeball" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the sclera" EXACT [] xref: UMLS:C4025840 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000592 name: Blue sclerae def: "An abnormal bluish coloration of the sclera." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blue outer white part of eyeball" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Blue sclera" EXACT [] synonym: "Bluish sclerae" EXACT [] synonym: "Gray sclerae" EXACT [] synonym: "Grey sclerae" EXACT uk_spelling [] synonym: "Whites of eyes are a bluish-gray color" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Whites of eyes are a bluish-gray colour" EXACT uk_spelling [] xref: SNOMEDCT_US:204164000 xref: UMLS:C0542514 is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0000593 name: Abnormal anterior chamber morphology def: "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the anterior chamber" EXACT [] synonym: "Anterior chamber anomalies" EXACT [] synonym: "Ocular anterior chamber abnormality" EXACT [] xref: SNOMEDCT_US:204142009 xref: UMLS:C3152182 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000594 name: Shallow anterior chamber alt_id: HP:0007756 def: "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:246986004 xref: UMLS:C0423276 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0000597 name: Ophthalmoparesis alt_id: HP:0007701 alt_id: HP:0008044 def: "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [https://orcid.org/0000-0002-0736-9199] synonym: "Extraocular muscle palsy" EXACT [] synonym: "Extraocular muscle paralysis" EXACT [] synonym: "Weakness of extraocular eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Weakness of muscles controlling eye movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C0751401 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000598 name: Abnormality of the ear def: "An abnormality of the ear." [https://orcid.org/0000-0002-0736-9199] comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. subset: hposlim_core synonym: "Abnormality of the ear" EXACT layperson [] synonym: "Ear anomaly" EXACT [] xref: SNOMEDCT_US:275259005 xref: UMLS:C0266589 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000599 name: Abnormality of the frontal hairline def: "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of hairline at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the frontal hairline" EXACT layperson [] xref: UMLS:C4025839 is_a: HP:0000290 ! Abnormal forehead morphology is_a: HP:0009553 ! Abnormality of the hairline property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T05:34:00Z [Term] id: HP:0000600 name: Abnormality of the pharynx def: "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly." [https://orcid.org/0000-0002-0736-9199] comment: The pharynx is tubular structure extending from base of skull superiorly to esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. xref: UMLS:C4025838 is_a: HP:0002087 ! Abnormality of the upper respiratory tract [Term] id: HP:0000601 name: Hypotelorism alt_id: HP:0007877 def: "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [https://orcid.org/0000-0002-0736-9199, PMID:19125427] subset: hposlim_core synonym: "Abnormally close eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Closely spaced eyes" EXACT layperson [] synonym: "Decreased distance between eye sockets" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased distance between eyes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased interpupillary distance" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased orbital separation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Ocular hypotelorism" EXACT [] xref: SNOMEDCT_US:44593008 xref: UMLS:C0424711 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000602 name: Ophthalmoplegia def: "Paralysis of one or more extraocular muscles that are responsible for eye movements." [https://orcid.org/0000-0002-0736-9199] synonym: "Eye muscle paralysis" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Paralysis of extraocular eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:16110005 xref: UMLS:C0029089 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000603 name: Central scotoma def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blind spot located at fixation point" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Central blind spot" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Central scotomata" EXACT [] xref: SNOMEDCT_US:38950008 xref: UMLS:C0152191 xref: UMLS:C4280624 is_a: HP:0000575 ! Scotoma [Term] id: HP:0000605 name: Supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Supranuclear gaze paralysis" EXACT [] xref: SNOMEDCT_US:420675003 xref: UMLS:C1720037 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000606 name: Abnormality of the periorbital region def: "An abnormality of the region situated around the orbit of the eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the region around the eye" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the region around the eye socket" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025837 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000607 name: Periorbital wrinkles synonym: "Excess periorbital skin wrinkling" EXACT [] synonym: "Periorbital rhytids" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Periorbital wrinkling" EXACT [] synonym: "Wrinkles around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844605 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0000608 name: Macular degeneration alt_id: HP:0007694 alt_id: HP:0007868 def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] synonym: "Pigmented macular degeneration" EXACT [] xref: SNOMEDCT_US:422338006 xref: UMLS:C0024437 is_a: HP:0000546 ! Retinal degeneration is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0000609 name: Optic nerve hypoplasia alt_id: HP:0007273 def: "Underdevelopment of the optic nerve." [https://orcid.org/0000-0002-0736-9199, PMID:31238457] comment: Double ring sign of optic nerve head is a characteristic fundus finding in cases with optic nerve head hypoplasia. synonym: "Double ring sign" RELATED [] synonym: "Hypoplastic optic nerves" EXACT [] synonym: "Underdeveloped optic nerves" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95499004 xref: UMLS:C0338502 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0000610 name: Abnormal choroid morphology alt_id: HP:0001122 def: "Any structural abnormality of the choroid." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the choroid" EXACT [] synonym: "Choroid disease" RELATED [] xref: UMLS:C0008521 xref: UMLS:C4025836 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000611 name: obsolete Choroid coloboma is_obsolete: true replaced_by: HP:0000567 [Term] id: HP:0000612 name: Iris coloboma alt_id: HP:0007744 alt_id: HP:0007748 def: "A coloboma of the iris." [https://orcid.org/0000-0002-0736-9199, PMID:19369671] subset: hposlim_core synonym: "Cat eye" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Coloboma of iris" EXACT [] synonym: "Coloboma of the iris" EXACT [] synonym: "Keyhole iris" EXACT [] xref: UMLS:C0240063 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000613 name: Photophobia def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [] comment: Note that the term photodysphoria is used to describe extreme photophobia. subset: hposlim_core synonym: "Extreme sensitivity of the eyes to light" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Light hypersensitivity" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Photodysphoria" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:246622003 xref: SNOMEDCT_US:409668002 xref: UMLS:C0085636 xref: UMLS:C4020887 is_a: HP:0000504 ! Abnormality of vision is_a: HP:5200058 ! Sensory hypersensitivity property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000614 name: Abnormal nasolacrimal system morphology def: "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [HPO_CONTRIBUTOR:DDD_ncarter] comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. subset: hposlim_core synonym: "Abnormality of the nasolacrimal system" EXACT [] xref: UMLS:C4025835 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000615 name: Abnormal pupil morphology alt_id: HP:0008018 alt_id: HP:0030960 def: "An abnormality of the pupil." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal pupillary morphology" EXACT [] synonym: "Abnormality of the pupil" EXACT layperson [] synonym: "Pupillary abnormalities" EXACT layperson [] synonym: "Pupillary abnormality" EXACT layperson [] xref: SNOMEDCT_US:274093008 xref: UMLS:C0154936 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0000616 name: Miosis def: "Abnormal (non-physiological) constriction of the pupil." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Constricted pupils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pupillary constriction" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:63251006 xref: UMLS:C0026205 is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0000617 name: Abnormality of ocular smooth pursuit alt_id: HP:0007671 alt_id: HP:0008006 def: "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements." [https://orcid.org/0000-0002-0736-9199] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. synonym: "Abnormal smooth pursuits" EXACT [] synonym: "Disrupted ocular pursuit movements" EXACT [] synonym: "Impaired smooth pursuit ocular movements" EXACT [] synonym: "Irregular visual pursuit movements" EXACT [] xref: UMLS:C1836393 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000618 name: Blindness alt_id: HP:0007839 def: "Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation." [https://orcid.org/0000-0001-8727-6592, PMID:28779882] comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. subset: hposlim_core synonym: "Blindness" EXACT layperson [] synonym: "Legal blindness" RELATED layperson [] synonym: "Total vision loss" EXACT [] xref: Fyler:4866 xref: SNOMEDCT_US:65956007 xref: UMLS:C0271215 xref: UMLS:C0456909 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0000619 name: Impaired convergence def: "Reduced ability to turn the eyes inward in order to focus on a nearby object." [https://orcid.org/0000-0002-0736-9199] comment: Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target. synonym: "Convergence insufficiency" EXACT [] xref: SNOMEDCT_US:194131002 xref: UMLS:C0271379 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000620 name: Dacryocystitis def: "Inflammation of the nasolacrimal sac." [https://orcid.org/0000-0002-0736-9199] comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis. synonym: "Dacrocystitis" EXACT [] synonym: "Infection of the lacrimal sac" EXACT [https://en.wikipedia.org/wiki/dacryocystitis, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:85777005 xref: UMLS:C0010930 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology [Term] id: HP:0000621 name: Entropion def: "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital." [https://orcid.org/0000-0003-0986-4123, PMID:19125427] comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. subset: hposlim_core synonym: "Eyelid folded in" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid turned in" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Inverted eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:33168009 xref: UMLS:C0014390 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000622 name: Blurred vision alt_id: HP:0007723 def: "Lack of sharpness of vision resulting in the inability to see fine detail." [https://orcid.org/0000-0002-0736-9199] comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. subset: hposlim_core synonym: "Blurred vision" EXACT layperson [] xref: SNOMEDCT_US:111516008 xref: SNOMEDCT_US:246636008 xref: UMLS:C0344232 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000623 name: Supranuclear ophthalmoplegia def: "A vertical gaze palsy with inability to direct the gaze of the eyes downwards." [https://orcid.org/0000-0002-0736-9199, PMID:20629667] subset: hposlim_core xref: UMLS:C1408507 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000625 name: Eyelid coloboma def: "A short discontinuity of the margin of the lower or upper eyelid." [PMID:19125427] comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. subset: hposlim_core synonym: "Cleft eyelid" EXACT layperson [] synonym: "Full thickness defect of the eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Notched eyelid" EXACT layperson [] xref: SNOMEDCT_US:95202004 xref: UMLS:C0521573 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid [Term] id: HP:0000627 name: Posterior embryotoxon alt_id: HP:0100740 def: "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe." [https://orcid.org/0000-0002-0736-9199] comment: Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant. subset: hposlim_core synonym: "Embryotoxon" EXACT [] xref: SNOMEDCT_US:253228006 xref: SNOMEDCT_US:392437005 xref: UMLS:C0344531 xref: UMLS:C0546967 is_a: HP:0008048 ! Abnormal line of Schwalbe morphology [Term] id: HP:0000629 name: Periorbital fullness def: "Increase in periorbital soft tissue." [https://orcid.org/0009-0006-4530-3154] synonym: "Fullness around the eyes" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Periorbital puffiness" EXACT [] synonym: "Periorbital swelling" EXACT [] synonym: "Puffiness around eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Puffy eyes" EXACT [] synonym: "Swelling around the eyes" EXACT [] xref: UMLS:C1858036 is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000630 name: Abnormal retinal artery morphology synonym: "Abnormality of retinal arteries" EXACT layperson [] synonym: "Retinal arterial abnormality" EXACT layperson [] xref: UMLS:C4021802 is_a: HP:0008046 ! Abnormal retinal vascular morphology is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:3000036 ! Abnormal head blood vessel morphology [Term] id: HP:0000631 name: Retinal arterial tortuosity def: "The presence of an increased number of twists and turns of the retinal artery." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Retinal artery tortuousity" EXACT [] xref: SNOMEDCT_US:247123003 xref: UMLS:C0423401 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0000632 name: Lacrimation abnormality alt_id: HP:0000521 def: "Abnormality of tear production." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of tear production" EXACT layperson [] xref: UMLS:C4021801 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000633 name: Decreased lacrimation def: "Abnormally decreased lacrimation, that is, reduced tear production." [https://orcid.org/0000-0002-0736-9199, PMID:35925585] comment: As part of the lacrimal apparatus, the lacrimal gland participates in the maintenance of a healthy eye surface by producing the aqueous part of the tear film. Alacrimia and hypolacrimia, which are relatively rare during childhood or young adulthood, have their origin in a number of mechanisms which include agenesia, aplasia, hypoplasia, or incorrect maturation of the gland. synonym: "Decreased tear secretion" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypolacrimia" EXACT [] xref: UMLS:C0235857 is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000634 name: Impaired ocular abduction def: "An impaired ability of the eye to move in the outward direction (towards the side of the head)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1846462 is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000635 name: Blue irides def: "A markedly blue coloration of the iris." [https://orcid.org/0000-0002-0736-9199] synonym: "Blue eyes" EXACT layperson [] xref: SNOMEDCT_US:301952009 xref: UMLS:C0578626 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0000636 name: Upper eyelid coloboma def: "A short discontinuity of the margin of the upper eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Coloboma of the upper eyelid" EXACT [] synonym: "Full thickness defect of the upper eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Notched upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper eyelid colobomas" EXACT [] xref: UMLS:C1863872 is_a: HP:0000625 ! Eyelid coloboma [Term] id: HP:0000637 name: Long palpebral fissure alt_id: HP:0007904 def: "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [PMID:19125427] subset: hposlim_core synonym: "Broad opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Long opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Wide opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide palpebral fissure" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Wide palpebral fissures" EXACT [] xref: UMLS:C1849340 is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000639 name: Nystagmus def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Involuntary, rapid, rhythmic eye movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:563001 xref: UMLS:C0028738 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0000640 name: Gaze-evoked nystagmus def: "Nystagmus made apparent by looking to the right or to the left." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:29356006 xref: UMLS:C0271390 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000641 name: Dysmetric saccades def: "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [https://orcid.org/0000-0002-0736-9199, PMID:572501] subset: hposlim_core synonym: "Dysmetric eye movements" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Dysmetric eye saccades" EXACT [] synonym: "Uncoordinated eye movement" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1836392 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000642 name: Red-green dyschromatopsia alt_id: HP:0007960 def: "Difficulty with discriminating red and green hues." [https://orcid.org/0000-0001-8727-6592] synonym: "Dyschromatopsia with red-green confusion" EXACT [] synonym: "Red green color blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Red green colour blindness" EXACT uk_spelling [] synonym: "Red/green color vision defect" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Red/green colour vision defect" RELATED uk_spelling [] xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 xref: UMLS:C0155016 xref: UMLS:C1970168 is_a: HP:0007641 ! Dyschromatopsia [Term] id: HP:0000643 name: Blepharospasm alt_id: HP:0007907 def: "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [https://orcid.org/0000-0002-0736-9199] synonym: "Eyelid spasm" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid twitching" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Involuntary closure of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spontaneous closure of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:59026006 xref: UMLS:C0005747 is_a: HP:0012179 ! Craniofacial dystonia is_a: HP:0031879 ! Abnormal eyelid physiology [Term] id: HP:0000646 name: Amblyopia def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." [https://orcid.org/0000-0002-0736-9199] comment: Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. subset: hposlim_core synonym: "Lazy eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Wandering eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Wandering eyes" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:387742006 xref: UMLS:C0002418 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0000647 name: Sclerocornea def: "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hardening of skin and connective tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1853235 is_a: HP:0007957 ! Corneal opacity [Term] id: HP:0000648 name: Optic atrophy alt_id: HP:0007751 alt_id: HP:0007855 def: "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [https://orcid.org/0000-0002-0736-9199] comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischemic optic neuropathy or a compressive lesion. subset: hposlim_core synonym: "Optic nerve atrophy" EXACT [] synonym: "Optic-nerve degeneration" EXACT [] xref: SNOMEDCT_US:76976005 xref: UMLS:C0029124 is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0000649 name: Abnormality of visual evoked potentials def: "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." [https://orcid.org/0000-0002-0736-9199, PMID:19826847] comment: The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. subset: hposlim_core synonym: "Abnormal vision evoked potentials" EXACT [] synonym: "Abnormal visual evoked potential" EXACT [] synonym: "Abnormal visual evoked responses" EXACT [] synonym: "Abnormal visual-evoked potentials" EXACT [] synonym: "VEP abnormalities" EXACT [] xref: SNOMEDCT_US:102968003 xref: UMLS:C0522214 is_a: HP:0030453 ! Abnormal visual electrophysiology is_a: HP:0430106 ! Abnormal brain-evoked potentials [Term] id: HP:0000650 name: Abnormal amplitude of pattern reversal visual evoked potentials xref: UMLS:C4025834 is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials [Term] id: HP:0000651 name: Diplopia def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Double vision" EXACT layperson [] xref: SNOMEDCT_US:24982008 xref: UMLS:C0012569 is_a: HP:0011514 ! Abnormality of binocular vision [Term] id: HP:0000652 name: Lower eyelid coloboma alt_id: HP:0007909 def: "A short discontinuity of the margin of the lower eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Coloboma of lower eyelid" EXACT [] synonym: "Full thickness defect of the lower eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lower lid coloboma" EXACT [] synonym: "Notched lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837826 is_a: HP:0000625 ! Eyelid coloboma [Term] id: HP:0000653 name: Sparse eyelashes alt_id: HP:0002284 alt_id: HP:0004519 alt_id: HP:0004531 alt_id: HP:0004555 alt_id: HP:0004777 alt_id: HP:0007853 def: "Decreased density/number of eyelashes." [PMID:19125427] subset: hposlim_core synonym: "Hypotrichosis of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Partial absence of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Scant eyelashes" EXACT layperson [] synonym: "Scanty eyelashes" EXACT layperson [] synonym: "Sparse eyelashes" EXACT layperson [] synonym: "Thin eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1843300 is_a: HP:0008070 ! Sparse hair is_a: HP:0200102 ! Sparse or absent eyelashes [Term] id: HP:0000654 name: Decreased light- and dark-adapted electroretinogram amplitude alt_id: HP:0007636 alt_id: HP:0007689 alt_id: HP:0007845 def: "Decreased amplitude of eletrical response upon electroretinography." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT [] synonym: "Decreased electroretinogram" EXACT [] synonym: "Decreased electroretinogram amplitude" EXACT [] synonym: "Decreased electroretinogram response" EXACT [] synonym: "Decreased ERG amplitude" EXACT [] synonym: "Flattened or absent electroretinogram" EXACT [] synonym: "Reduced electroretinogram" EXACT [] synonym: "Reduced ERG" EXACT [] synonym: "Reduced or abolished electroretinogram" EXACT [] xref: UMLS:C1839025 is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram [Term] id: HP:0000655 name: obsolete Vitreoretinal degeneration is_obsolete: true replaced_by: HP:0007773 [Term] id: HP:0000656 name: Ectropion def: "An outward turning (eversion) or rotation of the eyelid margin." [PMID:19125427] comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. subset: hposlim_core synonym: "Everted eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid folded out" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid turned out" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:127559009 xref: SNOMEDCT_US:62909004 xref: UMLS:C0013592 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000657 name: Oculomotor apraxia alt_id: HP:0000628 alt_id: HP:0007764 def: "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex." [https://orcid.org/0000-0002-0736-9199, PMID:20615230] comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. subset: hposlim_core synonym: "Defective or absent horizontal voluntary eye movements" RELATED [] synonym: "Ocular motor apraxia" EXACT [] xref: SNOMEDCT_US:193662007 xref: UMLS:C3489733 xref: UMLS:C4020886 is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0002186 ! Apraxia [Term] id: HP:0000658 name: Eyelid apraxia synonym: "Difficulty opening the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:423142006 xref: UMLS:C1142448 is_a: HP:0002186 ! Apraxia is_a: HP:0031879 ! Abnormal eyelid physiology [Term] id: HP:0000659 name: Peters anomaly def: "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:204153003 xref: UMLS:C0344559 is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0000660 name: Lipemia retinalis def: "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." [PMID:10379021, PMID:16120862] comment: Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). xref: SNOMEDCT_US:95692001 xref: UMLS:C0339477 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0000661 name: Palpebral fissure narrowing on adduction xref: UMLS:C1846465 is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0000662 name: Nyctalopia alt_id: HP:0007653 alt_id: HP:0007725 alt_id: HP:0007865 alt_id: HP:0007895 def: "Inability to see well at night or in poor light." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Difficulties with night vision" RELATED layperson [] synonym: "Night blindness" EXACT layperson [] synonym: "Night-blindness" EXACT layperson [] synonym: "Poor night vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:65194006 xref: UMLS:C0028077 xref: UMLS:C4020885 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000664 name: Synophrys alt_id: HP:0002210 def: "Meeting of the medial eyebrows in the midline." [PMID:19125427] subset: hposlim_core synonym: "Monobrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Synophris" EXACT [] synonym: "Unibrow" EXACT layperson [] xref: SNOMEDCT_US:253207002 xref: UMLS:C0431447 is_a: HP:0000534 ! Abnormal eyebrow morphology is_a: HP:0002219 ! Facial hypertrichosis [Term] id: HP:0000666 name: Horizontal nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Nystagmus, horizontal" EXACT [] xref: SNOMEDCT_US:81756001 xref: UMLS:C0271385 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000667 name: Phthisis bulbi def: "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [https://orcid.org/0000-0002-0736-9199] comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye. subset: hposlim_core xref: SNOMEDCT_US:4229009 xref: UMLS:C0271007 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000668 name: Hypodontia def: "The absence of five or less teeth from the normal series by a failure to develop." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. subset: hposlim_core synonym: "Failure of development of between one and six teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing between one and six teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:64969001 xref: UMLS:C0020608 is_a: HP:0009804 ! Tooth agenesis [Term] id: HP:0000670 name: Carious teeth alt_id: HP:0006295 alt_id: HP:0006306 def: "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [https://orcid.org/0000-0002-0736-9199] comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. subset: hposlim_core synonym: "Caries" EXACT [] synonym: "Cariosity of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dental caries" EXACT [] synonym: "Dental cavities" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dental decay" RELATED layperson [] synonym: "Early dental caries" EXACT [] synonym: "Frequent caries" EXACT [] synonym: "Rotting teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth cavities" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth decay" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:80967001 xref: UMLS:C0011334 xref: UMLS:C4280623 is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000674 name: Anodontia alt_id: HP:0006484 def: "The absence of all teeth from the normal series by a failure to develop." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. synonym: "Anodontia vera" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Complete agenesis of all teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Complete anodontia" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Complete dental agenesis" EXACT [] synonym: "Failure of development of all teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing all teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Total absence of all teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Total anodontia" NARROW [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:16958000 xref: SNOMEDCT_US:26624006 xref: UMLS:C0399352 xref: UMLS:C4280622 is_a: HP:0009804 ! Tooth agenesis [Term] id: HP:0000675 name: Macrodontia of permanent maxillary central incisor def: "Increased size of the maxillary central secondary incisor tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Hyperplasia of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of permanent upper central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of permanent maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of permanent upper central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Large permanent upper central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Long maxillary central incisors" EXACT [] synonym: "Prominent upper incisors" EXACT [] synonym: "Prominent, protruding upper incisors" EXACT [] xref: UMLS:C1835095 xref: UMLS:C4280263 xref: UMLS:C4280620 xref: UMLS:C4280621 is_a: HP:0011081 ! Incisor macrodontia [Term] id: HP:0000676 name: Abnormality of the incisor alt_id: HP:0006340 def: "An abnormality of the Incisor tooth." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025833 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000677 name: Oligodontia alt_id: HP:0000702 def: "The absence of six or more teeth from the normal series by a failure to develop." [PMID:19125428, PMID:31468724] comment: The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. synonym: "Failure of development of more than six teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing more than six teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Number of teeth decreased by more than six" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Partial anodontia" EXACT [] xref: UMLS:C4082304 xref: UMLS:C4280619 is_a: HP:0009804 ! Tooth agenesis [Term] id: HP:0000678 name: Dental crowding def: "Changes in alignment of teeth in the dental arch" [PMID:19125428, PMID:31468724] comment: Overlapping teeth within an alveolar ridge. subset: hposlim_core synonym: "Crowded teeth" EXACT layperson [] synonym: "Dental crowding" EXACT layperson [] synonym: "Dental overcrowding" EXACT layperson [] synonym: "Inadequate arch length for tooth size" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Overcrowding of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth mass arch size discrepancy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth size discrepancy" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:12351004 xref: SNOMEDCT_US:699222000 xref: UMLS:C0040433 xref: UMLS:C1317785 xref: UMLS:C4280617 xref: UMLS:C4280618 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0000679 name: Taurodontia def: "Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged. subset: hposlim_core synonym: "Large elongated pulp chamber" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Taurodont" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Taurodontism" EXACT [] xref: SNOMEDCT_US:51744007 xref: UMLS:C0266039 xref: UMLS:C4280616 is_a: HP:0006479 ! Abnormal dental pulp morphology is_a: HP:0006486 ! Abnormal dental root morphology is_a: HP:0011071 ! Abnormal permanent molar morphology [Term] id: HP:0000680 name: Delayed eruption of primary teeth def: "Delayed tooth eruption affecting the primary dentition." [https://orcid.org/0000-0002-9338-3017] synonym: "Delayed eruption of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed eruption of deciduous teeth" EXACT [] synonym: "Delayed eruption of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed primary teeth eruption" EXACT [] synonym: "Late eruption of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late eruption of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late eruption of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849538 is_a: HP:0000684 ! Delayed eruption of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0000682 name: Abnormal dental enamel morphology alt_id: HP:0006322 def: "An abnormality of the dental enamel." [https://orcid.org/0000-0002-0736-9199] comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. subset: hposlim_core synonym: "Abnormal tooth enamel" EXACT layperson [] synonym: "Abnormality of dental enamel" EXACT [] synonym: "Defective tooth enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dystrophic tooth enamel" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Enamel abnormalities" EXACT layperson [] synonym: "Enamel abnormality" EXACT layperson [] synonym: "Malformation of dental enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of tooth enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021800 xref: UMLS:C4280262 xref: UMLS:C4280615 is_a: HP:0011061 ! Abnormality of dental structure is_a: HP:3000050 ! Abnormal odontoid tissue morphology [Term] id: HP:0000683 name: Grayish enamel def: "A gray discoloration of the dental enamel." [https://orcid.org/0000-0002-9338-3017] comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. synonym: "Gray colored tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gray tooth shade" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Grayish enamel" EXACT layperson [] synonym: "Grey coloured tooth enamel" EXACT uk_spelling [] synonym: "Grey tooth shade" EXACT uk_spelling [] synonym: "Greyish enamel" EXACT layperson [] xref: UMLS:C1854783 is_a: HP:0000682 ! Abnormal dental enamel morphology is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0000684 name: Delayed eruption of teeth alt_id: HP:0000686 alt_id: HP:0006294 alt_id: HP:0006314 alt_id: HP:0006328 def: "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [https://orcid.org/0000-0002-9338-3017, PMID:19125428, PMID:31468724] comment: This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations. subset: hposlim_core synonym: "Delayed dental development" EXACT [] synonym: "Delayed dental eruption" EXACT [] synonym: "Delayed eruption" EXACT layperson [] synonym: "Delayed eruption of teeth" EXACT layperson [] synonym: "Delayed teeth eruption" EXACT layperson [] synonym: "Delayed tooth eruption" EXACT layperson [] synonym: "Eruption, delayed" EXACT layperson [] synonym: "Late eruption of teeth" EXACT layperson [] synonym: "Late tooth eruption" EXACT layperson [] xref: SNOMEDCT_US:5639000 xref: UMLS:C0239174 is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000685 name: Hypoplasia of teeth alt_id: HP:0000688 alt_id: HP:0006281 alt_id: HP:0006307 def: "Developmental hypoplasia of teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Decreased size of teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic teeth" EXACT [] synonym: "Underdevelopment of teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0235357 xref: UMLS:C4280611 is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000687 name: Widely spaced teeth def: "Increased spaces (diastemata) between most of the teeth in the same dental arch." [PMID:19125428] comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. subset: hposlim_core synonym: "Generalised dental spacing" EXACT uk_spelling [] synonym: "Generalised spacing of teeth" EXACT uk_spelling [] synonym: "Generalized dental spacing" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Generalized spacing of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple diastemata" EXACT [] synonym: "Wide-spaced teeth" EXACT layperson [] synonym: "Widely spaced teeth" EXACT layperson [] synonym: "Widely-spaced teeth" EXACT layperson [] xref: UMLS:C1844813 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0000689 name: Dental malocclusion def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [PMID:31468724] synonym: "Angle class 2 malocclusion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Angle class 3 malocclusion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Bad bite" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral crossbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral crossbite malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Incorrect relation between upper and lower dental arches" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malalignment of upper and lower dental arches" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malocclusion" EXACT [] synonym: "Malocclusion of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Misalignment of upper and lower dental arches" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Occlusion anomaly" EXACT [] xref: SNOMEDCT_US:47944004 xref: SNOMEDCT_US:707598004 xref: UMLS:C0024636 xref: UMLS:C4280613 xref: UMLS:C4280614 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0000690 name: Agenesis of maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of upper lateral incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absent upper lateral incisors" EXACT [] synonym: "Failure of development of maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper lateral incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849950 xref: UMLS:C4083046 is_a: HP:0200153 ! Agenesis of lateral incisor is_a: HP:0200160 ! Agenesis of maxillary incisor [Term] id: HP:0000691 name: Microdontia def: "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [https://orcid.org/0000-0002-9338-3017, PMID:19125428] comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. subset: hposlim_core synonym: "Decreased size of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic tooth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Small teeth" EXACT [] synonym: "Small tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth hypoplasia" EXACT [] synonym: "Tooth hypotrophy" EXACT [] synonym: "Underdeveloped tooth" EXACT [] xref: SNOMEDCT_US:32337007 xref: UMLS:C0240340 xref: UMLS:C4280611 xref: UMLS:C4280612 is_a: HP:0006482 ! Abnormal dental morphology [Term] id: HP:0000692 name: Tooth malposition alt_id: HP:0000693 alt_id: HP:0001569 alt_id: HP:0006303 alt_id: HP:0006478 def: "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormal dental position" EXACT layperson [] synonym: "Abnormal teeth spacing" EXACT layperson [] synonym: "Abnormality of alignment of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of position of teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of teeth spacing" EXACT layperson [] synonym: "Crooked teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malaligned teeth" EXACT layperson [] synonym: "Malposition of teeth" EXACT layperson [] synonym: "Malpositioned teeth" EXACT layperson [] synonym: "Misalignment of teeth" EXACT layperson [] synonym: "Teeth, malposition" EXACT [] xref: UMLS:C1852504 xref: UMLS:C4280610 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000694 name: Odontodysplasia def: "The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin." [https://orcid.org/0000-0002-9338-3017] synonym: "Ghost teeth" EXACT [] synonym: "Shell teeth" EXACT [] synonym: "Teeth with dentinal dysplasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Teeth with thin dentin and large pulp chambers" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Teeth with type iii dentinogenesis imperfecta" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:67504007 xref: UMLS:C2981132 is_a: HP:0000703 ! Dentinogenesis imperfecta [Term] id: HP:0000695 name: Natal tooth def: "A tooth present at birth or erupting within the first month of life." [PMID:19125428, PMID:31468724] comment: A tooth erupting between the second and fourth month is called a neonatal tooth. A natal tooth is uncommon, the prevalence at birth is 1/2000 to 1/3500 birth. In 85%, the erupted tooth is the deciduous lower incisors, and in 5%, it concerns upper incisors or molars, and in 10%, it involves supernumerary teeth. Natal teeth are usually mobile and lack root formation. subset: hposlim_core synonym: "Born with teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Natal teeth" EXACT [] synonym: "Neonatal teeth" EXACT [] synonym: "Teeth present at birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:21995002 xref: SNOMEDCT_US:58748004 xref: UMLS:C0027443 is_a: HP:0006288 ! Advanced eruption of teeth [Term] id: HP:0000696 name: Delayed eruption of permanent teeth def: "Delayed tooth eruption affecting the secondary dentition." [https://orcid.org/0000-0002-9338-3017] synonym: "Delayed eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed eruption of permanent teeth" EXACT layperson [] synonym: "Delayed eruption of secondary dentition" EXACT [] synonym: "Delayed eruption of secondary teeth" EXACT [] synonym: "Delayed permanent dentition" EXACT [] xref: UMLS:C1849540 is_a: HP:0000684 ! Delayed eruption of teeth [Term] id: HP:0000698 name: Conical tooth def: "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. subset: hposlim_core synonym: "Cone shaped tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Conical teeth" RELATED [] synonym: "Conoid tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped teeth" EXACT [] synonym: "Peg shaped tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Peg tooth" EXACT [] synonym: "Peg-shaped teeth" EXACT [] synonym: "Pointed tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Shark tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:29553002 xref: UMLS:C0266037 xref: UMLS:C4012359 is_a: HP:0006482 ! Abnormal dental morphology [Term] id: HP:0000699 name: Diastema def: "Increased space between two adjacent teeth in the same dental arch." [PMID:19125428] comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. subset: hposlim_core synonym: "Dental diastasis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dental diastema" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Diastasis of the teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Diastema of the teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Gap between teeth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Gaps between teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:35591002 xref: UMLS:C0011998 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0000700 name: Periapical bone loss def: "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [https://orcid.org/0000-0002-9338-3017] comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. synonym: "Bone loss around tooth root" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dark spot around tooth root on x-ray" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Periapical cyst" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Periapical granuloma" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Periapical lesion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Periapical radiolucencies" RELATED [] synonym: "Periapical radiolucency" RELATED [] xref: SNOMEDCT_US:81407003 xref: SNOMEDCT_US:89988002 xref: UMLS:C0031029 xref: UMLS:C0034543 xref: UMLS:C1852169 xref: UMLS:C4280609 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000703 name: Dentinogenesis imperfecta def: "Developmental dysplasia of dentin." [https://orcid.org/0000-0002-9338-3017] comment: This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. subset: hposlim_core xref: SNOMEDCT_US:196286005 xref: UMLS:C0011436 is_a: HP:0010299 ! Abnormal dentin morphology is_a: HP:3000050 ! Abnormal odontoid tissue morphology [Term] id: HP:0000704 name: Periodontitis alt_id: HP:0000165 alt_id: HP:0006301 def: "Inflammation of the periodontium." [https://orcid.org/0000-0002-9338-3017] subset: hposlim_core synonym: "Gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Periodontal disease" BROAD [] synonym: "Pyorrhea" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:18718003 xref: SNOMEDCT_US:2556008 xref: SNOMEDCT_US:41565005 xref: UMLS:C0017563 xref: UMLS:C0031090 xref: UMLS:C0031099 is_a: HP:0000164 ! Abnormality of the dentition is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000705 name: Amelogenesis imperfecta alt_id: HP:0006284 alt_id: HP:0006310 alt_id: HP:0006325 alt_id: HP:0006327 alt_id: HP:0006331 def: "A developmental dysplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017, PMID:18499550] comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. subset: hposlim_core xref: SNOMEDCT_US:78494001 xref: UMLS:C0002452 is_a: HP:0000682 ! Abnormal dental enamel morphology [Term] id: HP:0000706 name: Eruption failure def: "A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations. synonym: "Failure of eruption of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pseudo-anodontia" EXACT [] synonym: "Pseudoanodontia" EXACT [] synonym: "Unerupted dentition" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Unerupted tooth" EXACT layperson [] xref: SNOMEDCT_US:109542004 xref: UMLS:C1290587 is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000707 name: Abnormality of the nervous system alt_id: HP:0001333 alt_id: HP:0006987 def: "An abnormality of the nervous system." [https://orcid.org/0000-0002-0736-9199] comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. synonym: "Abnormality of the nervous system" EXACT layperson [] synonym: "Brain and/or spinal cord issue" BROAD layperson [] synonym: "Neurologic abnormalities" EXACT layperson [] synonym: "Neurological abnormality" EXACT layperson [] xref: SNOMEDCT_US:88425004 xref: UMLS:C0497552 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000708 name: Atypical behavior alt_id: HP:0000715 alt_id: HP:0002368 alt_id: HP:0002456 def: "Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will." [] comment: Atypical behaviors should include or directly affect observable actions. While behavioral disorders often encompass abnormal thoughts, feelings, perceptions, or other cognitions, these alone would not be considered atypical behavioral features. synonym: "Behavioral abnormality" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral changes" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral disorders" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral disturbances" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral problems" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral symptoms" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioral/psychiatric abnormalities" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural abnormality" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural changes" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural disorders" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural disturbances" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural problems" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural symptoms" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural/Psychiatric abnormality" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Behavioural/psychiatric abnormality" EXACT [] synonym: "Psychiatric disorders" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Psychiatric disturbances" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:25786006 xref: SNOMEDCT_US:277843001 xref: UMLS:C0004941 xref: UMLS:C0233514 is_a: HP:0011446 ! Abnormality of mental function property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000709 name: Psychosis def: "A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis." [] synonym: "Psychosis" EXACT layperson [] xref: SNOMEDCT_US:69322001 xref: UMLS:C0033975 is_a: HP:5200430 ! Abnormal psychotic pattern property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0000710 name: Hyperorality def: "Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects." [PMID:29112858] synonym: "Hyperoralia" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Hyperorality" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Mouthing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: UMLS:C1838320 is_a: HP:5200065 ! Tactile sensory seeking property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000711 name: Restlessness def: "A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior." [] synonym: "Fidgetiness" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Restiveness" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:162221009 xref: UMLS:C3887611 is_a: HP:5200263 ! Abnormally increased volition property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000712 name: Emotional lability alt_id: HP:0000720 alt_id: HP:0001575 alt_id: HP:0008766 def: "Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances." [] synonym: "Emotional instability" EXACT layperson [] synonym: "Mood alterations" EXACT [] synonym: "Mood changes" EXACT layperson [] synonym: "Mood lability" EXACT [] synonym: "Mood swings" EXACT layperson [] xref: SNOMEDCT_US:18963009 xref: UMLS:C0085633 is_a: HP:0031466 ! Impairment in personality functioning is_a: HP:0100851 ! Abnormal emotional state property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000713 name: Agitation def: "A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others." [] synonym: "Psychomotor agitation" EXACT [] xref: SNOMEDCT_US:24199005 xref: UMLS:C0085631 is_a: HP:5200263 ! Abnormally increased volition property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000716 name: Depression def: "Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior." [] synonym: "Depression" EXACT layperson [] synonym: "Depressive disorder" RELATED [] synonym: "Depressive episode" EXACT [] synonym: "Depressivity" EXACT [] xref: SNOMEDCT_US:21061000119107 xref: SNOMEDCT_US:35489007 xref: SNOMEDCT_US:78667006 xref: UMLS:C0011581 is_a: HP:0000745 ! Abnormal diminished volition is_a: HP:0100851 ! Abnormal emotional state property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000717 name: Autism def: "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [https://orcid.org/0000-0002-6410-0882] comment: The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. synonym: "Autism" EXACT layperson [] xref: SNOMEDCT_US:408856003 xref: SNOMEDCT_US:408857007 xref: SNOMEDCT_US:43614003 xref: UMLS:C0004352 is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000718 name: Aggressive behavior alt_id: HP:0006919 def: "Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires)." [] synonym: "Aggression" EXACT layperson [] synonym: "Aggressive behavior" EXACT layperson [] synonym: "Aggressiveness" EXACT layperson [] synonym: "physical aggression" RELATED layperson [] xref: SNOMEDCT_US:248004009 xref: SNOMEDCT_US:61372001 xref: UMLS:C0001807 xref: UMLS:C0424323 xref: UMLS:C1457883 is_a: HP:0000734 ! Disinhibition property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000719 name: Inappropriate behavior def: "An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature." [] synonym: "Inappropriate behavior" EXACT layperson [] synonym: "Inappropriate behaviour" EXACT uk_spelling [] xref: SNOMEDCT_US:112082005 xref: UMLS:C0233522 is_a: HP:5200029 ! Social disinhibition property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000720 name: obsolete Mood swings is_obsolete: true replaced_by: HP:0000712 [Term] id: HP:0000721 name: Lack of spontaneous play synonym: "Lack of spontaneous play" EXACT layperson [] xref: UMLS:C1837650 is_a: HP:5200104 ! Abnormal play [Term] id: HP:0000722 name: Compulsive behaviors def: "Behavior that consists of repetitive acts, characterized by the feeling that one \"has to\" perform them, while being aware that these acts are not in line with one's overall goal." [] synonym: "Obsessive compulsive behavior" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Obsessive compulsive behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Obsessive compulsive disorder" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Obsessive-compulsive behavior" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Obsessive-compulsive behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Obsessive-compulsive disorder" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "OCD" EXACT abbreviation [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:12479006 xref: SNOMEDCT_US:191736004 xref: UMLS:C0028768 xref: UMLS:C0600104 is_a: HP:5200241 ! Recurrent maladaptive behavior property_value: terms:contributor https://orcid.org/0000-0001-6624-2975 property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-2984-1124 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0002-4691-7362 property_value: terms:contributor https://orcid.org/0000-0002-6581-7754 property_value: terms:contributor https://orcid.org/0000-0002-7674-1767 property_value: terms:contributor https://orcid.org/0000-0003-2598-6622 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:contributor https://orcid.org/0000-0003-4014-4490 [Term] id: HP:0000723 name: Restrictive behavior def: "Behavior characterized by an abnormal limitation to a few interests and activities." [] synonym: "Restricted behavior" EXACT [] synonym: "Restricted behaviour" EXACT uk_spelling [] synonym: "Restrictive behavior" EXACT [] synonym: "Restrictive behavior, interests, and activities" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2675334 xref: UMLS:C4021799 is_a: HP:0031432 ! Restricted or repetitive behaviors or interests [Term] id: HP:0000725 name: Psychotic episodes def: "Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder." [] synonym: "Psychotic episodes" EXACT layperson [] xref: UMLS:C0338614 is_a: HP:5200430 ! Abnormal psychotic pattern property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0000726 name: Dementia alt_id: HP:0002274 alt_id: HP:0007122 alt_id: HP:0007150 alt_id: HP:0007283 def: "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [https://orcid.org/0000-0002-0736-9199] synonym: "Dementia" EXACT layperson [] synonym: "Dementia, progressive" EXACT layperson [] synonym: "Progressive dementia" EXACT layperson [] xref: SNOMEDCT_US:52448006 xref: UMLS:C0497327 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0000727 name: Frontal lobe dementia xref: SNOMEDCT_US:278857002 xref: UMLS:C0338455 is_a: HP:0000726 ! Dementia [Term] id: HP:0000728 name: Impaired ability to form peer relationships def: "Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, understand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group." [] xref: UMLS:C1837649 is_a: HP:0012760 ! Reduced social responsiveness [Term] id: HP:0000729 name: Autistic behavior def: "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [https://orcid.org/0000-0002-0736-9199, PMID:28879490] comment: This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. If possible, we recommend annotating using more specific terms. synonym: "ASD" EXACT abbreviation [] synonym: "Autism spectrum disorder" RELATED layperson [] synonym: "Autism spectrum disorders" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Autistic behaviors" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Autistic behaviour" EXACT uk_spelling [] synonym: "Autistic behaviours" RELATED uk_spelling [] synonym: "Pervasive developmental disorder" EXACT [] xref: UMLS:C0856975 xref: UMLS:C1510586 is_a: HP:0025783 ! Diagnostic behavioral phenotype [Term] id: HP:0000732 name: Inflexible adherence to routines def: "A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered." [] xref: UMLS:C1837653 is_a: HP:5200130 ! Insistence on sameness property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000733 name: Motor stereotypy alt_id: HP:0008758 alt_id: HP:0008759 def: "Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose." [] synonym: "Abnormal repetitive mannerism" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Repetitive behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "repetitive behaviour" EXACT uk_spelling [] synonym: "Repetitive behaviour Stereotypic behaviour" EXACT uk_spelling [] synonym: "Repetitive movements" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0001-9114-8737, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Repetitive, stereotypic behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypic behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypic behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behaviour" EXACT uk_spelling [] synonym: "Stereotypical motor behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stimming" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:5507002 xref: SNOMEDCT_US:84328007 xref: UMLS:C0038271 xref: UMLS:C0038273 is_a: HP:0031432 ! Restricted or repetitive behaviors or interests property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000734 name: Disinhibition def: "Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment." [] comment: Disinhibition affects motor, instinctual, emotional, cognitive, and perceptual aspects, exhibiting signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives. synonym: "Impulse control disorders" EXACT [] synonym: "Lack of self-control" EXACT [] xref: SNOMEDCT_US:247977003 xref: UMLS:C0424296 is_a: HP:5200241 ! Recurrent maladaptive behavior is_a: HP:5200263 ! Abnormally increased volition property_value: terms:contributor https://orcid.org/0000-0001-6624-2975 property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-2984-1124 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0002-4691-7362 property_value: terms:contributor https://orcid.org/0000-0002-6581-7754 property_value: terms:contributor https://orcid.org/0000-0002-7674-1767 property_value: terms:contributor https://orcid.org/0000-0003-2598-6622 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:contributor https://orcid.org/0000-0003-4014-4490 [Term] id: HP:0000735 name: obsolete Impaired social interactions is_obsolete: true replaced_by: HP:0012760 [Term] id: HP:0000736 name: Short attention span def: "Reduced attention span characterized by distractibility and impulsivity." [PMID:26386541] synonym: "Easily distracted" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Easy distractibility" EXACT [] synonym: "High distractibility" EXACT [] synonym: "Poor attention span" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Problem paying attention" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Short attention span" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:247762003 xref: UMLS:C0262630 is_a: HP:5200044 ! Reduced attention regulation property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000737 name: Irritability def: "A proneness to anger, i.e., a tendency to become easily bothered or annoyed." [] synonym: "Irritability" EXACT layperson [] synonym: "Irritable" EXACT layperson [] synonym: "Irritable mood" EXACT [] xref: UMLS:C2700617 is_a: HP:0100851 ! Abnormal emotional state property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000738 name: Hallucinations def: "Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space." [] synonym: "Hallucination" EXACT layperson [] synonym: "Hallucinations" EXACT layperson [] synonym: "Sensory hallucination" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:7011001 xref: UMLS:C0018524 xref: UMLS:C0235153 is_a: HP:5200423 ! Abnormal experience of reality property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0000739 name: Anxiety def: "Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control." [] synonym: "Anxiety" EXACT layperson [] synonym: "Anxiety disease" RELATED layperson [] synonym: "Anxiousness" EXACT [] synonym: "Excessive, persistent worry and fear" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:48694002 xref: UMLS:C0003467 xref: UMLS:C4020884 is_a: HP:5200230 ! Maladaptive fear-related cognitions property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0692-412X property_value: terms:contributor https://orcid.org/0000-0002-7405-0954 property_value: terms:contributor https://orcid.org/0000-0003-0072-5522 property_value: terms:contributor https://orcid.org/0000-0003-0224-647X property_value: terms:contributor https://orcid.org/0000-0003-3398-7270 property_value: terms:contributor https://orcid.org/0009-0004-0873-4444 [Term] id: HP:0000740 name: Episodic paroxysmal anxiety def: "Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable." [] comment: An anxiety attack may manifest with one or more of the following symptoms: (i) difficulty breathing; (ii) palpitations; (iii) a feeling of unreality; (iv) pain or tightness in the chest; (v) trembling, dizziness, or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (paresthesia); (xi) choking or smothering feelings. xref: UMLS:C1854339 is_a: HP:0000739 ! Anxiety property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0692-412X property_value: terms:contributor https://orcid.org/0000-0002-7405-0954 property_value: terms:contributor https://orcid.org/0000-0003-0072-5522 property_value: terms:contributor https://orcid.org/0000-0003-0224-647X property_value: terms:contributor https://orcid.org/0000-0003-3398-7270 property_value: terms:contributor https://orcid.org/0009-0004-0873-4444 [Term] id: HP:0000741 name: Apathy def: "Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy." [] comment: Apathy may co-occur with lethargy. synonym: "Lack of feeling, emotion, interest" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Lack of feeling, emotion, interest, motivation, initiation" EXACT [] synonym: "State of indifference" EXACT [] xref: SNOMEDCT_US:20602000 xref: UMLS:C0085632 is_a: HP:0000745 ! Abnormal diminished volition property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000742 name: Self-mutilation def: "Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die." [PMID:7754789] synonym: "Deliberate self-harm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Self mutilation" EXACT layperson [] synonym: "Self-mutilation" EXACT layperson [] xref: SNOMEDCT_US:130968006 xref: UMLS:C0036601 is_a: HP:0100716 ! Self-injurious behavior property_value: terms:contributor https://orcid.org/0000-0001-6624-2975 property_value: terms:contributor https://orcid.org/0000-0002-2984-1124 property_value: terms:contributor https://orcid.org/0000-0002-4691-7362 property_value: terms:contributor https://orcid.org/0000-0002-6581-7754 property_value: terms:contributor https://orcid.org/0000-0002-7674-1767 property_value: terms:contributor https://orcid.org/0000-0003-2598-6622 property_value: terms:contributor https://orcid.org/0000-0003-4014-4490 [Term] id: HP:0000743 name: Frontal release signs alt_id: HP:0006911 def: "Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes." [https://orcid.org/0009-0006-4530-3154] synonym: "Frontal release reflexes" EXACT [] xref: UMLS:C1833297 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000744 name: Low frustration tolerance def: "The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors." [] synonym: "Intolerance to frustration" EXACT [] xref: UMLS:C0548883 is_a: HP:0031466 ! Impairment in personality functioning is_a: HP:0100851 ! Abnormal emotional state property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000745 name: Abnormal diminished volition def: "A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action." [] synonym: "Diminished energy" EXACT [] synonym: "Diminished motivation" EXACT layperson [] synonym: "Diminished volitional state" EXACT [] synonym: "Lack of initiative" EXACT layperson [] synonym: "Lack of motivation" EXACT layperson [] synonym: "Lacking in initiative" EXACT layperson [] synonym: "Lacks initiative" EXACT layperson [] xref: SNOMEDCT_US:277521002 xref: UMLS:C0456814 is_a: HP:0025780 ! Abnormal volitional state property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000746 name: Delusion def: "A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible." [] synonym: "Delusions" EXACT layperson [] xref: SNOMEDCT_US:2073000 xref: UMLS:C0011253 is_a: HP:0025779 ! Disorder of thought content is_a: HP:5200401 ! Abnormal judgment property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0000748 name: Inappropriate laughter def: "Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying)." [] synonym: "Inappropriate laughter" EXACT layperson [] xref: SNOMEDCT_US:247985007 xref: UMLS:C0424304 is_a: HP:5200029 ! Social disinhibition property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000749 name: Paroxysmal bursts of laughter synonym: "Paroxysmal laughter" EXACT [] xref: UMLS:C1839749 is_a: HP:0000748 ! Inappropriate laughter [Term] id: HP:0000750 name: Delayed speech and language development alt_id: HP:0002116 alt_id: HP:0002117 alt_id: HP:0002336 alt_id: HP:0002399 alt_id: HP:0002498 alt_id: HP:0006936 alt_id: HP:0007004 alt_id: HP:0007127 alt_id: HP:0007170 alt_id: HP:0007172 def: "A degree of language development that is significantly below the norm for a child of a specified age." [https://orcid.org/0000-0002-0736-9199] comment: Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. synonym: "Deficiency of speech development" EXACT layperson [] synonym: "Delayed language development" EXACT layperson [] synonym: "Delayed speech" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Delayed speech acquisition" EXACT layperson [] synonym: "Delayed speech and language development" EXACT layperson [] synonym: "Delayed speech development" EXACT layperson [] synonym: "Impaired speech and language development" EXACT layperson [] synonym: "Impaired speech development" EXACT layperson [] synonym: "Language delay" EXACT layperson [] synonym: "Language delayed" EXACT layperson [] synonym: "Language development deficit" EXACT layperson [] synonym: "Late-onset speech development" EXACT layperson [] synonym: "Poor language development" EXACT layperson [] synonym: "Poor speech acquisition" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Poor speech development" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Speech and language delay" EXACT layperson [] synonym: "Speech and language difficulties" EXACT layperson [] synonym: "Speech delay" EXACT layperson [] synonym: "Speech difficulties" RELATED layperson [] xref: SNOMEDCT_US:162294008 xref: SNOMEDCT_US:229721007 xref: SNOMEDCT_US:29164008 xref: SNOMEDCT_US:62415009 xref: UMLS:C0023012 xref: UMLS:C0233715 xref: UMLS:C0241210 xref: UMLS:C0454644 is_a: HP:0002167 ! Abnormal speech pattern is_a: HP:0002463 ! Language impairment is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0000751 name: Personality changes def: "An abnormal shift in patterns of thinking, acting, or feeling." [] comment: This term refers to changes in personality that are perceived as abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. synonym: "Personality change" EXACT layperson [] synonym: "Personality changes" EXACT layperson [] xref: SNOMEDCT_US:102943000 xref: SNOMEDCT_US:192073007 xref: UMLS:C0240735 is_a: HP:0031466 ! Impairment in personality functioning property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000752 name: Hyperactivity alt_id: HP:0008764 def: "Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate." [] synonym: "Hyperactive behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Hyperactive behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Hyperkinetic disorder" EXACT [] synonym: "hyperkinetic disorder" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "More active than typical" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0002-6548-5200, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:44548000 xref: UMLS:C0424295 is_a: HP:0000734 ! Disinhibition property_value: terms:contributor https://orcid.org/0000-0001-6624-2975 property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-2984-1124 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0002-4691-7362 property_value: terms:contributor https://orcid.org/0000-0002-6581-7754 property_value: terms:contributor https://orcid.org/0000-0002-7674-1767 property_value: terms:contributor https://orcid.org/0000-0003-2598-6622 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:contributor https://orcid.org/0000-0003-4014-4490 [Term] id: HP:0000753 name: Autism with high cognitive abilities xref: UMLS:C4025832 is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000756 name: Agoraphobia def: "A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather." [] synonym: "Fear of open spaces" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:247830007 xref: SNOMEDCT_US:70691001 xref: UMLS:C0001818 is_a: HP:5200232 ! Phobia property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0692-412X property_value: terms:contributor https://orcid.org/0000-0002-7405-0954 property_value: terms:contributor https://orcid.org/0000-0003-0072-5522 property_value: terms:contributor https://orcid.org/0000-0003-0224-647X property_value: terms:contributor https://orcid.org/0000-0003-3398-7270 property_value: terms:contributor https://orcid.org/0009-0004-0873-4444 [Term] id: HP:0000757 name: Lack of insight def: "Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability." [] comment: Reduced insight distinguishes itself from other misconceptions of reality by typically stemming not from the presence of false beliefs or hallucinations, but rather from a deficiency in the cognitive capacity needed to accurately comprehend one's environment. synonym: "Anosognosia" EXACT [] synonym: "Lack of insight" EXACT layperson [] xref: SNOMEDCT_US:24340004 xref: UMLS:C0233824 is_a: HP:5200401 ! Abnormal judgment [Term] id: HP:0000758 name: Abnormal nonverbal communicative behavior def: "Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication." [] synonym: "Abnormal nonverbal communicative behavior" EXACT [] synonym: "Impaired use of nonverbal behaviors" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] synonym: "Impaired use of nonverbal behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] xref: UMLS:C4021798 is_a: HP:0034434 ! Abnormal communication property_value: terms:contributor https://orcid.org/0000-0001-5395-5036 property_value: terms:contributor https://orcid.org/0000-0001-6886-767X property_value: terms:contributor https://orcid.org/0000-0001-8423-2623 property_value: terms:contributor https://orcid.org/0000-0001-9112-5148 property_value: terms:contributor https://orcid.org/0000-0001-9114-8737 property_value: terms:contributor https://orcid.org/0000-0002-0375-6247 property_value: terms:contributor https://orcid.org/0000-0002-2414-5605 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4487-3589 property_value: terms:contributor https://orcid.org/0000-0002-6670-9157 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 [Term] id: HP:0000759 name: Abnormal peripheral nervous system morphology alt_id: HP:0003483 def: "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)." [https://orcid.org/0000-0002-0736-9199] comment: The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. synonym: "Abnormal peripheral nervous system structure" EXACT layperson [] synonym: "Peripheral nervous system disease" RELATED [] xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:42658009 xref: UMLS:C0031117 xref: UMLS:C4025831 is_a: HP:0012639 ! Abnormal nervous system morphology [Term] id: HP:0000762 name: Decreased nerve conduction velocity alt_id: HP:0000761 alt_id: HP:0007118 alt_id: HP:0007218 alt_id: HP:0007231 def: "A reduction in the speed at which electrical signals propagate along the axon of a neuron." [https://orcid.org/0000-0002-0736-9199] comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. synonym: "Decreased NCV" EXACT [] synonym: "Decreased nerve conduction velocities" EXACT [] synonym: "Delayed nerve conduction velocity" EXACT [] synonym: "Reduced nerve conduction velocities" EXACT [] synonym: "Slow nerve conduction velocity" EXACT [] synonym: "Slowed nerve conduction velocities" EXACT [] xref: UMLS:C1857640 is_a: HP:0040129 ! Abnormal nerve conduction velocity [Term] id: HP:0000763 name: Sensory neuropathy alt_id: HP:0003410 alt_id: HP:0006815 alt_id: HP:0007043 alt_id: HP:0007142 def: "Peripheral neuropathy affecting the sensory nerves." [https://orcid.org/0000-0002-0736-9199] synonym: "Damage to nerves that sense feeling" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Peripheral sensory neuropathy" EXACT [] xref: SNOMEDCT_US:95662005 xref: UMLS:C0151313 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0000764 name: Peripheral axonal degeneration alt_id: HP:0006787 alt_id: HP:0006876 alt_id: HP:0007304 def: "Progressive deterioration of peripheral axons." [https://orcid.org/0000-0002-0736-9199] comment: This finding is typically demonstrated by nerve biopsy. xref: UMLS:C4025830 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0000765 name: Abnormal thorax morphology alt_id: HP:0100655 def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the chest" EXACT layperson [] synonym: "Abnormality of the thorax" EXACT [] synonym: "Structural abnormality of the chest wall" EXACT [] xref: UMLS:C4021797 is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000766 name: Abnormal sternum morphology alt_id: HP:0000780 alt_id: HP:0006586 alt_id: HP:0006594 alt_id: HP:0006605 alt_id: HP:0006630 alt_id: HP:0006708 def: "An anomaly of the sternum, also known as the breastbone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the sternum" EXACT layperson [] synonym: "Pectus carinatum or pectus excavatum" EXACT [] synonym: "Pectus deformities" EXACT [] synonym: "Pectus deformity" EXACT [] synonym: "Pectus excavatum or carinatum" EXACT [] synonym: "Pectus excavatum or pectus carinatum" EXACT [] synonym: "Pectus excavatum/carinatum" EXACT [] synonym: "Sternal anomalies" EXACT layperson [] xref: UMLS:C1860493 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000767 name: Pectus excavatum alt_id: HP:0006613 alt_id: HP:0006617 def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Funnel chest" EXACT layperson [] xref: SNOMEDCT_US:391987005 xref: UMLS:C2051831 is_a: HP:0000766 ! Abnormal sternum morphology [Term] id: HP:0000768 name: Pectus carinatum alt_id: HP:0006639 def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Pigeon chest" EXACT layperson [https://en.wikipedia.org/wiki/pectus_carinatum, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205101001 xref: UMLS:C0158731 is_a: HP:0000766 ! Abnormal sternum morphology [Term] id: HP:0000769 name: Abnormality of the breast def: "An abnormality of the breast." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the breast" EXACT layperson [] xref: UMLS:C4025829 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000771 name: Gynecomastia alt_id: HP:0000770 def: "Abnormal development of large mammary glands in males resulting in breast enlargement." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Enlarged male breast" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Gynaecomastia" EXACT [] xref: SNOMEDCT_US:4754008 xref: UMLS:C0018418 is_a: HP:0031093 ! Abnormal breast morphology [Term] id: HP:0000772 name: Abnormal rib morphology alt_id: HP:0006618 def: "An anomaly of the rib." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the ribs" EXACT layperson [] synonym: "Rib abnormalities" EXACT layperson [] synonym: "Rib anomalies" EXACT [] xref: UMLS:C1842083 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0000773 name: Short ribs alt_id: HP:0000899 alt_id: HP:0000908 alt_id: HP:0009750 def: "Reduced rib length." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic ribs" EXACT [] synonym: "Rib hypoplasia" EXACT [] synonym: "Short ribs" EXACT layperson [] xref: SNOMEDCT_US:249696007 xref: UMLS:C0426817 is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000774 name: Narrow chest alt_id: HP:0000909 alt_id: HP:0005252 alt_id: HP:0006588 def: "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [https://orcid.org/0000-0002-0736-9199] synonym: "Low chest circumference" EXACT layperson [] synonym: "Narrow chest" EXACT layperson [] synonym: "Narrow shoulders" EXACT layperson [] synonym: "Narrow thorax" EXACT [] synonym: "Reduced anterior-posterior chest diameter" EXACT [] xref: SNOMEDCT_US:249671009 xref: UMLS:C0426790 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0000775 name: Abnormality of the diaphragm alt_id: HP:0005204 def: "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the diaphragm" EXACT layperson [] synonym: "Diaphragm issues" EXACT layperson [] synonym: "Diaphragmatic defect" EXACT layperson [] xref: UMLS:C1848873 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0000776 name: Congenital diaphragmatic hernia alt_id: HP:0006604 def: "The presence of a hernia of the diaphragm present at birth." [https://orcid.org/0000-0002-0736-9199] comment: Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. synonym: "Diaphragmatic hernia" EXACT [] xref: SNOMEDCT_US:17190001 xref: UMLS:C0235833 is_a: HP:0000775 ! Abnormality of the diaphragm is_a: HP:0100790 ! Hernia [Term] id: HP:0000777 name: Abnormal thymus morphology def: "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the thymus" EXACT layperson [] xref: SNOMEDCT_US:93297002 xref: UMLS:C0262650 xref: UMLS:C0685891 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0000778 name: Hypoplasia of the thymus def: "Underdevelopment of the thymus." [https://orcid.org/0000-0002-0736-9199] synonym: "Small thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Thymic hypoplasia" EXACT [] synonym: "Thymus hypoplasia" EXACT [] xref: SNOMEDCT_US:93297002 xref: UMLS:C0685891 xref: UMLS:C4228227 is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus [Term] id: HP:0000782 name: Abnormal scapula morphology def: "Any abnormality of the scapula, also known as the shoulder blade." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025828 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000786 name: Primary amenorrhea xref: SNOMEDCT_US:8913004 xref: UMLS:C0232939 is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000787 name: Nephrolithiasis alt_id: HP:0000102 def: "The presence of calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] comment: Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. The resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. synonym: "Kidney stones" EXACT layperson [] synonym: "Renal calculi" EXACT [] synonym: "Renal stones" EXACT [] xref: UMLS:C0392525 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000789 name: Infertility synonym: "Infertility" EXACT layperson [] xref: SNOMEDCT_US:15296000 xref: SNOMEDCT_US:8619003 xref: UMLS:C0021359 is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000790 name: Hematuria def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood in urine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "High urine occult blood" BROAD layperson [] xref: SNOMEDCT_US:34436003 xref: SNOMEDCT_US:53298000 xref: UMLS:C0018965 is_a: HP:0012211 ! Abnormal renal physiology is_a: HP:0012614 ! Abnormal urine cytology [Term] id: HP:0000791 name: Uric acid nephrolithiasis def: "The presence of uric acid-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Uric acid stones" EXACT layperson [] synonym: "Uric acid urolithiasis" EXACT [] xref: SNOMEDCT_US:267441009 xref: UMLS:C0403719 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000793 name: Membranoproliferative glomerulonephritis def: "A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity" [PMID:19908070] synonym: "Mesangiocapillary glomerulonephritis" EXACT [] synonym: "MPGN" EXACT abbreviation [] xref: SNOMEDCT_US:80321008 xref: UMLS:C0017662 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000794 name: IgA deposition in the glomerulus def: "The presence of immunoglobulin A deposits in the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "IgA nephropathy" RELATED [] xref: SNOMEDCT_US:236407003 xref: SNOMEDCT_US:68779003 xref: UMLS:C0017661 xref: UMLS:C4025827 is_a: HP:0030949 ! Glomerular deposits [Term] id: HP:0000795 name: Abnormality of the urethra def: "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Urethra issue" EXACT layperson [] xref: UMLS:C4025826 is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000796 name: Urethral obstruction def: "Obstruction of the flow of urine through the urethra." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:95588004 xref: UMLS:C0041972 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000798 name: Oligozoospermia def: "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen." [https://orcid.org/0000-0002-0736-9199] synonym: "Low sperm count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Oligospermia" EXACT [] xref: UMLS:C0028960 is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000799 name: Renal steatosis def: "Abnormal fat accumulation in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Fatty kidney" EXACT layperson [] xref: UMLS:C4021796 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000800 name: Cystic renal dysplasia alt_id: HP:0008737 synonym: "Bilateral cystic dysplasia" EXACT [] synonym: "Renal cystic dysplasia" EXACT [] synonym: "Renal dysplasia, cystic" EXACT [] xref: UMLS:C1834931 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000802 name: Impotence def: "Inability to develop or maintain an erection of the penis." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty getting a full erection" EXACT layperson [] synonym: "Difficulty getting an erection" EXACT layperson [] xref: SNOMEDCT_US:397803000 xref: UMLS:C0242350 is_a: HP:0100639 ! Erectile dysfunction [Term] id: HP:0000803 name: Renal cortical cysts def: "Cysts of the cortex of the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Cortical cysts" EXACT [] xref: UMLS:C1969144 is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormal renal cortex morphology [Term] id: HP:0000804 name: Xanthine nephrolithiasis def: "The presence of xanthine-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Urinary xanthine stones" EXACT [] synonym: "Xanthine stones" EXACT [] xref: UMLS:C1848431 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000805 name: Enuresis def: "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:8009008 xref: UMLS:C0014394 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000807 name: Glanular hypospadias def: "A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip." [PMID:28190103] comment: Glanular hypospadias is the mildest form of hypospadias. synonym: "Balanic hypospadias" EXACT [] xref: SNOMEDCT_US:204891000 xref: SNOMEDCT_US:429631000124104 xref: UMLS:C0452168 is_a: HP:0003244 ! Penile hypospadias [Term] id: HP:0000808 name: Penoscrotal hypospadias def: "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204889008 xref: UMLS:C0452147 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000809 name: Urinary tract atresia def: "Congenital absence of the normal opening of a structure of the urinary tract." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1389003 is_a: HP:0000079 ! Abnormality of the urinary system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T04:07:00Z [Term] id: HP:0000811 name: Abnormal external genitalia morphology def: "A structural anomaly of the external genitalia." [] synonym: "Abnormal external genitalia" EXACT layperson [] xref: UMLS:C4025825 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0000812 name: Abnormal internal genitalia def: "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal internal genitalia" EXACT layperson [] xref: UMLS:C4025824 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0000813 name: Bicornuate uterus alt_id: HP:0008735 def: "The presence of a bicornuate uterus." [https://orcid.org/0000-0002-0736-9199] comment: Uterus with two horn-shaped branches. synonym: "Heart shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Heart-shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Uterus bicornis" EXACT [] xref: SNOMEDCT_US:31401003 xref: UMLS:C0266387 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0000815 name: Hypergonadotropic hypogonadism alt_id: HP:0008679 def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypergonadotrophic hypogonadism" EXACT [] synonym: "Primary hypogonadism" EXACT [] xref: SNOMEDCT_US:370999003 xref: UMLS:C0948896 is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000816 name: Abnormality of Krebs cycle metabolism def: "An abnormality of the tricarboxylic acid cycle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of citric acid cycle" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the tricarboxylic cycle" EXACT [] xref: UMLS:C4021795 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T12:58:00Z [Term] id: HP:0000817 name: Reduced eye contact def: "A reduced frequency or duration of eye contact." [] comment: Eye contact, defined as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. synonym: "Poor eye contact" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] xref: SNOMEDCT_US:412786000 xref: UMLS:C1445953 is_a: HP:0034435 ! Abnormal eye contact property_value: terms:contributor https://orcid.org/0000-0001-9112-5148 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-6670-9157 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 [Term] id: HP:0000818 name: Abnormality of the endocrine system def: "An abnormality of the endocrine system." [https://orcid.org/0000-0002-0736-9199] comment: The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. synonym: "Endocrine system disease" RELATED [] xref: SNOMEDCT_US:362969004 xref: UMLS:C0014130 xref: UMLS:C4025823 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000819 name: Diabetes mellitus alt_id: HP:0004908 alt_id: HP:0008217 alt_id: HP:0008234 alt_id: HP:0008260 def: "A group of abnormalities characterized by hyperglycemia and glucose intolerance." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:73211009 xref: UMLS:C0011849 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0001952 ! Glucose intolerance [Term] id: HP:0000820 name: Abnormality of the thyroid gland def: "An abnormality of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the thyroid gland" EXACT layperson [] synonym: "Thyroid abnormality" EXACT layperson [] synonym: "Thyroid disease" RELATED layperson [] xref: SNOMEDCT_US:14304000 xref: UMLS:C0040128 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000821 name: Hypothyroidism alt_id: HP:0003222 alt_id: HP:0008203 def: "Deficiency of thyroid hormone." [https://orcid.org/0000-0002-0736-9199] synonym: "Low T4" EXACT [] synonym: "Underactive thyroid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:40930008 xref: UMLS:C0020676 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000822 name: Hypertension alt_id: HP:0004949 alt_id: HP:0005126 def: "The presence of chronic increased pressure in the systemic arterial system." [https://orcid.org/0000-0002-0736-9199] comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. synonym: "Arterial hypertension" EXACT [] synonym: "High blood pressure" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Systemic hypertension" EXACT [] xref: SNOMEDCT_US:24184005 xref: SNOMEDCT_US:38341003 xref: UMLS:C0020538 xref: UMLS:C0497247 is_a: HP:0032263 ! Increased blood pressure [Term] id: HP:0000823 name: Delayed puberty alt_id: HP:0008859 alt_id: HP:0010466 alt_id: HP:0010467 def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [https://orcid.org/0000-0002-0736-9199] comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. synonym: "Delayed pubertal development" EXACT layperson [] synonym: "Delayed pubertal growth" EXACT layperson [] synonym: "Delayed puberty" EXACT layperson [] synonym: "Pubertal delay" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:123526007 xref: SNOMEDCT_US:400003000 xref: UMLS:C0034012 is_a: HP:0001510 ! Growth delay is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000824 name: Decreased response to growth hormone stimulation test alt_id: HP:0000861 alt_id: HP:0008195 alt_id: HP:0008206 def: "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [https://orcid.org/0000-0002-0736-9199, PMID:25914878] comment: GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. xref: SNOMEDCT_US:2109003 xref: UMLS:C3714796 is_a: HP:0000830 ! Anterior hypopituitarism is_a: HP:0031073 ! Abnormal response to endocrine stimulation test [Term] id: HP:0000825 name: Hyperinsulinemic hypoglycemia def: "An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. synonym: "Hyperinsulinaemic hypoglycaemia" EXACT [] synonym: "Hyperinsulinemia hypoglycemia" EXACT [] xref: UMLS:C1864903 is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0000826 name: Precocious puberty def: "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [https://orcid.org/0000-0002-0736-9199] synonym: "Early onset of puberty" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Early puberty" EXACT layperson [] xref: SNOMEDCT_US:123527003 xref: SNOMEDCT_US:400179000 xref: UMLS:C0034013 is_a: HP:0100000 ! Early onset of sexual maturation [Term] id: HP:0000828 name: Abnormality of the parathyroid gland def: "An abnormality of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199] comment: There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. synonym: "Parathyroid disease" RELATED [] xref: SNOMEDCT_US:73132005 xref: UMLS:C0030517 xref: UMLS:C4025822 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000829 name: Hypoparathyroidism alt_id: HP:0000856 alt_id: HP:0008292 def: "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased parathyroid hormone secretion" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Low parathyroid hormone" EXACT [] xref: SNOMEDCT_US:36976004 xref: UMLS:C0020626 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000830 name: Anterior hypopituitarism def: "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025821 is_a: HP:0040075 ! Hypopituitarism [Term] id: HP:0000831 name: Insulin-resistant diabetes mellitus def: "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels." [https://orcid.org/0000-0002-0736-9199, PMID:7706500] synonym: "Insulin resistant diabetes" EXACT layperson [] synonym: "Insulin resistant diabetes mellitus" EXACT [] synonym: "Insulin-resistant diabetes" EXACT layperson [] xref: UMLS:C0854110 is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0000855 ! Insulin resistance [Term] id: HP:0000832 name: Primary hypothyroidism def: "A type of hypothyroidism that results from a defect in the thyroid gland." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111566002 xref: UMLS:C0700502 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000833 name: obsolete Glucose intolerance is_obsolete: true replaced_by: HP:0001952 [Term] id: HP:0000834 name: Abnormality of the adrenal glands def: "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Adrenal abnormalities" EXACT layperson [] synonym: "Adrenal gland disease" RELATED layperson [] xref: SNOMEDCT_US:30171000 xref: UMLS:C0001621 xref: UMLS:C4021794 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000835 name: Adrenal hypoplasia def: "Developmental hypoplasia of the adrenal glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Adrenal gland hypoplasia" EXACT [] synonym: "Hypoplastic adrenal glands" EXACT [] synonym: "Small adrenal glands" EXACT layperson [] synonym: "Underdeveloped adrenal glands" EXACT [] xref: SNOMEDCT_US:237774001 xref: UMLS:C0342491 xref: UMLS:C1846223 is_a: HP:0011732 ! Abnormal adrenal morphology [Term] id: HP:0000836 name: Hyperthyroidism alt_id: HP:0008241 def: "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." [https://orcid.org/0000-0002-0736-9199] synonym: "Overactive thyroid" EXACT layperson [http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:34486009 xref: UMLS:C0020550 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000837 name: Increased circulating gonadotropin level alt_id: HP:0030340 def: "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Elevated gonadotropins" EXACT layperson [] synonym: "Elevated serum gonadotropins" EXACT layperson [] synonym: "Gonadotropin excess" EXACT layperson [] synonym: "Increased circulating gonadotropin level" EXACT layperson [] xref: UMLS:C1862265 is_a: HP:0010514 ! Hyperpituitarism is_a: HP:0030338 ! Abnormal circulating gonadotropin concentration [Term] id: HP:0000839 name: Pituitary dwarfism def: "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:367460001 xref: SNOMEDCT_US:7530009 xref: UMLS:C0013338 is_a: HP:0004322 ! Short stature [Term] id: HP:0000840 name: Adrenogenital syndrome alt_id: HP:0001921 def: "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:237751000 xref: SNOMEDCT_US:267395000 xref: SNOMEDCT_US:271077003 xref: UMLS:C0302280 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000841 name: Hyperactive renin-angiotensin system def: "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms." [https://orcid.org/0000-0002-0736-9199] comment: If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. synonym: "Increased plasma renin activity" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1846345 xref: UMLS:C3150267 is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0000842 name: Hyperinsulinemia def: "An increased concentration of insulin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated insulin level" EXACT [] xref: SNOMEDCT_US:83469008 xref: UMLS:C0020459 is_a: HP:0011014 ! Abnormal glucose homeostasis is_a: HP:0040214 ! Abnormal circulating insulin concentration [Term] id: HP:0000843 name: Hyperparathyroidism def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated blood parathyroid hormone level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:66999008 xref: UMLS:C0020502 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000845 name: Elevated circulating growth hormone concentration alt_id: HP:0008856 def: "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] comment: Disorder resulting from excess pituitary gland production of growth hormone (hGH). synonym: "Elevated circulating somatotropin concentration" EXACT [] synonym: "Growth hormone excess" EXACT layperson [] synonym: "Somatotropin excess" EXACT [] xref: SNOMEDCT_US:74107003 xref: UMLS:C0001206 xref: UMLS:C0235986 is_a: HP:0010514 ! Hyperpituitarism is_a: HP:0032367 ! Abnormal growth hormone level [Term] id: HP:0000846 name: Adrenal insufficiency alt_id: HP:0000865 alt_id: HP:0008218 def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands." [https://orcid.org/0000-0002-0736-9199, PMID:11443143] comment: Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. synonym: "Hypoadrenalism" EXACT [] xref: SNOMEDCT_US:111563005 xref: SNOMEDCT_US:237785004 xref: SNOMEDCT_US:386584007 xref: UMLS:C0001623 is_a: HP:0011733 ! Abnormality of adrenal physiology [Term] id: HP:0000847 name: Abnormality of renin-angiotensin system alt_id: HP:0003350 def: "An abnormality of the renin-angiotensin system." [https://orcid.org/0000-0002-0736-9199] comment: The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. synonym: "Abnormality of the renin-aldosterone axis" EXACT [] xref: UMLS:C4021793 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000848 name: Increased circulating renin concentration alt_id: HP:0003615 def: "An increased level of renin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated blood renin level" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Elevated plasma renin" EXACT [] synonym: "Hyperreninemia" EXACT [] synonym: "Increased circulating renin level" EXACT [] synonym: "Increased plasma renin" EXACT [] synonym: "Increased serum renin" EXACT [] xref: UMLS:C0240783 is_a: HP:0040084 ! Abnormal circulating renin concentration [Term] id: HP:0000849 name: Adrenocortical abnormality xref: UMLS:C4025820 is_a: HP:0011732 ! Abnormal adrenal morphology [Term] id: HP:0000851 name: Congenital hypothyroidism def: "A type of hypothyroidism with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypothyroidism, congenital" EXACT [] synonym: "Underactive thyroid gland from birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:190268003 xref: SNOMEDCT_US:217710005 xref: UMLS:C0010308 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000852 name: Pseudohypoparathyroidism def: "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:58976002 xref: UMLS:C0033806 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000853 name: Goiter def: "An enlargement of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged thyroid gland in neck" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Goitre" EXACT uk_spelling [] synonym: "Thyroid goiter" EXACT [] synonym: "Thyroid goitre" EXACT uk_spelling [] xref: SNOMEDCT_US:3716002 xref: UMLS:C0018021 is_a: HP:0011772 ! Abnormal thyroid morphology [Term] id: HP:0000854 name: Thyroid adenoma def: "The presence of a adenoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C2855 xref: SNOMEDCT_US:255033000 xref: SNOMEDCT_US:255034006 xref: UMLS:C0151468 is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0000855 name: Insulin resistance def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [https://orcid.org/0000-0002-0736-9199] synonym: "Body fails to respond to insulin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:48606007 xref: UMLS:C0021655 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000857 name: Neonatal insulin-dependent diabetes mellitus xref: UMLS:C3278636 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000858 name: Irregular menstruation def: "Abnormally high variation in the amount of time between periods." [PMID:29323693] comment: Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. synonym: "Irregular menses" EXACT [] synonym: "Irregular periods" EXACT [] synonym: "Menstrual irregularities" EXACT [] synonym: "Menstrual irregularity" EXACT layperson [] xref: SNOMEDCT_US:80182007 xref: UMLS:C0156404 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000859 name: Increased circulating aldosterone concentration alt_id: HP:0004318 alt_id: HP:0005975 def: "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Elevated plasma aldosterone" EXACT layperson [] synonym: "Hyperaldosteronism" RELATED [] synonym: "Increased aldosterone" EXACT layperson [] synonym: "Increased aldosterone production" EXACT layperson [] synonym: "Mineralocorticoid excess" EXACT [] xref: SNOMEDCT_US:88213004 xref: UMLS:C0020428 is_a: HP:0040085 ! Abnormal circulating aldosterone concentration [Term] id: HP:0000860 name: Parathyroid hypoplasia def: "Developmental hypoplasia of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Small parathyroid glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped parathyroid glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1389851 is_a: HP:0011768 ! Parathyroid dysgenesis [Term] id: HP:0000863 name: Central diabetes insipidus alt_id: HP:0008210 def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [https://orcid.org/0000-0002-0736-9199] synonym: "Neurohypophyseal diabetes insipidus" EXACT [] xref: SNOMEDCT_US:45369008 xref: UMLS:C0687720 is_a: HP:0000873 ! Diabetes insipidus [Term] id: HP:0000864 name: Abnormality of the hypothalamus-pituitary axis alt_id: HP:0000838 alt_id: HP:0000844 def: "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [https://orcid.org/0000-0002-0538-4547] xref: UMLS:C4025819 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000866 name: Euthyroid multinodular goiter synonym: "Euthyroid multinodular goitre" EXACT uk_spelling [] xref: UMLS:C1846034 is_a: HP:0009798 ! Euthyroid goiter [Term] id: HP:0000867 name: Secondary hyperparathyroidism def: "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia." [https://orcid.org/0000-0002-0736-9199, PMID:19836494] comment: Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. xref: SNOMEDCT_US:91478007 xref: UMLS:C0020503 is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0000868 name: Decreased fertility in females synonym: "Decreased fertility in females" EXACT layperson [] synonym: "Reduced fertility in females" EXACT layperson [] xref: UMLS:C0151639 is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000869 name: Secondary amenorrhea synonym: "Previous menstrual periods stop" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:86030004 xref: UMLS:C0232940 is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000870 name: Increased circulating prolactin concentration def: "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Hyperprolactinaemia" EXACT [] synonym: "Hyperprolactinemia" EXACT [] synonym: "Prolactin excess" EXACT [] xref: SNOMEDCT_US:237662005 xref: UMLS:C0020514 is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000871 name: Panhypopituitarism def: "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [https://orcid.org/0000-0002-0736-9199, PMID:12466332] xref: SNOMEDCT_US:32390006 xref: UMLS:C0242343 is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0000872 name: Hashimoto thyroiditis def: "A chronic, autoimmune type of thyroiditis associated with hypothyroidism." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic lymphocytic thyroiditis" EXACT [] synonym: "Hashimoto's thyroiditis" EXACT [] xref: SNOMEDCT_US:21983002 xref: UMLS:C0677607 is_a: HP:0002960 ! Autoimmunity is_a: HP:0100646 ! Thyroiditis [Term] id: HP:0000873 name: Diabetes insipidus def: "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:15771004 xref: UMLS:C0011848 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000875 name: Episodic hypertension synonym: "Intermittent high blood pressure" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1857175 is_a: HP:0000822 ! Hypertension [Term] id: HP:0000876 name: Oligomenorrhea def: "Infrequent menses (less than 6 per year or more than 35 days between cycles)." [https://orcid.org/0000-0002-0736-9199, PMID:22594864] synonym: "Light or infrequent menstrual periods" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:52073004 xref: UMLS:C0028949 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000877 name: Insulin-resistant diabetes mellitus at puberty synonym: "Insulin-resistant diabetes mellitus at puberty" EXACT layperson [] xref: UMLS:C1837792 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000878 name: 11 pairs of ribs def: "Presence of only 11 pairs of ribs." [https://orcid.org/0000-0002-0736-9199] comment: Normally, there are 12 pairs of ribs. subset: hposlim_core synonym: "11 pairs of ribs" EXACT layperson [] xref: UMLS:C1839731 is_a: HP:0000921 ! Missing ribs [Term] id: HP:0000879 name: Short sternum def: "Decreased inferosuperior length of the sternum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic sternum" RELATED [] synonym: "Short sternum" EXACT layperson [] xref: SNOMEDCT_US:298724002 xref: UMLS:C0575497 xref: UMLS:C4020883 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0000882 name: Hypoplastic scapulae alt_id: HP:0000906 alt_id: HP:0006616 def: "Underdeveloped scapula." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic scapula" EXACT [] synonym: "Scapular hypoplasia" EXACT [] synonym: "Short scapulae" EXACT [] synonym: "Small scapula" EXACT [] synonym: "Small scapulae" EXACT [] synonym: "Small shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846434 is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae [Term] id: HP:0000883 name: Thin ribs def: "Ribs with a reduced diameter." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Slender ribs" EXACT layperson [] synonym: "Thin ribs" EXACT layperson [] xref: SNOMEDCT_US:249697003 xref: UMLS:C0426818 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000884 name: Prominent sternum synonym: "Prominent sternum" EXACT layperson [] synonym: "Sternal protrusion" EXACT [] xref: UMLS:C1846433 is_a: HP:0000766 ! Abnormal sternum morphology [Term] id: HP:0000885 name: Broad ribs alt_id: HP:0000903 alt_id: HP:0000950 alt_id: HP:0006667 def: "Increased width of ribs" [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Broad ribs" EXACT layperson [] synonym: "Wide ribs" EXACT layperson [] xref: UMLS:C1848654 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000886 name: Deformed rib cage def: "Malformation of the rib cage." [https://orcid.org/0000-0002-0736-9199] synonym: "Deformed rib cage" EXACT layperson [] xref: UMLS:C1838659 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0000887 name: Cupped ribs alt_id: HP:0006635 def: "Wide, concave rib end." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cupped ribs" EXACT layperson [] synonym: "Rib cupping" EXACT layperson [] synonym: "Rib flaring" RELATED layperson [] xref: SNOMEDCT_US:249704008 xref: UMLS:C0426826 xref: UMLS:C1865039 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000888 name: Horizontal ribs def: "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12." [https://orcid.org/0000-0002-0736-9199] synonym: "Horizontal ribs" EXACT layperson [] xref: UMLS:C3806510 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000889 name: Abnormal clavicle morphology def: "Any abnormality of the clavicles (collar bones)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal clavicles" EXACT [] synonym: "Abnormal collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the clavicle" EXACT [] xref: UMLS:C4021792 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000890 name: Long clavicles alt_id: HP:0006592 def: "Increased length of the clavicles." [https://orcid.org/0000-0002-0736-9199] synonym: "Elongated clavicles" EXACT [] synonym: "Long collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:249687007 xref: UMLS:C0426808 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0000891 name: Cervical ribs subset: hposlim_core xref: SNOMEDCT_US:72535009 xref: UMLS:C0158779 is_a: HP:0005815 ! Supernumerary ribs [Term] id: HP:0000892 name: Bifid ribs def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Split ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4721788 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000893 name: Bulging of the costochondral junction def: "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage." [https://orcid.org/0000-0002-0736-9199] comment: The costochondral junction is the structure where the ribs articulate with the sternum. xref: UMLS:C1848538 is_a: HP:0000766 ! Abnormal sternum morphology is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000894 name: Short clavicles alt_id: HP:0000898 alt_id: HP:0005698 alt_id: HP:0005902 def: "Reduced length of the clavicles." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Clavicular hypoplasia" EXACT [] synonym: "Hypoplastic clavicles" EXACT [] synonym: "Short collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped clavicles" EXACT [] xref: SNOMEDCT_US:93250003 xref: UMLS:C0426799 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0000895 name: Lateral clavicle hook def: "An excessive upward convexity of the lateral clavicle." [https://orcid.org/0000-0002-0736-9199, PMID:7322653] synonym: "Handlebar clavicle" EXACT [] synonym: "Hook-shaped clavicle" EXACT [] synonym: "Hook-shaped collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hooked clavicle" EXACT [] xref: SNOMEDCT_US:249684000 xref: UMLS:C0426805 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0000896 name: Rib exostoses def: "Multiple circumscribed bony excrescences located in the ribs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1835579 is_a: HP:0000772 ! Abnormal rib morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0000897 name: Rachitic rosary def: "A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib." [https://orcid.org/0000-0002-0736-9199, PMID:26745253] comment: Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene. xref: SNOMEDCT_US:15214001 xref: SNOMEDCT_US:249702007 is_a: HP:0000766 ! Abnormal sternum morphology is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000900 name: Thickened ribs def: "Increased thickness (diameter) of ribs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:249699000 xref: UMLS:C0426820 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000902 name: Rib fusion alt_id: HP:0000880 def: "Complete or partial merging of adjacent ribs." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused ribs" EXACT layperson [] synonym: "Rib fusion" EXACT layperson [] xref: UMLS:C1844749 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000904 name: Flaring of rib cage alt_id: HP:0006656 def: "The presence of wide, concave anterior rib ends." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior flaring of ribs" EXACT [] synonym: "Flaring of rib cage" EXACT layperson [] xref: UMLS:C1854780 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000905 name: Progressive clavicular acroosteolysis def: "Progressive bone resorption in the distal part of the clavicle." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive acroosteolysis of the clavicle" EXACT [] xref: UMLS:C1837757 is_a: HP:0000889 ! Abnormal clavicle morphology is_a: HP:0002797 ! Osteolysis [Term] id: HP:0000907 name: Anterior rib cupping alt_id: HP:0006601 def: "Wide, concave anterior rib end." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior cupping of ribs" EXACT [] synonym: "Anteriorly splayed ribs" EXACT [] xref: UMLS:C1846154 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000910 name: Wide-cupped costochondral junctions xref: UMLS:C1861213 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000911 name: Flat glenoid fossa def: "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199, PMID:15163819] comment: See PMID:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa. xref: UMLS:C1855177 is_a: HP:0011912 ! Abnormality of the glenoid fossa [Term] id: HP:0000912 name: Sprengel anomaly alt_id: HP:0006621 def: "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)." [https://orcid.org/0000-0002-0736-9199] comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. subset: hposlim_core synonym: "Congenital, upward displacement of the scapula" EXACT [] synonym: "High scapula" EXACT [https://en.wikipedia.org/wiki/sprengel%27s_deformity, https://orcid.org/0000-0001-5208-3432] synonym: "High shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Sprengel deformity" EXACT [] xref: MEDDRA:10010455 "Congenital elevation of scapula" xref: SNOMEDCT_US:79120002 xref: UMLS:C0152438 is_a: HP:0000782 ! Abnormal scapula morphology [Term] id: HP:0000913 name: Posterior rib fusion def: "Complete or partial merging of the posterior part of adjacent ribs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1842084 is_a: HP:0000902 ! Rib fusion [Term] id: HP:0000914 name: Shield chest def: "A broad chest." [https://orcid.org/0000-0002-0736-9199, PMID:22368597] comment: Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome. synonym: "Broad chest" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Shield chest" EXACT layperson [] xref: UMLS:C1834124 xref: UMLS:C1839248 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0000915 name: Pectus excavatum of inferior sternum def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [https://orcid.org/0000-0002-0736-9199] synonym: "Pectus excavatum inferiorly" EXACT [] xref: UMLS:C1864796 is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0000916 name: Broad clavicles alt_id: HP:0006651 def: "Increased width (cross-sectional diameter) of the clavicles." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Broad collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:249680009 xref: UMLS:C0426801 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0000917 name: Superior pectus carinatum def: "Pectus carinatum affecting primarily the superior part of the sternum." [https://orcid.org/0000-0002-0736-9199] synonym: "Pectus carinatum superiorly" EXACT [] xref: UMLS:C1864795 is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0000918 name: Scapular exostoses def: "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage." [https://orcid.org/0000-0002-0736-9199] synonym: "Scapulae exostoses" EXACT [] synonym: "Shoulder bone exostoes" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1851415 is_a: HP:0000782 ! Abnormal scapula morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0000919 name: Abnormality of the costochondral junction def: "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [https://orcid.org/0000-0002-0736-9199] comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. synonym: "Costochondral juctions abnormal" EXACT [] xref: UMLS:C4021791 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000920 name: Enlargement of the costochondral junction alt_id: HP:0006620 def: "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Costochondral thickening" EXACT [] synonym: "Enlarged costochondral junctions" EXACT [] synonym: "Prominent costochondral junction" EXACT [] synonym: "Wide costochondral junctions" EXACT [] synonym: "Widened costochondral junction" EXACT [] xref: UMLS:C1857180 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000921 name: Missing ribs alt_id: HP:0000881 alt_id: HP:0006627 def: "A developmental anomaly with absence of one or more ribs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent ribs" EXACT layperson [] synonym: "Decreased rib number" EXACT layperson [] synonym: "Missing ribs" EXACT layperson [] xref: SNOMEDCT_US:249695006 xref: UMLS:C0426816 is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000922 name: Posterior rib cupping alt_id: HP:0006622 def: "Wide, concave posterior rib end." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior and posterior rib cupping" EXACT [] xref: UMLS:C1837483 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000923 name: obsolete Beaded ribs is_obsolete: true replaced_by: HP:0006640 [Term] id: HP:0000924 name: Abnormality of the skeletal system def: "An abnormality of the skeletal system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the skeletal system" EXACT layperson [] synonym: "Skeletal abnormalities" EXACT layperson [] synonym: "Skeletal anomalies" EXACT layperson [] xref: UMLS:C4021790 is_a: HP:0033127 ! Abnormality of the musculoskeletal system [Term] id: HP:0000925 name: Abnormality of the vertebral column def: "Any abnormality of the vertebral column." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal spine" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormal vertebral column" EXACT layperson [] synonym: "Abnormality of the backbone" RELATED layperson [] synonym: "Abnormality of the spine" EXACT layperson [] synonym: "Abnormality of the vertebral column" EXACT layperson [] xref: UMLS:C4020882 xref: UMLS:C4021789 is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000926 name: Platyspondyly alt_id: HP:0002940 alt_id: HP:0003421 alt_id: HP:0004595 alt_id: HP:0004623 alt_id: HP:0004627 alt_id: HP:0005123 alt_id: HP:0005644 alt_id: HP:0008466 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Flat vertebral bodies" EXACT [] synonym: "Flattened vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flattened vertebral bodies" EXACT [] xref: UMLS:C1844704 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0000927 name: Abnormality of skeletal maturation def: "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of skeletal maturation" EXACT layperson [] xref: UMLS:C4025818 is_a: HP:0011843 ! Abnormal musculoskeletal physiology [Term] id: HP:0000929 name: Abnormal skull morphology def: "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the skull" EXACT layperson [] synonym: "Abnormality of the skull bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0235942 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000930 name: Elevated imprint of the transverse sinuses synonym: "Elevated imprint of occipital bone over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Elevated imprint of posterior skull bones over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thinning and bulging of occipital bone over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thinning and bulging of posterior skull bones over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025817 is_a: HP:0002693 ! Abnormal skull base morphology [Term] id: HP:0000931 name: Thinning and bulging of the posterior fossa bones synonym: "Thinning and bulging of occipital bone of skull" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Thinning and bulging of posterior fossa bones" EXACT [] synonym: "Thinning and bulging of posterior skull bones" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021788 xref: UMLS:C4280608 is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology [Term] id: HP:0000932 name: Abnormal posterior cranial fossa morphology alt_id: HP:0007306 def: "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." [https://orcid.org/0000-0002-0736-9199, PMID:25970099, PMID:28295149] comment: The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. synonym: "Abnormality of the posterior cranial fossa" EXACT [] synonym: "Abnormality of the posterior fossa" EXACT [] synonym: "Posterior fossa anomaly" EXACT [] xref: UMLS:C3280768 is_a: HP:0002693 ! Abnormal skull base morphology [Term] id: HP:0000933 name: Posterior fossa cyst at the fourth ventricle xref: UMLS:C4025816 is_a: HP:0007109 ! Periventricular cysts is_a: HP:0007291 ! Posterior fossa cyst [Term] id: HP:0000934 name: Chondrocalcinosis def: "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ." [https://orcid.org/0009-0006-4530-3154] synonym: "Calcium deposits in joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:201637001 xref: SNOMEDCT_US:239832006 xref: SNOMEDCT_US:239838005 xref: UMLS:C0553730 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0010766 ! Ectopic calcification is_a: HP:0100685 ! Abnormal Sharpey fiber morphology [Term] id: HP:0000935 name: Thickened cortex of long bones def: "Abnormal thickening of the cortex of long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad cortex of long bones" EXACT [] synonym: "Cortical thickening of the long bones" EXACT [] synonym: "Thickened cortices of long bones" EXACT [] xref: UMLS:C1840418 is_a: HP:0011314 ! Abnormal long bone morphology is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0000938 name: Osteopenia alt_id: HP:0002768 alt_id: HP:0002799 alt_id: HP:0002800 def: "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [https://orcid.org/0000-0002-0736-9199, PMID:21234807] synonym: "Generalised osteopenia" EXACT uk_spelling [] synonym: "Generalized osteopenia" EXACT [] synonym: "Osteopaenia" EXACT uk_spelling [] xref: SNOMEDCT_US:312894000 xref: SNOMEDCT_US:78441005 xref: UMLS:C0029453 xref: UMLS:C0747078 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000939 name: Osteoporosis alt_id: HP:0002774 def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [https://orcid.org/0000-0002-0736-9199, PMID:28293453] comment: Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. xref: SNOMEDCT_US:64859006 xref: UMLS:C0029456 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000940 name: Abnormal diaphysis morphology alt_id: HP:0006504 def: "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality involving the diaphyses of the limbs" EXACT [] synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the diaphyses" EXACT [] synonym: "Anomaly of the limb diaphyses" EXACT [] synonym: "Anomaly of the limb diaphyses morphology" EXACT [] xref: UMLS:C4021787 is_a: HP:0002813 ! Abnormal limb bone morphology is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0000941 name: Short diaphyses synonym: "Short shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025815 is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0000943 name: Dysostosis multiplex alt_id: HP:0002760 xref: SNOMEDCT_US:254069004 xref: SNOMEDCT_US:65327002 xref: UMLS:C0086795 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0000944 name: Abnormal metaphysis morphology alt_id: HP:0006506 def: "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the wide portion of a long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025814 is_a: HP:0002813 ! Abnormal limb bone morphology is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0000946 name: Hypoplastic ilia alt_id: HP:0003176 alt_id: HP:0003178 def: "Underdevelopment of the ilium." [https://orcid.org/0000-0002-0736-9199] synonym: "Short and small iliac bones" EXACT [] synonym: "Small iliac bones" EXACT [] synonym: "Small wings of the pelvic girdle" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861218 xref: UMLS:C4280607 is_a: HP:0002867 ! Abnormal ilium morphology [Term] id: HP:0000947 name: Dumbbell-shaped long bone alt_id: HP:0005061 alt_id: HP:0005071 alt_id: HP:0005075 def: "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Dumbbell widening of long bone metaphyses" EXACT [] synonym: "Dumbbell-shaped long bone" EXACT layperson [] xref: UMLS:C2749582 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0000951 name: Abnormality of the skin alt_id: HP:0001478 alt_id: HP:0001479 alt_id: HP:0005591 alt_id: HP:0006736 alt_id: HP:0007415 alt_id: HP:0007580 def: "An abnormality of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the skin" EXACT layperson [] synonym: "Dermatopathy" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Dermopathy" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Skin abnormality" RELATED [] xref: SNOMEDCT_US:199879009 xref: SNOMEDCT_US:95320005 xref: UMLS:C0037268 xref: UMLS:C0037274 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0000952 name: Jaundice def: "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [https://orcid.org/0000-0002-0736-9199] synonym: "Icterus" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Jaundice" EXACT layperson [] synonym: "Yellow skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Yellowing of the skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:18165001 xref: UMLS:C0022346 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0001396 ! Cholestasis [Term] id: HP:0000953 name: Hyperpigmentation of the skin alt_id: HP:0007527 def: "A darkening of the skin related to an increase in melanin production and deposition." [https://orcid.org/0000-0002-0736-9199] synonym: "Cutaneous hyperpigmentation" EXACT [] synonym: "Hyperpigmented lesion" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Increased skin pigmentation" EXACT [] synonym: "Melanoderma" RELATED [] synonym: "Melanodermia" RELATED [] synonym: "Patchy darkened skin" EXACT layperson [] synonym: "Skin hyperpigmentation" EXACT [] xref: SNOMEDCT_US:4830009 xref: SNOMEDCT_US:49765009 xref: UMLS:C0162834 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000954 name: Single transverse palmar crease alt_id: HP:0006214 def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present). subset: hposlim_core synonym: "Simian crease" EXACT [] synonym: "Simian creases" EXACT [] synonym: "Simian line" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Single flexion crease" EXACT [] synonym: "Single palmar crease" EXACT [] synonym: "Single palmar creases" EXACT [] synonym: "Single transverse palmar creases" EXACT [] synonym: "Transverse palmar crease" EXACT [] xref: SNOMEDCT_US:248409006 xref: UMLS:C0424731 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0000956 name: Acanthosis nigricans alt_id: HP:0007498 alt_id: HP:0007518 alt_id: HP:0007591 def: "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [https://orcid.org/0000-0003-1773-4011, PMID:19061584] comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. subset: secondary_consequence synonym: "Darkened and thickened skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Keratosis nigricans" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:402599005 xref: SNOMEDCT_US:72129000 xref: UMLS:C0000889 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000957 name: Cafe-au-lait spot alt_id: HP:0005601 alt_id: HP:0007454 def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [https://orcid.org/0000-0002-0736-9199] comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. synonym: "Birthmark" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Cafe au lait spots" EXACT [] synonym: "Cafe-au-lait macule" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Cafe-au-lait macules" EXACT [] synonym: "Cafe-au-lait spots" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Flat light-brown mark on skin" BROAD layperson [] xref: SNOMEDCT_US:201281002 xref: SNOMEDCT_US:51089004 xref: UMLS:C0221263 xref: UMLS:C0265974 is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0000958 name: Dry skin def: "Skin characterized by the lack of natural or normal moisture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Dry skin" EXACT layperson [] synonym: "Xerosis" EXACT [] xref: MEDDRA:10048222 "Xerosis" xref: SNOMEDCT_US:16386004 xref: UMLS:C0151908 xref: UMLS:C0259817 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0000960 name: Sacral dimple def: "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft." [https://orcid.org/0000-0002-0736-9199, PMID:28245993] subset: hposlim_core synonym: "Pilonidal dimple" EXACT [] synonym: "Spinal dimple" EXACT layperson [https://en.wikipedia.org/wiki/sacral_dimple, https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:249729002 xref: SNOMEDCT_US:311897005 xref: UMLS:C0426848 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality is_a: HP:0010781 ! Skin dimple [Term] id: HP:0000961 name: Cyanosis def: "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood." [PMID:25658213] synonym: "Blue discoloration of the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:119419001 xref: SNOMEDCT_US:3415004 xref: UMLS:C0010520 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0000962 name: Hyperkeratosis alt_id: HP:0007523 alt_id: HP:0007543 def: "Hyperkeratosis is thickening of the epidermis involving the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Epidermal hyperkeratosis" EXACT [] xref: MEDDRA:10020649 "Hyperkeratosis" xref: SNOMEDCT_US:26996000 xref: SNOMEDCT_US:396228006 xref: SNOMEDCT_US:399955009 xref: UMLS:C0870082 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000963 name: Thin skin alt_id: HP:0001020 def: "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Thin skin" EXACT layperson [] xref: SNOMEDCT_US:277797007 xref: UMLS:C0423757 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0000964 name: Eczematoid dermatitis alt_id: HP:0000976 alt_id: HP:0001481 def: "Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces." [https://orcid.org/0000-0002-0736-9199, PMID:32412211] comment: The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. synonym: "Dermatitis" RELATED [] synonym: "Eczema" EXACT layperson [] xref: SNOMEDCT_US:281104002 xref: SNOMEDCT_US:43116000 xref: UMLS:C0013595 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000965 name: Cutis marmorata alt_id: HP:0001037 def: "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core xref: UMLS:C0263401 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0000966 name: Hypohidrosis alt_id: HP:0007551 alt_id: HP:0007571 def: "Abnormally diminished capacity to sweat." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased ability to sweat" EXACT layperson [] synonym: "Decreased sweating" EXACT layperson [] synonym: "Impaired sweating" EXACT [] synonym: "Inadequate sweating" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Oligohidrosis" EXACT [] synonym: "Sweating, decreased" EXACT layperson [] xref: MEDDRA:10021013 "Hypohidrosis" xref: SNOMEDCT_US:45004005 xref: UMLS:C0020620 is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis [Term] id: HP:0000967 name: Petechiae def: "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [https://orcid.org/0000-0002-0736-9199, PMID:29493956] subset: hposlim_core xref: MEDDRA:10034754 "Petechiae" xref: SNOMEDCT_US:271813007 xref: SNOMEDCT_US:50091001 xref: UMLS:C0031256 is_a: HP:0031365 ! Macular purpura [Term] id: HP:0000968 name: Ectodermal dysplasia alt_id: HP:0007436 alt_id: HP:0007615 def: "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands." [https://orcid.org/0000-0002-0736-9199] comment: This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. xref: SNOMEDCT_US:254154003 xref: SNOMEDCT_US:8654005 xref: UMLS:C0013575 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000969 name: Edema alt_id: HP:0000990 def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [https://orcid.org/0000-0002-0736-9199] comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. synonym: "Dropsy" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Fluid retention" EXACT layperson [] synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] synonym: "Soft tissue swelling" BROAD [] synonym: "Water retention" EXACT layperson [] xref: SNOMEDCT_US:20741006 xref: SNOMEDCT_US:267038008 xref: SNOMEDCT_US:423666004 xref: SNOMEDCT_US:79654002 xref: UMLS:C0013604 is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0000970 name: Anhidrosis def: "Inability to sweat." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Anhydrosis" EXACT [] synonym: "Lack of sweating" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432] synonym: "Sudomotor dysfunction" EXACT [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432] synonym: "Sweating dysfunction" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10002512 "Anhidrosis" xref: SNOMEDCT_US:14662005 xref: SNOMEDCT_US:39659002 xref: UMLS:C0003028 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0000971 name: Abnormal sweat gland morphology def: "Any structural abnormality of the sweat gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormalities of sweating" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the sweat gland" EXACT layperson [] synonym: "Sweat gland disease" RELATED layperson [] xref: SNOMEDCT_US:88232005 xref: UMLS:C0038986 xref: UMLS:C0262643 xref: UMLS:C4020881 is_a: HP:0011138 ! Abnormal skin adnexa morphology [Term] id: HP:0000972 name: Palmoplantar hyperkeratosis alt_id: HP:0007548 def: "Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot." [https://orcid.org/0000-0002-0736-9199] comment: The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. subset: hposlim_core synonym: "Hyperkeratosis of palms and soles" EXACT [] synonym: "Hyperkeratosis of the palms and soles" EXACT [] synonym: "Palmoplantar keratoses" EXACT [] synonym: "Palmoplantar keratosis" EXACT [] synonym: "Thick palms and soles" EXACT [] synonym: "Thickened palms and soles" EXACT [] synonym: "Thickening of the outer layer of the skin of the palms and soles" EXACT layperson [] xref: SNOMEDCT_US:706885006 xref: UMLS:C0022596 is_a: HP:0007556 ! Plantar hyperkeratosis is_a: HP:0010765 ! Palmar hyperkeratosis [Term] id: HP:0000973 name: Cutis laxa def: "Wrinkled, redundant, inelastic and sagging skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Chalazoderma" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849] synonym: "Cutaneous laxity" EXACT [] synonym: "Dermatochalasia" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849] synonym: "Dermatomegaly" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849] synonym: "Elastolysis" EXACT [] synonym: "Generalised elastolysis" EXACT uk_spelling [] synonym: "Generalized elastolysis" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849] synonym: "Hanging skin" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Hypoelastic skin" EXACT [] synonym: "Inelastic skin" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Lax skin" EXACT [] synonym: "Loose and inelastic skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Loose skin" EXACT [] synonym: "Skin laxity" EXACT [] xref: SNOMEDCT_US:58588007 xref: UMLS:C0010495 xref: UMLS:C2930812 xref: UMLS:C4280606 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000974 name: Hyperextensible skin alt_id: HP:0007389 alt_id: HP:0007493 alt_id: HP:0007578 def: "A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [https://orcid.org/0009-0006-4530-3154] comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. subset: hposlim_core synonym: "Hyperelastic skin" EXACT layperson [] synonym: "Skin hyperelasticity" EXACT layperson [] synonym: "Skin hyperextensibility" EXACT [] synonym: "Stretchable skin" EXACT layperson [] xref: UMLS:C0241074 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000975 name: Hyperhidrosis alt_id: HP:0001011 alt_id: HP:0001064 alt_id: HP:0007424 def: "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [https://orcid.org/0000-0002-0736-9199] comment: The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. subset: hposlim_core synonym: "Diaphoresis" EXACT [] synonym: "Excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased sweating" EXACT layperson [] synonym: "Profuse sweating" EXACT layperson [] synonym: "Sweating" EXACT layperson [] synonym: "Sweating profusely" EXACT layperson [] synonym: "Sweating, increased" EXACT layperson [] xref: MEDDRA:10020642 "Hyperhidrosis" xref: SNOMEDCT_US:161857006 xref: SNOMEDCT_US:312230002 xref: SNOMEDCT_US:364538006 xref: SNOMEDCT_US:415690000 xref: SNOMEDCT_US:415691001 xref: SNOMEDCT_US:52613005 xref: UMLS:C0020458 xref: UMLS:C0038990 xref: UMLS:C0700590 is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis [Term] id: HP:0000976 name: obsolete Eczematoid dermatitis is_obsolete: true replaced_by: HP:0000964 [Term] id: HP:0000977 name: Soft skin def: "Subjective impression of increased softness upon palpation of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Soft skin" EXACT layperson [] synonym: "Velvety skin" RELATED layperson [] synonym: "Velvety skin texture" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0241178 xref: UMLS:C1844592 is_a: HP:0010647 ! Abnormal elasticity of skin [Term] id: HP:0000978 name: Bruising susceptibility alt_id: HP:0000959 alt_id: HP:0007433 alt_id: HP:0007472 def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [https://orcid.org/0000-0002-0736-9199] comment: An ecchymosis is defined as being larger than 1 cm in size. synonym: "Bruisability" EXACT [] synonym: "Bruise easily" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Bruising susceptibility" EXACT layperson [] synonym: "Easy bruisability" EXACT layperson [] synonym: "Easy bruising" EXACT layperson [] xref: SNOMEDCT_US:302227002 xref: SNOMEDCT_US:424131007 xref: SNOMEDCT_US:425075004 xref: SNOMEDCT_US:77643000 xref: UMLS:C0013491 xref: UMLS:C0423798 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000979 name: Purpura def: "Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [https://orcid.org/0000-0002-0736-9199, PMID:11515831] comment: Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). subset: hposlim_core synonym: "Blood spots" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Red or purple spots on the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:12393003 xref: SNOMEDCT_US:387778001 xref: SNOMEDCT_US:423902002 xref: UMLS:C0034150 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000980 name: Pallor def: "Abnormally pale skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Paleness" RELATED layperson [] synonym: "Skin paleness" RELATED layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:398979000 xref: UMLS:C0030232 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0000982 name: Palmoplantar keratoderma def: "Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [https://orcid.org/0000-0002-0736-9199] synonym: "Keratoderma" EXACT [] synonym: "Palmar and plantar keratoderma" EXACT [] synonym: "Thickening of palms and soles" EXACT layperson [] xref: SNOMEDCT_US:706885006 xref: UMLS:C0022596 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0000987 name: Atypical scarring of skin def: "Atypically scarred skin ." [https://orcid.org/0009-0006-4530-3154] synonym: "Atypical scarring" EXACT layperson [] synonym: "Atypical scarring of skin" EXACT layperson [] xref: UMLS:C4021786 is_a: HP:0011355 ! Localized skin lesion is_a: HP:0100699 ! Scarring [Term] id: HP:0000988 name: Skin rash def: "A red eruption of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Rash" BROAD layperson [] synonym: "Skin rash" EXACT layperson [] xref: MEDDRA:10037844 "Rash" xref: SNOMEDCT_US:112625008 xref: SNOMEDCT_US:271807003 xref: UMLS:C0015230 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000989 name: Pruritus def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Itching" EXACT layperson [] synonym: "Itchy skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Skin itching" EXACT layperson [] xref: SNOMEDCT_US:279333002 xref: SNOMEDCT_US:418290006 xref: SNOMEDCT_US:418363000 xref: SNOMEDCT_US:424492005 xref: UMLS:C0033774 is_a: HP:0011122 ! Abnormality of skin physiology [Term] id: HP:0000991 name: Xanthomatosis def: "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Xanthomata" EXACT [] synonym: "Yellow bumps of fatty deposits on skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:63103006 xref: UMLS:C0043325 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000992 name: Cutaneous photosensitivity alt_id: HP:0005594 alt_id: HP:0006831 alt_id: HP:0007538 def: "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Photosensitive skin" EXACT layperson [] synonym: "Photosensitive skin rashes" EXACT layperson [] synonym: "Photosensitivity" EXACT layperson [] synonym: "Sensitivity to sunlight" EXACT layperson [] synonym: "Skin photosensitivity" EXACT layperson [] synonym: "Sun sensitivity" EXACT layperson [] xref: SNOMEDCT_US:90128006 xref: UMLS:C0349506 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000993 name: Molluscoid pseudotumors def: "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [https://orcid.org/0000-0002-0736-9199] synonym: "Molluscoid pseudotumor" EXACT [] xref: UMLS:C1844597 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000995 name: Melanocytic nevus def: "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger." [https://orcid.org/0000-0002-0736-9199] comment: Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. synonym: "Beauty mark" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Melanocytic naevus" EXACT [] synonym: "Melanocytic nevi" EXACT [] synonym: "Nevocellular nevi" EXACT [] synonym: "Noncancerous mole" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pigmented naevi" EXACT [] synonym: "Pigmented nevi" EXACT [] xref: SNOMEDCT_US:21119008 xref: SNOMEDCT_US:400096001 xref: UMLS:C0027962 xref: UMLS:C4280269 is_a: HP:0001000 ! Abnormality of skin pigmentation is_a: HP:0003764 ! Nevus [Term] id: HP:0000996 name: Facial capillary hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face." [] xref: UMLS:C1858545 is_a: HP:0000329 ! Facial hemangioma is_a: HP:0005306 ! Capillary hemangioma [Term] id: HP:0000997 name: Axillary freckling def: "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [PMID:12186179] subset: hposlim_core xref: UMLS:C1860335 is_a: HP:0001480 ! Freckling [Term] id: HP:0000998 name: Hypertrichosis def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive hair growth" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased hair growth on body" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:271607001 xref: SNOMEDCT_US:29966009 xref: UMLS:C0020555 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0000999 name: Pyoderma def: "Any manifestation of a skin disease associated with the production of pus." [https://orcid.org/0000-0002-0736-9199] comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. synonym: "Pus-filled lesion" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:70759006 xref: UMLS:C0034212 is_a: HP:0005406 ! Recurrent bacterial skin infections [Term] id: HP:0001000 name: Abnormality of skin pigmentation alt_id: HP:0007582 alt_id: HP:0200045 def: "An abnormality of the pigmentation of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal pigmentation" EXACT layperson [] synonym: "Abnormal skin color" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormal skin colour" EXACT uk_spelling [] synonym: "Abnormal skin pigmentation" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of pigmentation" EXACT layperson [] synonym: "Abnormality of skin pigmentation" EXACT layperson [] synonym: "Pigmentary changes" EXACT layperson [] synonym: "Pigmentary skin changes" EXACT layperson [] synonym: "Pigmentation anomaly" EXACT layperson [] xref: UMLS:C1260926 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001001 name: Abnormality of subcutaneous fat tissue synonym: "Abnormality of fatty tissue below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025813 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001002 name: obsolete Decreased subcutaneous fat is_obsolete: true replaced_by: HP:0003758 [Term] id: HP:0001003 name: Multiple lentigines def: "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots." [https://orcid.org/0000-0002-0736-9199] comment: Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands. subset: hposlim_core synonym: "Liver spots" NARROW layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:72100002 xref: UMLS:C0036651 xref: UMLS:C1328931 is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0001004 name: Lymphedema alt_id: HP:0003605 def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system." [https://orcid.org/0009-0006-4530-3154] synonym: "Lymphatic obstruction" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Lymphoedema" EXACT [] synonym: "Onset of lymphedema around puberty" EXACT [] synonym: "Swelling caused by excess lymph fluid under skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:234097001 xref: SNOMEDCT_US:30213001 xref: UMLS:C0024236 xref: UMLS:C0240278 xref: UMLS:C1835229 is_a: HP:0000969 ! Edema [Term] id: HP:0001005 name: Dermatological manifestations of systemic disorders subset: secondary_consequence xref: UMLS:C4025812 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001006 name: obsolete Hypotrichosis is_obsolete: true replaced_by: HP:0008070 [Term] id: HP:0001007 name: Hirsutism def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [https://orcid.org/0009-0006-4530-3154] synonym: "Excessive hairiness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:399939002 xref: UMLS:C0019572 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001008 name: Accumulation of melanosomes in melanocytes xref: UMLS:C1843389 is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0001009 name: Telangiectasia alt_id: HP:0001079 def: "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [https://orcid.org/0000-0002-0736-9199] synonym: "Spider veins" RELATED layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Telangiectases" EXACT [] xref: SNOMEDCT_US:112641009 xref: SNOMEDCT_US:247479008 xref: UMLS:C0039446 xref: UMLS:C1138421 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001010 name: Hypopigmentation of the skin alt_id: HP:0005589 alt_id: HP:0007604 alt_id: HP:0007622 def: "A reduction of skin color related to a decrease in melanin production and deposition." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypopigmentation" EXACT [] synonym: "Hypopigmented skin" EXACT [] synonym: "Patchy lightened skin" EXACT layperson [] synonym: "Skin hypopigmentation" RELATED [] xref: SNOMEDCT_US:18655006 xref: SNOMEDCT_US:201284005 xref: SNOMEDCT_US:23006000 xref: SNOMEDCT_US:89031001 xref: UMLS:C0162835 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001011 name: obsolete Diaphoresis (with pheochromocytoma) is_obsolete: true replaced_by: HP:0000975 [Term] id: HP:0001012 name: Multiple lipomas def: "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [https://orcid.org/0009-0006-4530-3154] comment: A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. synonym: "Lipomas" RELATED [] synonym: "Lipomatosis" RELATED [] synonym: "Multiple fatty lumps" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: NCIT:C3192 xref: SNOMEDCT_US:404062002 xref: SNOMEDCT_US:46720004 xref: SNOMEDCT_US:93163002 xref: UMLS:C0023798 xref: UMLS:C0745730 is_a: HP:0012031 ! Lipomatous tumor [Term] id: HP:0001013 name: Eruptive xanthomas def: "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur." [PMID:12165227, PMID:22375975] comment: Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. xref: SNOMEDCT_US:238952003 xref: UMLS:C0221252 is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001014 name: Angiokeratoma def: "Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot." [https://orcid.org/0000-0002-0736-9199, PMID:8993949] comment: Angiokeratomas occur clinically as 1 of 5 different subtypes. synonym: "Angiokeratomas" EXACT [] xref: SNOMEDCT_US:26810009 xref: UMLS:C0002985 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001015 name: Prominent superficial veins def: "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal." [] comment: See Figure 4 of PMID:24456199 synonym: "Marked subcutaneous veins" EXACT [] synonym: "Prominent veins" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1837785 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:0007394 ! Prominent superficial blood vessels [Term] id: HP:0001017 name: Anemic pallor def: "A type of pallor that is secondary to the presence of anemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Anaemic pallor" EXACT uk_spelling [] xref: UMLS:C4025811 is_a: HP:0000980 ! Pallor [Term] id: HP:0001018 name: Abnormal palmar dermatoglyphics def: "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025810 is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0040211 ! Abnormal skin morphology of the palm [Term] id: HP:0001019 name: Erythroderma def: "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [https://orcid.org/0000-0002-0736-9199, PMID:11606915, PMID:25710899, PMID:25882661, PMID:32555205, PMID:35238435] comment: Erythroderma can occur at any age. Erythroderma with a congenital or neonatal onset has a different differential diagnosis than adult-onset erythroderma. Several skin disorders may culminate with erythroderma: seborrheic dermatitis/sarcoidosis; contact (allergic or irritant) dermatitis (eg, stasis dermatitis with generalization); atopic dermatitis/autoimmune disease (systemic lupus/dermatomyositis/bullous pemphigoid/pemphigus foliaceus/lichen planus/graft-versus-host disease); lymphoma/leukemia (including Sézary syndrome); psoriasis, including Reiter syndrome/pityriasis rubra pilaris (PRP); infections (human immunodeficiency virus, dermatophytosis), ichthyoses, infestations (Norwegian scabies); drug reactions. Some cases are also associated with erosions (loss of epidermis with an epidermal base), crusting (serous, sanguineous, or pustular), and the potential for hair and nail changes. Exfoliative dermatitis and erythroderma (the preferred term) have been used synonymously in the literature. synonym: "Exfoliative dermititis" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Generalised erythroderma" EXACT uk_spelling [] synonym: "Generalised erythrodermia" EXACT uk_spelling [] synonym: "Generalized erythroderma" EXACT [] synonym: "Generalized erythrodermia" EXACT [] synonym: "Red scaly skin caused by inflammatory skin disease" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:200948000 xref: SNOMEDCT_US:396349005 xref: SNOMEDCT_US:396350005 xref: SNOMEDCT_US:399992009 xref: SNOMEDCT_US:400005007 xref: UMLS:C0011606 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001022 name: Albinism def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [https://orcid.org/0009-0006-4530-3154] synonym: "Achromasia" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Albinism" EXACT layperson [] xref: SNOMEDCT_US:15890002 xref: SNOMEDCT_US:18064000 xref: UMLS:C0001916 xref: UMLS:C0333913 is_a: HP:0005599 ! Hypopigmentation of hair is_a: HP:0007513 ! Generalized hypopigmentation [Term] id: HP:0001024 name: Skin dimple over apex of long bone angulation xref: UMLS:C1855815 is_a: HP:0010781 ! Skin dimple [Term] id: HP:0001025 name: Urticaria def: "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hives" EXACT layperson [] xref: MEDDRA:10046735 "Urticaria" xref: SNOMEDCT_US:126485001 xref: SNOMEDCT_US:247472004 xref: SNOMEDCT_US:64305001 xref: UMLS:C0042109 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001026 name: Penetrating foot ulcers synonym: "Penetrating foot ulcers" EXACT layperson [] xref: UMLS:C4025809 is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001027 name: Soft, doughy skin def: "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough." [] synonym: "Soft, doughy skin" EXACT layperson [] xref: UMLS:C1849043 is_a: HP:0000977 ! Soft skin [Term] id: HP:0001028 name: Hemangioma alt_id: HP:0007444 def: "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [https://orcid.org/0000-0002-0736-9199] synonym: "Hemangiomata" RELATED [] synonym: "Strawberry mark" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: NCIT:C3085 xref: SNOMEDCT_US:2099007 xref: SNOMEDCT_US:253053003 xref: SNOMEDCT_US:400210000 xref: UMLS:C0018916 is_a: HP:0100742 ! Vascular neoplasm [Term] id: HP:0001029 name: Poikiloderma def: "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias." [https://orcid.org/0000-0002-0736-9199, PMID:32363096] comment: Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. See Figure 2 of PMID:32363096. subset: hposlim_core xref: MEDDRA:10057041 "Poikiloderma" xref: SNOMEDCT_US:402685001 xref: SNOMEDCT_US:70114006 xref: UMLS:C0392777 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001030 name: Fragile skin def: "Skin that splits easily with minimal injury." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Fragile skin" EXACT layperson [] synonym: "Skin fragility" EXACT layperson [] xref: MEDDRA:10040851 "Skin fragility" xref: SNOMEDCT_US:247427007 xref: UMLS:C0241181 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001031 name: Subcutaneous lipoma def: "The presence of subcutaneous lipoma." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3192 xref: UMLS:C1403035 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0001012 ! Multiple lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0001032 name: Absent distal interphalangeal creases def: "Absence of the distal interphalangeal flexion creases of the fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of skin creases over distal interphalangeal joints" EXACT [] synonym: "Aplasia of the distal interphalangeal creases" EXACT [] synonym: "Distal finger flexion creases absent" EXACT [] xref: UMLS:C1861349 is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0001033 name: Facial flushing after alcohol intake subset: secondary_consequence synonym: "Facial flushing after alcohol intake" EXACT layperson [] xref: UMLS:C4025808 is_a: HP:0031284 ! Flushing [Term] id: HP:0001034 name: Hypermelanotic macule alt_id: HP:0007442 alt_id: HP:0007491 alt_id: HP:0007492 alt_id: HP:0100815 alt_id: HP:0200031 alt_id: HP:0200033 def: "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [https://orcid.org/0000-0003-1773-4011] synonym: "Hyperpigmented macules" EXACT [] synonym: "Hyperpigmented skin patches" RELATED layperson [] synonym: "Hyperpigmented spots" EXACT layperson [] xref: UMLS:C1842774 is_a: HP:0007400 ! Irregular hyperpigmentation is_a: HP:0012733 ! Macule [Term] id: HP:0001036 name: Parakeratosis def: "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes." [https://orcid.org/0000-0002-0736-9199] comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis. xref: SNOMEDCT_US:200766001 xref: SNOMEDCT_US:65068000 xref: UMLS:C0030436 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0001038 name: Warfarin-induced skin necrosis subset: secondary_consequence xref: UMLS:C1867638 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001039 name: Atheroeruptive xanthoma xref: UMLS:C4025807 is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001040 name: Multiple pterygia xref: UMLS:C1867448 is_a: HP:0001059 ! Pterygium [Term] id: HP:0001041 name: Facial erythema alt_id: HP:0001068 def: "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Blushed cheeks" EXACT layperson [] synonym: "Blushing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Red face" EXACT layperson [] synonym: "Red in the face" EXACT layperson [] synonym: "Rosacea" NARROW layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Ruddy face" RELATED layperson [] xref: SNOMEDCT_US:20255002 xref: SNOMEDCT_US:271811009 xref: SNOMEDCT_US:398909004 xref: UMLS:C0005874 xref: UMLS:C0035854 xref: UMLS:C0239488 xref: UMLS:C4020880 is_a: HP:0010783 ! Erythema [Term] id: HP:0001042 name: High axial triradius xref: UMLS:C4025806 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0001043 name: Prominent scalp veins synonym: "Prominent scalp veins" EXACT layperson [] xref: UMLS:C1856542 is_a: HP:0001015 ! Prominent superficial veins is_a: HP:0001965 ! Abnormal scalp morphology is_a: HP:3000036 ! Abnormal head blood vessel morphology [Term] id: HP:0001045 name: Vitiligo synonym: "Blotchy loss of skin color" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Blotchy loss of skin colour" EXACT uk_spelling [] xref: SNOMEDCT_US:56727007 xref: UMLS:C0042900 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001046 name: Intermittent jaundice def: "Jaundice that is sometimes present, sometimes not." [https://orcid.org/0000-0002-0736-9199] subset: secondary_consequence synonym: "Intermittent icterus" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Intermittent yellow skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Intermittent yellowing of skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025805 is_a: HP:0000952 ! Jaundice [Term] id: HP:0001047 name: Atopic dermatitis alt_id: HP:0007533 alt_id: HP:0007564 def: "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage." [https://orcid.org/0000-0002-0736-9199, PMID:27904186] comment: In infants, atopic dermatitis is known as infantile eczema. synonym: "Allergic eczema" EXACT [] synonym: "Atopic dermatitis, chronic" EXACT [] synonym: "Atopic eczema" EXACT [] synonym: "Baby eczema" RELATED layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Dermatitis, Atopic" EXACT [] synonym: "Infantile eczema" EXACT [] synonym: "Neurodermatitis" EXACT [] synonym: "Prurigo Besnier" EXACT [] xref: SNOMEDCT_US:200775004 xref: SNOMEDCT_US:24079001 xref: UMLS:C0011615 xref: UMLS:C4280605 is_a: HP:0000964 ! Eczematoid dermatitis [Term] id: HP:0001048 name: Cavernous hemangioma def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cavernous angioma" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Cavernous haemangioma" EXACT [] synonym: "Collection of dilated blood vessels that forms mass" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10055899 "Haemangioma cavernous" xref: NCIT:C3086 xref: SNOMEDCT_US:33377007 xref: SNOMEDCT_US:416824008 xref: SNOMEDCT_US:56975005 xref: UMLS:C0018920 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001049 name: Absent dorsal skin creases over affected joints xref: UMLS:C1861400 is_a: HP:0006143 ! Abnormal finger flexion crease [Term] id: HP:0001050 name: Plethora comment: Related to polycythemia. xref: SNOMEDCT_US:75246004 xref: UMLS:C0232370 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001051 name: Seborrheic dermatitis alt_id: HP:0007562 def: "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [https://orcid.org/0000-0002-0736-9199] comment: Dandruff. synonym: "Dysseborrheic dermatitis" RELATED [] synonym: "Seborrhea" EXACT [] synonym: "Seborrheic eczema" EXACT [] xref: SNOMEDCT_US:50563003 xref: SNOMEDCT_US:86708008 xref: UMLS:C0036508 xref: UMLS:C3806554 is_a: HP:0000964 ! Eczematoid dermatitis [Term] id: HP:0001052 name: Nevus flammeus def: "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [https://orcid.org/0009-0006-4530-3154, PMID:22483320] comment: Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions. subset: hposlim_core synonym: "Nevus simplex" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "port-wine stain" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: MEDDRA:10067193 "Naevus flammeus" xref: SNOMEDCT_US:254211001 xref: SNOMEDCT_US:416377005 xref: UMLS:C0235752 is_a: HP:0003764 ! Nevus is_a: HP:0025104 ! Capillary malformation [Term] id: HP:0001053 name: Hypopigmented skin patches synonym: "Patchy loss of skin color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Patchy loss of skin colour" EXACT uk_spelling [] xref: UMLS:C1836735 is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001054 name: Numerous nevi synonym: "Multiple pigmented nevi" EXACT [] synonym: "Numerous moles" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1849677 is_a: HP:0003764 ! Nevus [Term] id: HP:0001055 name: Erysipelas def: "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "St. Anthony's Fire" RELATED [] xref: MEDDRA:10015145 "Erysipelas" xref: SNOMEDCT_US:44653001 xref: SNOMEDCT_US:51510002 xref: UMLS:C0014714 xref: UMLS:C0014733 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001056 name: Milia def: "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin." [https://orcid.org/0000-0002-0736-9199] comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. subset: hposlim_core synonym: "Milk spot" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Millium cyst" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:254679001 xref: SNOMEDCT_US:254683001 xref: SNOMEDCT_US:37719003 xref: UMLS:C0345996 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001057 name: Aplasia cutis congenita def: "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absence of part of skin at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Congenital absence of skin" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432] synonym: "Congenital scars" BROAD [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432] synonym: "Cutis aplasia" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10002963 "Aplasia cutis congenita" xref: SNOMEDCT_US:254237003 xref: SNOMEDCT_US:35484002 xref: SNOMEDCT_US:74223008 xref: UMLS:C0265989 xref: UMLS:C0282160 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0001058 name: Poor wound healing def: "A reduced ability to heal cutaneous wounds." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Poor wound healing" EXACT layperson [] xref: UMLS:C1851789 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001059 name: Pterygium def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Pterygia" EXACT plural_form [] xref: SNOMEDCT_US:77489003 xref: UMLS:C0033999 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0011356 ! Regional abnormality of skin [Term] id: HP:0001060 name: Axillary pterygium def: "Presence of a cutaneous membrane (flap) in the armpit." [] synonym: "Axillary pterygia" EXACT plural_form [] xref: UMLS:C1844738 is_a: HP:0001059 ! Pterygium [Term] id: HP:0001061 name: Acne alt_id: HP:0005596 def: "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)." [https://orcid.org/0000-0002-0736-9199] comment: Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule. subset: hposlim_core synonym: "Acne" EXACT layperson [] synonym: "Breaking out" BROAD layperson [] xref: MEDDRA:10000496 "Acne" xref: SNOMEDCT_US:11381005 xref: UMLS:C0702166 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001062 name: Atypical nevus def: "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink." [https://orcid.org/0000-0002-0736-9199] comment: Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance. synonym: "Atypical mole" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Dysplastic Nevus" RELATED [] xref: SNOMEDCT_US:254818000 xref: SNOMEDCT_US:61814002 xref: UMLS:C0205748 is_a: HP:0003764 ! Nevus [Term] id: HP:0001063 name: Acrocyanosis def: "Bluish discoloration of the skin of the hands or feet." [PMID:32644593] comment: Cyanosis is caused by increased levels of deoxygenated hemoglobin. synonym: "Persistent blue color of hands or feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Persistent blue colour of hands or feet" EXACT uk_spelling [] xref: SNOMEDCT_US:25003006 xref: UMLS:C0221347 is_a: HP:0034033 ! Peripheral cyanosis [Term] id: HP:0001065 name: Striae distensae alt_id: HP:0001023 alt_id: HP:0001066 alt_id: HP:0100680 def: "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Purplish striae" EXACT [] synonym: "Stretch marks" EXACT layperson [] synonym: "Striae" EXACT [] synonym: "Striae atrophicae" EXACT [] synonym: "Striae cutis distensae" EXACT [] xref: MEDDRA:10040925 "Skin striae" xref: SNOMEDCT_US:201066002 xref: SNOMEDCT_US:201067006 xref: SNOMEDCT_US:47212006 xref: UMLS:C0152459 is_a: HP:0004334 ! Dermal atrophy is_a: HP:0100679 ! Lack of skin elasticity [Term] id: HP:0001067 name: Neurofibroma alt_id: HP:0006746 alt_id: HP:0007386 alt_id: HP:0007612 alt_id: HP:0009595 def: "A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas." [https://orcid.org/0000-0002-0736-9199, PMID:30969529] synonym: "multiple neurofibromas" RELATED [] synonym: "Neurofibromata" EXACT [] synonym: "Neurofibromatosis" EXACT [] xref: NCIT:C3272 xref: SNOMEDCT_US:19133005 xref: SNOMEDCT_US:81669005 xref: UMLS:C0162678 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010614 ! Fibroma is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0001069 name: Episodic hyperhidrosis def: "Intermittent episodes of abnormally increased perspiration." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperhidrosis, episodic" EXACT [] synonym: "Sporadic excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1857171 is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0001070 name: Mottled pigmentation alt_id: HP:0007584 def: "Patchy and irregular skin pigmentation." [https://orcid.org/0000-0002-0736-9199] synonym: "Mottled skin coloring" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Mottled skin colouring" EXACT uk_spelling [] synonym: "Stippled pigmentation" RELATED [] xref: UMLS:C0860439 xref: UMLS:C4020879 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum def: "Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation." [] comment: Angiokeratoma corporis diffusum (ACD) commonly occurs in Fabry disease and the term ACD was previously used synonymously with Fabry disease (OMIM:301500). However, ACD can also occur with other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis, and Kanzaki disease. synonym: "Fabry syndrome" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:124464003 xref: SNOMEDCT_US:16652001 xref: UMLS:C0002986 is_a: HP:0001014 ! Angiokeratoma [Term] id: HP:0001072 name: Thickened skin alt_id: HP:0007393 def: "Laminar thickening of skin." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Diffusely thickened skin" RELATED layperson [] synonym: "Pachydermia" EXACT [] synonym: "Thick skin" EXACT layperson [] synonym: "Thickened skin" EXACT layperson [] xref: MEDDRA:10040936 "Skin thickening" xref: SNOMEDCT_US:17417006 xref: SNOMEDCT_US:69943009 xref: UMLS:C0334008 xref: UMLS:C4020878 is_a: HP:0011121 ! Abnormal skin morphology [Term] id: HP:0001073 name: Cigarette-paper scars def: "Thin (atrophic) and wide scars." [https://orcid.org/0000-0002-0736-9199] comment: Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows. subset: hposlim_core synonym: "Cigarette paper scarring" EXACT layperson [] synonym: "Cigarette-paper scars" EXACT layperson [] xref: UMLS:C1851828 is_a: HP:0001075 ! Atrophic scars [Term] id: HP:0001074 name: Atypical nevi in non-sun exposed areas xref: UMLS:C4021837 is_a: HP:0003764 ! Nevus [Term] id: HP:0001075 name: Atrophic scars alt_id: HP:0007567 def: "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Sunken or indented skin due to damage" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Thin, atrophic scars" EXACT [] xref: SNOMEDCT_US:239172000 xref: SNOMEDCT_US:409766009 xref: UMLS:C0162154 is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0001076 name: Glabellar hemangioma synonym: "Glabellar capillary hemangioma" EXACT [] xref: UMLS:C1854408 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001080 name: Biliary tract abnormality def: "An abnormality of the biliary tree." [https://orcid.org/0000-0002-0736-9199] synonym: "Biliary tract disease" RELATED [] xref: SNOMEDCT_US:105997008 xref: UMLS:C0005424 xref: UMLS:C0549613 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001081 name: Cholelithiasis def: "Hard, pebble-like deposits that form within the gallbladder." [https://orcid.org/0000-0002-0736-9199] comment: Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones. synonym: "Gallstones" EXACT layperson [] xref: SNOMEDCT_US:266474003 xref: UMLS:C0008350 is_a: HP:0012437 ! Abnormal gallbladder morphology [Term] id: HP:0001082 name: Cholecystitis def: "The presence of inflammatory changes in the gallbladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Gallbladder inflammation" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:76581006 xref: UMLS:C0008325 is_a: HP:0012438 ! Abnormal gallbladder physiology [Term] id: HP:0001083 name: Ectopia lentis alt_id: HP:0000665 alt_id: HP:0007637 alt_id: HP:0007882 alt_id: HP:0008016 def: "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of lens position" EXACT [] synonym: "Lens dislocation" EXACT [] xref: SNOMEDCT_US:74969002 xref: UMLS:C0013581 xref: UMLS:C0023309 is_a: HP:0000517 ! Abnormal lens morphology [Term] id: HP:0001084 name: Corneal arcus alt_id: HP:0100741 def: "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [https://orcid.org/0000-0002-0736-9199] comment: A gray opaque line which surrounds the margin of the cornea caused by lipid deposits. synonym: "Anterior embryotoxon" EXACT [] synonym: "Arcus juvenilis" RELATED [] synonym: "Arcus lipoidis" EXACT [] synonym: "Arcus senilis" EXACT [] synonym: "Corneal annulus" EXACT [] synonym: "Gerontoxon" EXACT [] xref: SNOMEDCT_US:111522004 xref: SNOMEDCT_US:231924000 xref: SNOMEDCT_US:231925004 xref: UMLS:C0003742 xref: UMLS:C0339268 is_a: HP:0008011 ! Peripheral opacification of the cornea [Term] id: HP:0001085 name: Papilledema alt_id: HP:0001130 def: "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [https://orcid.org/0000-0002-0736-9199] comment: The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc. subset: hposlim_core synonym: "Papillitis" RELATED [] xref: SNOMEDCT_US:248487006 xref: SNOMEDCT_US:423341008 xref: SNOMEDCT_US:73221001 xref: UMLS:C0030353 is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0001087 name: Developmental glaucoma def: "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma." [] synonym: "Childhood glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Infantile glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Paediatric glaucoma" EXACT uk_spelling [] synonym: "Pediatric glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:204113001 xref: SNOMEDCT_US:413728006 xref: UMLS:C0020302 is_a: HP:0000501 ! Glaucoma is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0001088 name: Brushfield spots def: "The presence of whitish spots in a ring-like arrangement at the periphery of the iris." [https://orcid.org/0000-0002-0736-9199] comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). subset: hposlim_core synonym: "Iris brushfield spots" EXACT [] synonym: "Speckled iris" RELATED layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:400960002 xref: UMLS:C1303007 xref: UMLS:C4280604 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001089 name: Iris atrophy def: "Loss of iris tissue (atrophy)" [https://orcid.org/0000-0002-0736-9199] synonym: "Iris degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95709007 xref: UMLS:C0423319 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0001090 name: Abnormally large globe alt_id: HP:0200093 def: "Diffusely large eye (with megalocornea) without glaucoma." [https://orcid.org/0000-0002-0736-9199] comment: Note that Increased size of palpebral fissues is not a synonym of this term. synonym: "Increased size of eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of palpebral fissures" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Large eyeballs" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large eyes" EXACT layperson [] synonym: "Large of palpebral fissures" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Megalophthalmos" EXACT [] xref: SNOMEDCT_US:246920008 xref: UMLS:C0423221 xref: UMLS:C1855852 xref: UMLS:C4280603 is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0001092 name: Absent lacrimal punctum alt_id: HP:0007977 def: "No identifiable superior and/or inferior lacrimal punctum." [PMID:19125427] comment: The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. subset: hposlim_core synonym: "Absent lacrimal gland puncta" EXACT [] synonym: "Absent lacrimal openings" EXACT [] synonym: "Absent lacrimal puncta" EXACT [] synonym: "Agenesis of the lacrimal punctum" RELATED [] synonym: "Aplasia of lacrimal puncta" EXACT [] synonym: "Lacrimal puncta aplasia" EXACT [] synonym: "Lacrimal punctum, absence" EXACT [] xref: SNOMEDCT_US:204208005 xref: SNOMEDCT_US:253217007 xref: UMLS:C0344509 xref: UMLS:C1867060 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology [Term] id: HP:0001093 name: Optic nerve dysplasia def: "The presence of developmental dysplasia of the optic nerve." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2676026 is_a: HP:0000587 ! Abnormal optic nerve morphology [Term] id: HP:0001094 name: Iridocyclitis def: "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:77971008 xref: UMLS:C0022073 is_a: HP:0012122 ! Anterior uveitis [Term] id: HP:0001095 name: Hypertensive retinopathy subset: secondary_consequence xref: SNOMEDCT_US:6962006 xref: UMLS:C0152132 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0001096 name: Keratoconjunctivitis def: "Inflammation of the cornea and conjunctiva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:88151007 xref: UMLS:C0022573 is_a: HP:0000491 ! Keratitis is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0001097 name: Keratoconjunctivitis sicca def: "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Dry eye syndrome" RELATED layperson [] synonym: "Dry eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Keratitis sicca" EXACT [] synonym: "Xerophthalmia" EXACT [] xref: SNOMEDCT_US:302896008 xref: SNOMEDCT_US:363677007 xref: SNOMEDCT_US:46152009 xref: UMLS:C0013238 xref: UMLS:C0022575 xref: UMLS:C0043349 xref: UMLS:C2930821 is_a: HP:0001096 ! Keratoconjunctivitis [Term] id: HP:0001098 name: Abnormal fundus morphology def: "Any structural abnormality of the fundus of the eye." [] synonym: "Abnormality of the fundus" EXACT [] xref: UMLS:C4025804 is_a: HP:0004329 ! Abnormal posterior eye segment morphology [Term] id: HP:0001099 name: Fundus atrophy xref: UMLS:C2673929 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0001100 name: Heterochromia iridis def: "Heterochromia iridis is a difference in the color of the iris in the two eyes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Different colored eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Different coloured eyes" EXACT uk_spelling [] synonym: "Heterochromia irides" EXACT [] xref: SNOMEDCT_US:247033008 xref: UMLS:C0423318 is_a: HP:0200064 ! Asymmetry of iris pigmentation [Term] id: HP:0001101 name: Iritis def: "Inflammation of the iris." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:65074000 xref: UMLS:C0022081 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0001102 name: Angioid streaks of the fundus def: "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:30844178] comment: Angioid streaks result from breaks in a weakened Bruch's membrane. synonym: "Angioid streaks" EXACT [] synonym: "Angioid streaks of the retina" EXACT [] synonym: "Angioid streaks, retina" EXACT [] synonym: "Knapp streaks" EXACT [] synonym: "Laquer cracks of the retina" EXACT [] xref: UMLS:C0002982 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0001103 name: Abnormal macular morphology def: "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:16255686] comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimeters in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. subset: hposlim_core synonym: "Abnormality of the macula" EXACT [] synonym: "Macula abnormality" EXACT [] synonym: "Macular abnormality" EXACT [] xref: SNOMEDCT_US:312999006 xref: UMLS:C0730362 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0001104 name: Macular hypoplasia def: "Underdevelopment of the macula lutea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1849412 is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula [Term] id: HP:0001105 name: Retinal atrophy def: "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [https://orcid.org/0000-0003-0986-4123] xref: SNOMEDCT_US:405722004 xref: SNOMEDCT_US:95695004 xref: UMLS:C0035304 xref: UMLS:C0521694 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0001106 name: Periorbital hyperpigmentation def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Dark circles around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dark circles under the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Darkening around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Idiopathic cutaneous hyperchromia at the orbital region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Infraorbital pigmentation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Periorbital melanosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pigmentation around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844606 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001107 name: Ocular albinism alt_id: HP:0007745 alt_id: HP:0007837 def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina." [https://orcid.org/0000-0002-0736-9199] comment: Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. synonym: "Absent pigmentation in the eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Albinism, Ocular" EXACT [] xref: SNOMEDCT_US:26399002 xref: UMLS:C0078917 is_a: HP:0001098 ! Abnormal fundus morphology is_a: HP:0007730 ! Iris hypopigmentation [Term] id: HP:0001112 name: Leber optic atrophy alt_id: HP:0001086 def: "Degeneration of retinal ganglion cells and their axons." [https://orcid.org/0000-0002-0736-9199] synonym: "Leber optic atrophy features" EXACT [] synonym: "Leber optic degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:58610003 xref: UMLS:C0917796 is_a: HP:0000587 ! Abnormal optic nerve morphology [Term] id: HP:0001113 name: obsolete Early cataracts is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0001114 name: Xanthelasma def: "The presence of xanthomata in the skin of the eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Fatty deposits in skin around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fatty deposits on eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthelasma of eyelid" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthelasma of periocular region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthelasma palpebrarum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthoma" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthoma of eyelid" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthoma of periocular region" NARROW [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:63103006 xref: SNOMEDCT_US:6400008 xref: SNOMEDCT_US:75594004 xref: UMLS:C0155210 xref: UMLS:C0302314 xref: UMLS:C4280601 xref: UMLS:C4280602 is_a: HP:0000991 ! Xanthomatosis is_a: HP:0010732 ! Nodular changes affecting the eyelids [Term] id: HP:0001115 name: Posterior polar cataract def: "A polar cataract that affects the posterior pole of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Polar cataract, posterior" EXACT [] xref: UMLS:C1850191 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001116 name: Macular coloboma def: "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented." [https://orcid.org/0000-0001-8727-6592, PMID:15069441] synonym: "Coloboma of the macula" EXACT [] xref: UMLS:C1852767 is_a: HP:0000480 ! Retinal coloboma is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0001117 name: Sudden loss of visual acuity def: "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy." [https://orcid.org/0000-0002-0736-9199] synonym: "Sudden central visual loss" RELATED [] synonym: "Sudden decrease in vision" BROAD layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025803 xref: UMLS:C4072828 xref: UMLS:C4280600 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0001118 name: Juvenile cataract def: "A type of cataract that is not apparent at birth but that arises in childhood or adolescence." [https://orcid.org/0000-0002-0736-9199] comment: Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral). xref: SNOMEDCT_US:399336001 xref: UMLS:C0302254 is_a: HP:0000518 ! Cataract [Term] id: HP:0001119 name: Keratoglobus def: "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [PMID:19667340] subset: hposlim_core xref: UMLS:C3887531 is_a: HP:0007700 ! Ocular anterior segment dysgenesis is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0001120 name: Abnormality of corneal size def: "Any abnormality of the size or morphology of the cornea." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025802 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0001122 name: obsolete Aplasia/Hypoplasia of the choroid is_obsolete: true consider: HP:0000610 [Term] id: HP:0001123 name: Visual field defect synonym: "Partial loss of field of vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Visual field defects" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:12184005 xref: UMLS:C3887875 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0001125 name: Transient unilateral blurring of vision alt_id: HP:0000583 def: "Transient blurring of vision associated with the aura phase of migraine." [https://orcid.org/0000-0002-0736-9199] comment: The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens. synonym: "Hemianopic blurring" RELATED [] synonym: "Hemianoptic blurring of vision" EXACT [] synonym: "Transient unilateral blurred vision" EXACT [] xref: UMLS:C1865332 is_a: HP:0000622 ! Blurred vision [Term] id: HP:0001126 name: Cryptophthalmos alt_id: HP:0008032 def: "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [https://orcid.org/0000-0002-0736-9199, PMID:19125427] comment: Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin. subset: hposlim_core xref: SNOMEDCT_US:400951005 xref: UMLS:C0311249 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid [Term] id: HP:0001128 name: Trichiasis def: "Inversion and rubbing of the eyelashes against the globe of the eye." [https://orcid.org/0000-0002-0736-9199] comment: Eyelash inversion. synonym: "Ingrown eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Introversion of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Trichiasis of eyelid eyelashes" EXACT [] xref: SNOMEDCT_US:60332004 xref: UMLS:C0221259 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0001129 name: Large central visual field defect synonym: "Large central loss of field of vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025800 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001131 name: Corneal dystrophy alt_id: HP:0007775 alt_id: HP:0008005 def: "The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:5587004 xref: UMLS:C0010036 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0001132 name: Lens subluxation def: "Partial dislocation of the lens of the eye." [https://orcid.org/0000-0002-0736-9199] comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). synonym: "Partially dislocated lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:65814009 xref: UMLS:C0023316 is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0001133 name: Constriction of peripheral visual field alt_id: HP:0007887 alt_id: HP:0007981 def: "An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye." [https://orcid.org/0000-0003-0986-4123] synonym: "Concentric narrowing of visual field" EXACT [] synonym: "Constricted visual field" EXACT [] synonym: "Constricted visual fields" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Limited peripheral vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Reduced peripheral vision" EXACT [] synonym: "Visual field constriction" EXACT [] xref: SNOMEDCT_US:1151008 xref: SNOMEDCT_US:267628004 xref: UMLS:C0235095 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001134 name: Anterior polar cataract def: "A polar cataract that affects the anterior pole of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Polar cataract, anterior" EXACT [] xref: UMLS:C1855179 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001135 name: Chorioretinal dystrophy alt_id: HP:0007712 alt_id: HP:0007920 xref: UMLS:C1857627 is_a: HP:0000532 ! Abnormal chorioretinal morphology is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0001136 name: Retinal arteriolar tortuosity def: "The presence of an increased number of twists and turns of the retinal arterioles." [https://orcid.org/0000-0002-0736-9199] synonym: "Tortuous retinal arterioles" EXACT [] xref: UMLS:C1843517 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0001137 name: Alternating esotropia def: "Esotropia in which either eye may be used for fixation." [https://orcid.org/0000-0003-0986-4123] comment: Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time). synonym: "Alternating cross eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:39837002 xref: UMLS:C0152205 is_a: HP:0000565 ! Esotropia [Term] id: HP:0001138 name: Optic neuropathy alt_id: HP:0007806 synonym: "Damaged optic nerve" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:82108004 xref: UMLS:C3887709 is_a: HP:0000587 ! Abnormal optic nerve morphology [Term] id: HP:0001139 name: Choroideremia xref: SNOMEDCT_US:75241009 xref: UMLS:C0008525 is_a: HP:0000610 ! Abnormal choroid morphology [Term] id: HP:0001140 name: Limbal dermoid def: "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Benign eye tumor" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Benign eye tumour" BROAD uk_spelling [] synonym: "Epibulbar dermoid" EXACT [] synonym: "Epibulbar dermoids" EXACT plural_form [] xref: SNOMEDCT_US:5131000119107 xref: SNOMEDCT_US:92097004 xref: UMLS:C0496897 xref: UMLS:C1867616 is_a: HP:0000481 ! Abnormal cornea morphology is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0001141 name: Severely reduced visual acuity alt_id: HP:0007640 alt_id: HP:0007842 alt_id: HP:0007951 alt_id: HP:0008023 def: "Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05." [PMID:28779882] synonym: "Marked vision impairment" EXACT layperson [] synonym: "Severe reduction in visual acuity" EXACT [] synonym: "Severe vision loss" EXACT [] synonym: "Severe visual impairment" EXACT layperson [] synonym: "Severe visual loss" EXACT [] synonym: "Severely impaired vision" EXACT layperson [] xref: SNOMEDCT_US:397541004 xref: UMLS:C1301509 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0001142 name: Lenticonus def: "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly." [HPO_CONTRIBUTOR:DDD_ncarter] comment: A conical projection of the anterior or posterior surface of the lens. subset: hposlim_core xref: SNOMEDCT_US:253221000 xref: UMLS:C0239119 is_a: HP:0011526 ! Abnormality of lens shape [Term] id: HP:0001144 name: Orbital cyst def: "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [https://orcid.org/0000-0002-0736-9199] synonym: "Cyst of eye socket" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Orbital cysts" EXACT [] xref: SNOMEDCT_US:31021007 xref: UMLS:C0155285 is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0001145 name: obsolete Chorioretinopathy is_obsolete: true consider: HP:0000532 [Term] id: HP:0001146 name: obsolete Pigmentary retinal degeneration is_obsolete: true replaced_by: HP:0000580 [Term] id: HP:0001147 name: Retinal exudate def: "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina." [https://orcid.org/0000-0002-0736-9199] comment: Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema. synonym: "Retinal exudates" EXACT [] xref: SNOMEDCT_US:39832008 xref: UMLS:C0240897 is_a: HP:0030506 ! Yellow/white lesions of the retina [Term] id: HP:0001149 name: Lattice corneal dystrophy def: "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [https://orcid.org/0000-0002-0736-9199] synonym: "Biber haab dimmer dystrophy" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:1192004 xref: SNOMEDCT_US:361199007 xref: UMLS:C0155127 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0001150 name: obsolete Choroidal sclerosis is_obsolete: true consider: HP:0000532 [Term] id: HP:0001151 name: Impaired horizontal smooth pursuit def: "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal horizontal ocular pursuit" EXACT [] synonym: "Impaired horizontal visual pursuit" EXACT [] xref: UMLS:C1866753 is_a: HP:0007772 ! Impaired smooth pursuit [Term] id: HP:0001152 name: Saccadic smooth pursuit alt_id: HP:0000530 def: "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements." [https://orcid.org/0000-0002-0736-9199] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. synonym: "Saccadic pursuit movements" EXACT [] synonym: "Saccadic slow pursuit" EXACT [] xref: UMLS:C1836479 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0001153 name: Septate vagina def: "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [https://orcid.org/0000-0002-0736-9199] synonym: "Double vagina" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:47054003 xref: UMLS:C0266411 is_a: HP:0000142 ! Abnormal vagina morphology [Term] id: HP:0001155 name: Abnormality of the hand alt_id: HP:0005858 def: "An abnormality affecting one or both hands." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal hands" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the hand" EXACT layperson [] synonym: "Hand anomalies" EXACT layperson [] synonym: "Hand deformities" EXACT layperson [] xref: SNOMEDCT_US:299033004 xref: UMLS:C0018564 is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0001156 name: Brachydactyly alt_id: HP:0001189 alt_id: HP:0001201 alt_id: HP:0005630 alt_id: HP:0005657 alt_id: HP:0005727 alt_id: HP:0006017 alt_id: HP:0006128 alt_id: HP:0100667 def: "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachydactyly syndrome" EXACT [] synonym: "Short fingers or toes" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:43476002 xref: UMLS:C0221357 is_a: HP:0011927 ! Short digit [Term] id: HP:0001159 name: Syndactyly alt_id: HP:0001206 alt_id: HP:0001236 def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\"." [https://orcid.org/0000-0002-0736-9199] comment: Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. synonym: "Webbed fingers or toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4174 xref: SNOMEDCT_US:373413006 xref: UMLS:C0039075 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001161 name: Hand polydactyly def: "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Extra finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Finger polydactyly" EXACT [] synonym: "Polydactyly of the hand" EXACT [] synonym: "Supernumerary finger" EXACT [https://orcid.org/0000-0001-6908-9849] xref: MEDDRA:10036064 "Polydactyly of fingers" xref: SNOMEDCT_US:81793007 xref: UMLS:C0158733 is_a: HP:0009997 ! Duplication of phalanx of hand is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001162 name: Postaxial hand polydactyly alt_id: HP:0004698 alt_id: HP:0005763 alt_id: HP:0009984 def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Extra little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Extra pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Extra pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Polydactyly affecting the 5th finger" EXACT [] synonym: "Postaxial polydactyly of fingers" EXACT [] synonym: "Postaxial polydactyly of hand" EXACT [] synonym: "Postaxial polydactyly of hands" EXACT [] xref: SNOMEDCT_US:205131007 xref: UMLS:C0431904 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001163 name: obsolete Abnormality of the metacarpal bones is_obsolete: true replaced_by: HP:0005916 [Term] id: HP:0001166 name: Arachnodactyly alt_id: HP:0001505 def: "Abnormally long and slender fingers (spider fingers)." [https://orcid.org/0000-0002-0736-9199] synonym: "Long slender fingers" EXACT layperson [] synonym: "Long, slender fingers" EXACT [] synonym: "Spider fingers" EXACT layperson [] xref: SNOMEDCT_US:62250003 xref: UMLS:C0003706 is_a: HP:0001238 ! Slender finger is_a: HP:0100807 ! Long fingers [Term] id: HP:0001167 name: Abnormal finger morphology alt_id: HP:0003035 def: "An anomaly of a finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormalities of the fingers" EXACT layperson [] synonym: "Abnormality of finger" EXACT layperson [] xref: UMLS:C2674737 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001169 name: Broad palm alt_id: HP:0001174 def: "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). synonym: "Broad hand" EXACT layperson [] synonym: "Broad hands" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Broad palm" EXACT layperson [] synonym: "Wide palm" EXACT layperson [] xref: SNOMEDCT_US:48251003 xref: UMLS:C0264142 is_a: HP:0100871 ! Abnormal palm morphology [Term] id: HP:0001171 name: Split hand alt_id: HP:0001247 alt_id: HP:0003050 def: "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands." [https://orcid.org/0009-0006-4530-3154] synonym: "Ectrodactyly of the hand" EXACT [] synonym: "Hand ectrodactyly" EXACT [] synonym: "Split hand" EXACT layperson [] synonym: "Split-hand" EXACT layperson [] xref: SNOMEDCT_US:299034005 xref: UMLS:C0221373 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001172 name: Abnormal thumb morphology def: "An abnormal structure of the first digit of the hand." [] synonym: "Abnormality of the thumb" EXACT layperson [] synonym: "Abnormality of the thumbs" EXACT layperson [] synonym: "Thumb deformity" EXACT layperson [] xref: SNOMEDCT_US:299130003 xref: UMLS:C0575897 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001176 name: Large hands alt_id: HP:0002820 alt_id: HP:0006044 alt_id: HP:0006219 synonym: "Disproportionately large hands" EXACT [] synonym: "large hand" EXACT layperson [] synonym: "Large hands" EXACT layperson [] xref: SNOMEDCT_US:249752003 xref: UMLS:C0426870 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001177 name: Preaxial hand polydactyly alt_id: HP:0005629 alt_id: HP:0005634 alt_id: HP:0006182 alt_id: HP:0009604 def: "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra thumb" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Polydactyly affecting the thumb" EXACT [] synonym: "Preaxial polydactyly of hands" EXACT [] synonym: "Supernumerary thumb" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "thumb polydactyly" EXACT [] xref: SNOMEDCT_US:205135003 xref: SNOMEDCT_US:445216006 xref: UMLS:C1395852 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001178 name: Ulnar claw def: "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm." [https://orcid.org/0000-0002-0736-9199] comment: An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand. xref: UMLS:C4025799 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001180 name: obsolete Hand oligodactyly is_obsolete: true replaced_by: HP:0009380 [Term] id: HP:0001181 name: Adducted thumb alt_id: HP:0005646 def: "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [https://orcid.org/0000-0002-6670-9157, PMID:16235349, PMID:19125433] comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. synonym: "Adducted thumbs" EXACT [] synonym: "Inward turned thumb" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Thumb-in-palm deformity" EXACT [] synonym: "Thumb-in-palm pattern" EXACT [] xref: UMLS:C3554617 is_a: HP:0001172 ! Abnormal thumb morphology [Term] id: HP:0001182 name: Tapered finger alt_id: HP:0005795 alt_id: HP:0005800 alt_id: HP:0006032 alt_id: HP:0006080 alt_id: HP:0006098 alt_id: HP:0006111 alt_id: HP:0006125 alt_id: HP:0006244 alt_id: HP:0007532 def: "The gradual reduction in girth of the finger from proximal to distal." [PMID:19125433] subset: hposlim_core synonym: "Distally tapering fingers" EXACT [] synonym: "Tapered finger" EXACT layperson [] synonym: "Tapered fingers" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Tapered fingertips" EXACT layperson [] synonym: "Tapering fingers" EXACT layperson [] xref: SNOMEDCT_US:249768009 xref: UMLS:C0426886 is_a: HP:0100807 ! Long fingers [Term] id: HP:0001187 name: Hyperextensibility of the finger joints alt_id: HP:0006158 def: "The ability of the finger joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199] synonym: "Finger joint hyperextensibility" EXACT layperson [] synonym: "Hyperextensible digits" EXACT layperson [] synonym: "Hyperextensible finger" EXACT layperson [] synonym: "Hyperextensible fingers" RELATED layperson [] xref: UMLS:C1844577 is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0001188 name: Hand clenching def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted." [https://orcid.org/0009-0006-4530-3154, PMID:10085502, PMID:16702456, PMID:27638597] comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. subset: hposlim_core synonym: "Clenched hand" EXACT [] synonym: "Clenched hands" EXACT layperson [] synonym: "Fisted hand" EXACT [] synonym: "Fisting" EXACT [] synonym: "Hand clenching" EXACT layperson [] synonym: "Hands fisted" EXACT [] synonym: "Hands tightly fisted" EXACT [] synonym: "Thumb clasp" EXACT [] xref: UMLS:C0239815 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001191 name: Abnormal carpal morphology def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal carpal bones" EXACT [] synonym: "Abnormal wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the carpal bones" EXACT [] synonym: "Anomalous carpal bones" EXACT [] synonym: "Carpal bone anomalies" EXACT [] xref: UMLS:C1840535 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0025798 ! Abnormal wrist morphology [Term] id: HP:0001193 name: Ulnar deviation of the hand or of fingers of the hand xref: UMLS:C4048199 is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0001194 name: Abnormalities of placenta or umbilical cord def: "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormalities of placenta or umbilical cord" EXACT layperson [] xref: UMLS:C4025798 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001195 name: Single umbilical artery def: "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [https://orcid.org/0000-0002-0736-9199] comment: The umbilical cord normally has two arteries and one vein. synonym: "2 vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "2 vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Only one artery in umbilical cord instead of two" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "SUA" EXACT abbreviation [] synonym: "Two vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Two vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Two-vessel cord" EXACT [] xref: SNOMEDCT_US:204470001 xref: UMLS:C1384670 is_a: HP:0010948 ! Abnormal fetal cardiovascular morphology is_a: HP:0011403 ! Abnormal umbilical cord blood vessel morphology is_a: HP:0011425 ! Fetal ultrasound soft marker [Term] id: HP:0001196 name: Short umbilical cord def: "Decreased length of the umbilical cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Short umbilical cord" EXACT layperson [] xref: SNOMEDCT_US:59795007 xref: UMLS:C0266786 is_a: HP:0010881 ! Abnormality of the umbilical cord [Term] id: HP:0001197 name: Abnormality of prenatal development or birth def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [https://orcid.org/0000-0002-0736-9199] comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. synonym: "Abnormality of prenatal development or birth" EXACT layperson [] xref: UMLS:C4025797 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001199 name: Triphalangeal thumb alt_id: HP:0005846 alt_id: HP:0006194 alt_id: HP:0009610 alt_id: HP:0009619 def: "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb. subset: hposlim_core synonym: "Accessory phalanx of the thumb" EXACT [] synonym: "Digitalized thumb" EXACT [] synonym: "Finger-like thumb" EXACT layperson [] synonym: "Triphalangeal thumbs" EXACT [] synonym: "Triphalangy of thumb" EXACT [] xref: SNOMEDCT_US:205308004 xref: UMLS:C0241397 is_a: HP:0009602 ! Abnormality of thumb phalanx [Term] id: HP:0001204 name: Distal symphalangism of hands alt_id: HP:0006079 alt_id: HP:0006116 alt_id: HP:0009841 alt_id: HP:0009871 def: "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [https://orcid.org/0009-0006-4530-3154] synonym: "Fused outermost bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT [] synonym: "Synostosis of distal phalanges" EXACT [] synonym: "Terminal symphalangism" EXACT [] xref: UMLS:C1862158 is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001211 name: Abnormal fingertip morphology def: "An abnormal structure of the tip (end) of a finger." [] synonym: "Abnormality of the fingertips" EXACT layperson [] xref: UMLS:C4025796 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001212 name: Prominent fingertip pads alt_id: HP:0001235 def: "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Persistence of fingerpads" EXACT [] synonym: "Persistent fetal fingertip pads" EXACT [] synonym: "Persistent foetal fingertip pads" EXACT uk_spelling [] synonym: "Prominent finger pads" EXACT layperson [] synonym: "Prominent fingertip pads" EXACT layperson [] xref: UMLS:C1835807 is_a: HP:0001211 ! Abnormal fingertip morphology is_a: HP:0011298 ! Prominent digit pad [Term] id: HP:0001215 name: Camptodactyly of 2nd-5th fingers def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859368 is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0001216 name: Delayed ossification of carpal bones alt_id: HP:0006069 def: "Ossification of carpal bones occurs later than age-adjusted norms." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Carpal delayed ossification" EXACT [] synonym: "Delayed carpal bone age" EXACT [] synonym: "Delayed carpal ossification" EXACT [] synonym: "Delayed maturation of carpal bones" EXACT [] synonym: "Delayed maturation of wrist bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1841684 xref: UMLS:C4280599 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0001217 name: Clubbing alt_id: HP:0003036 alt_id: HP:0005874 def: "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [https://orcid.org/0009-0006-4530-3154, PMID:19125433] comment: Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). synonym: "Clubbing of fingers and toes" EXACT layperson [] synonym: "Digital clubbing" EXACT [] xref: SNOMEDCT_US:367004 xref: UMLS:C0149651 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001218 name: Autoamputation def: "Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology." [https://orcid.org/0000-0002-0736-9199, PMID:31633102] xref: UMLS:C1833222 is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0001220 name: Interphalangeal joint contracture of finger def: "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Interphalangeal joint flexion contractures" EXACT [] xref: UMLS:C4021784 is_a: HP:0012785 ! Flexion contracture of finger [Term] id: HP:0001222 name: Spatulate thumbs def: "Spoon-shaped, broad thumbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Spoon shaped thumbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0241395 is_a: HP:0011304 ! Broad thumb [Term] id: HP:0001223 name: Pointed proximal second through fifth metacarpals def: "All of the metacarpal bones of the hand have a pointed proximal appearance." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1854787 is_a: HP:0006119 ! Proximal tapering of metacarpals [Term] id: HP:0001225 name: Wrist swelling synonym: "Wrist swelling" EXACT layperson [] xref: UMLS:C0241760 is_a: HP:0025798 ! Abnormal wrist morphology [Term] id: HP:0001226 name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits is_obsolete: true replaced_by: HP:0006121 [Term] id: HP:0001227 name: Abnormality of the thenar eminence def: "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Thenar abnormality" EXACT [] xref: UMLS:C4021783 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0001230 name: Broad metacarpals alt_id: HP:0006024 alt_id: HP:0006065 def: "Abnormally broad metacarpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Wide long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide metacarpals" EXACT [] xref: UMLS:C1842229 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0001231 name: Abnormal fingernail morphology def: "An abnormality of the fingernails." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal fingernails" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the fingernails" EXACT layperson [] xref: UMLS:C4021782 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0001232 name: Nail bed telangiectasia def: "Telangiectases in the area of the nails." [https://orcid.org/0000-0002-0736-9199] synonym: "Nail bed telangiectases" EXACT [] xref: UMLS:C1838167 is_a: HP:0001009 ! Telangiectasia is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0001233 name: 2-3 finger cutaneous syndactyly alt_id: HP:0006039 alt_id: HP:0006122 def: "A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154] synonym: "Syndactyly 2nd-3rd fingers" EXACT [] synonym: "Syndactyly, 2-3 finger" EXACT [] synonym: "Webbed 2nd-3rd fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205139009 xref: UMLS:C0432055 is_a: HP:0010554 ! Cutaneous finger syndactyly [Term] id: HP:0001234 name: Hitchhiker thumb alt_id: HP:0009620 alt_id: HP:0040021 def: "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending. subset: hposlim_core synonym: "Abducted thumb" EXACT [] synonym: "Hitchhiker thumb" EXACT layperson [] xref: UMLS:C1857269 is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009603 ! Deviation of the thumb is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0001238 name: Slender finger def: "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [PMID:19125433] subset: hposlim_core synonym: "Narrow fingers" EXACT layperson [] synonym: "Slender finger" EXACT layperson [] synonym: "Slender fingers" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "thin fingers" EXACT layperson [] xref: UMLS:C1857482 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001239 name: Wrist flexion contracture alt_id: HP:0006049 alt_id: HP:0006137 def: "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist." [https://orcid.org/0000-0002-0736-9199] synonym: "Wrist contracture" EXACT [] synonym: "Wrist flexion deformity" EXACT [] xref: SNOMEDCT_US:202275008 xref: UMLS:C0409345 is_a: HP:0025798 ! Abnormal wrist morphology is_a: HP:0100360 ! Upper-limb joint contracture [Term] id: HP:0001241 name: Capitate-hamate fusion synonym: "Capitate-hamate fusions" EXACT [] synonym: "Fused capitate and hamate" EXACT [] synonym: "Fusion of capitate and hamate" EXACT [] synonym: "Fusion of hamate and capitate" EXACT [] xref: UMLS:C1857002 is_a: HP:0004259 ! Abnormal hamate bone morphology is_a: HP:0004262 ! Abnormal capitate bone morphology is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0001245 name: Small thenar eminence alt_id: HP:0006188 def: "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. subset: hposlim_core synonym: "Decreased thenar eminence" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic thenar eminences" EXACT [] synonym: "Thenar hypoplasia" EXACT [] synonym: "Thenar muscle hypoplasia" EXACT [] xref: UMLS:C1846474 is_a: HP:0001227 ! Abnormality of the thenar eminence [Term] id: HP:0001248 name: Short tubular bones of the hand def: "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals." [https://orcid.org/0000-0002-0736-9199] comment: Long bones are also known as tubular bones. synonym: "Long bone shortening of the hand" EXACT [] synonym: "Short long bones of the hand" EXACT [] synonym: "Shortened long tubular bones of the hand" EXACT [] synonym: "Shortened tubular bones of the hand" EXACT [] xref: UMLS:C4025795 is_a: HP:0003026 ! Short long bone is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001249 name: Intellectual disability alt_id: HP:0000730 alt_id: HP:0001267 alt_id: HP:0001286 alt_id: HP:0002122 alt_id: HP:0002192 alt_id: HP:0002316 alt_id: HP:0002382 alt_id: HP:0002386 alt_id: HP:0002402 alt_id: HP:0002458 alt_id: HP:0002482 alt_id: HP:0002499 alt_id: HP:0002543 alt_id: HP:0003767 alt_id: HP:0006833 alt_id: HP:0006877 alt_id: HP:0007154 alt_id: HP:0007176 alt_id: HP:0007180 def: "Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70." [] comment: This term should be used for children who are at least five years old. For younger children, consider using the term Global developmental delay (HP:0001263). synonym: "Dull intelligence" RELATED [] synonym: "Intellectual disability" EXACT layperson [] synonym: "Low intelligence" RELATED layperson [] synonym: "Mental deficiency" EXACT layperson [] synonym: "Mental retardation" EXACT layperson [] synonym: "Mental retardation, nonspecific" EXACT layperson [] synonym: "Mental-retardation" EXACT layperson [] synonym: "Nonprogressive intellectual disability" EXACT [] synonym: "Nonprogressive mental retardation" EXACT [] synonym: "Poor school performance" RELATED layperson [] xref: SNOMEDCT_US:228156007 xref: SNOMEDCT_US:247578003 xref: SNOMEDCT_US:91138005 xref: UMLS:C0025362 xref: UMLS:C0423903 xref: UMLS:C0917816 xref: UMLS:C1843367 xref: UMLS:C3714756 xref: UMLS:C4020876 is_a: HP:0011446 ! Abnormality of mental function is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0001250 name: Seizure alt_id: HP:0001275 alt_id: HP:0001303 alt_id: HP:0002125 alt_id: HP:0002182 alt_id: HP:0002279 alt_id: HP:0002306 alt_id: HP:0002348 alt_id: HP:0002391 alt_id: HP:0002417 alt_id: HP:0002430 alt_id: HP:0002431 alt_id: HP:0002432 alt_id: HP:0002434 alt_id: HP:0002437 alt_id: HP:0002466 alt_id: HP:0002479 alt_id: HP:0002794 alt_id: HP:0006997 alt_id: HP:0010520 def: "A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [https://orcid.org/0000-0002-0736-9199, PMID:15816939] comment: A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. synonym: "Epilepsy" RELATED layperson [] synonym: "Epileptic seizure" EXACT [] synonym: "Seizures" EXACT plural_form [] xref: SNOMEDCT_US:128613002 xref: SNOMEDCT_US:246545002 xref: SNOMEDCT_US:313307000 xref: SNOMEDCT_US:84757009 xref: SNOMEDCT_US:91175000 xref: UMLS:C0014544 xref: UMLS:C0036572 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001251 name: Ataxia alt_id: HP:0001253 alt_id: HP:0002513 alt_id: HP:0007050 alt_id: HP:0007157 def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [https://orcid.org/0000-0002-0736-9199] comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. synonym: "Cerebellar ataxia" EXACT [] xref: SNOMEDCT_US:85102008 xref: UMLS:C0007758 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001252 name: Hypotonia alt_id: HP:0011398 def: "Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [https://orcid.org/0000-0002-0736-9199, PMID:21418198] comment: Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. synonym: "Central hypotonia" NARROW [] synonym: "Low muscle tone" EXACT layperson [] synonym: "Low or weak muscle tone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Muscle hypotonia" EXACT [] synonym: "Muscular hypotonia" EXACT [] synonym: "Peripheral hypotonia" NARROW [] xref: SNOMEDCT_US:398151007 xref: SNOMEDCT_US:398152000 xref: UMLS:C0026827 is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001254 name: Lethargy def: "A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks." [] comment: Apathy and lethargy may co-occur. synonym: "Dullness" EXACT [] synonym: "Inaction" EXACT [] synonym: "Inactivity" EXACT [] synonym: "Languor" EXACT [] synonym: "Lethargy" EXACT layperson [] synonym: "Slowness" EXACT [] synonym: "Torpor" EXACT [] xref: SNOMEDCT_US:214264003 xref: UMLS:C0023380 is_a: HP:0000745 ! Abnormal diminished volition property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0001256 name: Intellectual disability, mild alt_id: HP:0006908 alt_id: HP:0007119 def: "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [https://orcid.org/0000-0002-0736-9199] synonym: "Intellectual disability, mild" EXACT layperson [] synonym: "Mental retardation, borderline-mild" EXACT layperson [] synonym: "Mental retardation, mild" RELATED layperson [] synonym: "Mild and nonprogressive mental retardation" EXACT layperson [] synonym: "Mild mental retardation" EXACT layperson [] xref: SNOMEDCT_US:86765009 xref: UMLS:C0026106 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0001257 name: Spasticity def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [https://orcid.org/0000-0002-0736-9199] synonym: "Involuntary muscle stiffness, contraction, or spasm" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Muscle spasticity" EXACT [] synonym: "Muscular spasticity" EXACT [] xref: SNOMEDCT_US:221360009 xref: SNOMEDCT_US:397790002 xref: UMLS:C0026838 is_a: HP:0001276 ! Hypertonia is_a: HP:0002493 ! Upper motor neuron dysfunction [Term] id: HP:0001258 name: Spastic paraplegia alt_id: HP:0007062 alt_id: HP:0007124 alt_id: HP:0007216 def: "Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs." [https://orcid.org/0000-0002-0736-9199, PMID:19277459] comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. synonym: "Spastic paraplegia, lower limb" EXACT [] xref: SNOMEDCT_US:192967009 xref: UMLS:C0037772 is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0010550 ! Paraplegia [Term] id: HP:0001259 name: Coma def: "The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli." [PMID:33218655] comment: Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. synonym: "Coma" EXACT layperson [] synonym: "Persistent vegetative state" EXACT [] synonym: "Stupor" EXACT [] synonym: "Trance" RELATED [] synonym: "Unconsciousness" EXACT [] xref: ICD-10:R40.2 "Coma, unspecified" xref: SNOMEDCT_US:371632003 xref: UMLS:C0009421 is_a: HP:0004372 ! Reduced consciousness property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0001260 name: Dysarthria alt_id: HP:0002327 def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty articulating speech" EXACT layperson [] synonym: "Dysarthric speech" EXACT [] xref: SNOMEDCT_US:8011004 xref: UMLS:C0013362 is_a: HP:0002167 ! Abnormal speech pattern [Term] id: HP:0001262 name: Excessive daytime somnolence alt_id: HP:0002189 def: "A state of abnormally strong desire for sleep during the daytime." [] synonym: "Excessive daytime sleepiness" EXACT layperson [] synonym: "More than typical sleepiness during day" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:271782001 xref: SNOMEDCT_US:79519003 xref: UMLS:C2830004 is_a: HP:0002360 ! Sleep abnormality is_a: HP:0004372 ! Reduced consciousness [Term] id: HP:0001263 name: Global developmental delay alt_id: HP:0000754 alt_id: HP:0001255 alt_id: HP:0001277 alt_id: HP:0001292 alt_id: HP:0002433 alt_id: HP:0002473 alt_id: HP:0002532 alt_id: HP:0006793 alt_id: HP:0006867 alt_id: HP:0006885 alt_id: HP:0006935 alt_id: HP:0007005 alt_id: HP:0007094 alt_id: HP:0007106 alt_id: HP:0007174 alt_id: HP:0007224 alt_id: HP:0007228 alt_id: HP:0007342 alt_id: HP:0025356 def: "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [https://orcid.org/0000-0002-6410-0882, https://orcid.org/0009-0006-4530-3154] comment: Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. synonym: "Cognitive delay" RELATED [] synonym: "Delayed cognitive development" EXACT [] synonym: "Delayed development" EXACT [] synonym: "Delayed developmental milestones" EXACT [] synonym: "Delayed intellectual development" EXACT [] synonym: "Delayed milestones" EXACT [] synonym: "Delayed psychomotor development" EXACT [] synonym: "Developmental delay" EXACT [] synonym: "Developmental delay in early childhood" EXACT [] synonym: "Developmental delay, global" EXACT [] synonym: "Developmental retardation" EXACT [] synonym: "GDD" EXACT abbreviation [] synonym: "Lack of psychomotor development" EXACT [] synonym: "Mental and motor retardation" RELATED [] synonym: "Motor and developmental delay" EXACT [] synonym: "Motormental retardation" EXACT [] synonym: "Psychomotor delay" EXACT [] synonym: "Psychomotor development deficiency" EXACT [] synonym: "Psychomotor development failure" EXACT [] synonym: "Psychomotor developmental delay" EXACT [] synonym: "Retarded development" EXACT [] synonym: "Retarded mental development" EXACT [] synonym: "Retarded psychomotor development" EXACT [] xref: SNOMEDCT_US:224958001 xref: UMLS:C0557874 xref: UMLS:C1864897 xref: UMLS:C4020875 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001264 name: Spastic diplegia def: "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Spastic diparesis" EXACT [] synonym: "Spastic diplegic" EXACT [] xref: SNOMEDCT_US:281411007 xref: UMLS:C0023882 is_a: HP:0034353 ! Appendicular spasticity [Term] id: HP:0001265 name: Hyporeflexia alt_id: HP:0002467 def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased reflex response" EXACT layperson [] synonym: "Decreased reflexes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:405946002 xref: UMLS:C0700078 is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001266 name: Choreoathetosis alt_id: HP:0002469 alt_id: HP:0006811 alt_id: HP:0007028 alt_id: HP:0007337 def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [https://orcid.org/0000-0002-0736-9199] synonym: "Choreoathetoid movements" EXACT [] xref: SNOMEDCT_US:43105007 xref: UMLS:C0085583 xref: UMLS:C0234967 is_a: HP:0002072 ! Chorea is_a: HP:0002305 ! Athetosis [Term] id: HP:0001268 name: Mental deterioration alt_id: HP:0002303 alt_id: HP:0006822 alt_id: HP:0007155 alt_id: HP:0007253 alt_id: HP:0007264 alt_id: HP:0007298 def: "Loss of previously present mental abilities, generally in adults." [https://orcid.org/0000-0002-0736-9199] synonym: "Cognitive decline" EXACT layperson [] synonym: "Cognitive decline, progressive" EXACT layperson [] synonym: "Intellectual deterioration" EXACT layperson [] synonym: "Mental deterioration" EXACT layperson [] synonym: "Progressive cognitive decline" EXACT layperson [] xref: UMLS:C0234985 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001269 name: Hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." [HPO_CONTRIBUTOR:UKB_tklockgether, https://orcid.org/0000-0002-0736-9199] synonym: "Weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:127377003 xref: SNOMEDCT_US:20022000 xref: UMLS:C0018989 is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0001270 name: Motor delay alt_id: HP:0001307 alt_id: HP:0002130 alt_id: HP:0006788 alt_id: HP:0006826 alt_id: HP:0006909 alt_id: HP:0006950 alt_id: HP:0006968 alt_id: HP:0007219 alt_id: HP:0007251 def: "A type of Developmental delay characterized by a delay in acquiring motor skills." [https://orcid.org/0000-0002-0736-9199] synonym: "Delay in development of motor milestones" EXACT [] synonym: "Delay in motor development" EXACT [] synonym: "Delayed development of motor milestones" EXACT [] synonym: "Delayed early motor milestones" EXACT [] synonym: "Delayed motor development" EXACT [] synonym: "Delayed motor milestones" EXACT [] synonym: "Locomotor delay" EXACT [] synonym: "Motor developmental delay" EXACT [] synonym: "Motor developmental milestones not achieved" EXACT [] synonym: "Motor retardation" EXACT [] synonym: "No development of motor milestones" RELATED [] synonym: "Retarded motor development" EXACT [] synonym: "Slow development of motor milestones" EXACT [] xref: UMLS:C1854301 xref: UMLS:C4020874 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001271 name: Polyneuropathy alt_id: HP:0006941 alt_id: HP:0007287 def: "A generalized disorder of peripheral nerves." [https://orcid.org/0000-0002-0736-9199] synonym: "Peripheral nerve disease" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:42345000 xref: SNOMEDCT_US:42658009 xref: UMLS:C0031117 xref: UMLS:C0152025 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001272 name: Cerebellar atrophy alt_id: HP:0002364 alt_id: HP:0006839 alt_id: HP:0007072 alt_id: HP:0007203 def: "Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event." [https://orcid.org/0000-0002-0736-9199, PMID:12169461, PMID:26331051] comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. synonym: "Atrophic cerebellum" EXACT [] synonym: "Degeneration of cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Infratentorial atrophy" RELATED [] xref: SNOMEDCT_US:95646004 xref: UMLS:C0262404 xref: UMLS:C0740279 xref: UMLS:C4020873 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0001273 name: Abnormal corpus callosum morphology alt_id: HP:0007323 def: "Abnormality of the corpus callosum." [https://orcid.org/0000-0002-0736-9199, PMID:21263138] comment: The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. synonym: "Abnormal corpus callosum" EXACT [] synonym: "Abnormality of the corpus callosum" EXACT [] synonym: "Corpus callosum abnormality" EXACT [] xref: UMLS:C1842581 is_a: HP:0002500 ! Abnormal cerebral white matter morphology [Term] id: HP:0001274 name: Agenesis of corpus callosum alt_id: HP:0006800 def: "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of corpus callosum" EXACT [] synonym: "Absent corpus callosum" EXACT [] synonym: "Agenesis of the corpus callosum" EXACT [] synonym: "Callosal agenesis" EXACT [] synonym: "Corpus callosum agenesis" EXACT [] synonym: "Dysplastic or absent corpus callosum" EXACT [] xref: Fyler:4321 xref: SNOMEDCT_US:5102002 xref: UMLS:C0175754 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001276 name: Hypertonia alt_id: HP:0002388 def: "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [https://orcid.org/0000-0002-0736-9199] comment: Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. synonym: "Hypertonicity" EXACT [] synonym: "Increased muscle tone" EXACT [] synonym: "Muscle hypertonia" RELATED [] synonym: "Spasticity and rigidity of muscles" NARROW layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:41581000 xref: SNOMEDCT_US:56731001 xref: UMLS:C0026826 is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001278 name: Orthostatic hypotension alt_id: HP:0004932 alt_id: HP:0006700 def: "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [https://orcid.org/0000-0002-0736-9199] synonym: "Decrease in blood pressure upon standing up" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Postural hypotension" EXACT [] xref: SNOMEDCT_US:28651003 xref: UMLS:C0020651 is_a: HP:0002615 ! Hypotension is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0001279 name: Syncope def: "Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." [https://orcid.org/0000-0002-0736-9199, PMID:29255499] synonym: "Fainting spell" EXACT layperson [] xref: SNOMEDCT_US:271594007 xref: SNOMEDCT_US:272030005 xref: SNOMEDCT_US:309585006 xref: UMLS:C0039070 is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T10:37:00Z [Term] id: HP:0001281 name: Tetany def: "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency." [] synonym: "Intermittent involuntary muscle spasm" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:10629009 xref: UMLS:C0039621 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0001283 name: Bulbar palsy alt_id: HP:0003441 alt_id: HP:0003709 def: "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [https://orcid.org/0000-0002-0736-9199] synonym: "Bulbar muscle weakness" EXACT [] synonym: "Bulbar palsies" EXACT [] synonym: "Bulbar weakness" EXACT [] xref: SNOMEDCT_US:398432008 xref: UMLS:C1301959 xref: UMLS:C4082299 is_a: HP:0001324 ! Muscle weakness is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001284 name: Areflexia alt_id: HP:0001314 def: "Absence of neurologic reflexes such as the knee-jerk reaction." [https://orcid.org/0000-0002-0736-9199] comment: The stretch reflexes (also called deep tendon reflexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). synonym: "Absent deep tendon reflexes" EXACT [] synonym: "Absent reflexes" BROAD layperson [] synonym: "Absent tendon reflexes" EXACT layperson [] synonym: "Deep tendon reflexes absent" EXACT [] synonym: "Loss of deep tendon reflexes" EXACT [] synonym: "Lost deep tendon reflexes" EXACT [] xref: SNOMEDCT_US:349006 xref: SNOMEDCT_US:37280007 xref: UMLS:C0234146 xref: UMLS:C0241772 xref: UMLS:C0278124 is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001285 name: Spastic tetraparesis alt_id: HP:0002393 def: "Spastic weakness affecting all four limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Spastic quadriparesis" EXACT [] xref: SNOMEDCT_US:298282001 xref: UMLS:C0575059 is_a: HP:0002273 ! Tetraparesis is_a: HP:0034353 ! Appendicular spasticity [Term] id: HP:0001287 name: Meningitis def: "Inflammation of the meninges." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:7180009 xref: UMLS:C0025289 is_a: HP:0011450 ! Unusual CNS infection [Term] id: HP:0001288 name: Gait disturbance alt_id: HP:0002355 alt_id: HP:0006953 alt_id: HP:0007101 alt_id: HP:0009030 def: "The term gait disturbance can refer to any disruption of the ability to walk." [https://orcid.org/0000-0002-0736-9199, PMID:27770207] comment: Gait disturbances can be caused by neurological or muscular diseases but also fractures or other sources of pain that is triggered upon walking. synonym: "Abnormal gait" EXACT layperson [] synonym: "Abnormal walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Difficulty in walking" EXACT layperson [] synonym: "Gait abnormalities" EXACT [] synonym: "Gait difficulties" EXACT [] synonym: "Gait disturbances" EXACT [] synonym: "Impaired gait" EXACT layperson [] synonym: "Walking disability" EXACT [] xref: SNOMEDCT_US:22325002 xref: UMLS:C0575081 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001289 name: Confusion alt_id: HP:0000731 def: "Lack of clarity and coherence of thought, perception, understanding, or action." [] synonym: "Confusion" EXACT layperson [] synonym: "Disorientation" EXACT layperson [] synonym: "Easily confused" EXACT layperson [] synonym: "Mental disorientation" EXACT layperson [] xref: SNOMEDCT_US:286933003 xref: UMLS:C0009676 is_a: HP:0100543 ! Cognitive impairment property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0001290 name: Generalized hypotonia def: "Generalized muscular hypotonia (abnormally low muscle tone)." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised decreased muscle tone" EXACT uk_spelling [] synonym: "Generalised hypotonia" EXACT uk_spelling [] synonym: "Generalised muscular hypotonia" EXACT uk_spelling [] synonym: "Generalized decreased muscle tone" EXACT layperson [] synonym: "Generalized muscular hypotonia" EXACT [] synonym: "Hypotonia, generalised" EXACT uk_spelling [] synonym: "Hypotonia, generalized" EXACT [] xref: UMLS:C1858120 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0001291 name: Abnormal cranial nerve morphology alt_id: HP:0003480 def: "Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranial nerve" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the cranial nerves" EXACT [] synonym: "Cranial nerve abnormality" RELATED [] synonym: "Cranial nerve disease" EXACT [] synonym: "Cranial nerve involvement" EXACT [] xref: UMLS:C1854510 xref: UMLS:C4020872 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0001293 name: Cranial nerve compression xref: SNOMEDCT_US:95664006 xref: UMLS:C0521670 is_a: HP:0001291 ! Abnormal cranial nerve morphology [Term] id: HP:0001297 name: Stroke alt_id: HP:0002452 def: "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebral vascular events" EXACT [] synonym: "Cerebrovascular accident" EXACT [] synonym: "Cerebrovascular accidents" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Stroke" EXACT layperson [] xref: SNOMEDCT_US:230690007 xref: UMLS:C0038454 is_a: HP:0100659 ! Abnormal cerebral vascular morphology [Term] id: HP:0001298 name: Encephalopathy def: "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state." [HPO_CONTRIBUTOR:KI_phemming, https://orcid.org/0000-0002-0736-9199] comment: This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. xref: SNOMEDCT_US:81308009 xref: UMLS:C0085584 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001300 name: Parkinsonism def: "Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." [https://orcid.org/0000-0002-0736-9199] synonym: "Parkinsonian disease" RELATED [] xref: SNOMEDCT_US:32798002 xref: UMLS:C0242422 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0001301 name: Chronic sensorineural polyneuropathy xref: UMLS:C4025794 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001302 name: Pachygyria alt_id: HP:0007227 def: "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:22427329] synonym: "Cerebral pachygyria" EXACT [] synonym: "Fewer and broader ridges in brain" EXACT layperson [] synonym: "Macrogyria" EXACT [] xref: SNOMEDCT_US:23024003 xref: UMLS:C0266483 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0001304 name: Torsion dystonia def: "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Dystonia musculorum deformans" EXACT [] xref: SNOMEDCT_US:22451001 xref: SNOMEDCT_US:431034009 xref: UMLS:C0013423 is_a: HP:0001332 ! Dystonia [Term] id: HP:0001305 name: Dandy-Walker malformation alt_id: HP:0001313 alt_id: HP:0006809 def: "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [https://orcid.org/0000-0002-0736-9199, PMID:26246090] synonym: "Dandy-walker anomaly" EXACT [] synonym: "Dandy-Walker cyst" EXACT [] xref: SNOMEDCT_US:14447001 xref: UMLS:C0010964 is_a: HP:0001320 ! Cerebellar vermis hypoplasia is_a: HP:0002198 ! Dilated fourth ventricle is_a: HP:0002350 ! Cerebellar cyst is_a: HP:0005445 ! Enlarged posterior fossa [Term] id: HP:0001308 name: Tongue fasciculations alt_id: HP:0003727 def: "Fasciculations or fibrillation affecting the tongue muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Lingual fasciculations" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual fibrillations" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual twitching" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tongue fasciculation" EXACT [] synonym: "Tongue fasciculations/fibrillations" EXACT [] synonym: "Tongue twitching" EXACT layperson [] synonym: "Twitching of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249878001 xref: UMLS:C0239548 is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0001310 name: Dysmetria def: "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." [https://orcid.org/0000-0002-0736-9199] comment: Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. synonym: "Abnormal finger chase test" RELATED [] synonym: "Abnormal finger-nose-finger test" RELATED [] synonym: "Lack of coordination of movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:32566006 xref: UMLS:C0234162 is_a: HP:0001251 ! Ataxia [Term] id: HP:0001311 name: Abnormal nervous system electrophysiology alt_id: HP:0002531 alt_id: HP:0003129 def: "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations." [https://orcid.org/0000-0002-0736-9199] synonym: "Neurophysiologic abnormalities" EXACT [] synonym: "Neurophysiologic abnormality" EXACT [] xref: UMLS:C4021781 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001312 name: Giant somatosensory evoked potentials def: "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [https://orcid.org/0000-0002-0736-9199] synonym: "Giant SEPS" EXACT [] xref: UMLS:C3806961 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001315 name: Reduced tendon reflexes alt_id: HP:0001316 def: "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease." [https://orcid.org/0000-0002-0736-9199, PMID:20941667] comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. synonym: "Absent or decreased deep tendon reflexes" EXACT [] synonym: "Decreased deep tendon reflexes" EXACT [] synonym: "Decreased tendon reflexes" EXACT [] synonym: "Decreased to absent deep tendon reflexes" EXACT [] synonym: "Decreased/absent deep tendon reflexes" EXACT [] synonym: "Depressed tendon reflexes" EXACT [] synonym: "Diminished deep tendon reflexes" EXACT [] synonym: "Diminished or absent deep tendon reflexes" EXACT [] synonym: "Diminished or absent tendon reflexes" EXACT [] synonym: "Hypoactive to absent deep tendon reflexes" EXACT [] synonym: "Impaired tendon reflexes" EXACT [] synonym: "Reduced/absent deep tendon reflexes" EXACT [] synonym: "Weak or absent deep tendon reflexes" EXACT [] xref: UMLS:C1866934 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0001317 name: Abnormal cerebellum morphology def: "Any structural abnormality of the cerebellum." [https://orcid.org/0000-0002-0736-9199, PMID:27160001] comment: A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. synonym: "Abnormality of the cerebellum" EXACT layperson [] synonym: "Cerebellar abnormalities" EXACT layperson [] synonym: "Cerebellar abnormality" EXACT layperson [] synonym: "Cerebellar anomaly" EXACT layperson [] synonym: "Cerebellar signs" EXACT [] xref: UMLS:C0742038 xref: UMLS:C1866129 is_a: HP:0011283 ! Abnormal metencephalon morphology [Term] id: HP:0001319 name: Neonatal hypotonia alt_id: HP:0006830 alt_id: HP:0008976 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital hypotonia" RELATED [] synonym: "Hypotonia, in neonatal onset" EXACT [] synonym: "Hypotonia, neonatal" EXACT [] synonym: "Low muscle tone, in neonatal onset" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205294008 xref: UMLS:C2267233 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0001320 name: Cerebellar vermis hypoplasia def: "Underdevelopment of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebellar vermal hypoplasia" EXACT [] synonym: "Hypoplasia of the cerebellar vermis" EXACT [] synonym: "Hypoplastic cerebellar vermis" EXACT [] xref: UMLS:C1840379 is_a: HP:0001321 ! Cerebellar hypoplasia is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0001321 name: Cerebellar hypoplasia alt_id: HP:0006806 alt_id: HP:0006910 alt_id: HP:0007038 alt_id: HP:0007053 def: "Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time." [https://orcid.org/0000-0002-0736-9199, PMID:26331051, PMID:27160001] comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. synonym: "Congenital cerebellar hypoplasia" EXACT [] synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] synonym: "Small cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:16026008 xref: UMLS:C0266470 is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0001322 name: obsolete Brain very small is_obsolete: true replaced_by: HP:0006872 [Term] id: HP:0001324 name: Muscle weakness alt_id: HP:0002309 alt_id: HP:0008979 alt_id: HP:0009012 alt_id: HP:0009061 def: "Reduced strength of muscles." [https://orcid.org/0000-0002-0736-9199, PMID:15832536] comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. synonym: "Muscle weakness" EXACT layperson [] synonym: "Muscular weakness" EXACT layperson [] xref: SNOMEDCT_US:26544005 xref: UMLS:C0151786 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0001325 name: Hypoglycemic coma def: "Coma induced by low blood sugar." [] synonym: "Coma caused by low blood sugar" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Coma, hypoglycemic" EXACT [] synonym: "Hypoglycaemic coma" EXACT [] synonym: "Hypoglycemic coma" EXACT [] synonym: "Loss of consciousness due to hypoglycemia" EXACT [] xref: SNOMEDCT_US:267384006 xref: UMLS:C0020617 is_a: HP:0001259 ! Coma property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0001326 name: EEG with irregular generalized spike and wave complexes def: "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with irregular generalised spike and wave complexes" EXACT uk_spelling [] xref: UMLS:C4025792 is_a: HP:0010850 ! EEG with spike-wave complexes [Term] id: HP:0001327 name: Photosensitive myoclonic seizure def: "Generalised myoclonic seizure provoked by flashing or flickering light." [PMID:28276060] synonym: "Photically induced myoclonic seizure" EXACT [] synonym: "Photomyoclonic seizure" EXACT [] synonym: "Photomyoclonic seizures" EXACT plural_form [] xref: UMLS:C4025791 is_a: HP:0002123 ! Generalized myoclonic seizure is_a: HP:0020216 ! Visually-induced seizure [Term] id: HP:0001328 name: Specific learning disability alt_id: HP:0007234 def: "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [https://orcid.org/0000-0002-0736-9199] comment: The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. xref: UMLS:C4025790 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0001331 name: Absent septum pellucidum alt_id: HP:0006969 def: "Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm." [https://orcid.org/0000-0002-0736-9199, PMID:30725733] comment: In contrast to the septum pellucidum, the cavum septum pellucidum (CSP) is a potential cavity between the membranous leaves of the septum pellucidum, separated by at least 1 mm, and is considered a normal anatomical variation. synonym: "Absence of septum pellucidum" EXACT [] synonym: "Absence of the septum pellucidum" EXACT [] synonym: "Agenesis of the septum pellucidum" EXACT [] synonym: "Missing septum pellucidum" EXACT [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:253143001 xref: UMLS:C0431371 is_a: HP:0007375 ! Abnormal septum pellucidum morphology [Term] id: HP:0001332 name: Dystonia alt_id: HP:0002328 def: "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [https://orcid.org/0000-0002-0736-9199] synonym: "Dystonic disease" RELATED [] synonym: "Dystonic movements" EXACT [] xref: UMLS:C0013421 xref: UMLS:C4020871 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001334 name: Communicating hydrocephalus def: "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199] comment: Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. xref: SNOMEDCT_US:271569006 xref: UMLS:C0009451 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0001335 name: Bimanual synkinesia def: "Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand." [https://orcid.org/0000-0002-0736-9199, PMID:22412265, PMID:28945198] comment: Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice. synonym: "Hand mirror movements" EXACT layperson [] synonym: "Mirror hand movements" EXACT layperson [] synonym: "Mirror movements" EXACT layperson [] xref: SNOMEDCT_US:229247004 xref: UMLS:C0454455 is_a: HP:0034980 ! Synkinesis [Term] id: HP:0001336 name: Myoclonus alt_id: HP:0002535 alt_id: HP:0007087 def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [https://orcid.org/0000-0002-0736-9199, PMID:20589866] comment: Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. synonym: "Involuntary jerking movements" RELATED [] synonym: "Jerking" BROAD layperson [] synonym: "Myoclonic jerks" EXACT [] xref: SNOMEDCT_US:127324008 xref: SNOMEDCT_US:17450006 xref: UMLS:C0027066 xref: UMLS:C1854302 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0001337 name: Tremor alt_id: HP:0001295 alt_id: HP:0001309 def: "An unintentional, oscillating to-and-fro muscle movement about a joint axis." [https://orcid.org/0000-0002-0736-9199, PMID:16344298, PMID:20589866] comment: Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. synonym: "Tremor" EXACT layperson [] synonym: "Tremors" EXACT plural_form [] xref: SNOMEDCT_US:26079004 xref: UMLS:C0040822 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0001338 name: Partial agenesis of the corpus callosum alt_id: HP:0006982 alt_id: HP:0007090 alt_id: HP:0007128 def: "A partial failure of the development of the corpus callosum." [https://orcid.org/0000-0002-0736-9199] synonym: "Corpus callosum agenesis, partial" EXACT [] synonym: "Partial agenesis of corpus callosum" EXACT [] synonym: "Partial corpus callosum agenesis" EXACT [] synonym: "Partial or complete agenesis of corpus callosum" EXACT [] synonym: "Partial or complete agenesis of the corpus callosum" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Partial to complete agenesis of corpus callosum" EXACT [] synonym: "Partial-total agenesis of corpus callosum" EXACT [] xref: SNOMEDCT_US:253140003 xref: UMLS:C0431368 xref: UMLS:C1857278 is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0001339 name: Lissencephaly alt_id: HP:0002537 def: "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28440899] comment: Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. synonym: "Fewer or absent grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:204036008 xref: UMLS:C0266463 xref: UMLS:C1879312 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001340 name: Enhancement of the C-reflex def: "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response." [https://orcid.org/0000-0002-0736-9199, PMID:4819909] xref: UMLS:C3552824 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001341 name: Olfactory lobe agenesis synonym: "Olfactory lobe absence" EXACT layperson [] xref: UMLS:C1855331 is_a: HP:0025057 ! Abnormal olfactory lobe morphology [Term] id: HP:0001342 name: Cerebral hemorrhage alt_id: HP:0002137 def: "Hemorrhage into the parenchyma of the brain." [HPO_CONTRIBUTOR:gcarletti] comment: A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. synonym: "Bleeding in brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Cerebral haemorrhage" EXACT uk_spelling [] synonym: "Hemorrhagic stroke" RELATED [https://orcid.org/0000-0001-6908-9849] synonym: "Intracerebral haemorrhage" EXACT uk_spelling [] synonym: "Intracerebral hemorrhage" EXACT [] xref: SNOMEDCT_US:230706003 xref: SNOMEDCT_US:274100004 xref: UMLS:C0553692 xref: UMLS:C2937358 is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0001343 name: Kernicterus def: "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:50143004 xref: SNOMEDCT_US:74925009 xref: UMLS:C0022610 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0001344 name: Absent speech alt_id: HP:0001617 alt_id: HP:0006798 def: "Complete lack of development of speech and language abilities." [https://orcid.org/0000-0002-0736-9199] comment: This term should not be used in very young children. synonym: "Absent speech development" EXACT layperson [] synonym: "Lack of language development" EXACT layperson [] synonym: "Lack of speech" EXACT layperson [] synonym: "No speech development" EXACT layperson [] synonym: "No speech or language development" EXACT layperson [] synonym: "Nonverbal" EXACT layperson [https://orcid.org/0000-0001-9114-8737] xref: UMLS:C0746940 xref: UMLS:C1854882 is_a: HP:0000750 ! Delayed speech and language development [Term] id: HP:0001345 name: Psychotic mentation def: "A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors." [] xref: UMLS:C4025789 is_a: HP:5200430 ! Abnormal psychotic pattern property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0001347 name: Hyperreflexia alt_id: HP:0001282 alt_id: HP:0006820 alt_id: HP:0007184 alt_id: HP:0007318 def: "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [https://orcid.org/0000-0002-0736-9199] comment: Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. synonym: "Increased deep tendon reflexes" EXACT [] synonym: "Increased reflexes" EXACT layperson [] xref: SNOMEDCT_US:86854008 xref: UMLS:C0151889 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0001348 name: Brisk reflexes def: "Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal." [] synonym: "Brisk deep tendon reflexes" EXACT [] xref: UMLS:C2673700 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0001349 name: Facial diplegia alt_id: HP:0005334 alt_id: HP:0007085 def: "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bilateral facial weakness" EXACT [] synonym: "Facial paresis, bilateral" EXACT [] xref: UMLS:C1836003 is_a: HP:0010628 ! Facial palsy [Term] id: HP:0001350 name: Slurred speech def: "Abnormal coordination of muscles involved in speech." [https://orcid.org/0000-0002-9102-5232] synonym: "Slurred speech" EXACT layperson [] xref: SNOMEDCT_US:289195008 xref: UMLS:C0234518 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001351 name: Jerk-locked premyoclonus spikes def: "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG." [https://orcid.org/0000-0002-0736-9199, PMID:1464676, PMID:30653168] comment: EEG-EMG jerk-locked averaging is a technique that combines EEG and EMG to assess myoclonus. The technique use electromyography (EMG) electrodes for the arms or legs, and correlates averaged EEG responses with EMG bursts used as a trigger. xref: UMLS:C3552825 is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0001355 name: Megalencephaly def: "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28658095, PMID:29594439] comment: Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces. synonym: "Enlarged brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Macrencephaly" EXACT [] xref: SNOMEDCT_US:19410003 xref: UMLS:C0221355 is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0001357 name: Plagiocephaly alt_id: HP:0001121 def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [PMID:19125436] comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. subset: hposlim_core synonym: "Asymmetry of the posterior cranium" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of the posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of the posterior skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformational plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Flat head" BROAD [https://orcid.org/0000-0002-5316-1399] synonym: "Flat head syndrome" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of cranial vault" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of head" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Positional plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:21850008 xref: SNOMEDCT_US:254024005 xref: UMLS:C0265529 xref: UMLS:C1450010 xref: UMLS:C4072830 xref: UMLS:C4280597 xref: UMLS:C4280598 xref: UMLS:C4280807 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0001360 name: Holoprosencephaly alt_id: HP:0009807 def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [https://orcid.org/0000-0002-0736-9199] comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. synonym: "Single brain ventricle" EXACT [] xref: Fyler:4338 xref: SNOMEDCT_US:30915001 xref: UMLS:C0079541 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0001361 name: Nystagmus-induced head nodding def: "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025788 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001362 name: Calvarial skull defect def: "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [https://orcid.org/0000-0002-0736-9199] synonym: "Calvarial defect" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Cranial defect" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Skull defect" EXACT layperson [] xref: UMLS:C4025787 xref: UMLS:C4280595 xref: UMLS:C4280596 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0001363 name: Craniosynostosis alt_id: HP:0001365 alt_id: HP:0004494 alt_id: HP:0005448 alt_id: HP:0005457 alt_id: HP:0005467 alt_id: HP:0008492 def: "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [https://orcid.org/0000-0002-0736-9199] comment: Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. subset: hposlim_core synonym: "Cranial suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Craniostenosis" RELATED [] synonym: "Craniosyostosis" EXACT [] synonym: "Deformity of the skull" BROAD layperson [https://en.wikipedia.org/wiki/Craniosynostosis, https://orcid.org/0000-0002-9353-5498] synonym: "Early fusion of cranial sutures" EXACT [] synonym: "Premature closure of cranial sutures" EXACT [] synonym: "Premature suture closure" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4336 xref: SNOMEDCT_US:57219006 xref: UMLS:C0010278 xref: UMLS:C0235942 is_a: HP:0002683 ! Abnormal calvaria morphology is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0001367 name: Abnormal joint morphology def: "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the joints" EXACT layperson [] synonym: "Anomaly of the joints" EXACT layperson [] synonym: "Joint disease" RELATED layperson [] xref: SNOMEDCT_US:399269003 xref: UMLS:C0022408 xref: UMLS:C0240083 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001369 name: Arthritis def: "Inflammation of a joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Arthritis" EXACT layperson [] synonym: "Joint inflammation" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:3723001 xref: UMLS:C0003864 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001370 name: Rheumatoid arthritis def: "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures." [https://orcid.org/0000-0002-0736-9199] synonym: "RA" EXACT abbreviation [] synonym: "Rheumatoid arthritis" EXACT layperson [] xref: SNOMEDCT_US:69896004 xref: UMLS:C0003873 is_a: HP:0001369 ! Arthritis [Term] id: HP:0001371 name: Flexion contracture alt_id: HP:0001372 alt_id: HP:0001381 alt_id: HP:0005053 alt_id: HP:0005189 alt_id: HP:0005660 def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Flexed joint that cannot be straightened" EXACT layperson [] synonym: "Flexion contractures" EXACT [] synonym: "Flexion contractures of joints" EXACT [] xref: SNOMEDCT_US:203598005 xref: SNOMEDCT_US:385522000 xref: SNOMEDCT_US:55033002 xref: SNOMEDCT_US:57048009 xref: SNOMEDCT_US:7890003 xref: SNOMEDCT_US:88565003 xref: UMLS:C0009917 xref: UMLS:C0009918 xref: UMLS:C0333068 xref: UMLS:C1850530 is_a: HP:0034392 ! Joint contracture [Term] id: HP:0001373 name: Joint dislocation alt_id: HP:0002772 alt_id: HP:0005837 def: "Displacement or malalignment of joints." [https://orcid.org/0000-0002-0736-9199] comment: Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. synonym: "Joint dislocation" EXACT layperson [] synonym: "Joint dislocations" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:108367008 xref: SNOMEDCT_US:87642003 xref: UMLS:C0012691 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001374 name: Congenital hip dislocation synonym: "Congenital dislocation of the hip" EXACT [] synonym: "Congenital dislocation of the hips" EXACT [] synonym: "Congenital hip anomaly" EXACT [] synonym: "Congenital hip dislocations" EXACT [] synonym: "Dislocated hip since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:48334007 xref: SNOMEDCT_US:52781008 xref: UMLS:C0019555 is_a: HP:0001385 ! Hip dysplasia is_a: HP:0002827 ! Hip dislocation [Term] id: HP:0001376 name: Limitation of joint mobility alt_id: HP:0003101 def: "A reduction in the freedom of movement of one or more joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased joint mobility" EXACT layperson [] synonym: "Decreased mobility of joints" EXACT layperson [] synonym: "Limitation of joint mobility" EXACT layperson [] synonym: "Limited joint mobility" EXACT layperson [] synonym: "Limited joint motion" EXACT layperson [] xref: UMLS:C1857108 is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001377 name: Limited elbow extension alt_id: HP:0005073 def: "Limited ability to straighten the arm at the elbow joint." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased elbow extension" EXACT layperson [] synonym: "Elbow limited extension" EXACT layperson [] synonym: "Limitation of elbow extension" EXACT layperson [] synonym: "Limited elbow extension" EXACT layperson [] synonym: "Limited extension at elbows" EXACT layperson [] synonym: "Limited forearm extension" EXACT layperson [] synonym: "Restricted elbow extension" EXACT layperson [] xref: UMLS:C1867103 is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0001379 name: obsolete Degenerative joint disease is_obsolete: true replaced_by: HP:0002758 [Term] id: HP:0001380 name: obsolete Ligamentous laxity is_obsolete: true replaced_by: HP:0001382 [Term] id: HP:0001382 name: Joint hypermobility alt_id: HP:0001378 alt_id: HP:0001380 alt_id: HP:0001383 alt_id: HP:0001388 alt_id: HP:0002771 alt_id: HP:0005034 alt_id: HP:0005692 def: "The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes." [https://orcid.org/0000-0002-0736-9199, PMID:28145606] comment: Synonyms of joint hypermobility (JH) include joint laxity and double-jointedness. In general terms, joint hyperlaxity is often considered a further synonym of JH. JH may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. Establishing whether a joint is hypermobile or not is a relatively easy task and it is carried out by (i) using professional tools, such as the orthopedic goniometer; (ii) following specific procedures; and (iii) comparing the measured range of motion (ROM) with normal parameters. When JH is observed at one or a few types of joints (usually fewer than five) it may be defined as localized joint hypermobility (LJH). Typically, LJH affects a single small or large joint and may be bilateral (e.g., bilateral genu recurvatum due to knee hyperextensibility). LJH may be inherited, but it may be an acquired trait related to, for example, past trauma, joint disease, surgery, or training (e.g., spine hypermobility). In individuals with JH at multiple sites (usually five or more), the term generalized joint hypermobility (GJH) is preferred. synonym: "Double-Jointed" EXACT layperson [] synonym: "Extensible joints" EXACT [] synonym: "Flexible joints" EXACT layperson [] synonym: "Hyperextensible joints" EXACT [] synonym: "Increased joint mobility" EXACT [] synonym: "Increased mobility of joints" EXACT layperson [] synonym: "Joint hyperextensibility" EXACT [] synonym: "Joint hyperflexibility" EXACT [] synonym: "Joint hyperlaxity" EXACT [] synonym: "Joint instability" RELATED [] synonym: "Joint laxity" EXACT [] synonym: "Joint ligamentous laxity" RELATED [] synonym: "Joints move beyond expected range of motion" EXACT layperson [] synonym: "Lax joints" EXACT layperson [] synonym: "Ligamentous laxity" RELATED [] synonym: "Loose-jointedness" EXACT layperson [] xref: SNOMEDCT_US:298181000 xref: UMLS:C1844820 is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001384 name: Abnormal hip joint morphology def: "An abnormality of the hip joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the hip joint" EXACT layperson [] synonym: "Abnormality of the hip joints" RELATED layperson [] xref: UMLS:C4020870 is_a: HP:0003272 ! Abnormal hip bone morphology is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0001385 name: Hip dysplasia alt_id: HP:0008787 def: "The presence of developmental dysplasia of the hip." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal formation of the hip" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Congenital hip dysplasia" EXACT [] synonym: "DDH" EXACT abbreviation [] synonym: "Developmental dysplasia of the hip" EXACT [] xref: SNOMEDCT_US:48334007 xref: SNOMEDCT_US:52781008 xref: UMLS:C0019555 is_a: HP:0003272 ! Abnormal hip bone morphology [Term] id: HP:0001386 name: Joint swelling synonym: "Joint swelling" EXACT layperson [] xref: SNOMEDCT_US:271771009 xref: UMLS:C0152031 is_a: HP:0000969 ! Edema is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001387 name: Joint stiffness alt_id: HP:0002775 alt_id: HP:0003033 def: "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint stiffness" EXACT layperson [] synonym: "Stiff joint" EXACT layperson [] synonym: "Stiff joints" EXACT layperson [] xref: SNOMEDCT_US:84445001 xref: UMLS:C0162298 is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0001388 name: obsolete Joint laxity is_obsolete: true replaced_by: HP:0001382 [Term] id: HP:0001392 name: Abnormality of the liver def: "An abnormality of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal liver" EXACT layperson [] synonym: "Abnormality of the liver" EXACT layperson [] synonym: "Liver abnormality" EXACT layperson [] synonym: "Liver disease" RELATED layperson [] xref: SNOMEDCT_US:235856003 xref: UMLS:C0023895 xref: UMLS:C4021780 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001394 name: Cirrhosis def: "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [https://orcid.org/0000-0002-0736-9199] comment: Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. synonym: "Hepatic cirrhosis" EXACT [] synonym: "Liver cirrhosis" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Scar tissue replaces healthy tissue in the liver" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:19943007 xref: UMLS:C0023890 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0001395 name: Hepatic fibrosis def: "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [https://orcid.org/0000-0002-0736-9199] synonym: "Liver fibrosis" EXACT [] xref: SNOMEDCT_US:62484002 xref: UMLS:C0239946 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0001396 name: Cholestasis def: "Impairment of bile flow due to obstruction in bile ducts." [https://orcid.org/0000-0002-0736-9199] synonym: "Slowed or blocked flow of bile from liver" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:197446008 xref: SNOMEDCT_US:30144000 xref: SNOMEDCT_US:33688009 xref: UMLS:C0008370 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001397 name: Hepatic steatosis alt_id: HP:0002252 alt_id: HP:0200121 def: "Steatosis is a term used to denote lipid accumulation within hepatocytes." [https://orcid.org/0000-0002-0736-9199, PMID:31603713] comment: Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. synonym: "Fatty infiltration of liver" EXACT layperson [] synonym: "Fatty liver" EXACT layperson [] synonym: "Liver steatosis" EXACT [] synonym: "Steatosis" EXACT [] xref: SNOMEDCT_US:197321007 xref: SNOMEDCT_US:442191002 xref: UMLS:C2711227 is_a: HP:0006561 ! Lipid accumulation in hepatocytes [Term] id: HP:0001399 name: Hepatic failure synonym: "Hepatic insufficiency" EXACT [] synonym: "Liver failure" EXACT layperson [] xref: SNOMEDCT_US:59927004 xref: UMLS:C0085605 is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0001400 name: obsolete Hepatic abscesses due to immunodeficiency is_obsolete: true replaced_by: HP:0100523 [Term] id: HP:0001401 name: Intrahepatic biliary dysgenesis xref: UMLS:C1859235 is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology [Term] id: HP:0001402 name: Hepatocellular carcinoma alt_id: HP:0002899 alt_id: HP:0003007 alt_id: HP:0006750 def: "A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver." [https://orcid.org/0000-0002-0736-9199] comment: Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis. synonym: "Increased hepatocellular carcinoma risk" RELATED [] synonym: "Increased incidence of hepatocellular carcinoma" RELATED [] xref: NCIT:C3099 xref: SNOMEDCT_US:109841003 xref: SNOMEDCT_US:187769009 xref: SNOMEDCT_US:25370001 xref: UMLS:C1862761 xref: UMLS:C1867955 xref: UMLS:C2239176 is_a: HP:0002896 ! Neoplasm of the liver [Term] id: HP:0001403 name: Macrovesicular hepatic steatosis def: "A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Macrovesicular steatosis" EXACT [] xref: UMLS:C1837256 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001404 name: Hepatocellular necrosis synonym: "Death of liver cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hepatocellular loss" EXACT [] xref: UMLS:C1855038 is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0001405 name: Periportal fibrosis def: "The presence of fibrosis affecting the interlobular stroma of liver." [https://orcid.org/0000-0002-0736-9199] comment: Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. xref: UMLS:C1849766 is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0001406 name: Intrahepatic cholestasis def: "Impairment of bile flow due to obstruction in the small bile ducts within the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Impaired release of bile from liver" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:4637005 xref: UMLS:C0008372 is_a: HP:0001396 ! Cholestasis is_a: HP:0031865 ! Abnormal liver physiology [Term] id: HP:0001407 name: Hepatic cysts synonym: "Liver cysts" EXACT layperson [] xref: SNOMEDCT_US:85057007 xref: UMLS:C0267834 is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0001408 name: Bile duct proliferation def: "Proliferative changes of the bile ducts." [https://orcid.org/0000-0002-0736-9199] synonym: "Proliferation of bile canaliculi" EXACT [] xref: SNOMEDCT_US:20239009 xref: UMLS:C0267818 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0001409 name: Portal hypertension def: "Increased pressure in the portal vein." [https://orcid.org/0000-0002-0736-9199] comment: Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg. xref: SNOMEDCT_US:34742003 xref: UMLS:C0020541 is_a: HP:0006707 ! Abnormality of the hepatic vasculature is_a: HP:0032263 ! Increased blood pressure [Term] id: HP:0001410 name: Decreased liver function alt_id: HP:0004393 alt_id: HP:0005228 alt_id: HP:0006570 def: "Reduced ability of the liver to perform its functions." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased liver function" EXACT layperson [] synonym: "Hepatopathy" RELATED [] synonym: "Liver dysfunction" EXACT layperson [] synonym: "Liver dysfunction, mild" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:75183008 xref: SNOMEDCT_US:77981007 xref: UMLS:C0086565 xref: UMLS:C0232744 xref: UMLS:C3279149 is_a: HP:0025155 ! Abnormal hepatobiliary system physiology [Term] id: HP:0001412 name: Enteroviral hepatitis def: "Inflammation of the liver due to infection with enterovirus." [PMID:15056237] xref: UMLS:C1843995 is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0001413 name: Micronodular cirrhosis def: "A type of cirrhosis characterized by the presence of small regenerative nodules." [https://orcid.org/0000-0002-0736-9199] comment: In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy. xref: SNOMEDCT_US:21861000 xref: UMLS:C0267812 is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0001414 name: Microvesicular hepatic steatosis def: "A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by liver biopsy. synonym: "Microvesicular steatosis" EXACT [] xref: UMLS:C1850415 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001417 name: X-linked inheritance alt_id: HP:0001418 def: "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [https://orcid.org/0000-0002-0736-9199] synonym: "monoallelic_X_hemizygous" EXACT [] synonym: "X-linked" EXACT [] synonym: "X-linked form" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:263934009 xref: UMLS:C0241764 is_a: HP:0034345 ! Mendelian inheritance [Term] id: HP:0001419 name: X-linked recessive inheritance def: "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [https://orcid.org/0000-0002-0736-9199] synonym: "X-linked recessive" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1845977 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001421 name: Abnormality of the musculature of the hand synonym: "Abnormal hand muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025786 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:59:00Z [Term] id: HP:0001423 name: X-linked dominant inheritance def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [https://orcid.org/0000-0002-0736-9199] synonym: "X-linked dominant" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1847879 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001425 name: obsolete Heterogeneous synonym: "Genetic heterogeneity" EXACT [] is_obsolete: true replaced_by: HP:0000005 [Term] id: HP:0001426 name: Non-Mendelian inheritance alt_id: HP:0001429 alt_id: HP:0001472 def: "A mode of inheritance that depends on genetic determinants in more than one gene." [https://orcid.org/0000-0002-0736-9199] comment: The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two. synonym: "Familial predisposition" RELATED [] xref: UMLS:C0600599 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001427 name: Mitochondrial inheritance alt_id: HP:0001431 alt_id: HP:0001458 alt_id: HP:0001506 def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [https://orcid.org/0000-0002-0736-9199] synonym: "Mitochondrial" EXACT [] synonym: "mitochondrial" EXACT HP:0034334 [] xref: UMLS:C0887941 is_a: HP:0034345 ! Mendelian inheritance [Term] id: HP:0001428 name: obsolete Somatic mutation is_obsolete: true replaced_by: HP:0001442 [Term] id: HP:0001430 name: Abnormal calf musculature morphology alt_id: HP:0004300 synonym: "Abnormal calf muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of calf musculature" EXACT [] xref: UMLS:C4021779 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:18:00Z [Term] id: HP:0001433 name: Hepatosplenomegaly def: "Simultaneous enlargement of the liver and spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged liver and spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:36760000 xref: UMLS:C0019214 is_a: HP:0001744 ! Splenomegaly is_a: HP:0002240 ! Hepatomegaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T10:51:00Z [Term] id: HP:0001435 name: Abnormality of the shoulder girdle musculature alt_id: HP:0004301 synonym: "Abnormality of shoulder musculature" EXACT layperson [] xref: UMLS:C4021778 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:19:00Z [Term] id: HP:0001436 name: Abnormality of the foot musculature def: "An anomaly of the musculature of foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal foot muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025785 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001437 name: Abnormality of the musculature of the lower limbs xref: UMLS:C4025784 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001438 name: Abnormal abdomen morphology def: "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [https://orcid.org/0000-0002-0736-9199] synonym: "Abdomen abnormality" RELATED layperson [] synonym: "Abnormality of abdomen morphology" EXACT [] synonym: "Abnormality of abdomen structure" EXACT layperson [] synonym: "Abnormality of the abdomen" EXACT [] xref: UMLS:C4020869 is_a: HP:0025031 ! Abnormality of the digestive system [Term] id: HP:0001440 name: Metatarsal synostosis alt_id: HP:0004705 alt_id: HP:0008098 synonym: "Fusion of metatarsals" EXACT [] synonym: "Fusion of the long bones of the feet" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Synostosis involving metatarsal bones" EXACT [] xref: UMLS:C1862697 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:36:00Z [Term] id: HP:0001441 name: Abnormality thigh musculature morphology synonym: "Abnormal thigh muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the musculature of the thigh" EXACT [] xref: UMLS:C4025783 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:27:00Z [Term] id: HP:0001442 name: Typified by somatic mosaicism alt_id: HP:0001428 alt_id: HP:0001444 def: "Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic." [https://orcid.org/0000-0002-0736-9199, PMID:12360233] comment: A much lower variant allele fraction (VAF) cutoff would be needed in genomic analysis pipelines as compared with the threshold required for constitutional variants. synonym: "Autosomal dominant somatic cell mutation" EXACT [] synonym: "Somatic mosaicism" EXACT [] synonym: "Somatic mutation" EXACT [] xref: UMLS:C1866227 is_a: HP:0034335 ! Inheritance qualifier [Term] id: HP:0001443 name: Abnormality of the gluteal musculature synonym: "Abnormality of glutes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025782 is_a: HP:0001469 ! Abnormal morphology of the pelvis musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001444 name: obsolete Autosomal dominant somatic cell mutation is_obsolete: true replaced_by: HP:0001442 [Term] id: HP:0001445 name: Abnormality of the hip-girdle musculature xref: UMLS:C4025780 is_a: HP:0001469 ! Abnormal morphology of the pelvis musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001446 name: Abnormality of the musculature of the upper limbs synonym: "Abnormal upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025779 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:40:00Z [Term] id: HP:0001449 name: Duplication of metatarsal bones synonym: "Duplication of long bones of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025778 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009136 ! Duplication involving bones of the feet property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:37:00Z [Term] id: HP:0001450 name: Y-linked inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [https://orcid.org/0000-0002-0736-9199] synonym: "monoallelic_Y_hemizygous" EXACT HP:0034334 [] synonym: "Y-linked" EXACT [] xref: UMLS:C0814045 is_a: HP:0034345 ! Mendelian inheritance [Term] id: HP:0001452 name: obsolete Autosomal dominant contiguous gene syndrome is_obsolete: true replaced_by: HP:0000006 [Term] id: HP:0001454 name: Abnormality of the upper arm xref: UMLS:C4025776 is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:41:00Z [Term] id: HP:0001457 name: Abnormality of the musculature of the upper arm xref: UMLS:C4025775 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0001454 ! Abnormality of the upper arm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:42:00Z [Term] id: HP:0001459 name: 1-3 toe syndactyly def: "Syndactyly with fusion of toes one to three." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 1st-3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025774 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0001460 name: Aplasia/Hypoplasia involving the skeletal musculature def: "Absence or underdevelopment of the musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small skeletal muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped skeletal muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025773 is_a: HP:0030236 ! Abnormality of muscle size property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:46:00Z [Term] id: HP:0001464 name: Aplasia/Hypoplasia involving the shoulder musculature def: "Absence or underdevelopment of the muscles of the shoulder." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025772 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:49:00Z [Term] id: HP:0001465 name: Amyotrophy involving the shoulder musculature synonym: "Shoulder muscle degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Wasting of shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025771 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:50:00Z [Term] id: HP:0001466 name: Contiguous gene syndrome def: "A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes" [] comment: Examples of contiguous gene synmdromes include Prader-Willi syndrome, Angelman syndrome, and Williams syndrome. xref: UMLS:C1855496 is_a: HP:0034335 ! Inheritance qualifier [Term] id: HP:0001467 name: Aplasia/Hypoplasia involving the musculature of the upper limbs def: "Absence or underdevelopment of the musculature of the upper limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025770 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:51:00Z [Term] id: HP:0001468 name: Aplasia/Hypoplasia involving the musculature of the upper arm def: "Absence or underdevelopment of the muscles of the upper arm." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small upper arm muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped upper arm muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025769 is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:52:00Z [Term] id: HP:0001469 name: Abnormal morphology of the pelvis musculature synonym: "Abnormality of the musculature of the pelvis" EXACT [] xref: UMLS:C4025768 is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:55:00Z [Term] id: HP:0001470 name: Sex-limited expression def: "Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex." [] xref: UMLS:C4025767 is_a: HP:0034335 ! Inheritance qualifier [Term] id: HP:0001471 name: Aplasia/Hypoplasia of the musculature of the pelvis synonym: "Absent/small pelvis muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped pelvis muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025766 is_a: HP:0001469 ! Abnormal morphology of the pelvis musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:56:00Z [Term] id: HP:0001472 name: obsolete Familial predisposition is_obsolete: true replaced_by: HP:0001426 [Term] id: HP:0001473 name: Metatarsal osteolysis alt_id: HP:0001866 def: "Osteolysis involving metatarsal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Osteolysis involving metatarsal bones" EXACT [] xref: UMLS:C1854614 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009134 ! Osteolysis involving bones of the feet property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:38:00Z [Term] id: HP:0001474 name: Sclerotic scapulae def: "Increased density of the bony tissue of the scapula." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1849263 is_a: HP:0000782 ! Abnormal scapula morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0001475 name: Male-limited expression def: "Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex." [] xref: UMLS:C4025764 is_a: HP:0001470 ! Sex-limited expression [Term] id: HP:0001476 name: Delayed closure of the anterior fontanelle def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed closure anterior fontanel" EXACT [] synonym: "Delayed closure of anterior fontanelle" EXACT [] synonym: "Delayed closure of the bregma sutures" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed closure of the soft spot on the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of anterior fontanelle" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of large anterior fontanel" EXACT [] synonym: "Late closure of soft spot on the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of the bregma sutures" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Later than typical closing of soft spot of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Persistent anterior fontanelle" EXACT [] xref: SNOMEDCT_US:295091000119100 xref: UMLS:C3840083 xref: UMLS:C4072831 is_a: HP:0000236 ! Abnormal anterior fontanelle morphology is_a: HP:0000270 ! Delayed cranial suture closure [Term] id: HP:0001477 name: Compensatory chin elevation def: "A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement." [https://orcid.org/0000-0002-0736-9199] synonym: "Compensatory head tilt/chin elevation" EXACT [] xref: UMLS:C1846911 is_a: HP:0031705 ! Compensatory head posture [Term] id: HP:0001480 name: Freckling def: "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] synonym: "Freckling" EXACT layperson [] xref: SNOMEDCT_US:403536009 xref: SNOMEDCT_US:699225003 xref: UMLS:C0016689 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001482 name: Subcutaneous nodule alt_id: HP:0005903 def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [https://orcid.org/0000-0002-0736-9199] comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. subset: hposlim_core synonym: "Firm lump under the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Growth of abnormal tissue under the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Multiple, subcutaneous nodules" RELATED [] synonym: "Nodule below the skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subcutaneous nodules" RELATED plural_form [] xref: SNOMEDCT_US:95325000 xref: UMLS:C0151811 xref: UMLS:C0746926 is_a: HP:0200036 ! Skin nodule [Term] id: HP:0001483 name: Eye poking def: "Repetitive pressing, poking, and/or rubbing in the eyes." [PMID:8157154] comment: Eye poking is usually observed in children with an intellectual and visual handicap. synonym: "Blindism" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Eye pressing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Ocular auto-stimulation" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Oculodigital phenomenon" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:78894008 xref: UMLS:C0233593 is_a: HP:0100716 ! Self-injurious behavior is_a: HP:5200017 ! Stereotypic movements of face and head is_a: HP:5200065 ! Tactile sensory seeking property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001487 name: obsolete Hypopigmented fundi is_obsolete: true replaced_by: HP:0007894 [Term] id: HP:0001488 name: Bilateral ptosis synonym: "Drooping of both upper eyelids" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1865916 is_a: HP:0000508 ! Ptosis [Term] id: HP:0001489 name: Posterior vitreous detachment def: "Separation of the vitreous humor from the retina." [https://orcid.org/0000-0002-0736-9199, PMID:24376338] comment: The vitreous humor is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. synonym: "Vitreous detachment" EXACT [] xref: SNOMEDCT_US:247081001 xref: UMLS:C0423361 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0001491 name: Congenital fibrosis of extraocular muscles def: "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "CFEOM" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "Congenital fibrosis of the extraocular muscles" EXACT [] synonym: "Congenital ophthalmoplegia" EXACT [http://www.omim.org/entry/135700, https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:400946004 xref: UMLS:C1302995 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0001492 name: Axenfeld anomaly def: "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:204152008 xref: UMLS:C0266548 is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0001493 name: Falciform retinal fold alt_id: HP:0008013 def: "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital retinal fold" EXACT [] xref: SNOMEDCT_US:204181009 xref: UMLS:C0344550 is_a: HP:0008052 ! Retinal fold [Term] id: HP:0001495 name: Carpal osteolysis def: "Osteolysis affecting carpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Carpal bone osteolysis" EXACT [] xref: UMLS:C1833734 is_a: HP:0001191 ! Abnormal carpal morphology is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs [Term] id: HP:0001498 name: Carpal bone hypoplasia alt_id: HP:0001209 alt_id: HP:0006029 alt_id: HP:0006072 alt_id: HP:0006117 alt_id: HP:0006130 alt_id: HP:0006227 def: "Underdevelopment of one or more carpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplasia of carpal bones" EXACT [] synonym: "Hypoplastic carpal bones" EXACT [] synonym: "Small carpal bones" EXACT layperson [] synonym: "Small carpals" EXACT layperson [] synonym: "Small wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1863749 xref: UMLS:C4280594 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0001500 name: Broad finger alt_id: HP:0001497 def: "Increased width of a non-thumb digit of the hand." [PMID:19125433] comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". subset: hposlim_core synonym: "Broad finger" EXACT layperson [] synonym: "Broad fingers" EXACT layperson [] synonym: "Wide fingers" EXACT layperson [] xref: UMLS:C1844906 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001501 name: 6 metacarpals synonym: "6 long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861360 is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0001504 name: Metacarpal osteolysis synonym: "Metacarpals osteolysis" EXACT [] xref: UMLS:C1854610 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs [Term] id: HP:0001507 name: Growth abnormality alt_id: HP:0008904 synonym: "Abnormal growth" EXACT layperson [] synonym: "Growth abnormality" EXACT layperson [] synonym: "Growth issue" EXACT layperson [] xref: UMLS:C0262361 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001508 name: Failure to thrive alt_id: HP:0001535 alt_id: HP:0008853 alt_id: HP:0008878 alt_id: HP:0008916 def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [https://orcid.org/0000-0002-0736-9199] comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). synonym: "Faltering weight" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "FTT" EXACT abbreviation [] synonym: "Poor weight gain" RELATED layperson [] synonym: "Postnatal failure to thrive" EXACT [] synonym: "Undergrowth" BROAD layperson [] synonym: "Weight faltering" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:36440009 xref: SNOMEDCT_US:432788009 xref: UMLS:C0231246 xref: UMLS:C2315100 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001510 name: Growth delay alt_id: HP:0001434 alt_id: HP:0001512 alt_id: HP:0001514 alt_id: HP:0001517 alt_id: HP:0001532 alt_id: HP:0008847 alt_id: HP:0008870 alt_id: HP:0008886 alt_id: HP:0008893 alt_id: HP:0008926 def: "A deficiency or slowing down of growth pre- and postnatally." [https://orcid.org/0000-0002-0736-9199] comment: Poor or abnormally slow gains in weight or height in a child. synonym: "Delayed growth" EXACT layperson [] synonym: "Growth deficiency" EXACT layperson [] synonym: "Growth delay" EXACT layperson [] synonym: "Growth failure" EXACT layperson [] synonym: "Growth retardation" EXACT layperson [] synonym: "Poor growth" EXACT layperson [] synonym: "Retarded growth" EXACT layperson [] synonym: "Very poor growth" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:276617005 xref: SNOMEDCT_US:444896005 xref: SNOMEDCT_US:59576002 xref: UMLS:C0151686 xref: UMLS:C0456070 xref: UMLS:C0878787 xref: UMLS:C1837385 xref: UMLS:C3552463 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001511 name: Intrauterine growth retardation alt_id: HP:0001515 alt_id: HP:0008862 alt_id: HP:0008892 alt_id: HP:0008931 def: "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [https://orcid.org/0000-0002-0736-9199] comment: Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. synonym: "Fetal growth restriction" EXACT [] synonym: "FGR" EXACT abbreviation [] synonym: "In utero growth retardation" EXACT [] synonym: "Intrauterine growth failure" EXACT [] synonym: "Intrauterine growth restriction" EXACT [] synonym: "Intrauterine growth retardation, IUGR" EXACT [] synonym: "Intrauterine retardation" EXACT [] synonym: "IUGR" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "Prenatal growth deficiency" EXACT layperson [] synonym: "Prenatal growth failure" EXACT [] synonym: "Prenatal growth retardation" EXACT layperson [] synonym: "Prenatal onset growth retardation" EXACT [] synonym: "Prenatal-onset growth retardation" EXACT [] synonym: "Small for gestational age infant" EXACT [] xref: SNOMEDCT_US:199612005 xref: SNOMEDCT_US:22033007 xref: UMLS:C0015934 xref: UMLS:C0021296 xref: UMLS:C1386048 is_a: HP:0001510 ! Growth delay [Term] id: HP:0001513 name: Obesity def: "Accumulation of substantial excess body fat." [] synonym: "Having too much body fat" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Obesity" EXACT layperson [] xref: SNOMEDCT_US:414915002 xref: SNOMEDCT_US:414916001 xref: UMLS:C0028754 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001518 name: Small for gestational age alt_id: HP:0001422 alt_id: HP:0008849 alt_id: HP:0008919 alt_id: HP:0008927 def: "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [https://orcid.org/0000-0002-6410-0882] synonym: "Birth weight less than 10th percentile" EXACT layperson [] synonym: "Low birth weight" EXACT layperson [] synonym: "Small for gestational age" EXACT layperson [] xref: SNOMEDCT_US:267258002 xref: SNOMEDCT_US:276610007 xref: UMLS:C0024032 xref: UMLS:C0235991 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001519 name: Disproportionate tall stature alt_id: HP:0003511 alt_id: HP:0008864 def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6410-0882] synonym: "Dolichostenomelia" EXACT [] synonym: "Marfanoid body habitus" EXACT [] synonym: "Marfanoid habitus" EXACT [] synonym: "Reduced upper-lower segment ratio" EXACT [] xref: SNOMEDCT_US:62250003 xref: UMLS:C0003706 xref: UMLS:C1836996 is_a: HP:0000098 ! Tall stature [Term] id: HP:0001520 name: Large for gestational age alt_id: HP:0001825 def: "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, https://orcid.org/0000-0002-0736-9199] comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. synonym: "Birth weight > 90th percentile" EXACT layperson [] synonym: "Birthweight > 90th percentile" EXACT layperson [] synonym: "Fetal macrosomia" EXACT [] synonym: "Foetal macrosomia" EXACT uk_spelling [] synonym: "Macrosomia" EXACT [] synonym: "Macrosomia, neonatal" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1848395 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001522 name: Death in infancy alt_id: HP:0003816 alt_id: HP:0003817 alt_id: HP:0003818 alt_id: HP:0003823 alt_id: HP:0003827 def: "Death within the first 24 months of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Death in early childhood" RELATED layperson [] synonym: "Death in infancy" EXACT layperson [] synonym: "Infantile death" EXACT layperson [] synonym: "Lethal in infancy" EXACT layperson [] xref: UMLS:C1844947 xref: UMLS:C1858430 is_a: HP:0011420 ! Age of death [Term] id: HP:0001525 name: Severe failure to thrive alt_id: HP:0008876 synonym: "Marked failure to thrive" EXACT [] synonym: "Severe faltering weight" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Severe postnatal failure to thrive" EXACT [] synonym: "Severe weight faltering" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855514 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001528 name: Hemihypertrophy alt_id: HP:0006416 def: "Overgrowth of only one side of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Asymmetric limb hypertrophy" EXACT [] synonym: "Asymmetric overgrowth" EXACT layperson [] xref: SNOMEDCT_US:205838004 xref: SNOMEDCT_US:56007004 xref: UMLS:C0332890 is_a: HP:0040064 ! Abnormality of limbs is_a: HP:0100555 ! Asymmetric growth [Term] id: HP:0001530 name: Mild postnatal growth retardation alt_id: HP:0008860 alt_id: HP:0008917 def: "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms." [https://orcid.org/0000-0002-6410-0882] synonym: "Mild growth deficiency" RELATED layperson [] synonym: "Postnatal onset of mild growth retardation" EXACT [] xref: UMLS:C1835580 xref: UMLS:C3550204 is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0001531 name: Failure to thrive in infancy alt_id: HP:0008863 alt_id: HP:0008925 synonym: "Failure to thrive in first year of life" EXACT [] synonym: "Faltering weight in infancy" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Weight faltering in infancy" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1867873 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001533 name: Slender build alt_id: HP:0001529 def: "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [https://orcid.org/0000-0002-0736-9199] comment: Slender, long-limbed habitus. synonym: "Asthenic habitus" EXACT [] synonym: "Slender build" EXACT layperson [] synonym: "Thin body habitus" EXACT [] synonym: "Thin build" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1850573 is_a: HP:0000098 ! Tall stature is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001537 name: Umbilical hernia def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Umbilical hernias" EXACT [] xref: Fyler:4445 xref: SNOMEDCT_US:396347007 xref: UMLS:C0019322 is_a: HP:0001551 ! Abnormal umbilicus morphology is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001538 name: Protuberant abdomen def: "A thrusting or bulging out of the abdomen." [https://orcid.org/0000-0002-0736-9199] synonym: "Abdominal protuberance" EXACT [] synonym: "Belly sticks out" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Extended belly" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1854928 is_a: HP:0003270 ! Abdominal distention [Term] id: HP:0001539 name: Omphalocele def: "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Exomphalos" EXACT [] synonym: "Omphalocoele" EXACT [] xref: Fyler:4404 xref: MEDDRA:10030309 "Omphalocoele" xref: SNOMEDCT_US:18735004 xref: UMLS:C0795690 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001540 name: Diastasis recti def: "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)." [https://orcid.org/0000-0002-0736-9199] comment: Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns. subset: hposlim_core synonym: "Gap between large left and right abdominal muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:62629000 xref: UMLS:C0221766 is_a: HP:0010991 ! Abnormal morphology of the abdominal musculature [Term] id: HP:0001541 name: Ascites alt_id: HP:0030995 def: "Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen)." [https://orcid.org/0000-0002-0736-9199] comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. subset: hposlim_core synonym: "Accumulation of fluid in the abdomen" EXACT layperson [] synonym: "Peritoneal effusion" EXACT [] xref: SNOMEDCT_US:389026000 xref: UMLS:C0003962 is_a: HP:0001438 ! Abnormal abdomen morphology [Term] id: HP:0001543 name: Gastroschisis def: "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MEDDRA:10018046 "Gastroschisis" xref: SNOMEDCT_US:72951007 xref: UMLS:C0265706 is_a: HP:0010866 ! Abdominal wall defect [Term] id: HP:0001544 name: Prominent umbilicus def: "Abnormally prominent umbilicus (belly button)." [https://orcid.org/0000-0002-0736-9199] synonym: "Prominent belly button" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Prominent navel" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837795 is_a: HP:0001551 ! Abnormal umbilicus morphology [Term] id: HP:0001545 name: Anteriorly placed anus def: "Anterior malposition of the anus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Anteriorly displaced anus" EXACT [] synonym: "Anus anteposition" EXACT [] xref: UMLS:C1838705 is_a: HP:0004397 ! Ectopic anus [Term] id: HP:0001547 name: Abnormal rib cage morphology def: "A morphological anomaly of the rib cage." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the rib cage" EXACT layperson [] xref: UMLS:C4025763 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0001548 name: Overgrowth def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [https://orcid.org/0000-0002-0736-9199] synonym: "General overgrowth" EXACT layperson [] synonym: "Generalised overgrowth" RELATED uk_spelling [] synonym: "Generalized overgrowth" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1849265 xref: UMLS:C1851731 xref: UMLS:C3150281 is_a: HP:0000098 ! Tall stature [Term] id: HP:0001549 name: Abnormal ileum morphology synonym: "Abnormality of the ileum" EXACT [] xref: UMLS:C4025762 is_a: HP:0002244 ! Abnormal small intestine morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:05:00Z [Term] id: HP:0001551 name: Abnormal umbilicus morphology def: "An abnormality of the structure or appearance of the umbilicus." [https://orcid.org/0000-0002-0736-9199] comment: The umbilicus is also known as the belly button or the navel. synonym: "Abnormal belly button" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal navel" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal umbilicus" EXACT [] xref: UMLS:C1849338 is_a: HP:0004298 ! Abnormality of the abdominal wall [Term] id: HP:0001552 name: Barrel-shaped chest alt_id: HP:0000781 alt_id: HP:0001553 def: "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis." [https://orcid.org/0000-0002-0736-9199] comment: Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease. subset: hposlim_core synonym: "Barrel chest" EXACT layperson [] synonym: "Barrel-shaped chest" EXACT layperson [] xref: SNOMEDCT_US:24228002 xref: UMLS:C0264172 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0001555 name: Asymmetry of the thorax def: "Lack of symmetry between the left and right halves of the thorax." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetric chest" EXACT layperson [] xref: UMLS:C1858033 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0001557 name: Prenatal movement abnormality alt_id: HP:0007629 def: "An abnormality of fetal movement." [https://orcid.org/0000-0002-0736-9199] comment: Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. synonym: "Abnormal intrauterine movements" EXACT [] xref: UMLS:C1849510 is_a: HP:0034059 ! Abnormal fetal physiology [Term] id: HP:0001558 name: Decreased fetal movement alt_id: HP:0001559 alt_id: HP:0006840 alt_id: HP:0007630 alt_id: HP:0007631 def: "An abnormal reduction in quantity or strength of fetal movements." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased fetal activity" EXACT [] synonym: "Decreased fetal movements" EXACT [] synonym: "Decreased foetal activity" EXACT uk_spelling [] synonym: "Decreased foetal movement" EXACT uk_spelling [] synonym: "Decreased foetal movements" EXACT uk_spelling [] synonym: "Decreased movement in utero" EXACT [] synonym: "Dminished fetal movement" EXACT [] synonym: "Dminished foetal movement" EXACT uk_spelling [] synonym: "Fetal hypokinesia" EXACT [] synonym: "Foetal hypokinesia" EXACT uk_spelling [] synonym: "Less than 10 fetal movements in 12 hours" EXACT layperson [PMID:2729383] synonym: "Less than 10 foetal movements in 12 hours" EXACT uk_spelling [] synonym: "Reduced fetal movement" EXACT [] synonym: "Reduced fetal movements" EXACT [] synonym: "Reduced foetal movement" EXACT uk_spelling [] synonym: "Reduced foetal movements" EXACT uk_spelling [] xref: SNOMEDCT_US:276369006 xref: UMLS:C0235659 is_a: HP:0001557 ! Prenatal movement abnormality [Term] id: HP:0001560 name: Abnormality of the amniotic fluid def: "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal amniotic fluid" EXACT [] xref: SNOMEDCT_US:42170009 xref: UMLS:C0266781 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001561 name: Polyhydramnios alt_id: HP:0005098 def: "The presence of excess amniotic fluid in the uterus during pregnancy." [https://orcid.org/0000-0002-0736-9199] comment: Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. synonym: "High levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Hydramnios" EXACT [] synonym: "Increased amniotic fluid index" RELATED [] xref: SNOMEDCT_US:86203003 xref: UMLS:C0020224 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001562 name: Oligohydramnios alt_id: HP:0004638 def: "Diminished amniotic fluid volume in pregnancy." [https://orcid.org/0000-0002-0736-9199] comment: Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. synonym: "Decreased amniotic fluid index" RELATED [] synonym: "Low levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Maternal oligohydramnios" EXACT [] xref: SNOMEDCT_US:59566000 xref: UMLS:C0079924 xref: UMLS:C3550658 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001563 name: Fetal polyuria def: "Abnormally increased production of urine by the fetus resulting in polyhydramnios." [https://orcid.org/0000-0002-0736-9199, PMID:21460147] comment: The fetal urine production rate can be measured by ultrasonography. synonym: "Foetal polyuria" EXACT uk_spelling [] xref: UMLS:C1865279 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001566 name: Widely-spaced maxillary central incisors alt_id: HP:0000669 alt_id: HP:0001570 alt_id: HP:0006300 alt_id: HP:0006324 def: "Increased distance between the maxillary central permanent incisor tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Central incisor gap" BROAD layperson [] synonym: "Diastasis of the central incisors" EXACT [] synonym: "Diastema between maxillary central incisors" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Diastema between upper front teeth" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Diastema between upper incisors" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Gap between upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Separated superior central incisors" EXACT [] synonym: "Wide gap between upper central incisors" EXACT layperson [] synonym: "Wide upper central incisors" EXACT [] synonym: "Widely spaced upper incisors" EXACT layperson [] xref: UMLS:C1835762 xref: UMLS:C1845110 xref: UMLS:C4280252 is_a: HP:0006304 ! Widely-spaced incisors [Term] id: HP:0001571 name: Multiple impacted teeth def: "The presence of multiple impacted teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Impacted teeth" EXACT layperson [] synonym: "Multiple buried teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple impacted teeth" EXACT layperson [] synonym: "Multiple retained teeth" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839965 xref: UMLS:C4280593 is_a: HP:0011079 ! Impacted tooth [Term] id: HP:0001572 name: Macrodontia def: "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [https://orcid.org/0000-0002-9338-3017, PMID:19125428] comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. subset: hposlim_core synonym: "Hyperplasia of tooth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of tooth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large tooth" EXACT layperson [] synonym: "Megalodontia" EXACT [] synonym: "Tooth mass excess" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:71485000 xref: UMLS:C0266036 xref: UMLS:C4280590 xref: UMLS:C4280591 xref: UMLS:C4280592 is_a: HP:0006482 ! Abnormal dental morphology [Term] id: HP:0001574 name: Abnormality of the integument def: "An abnormality of the integument, which consists of the skin and the superficial fascia." [https://orcid.org/0000-0002-0736-9199] comment: Abnormality of skin, hair, or nails. xref: UMLS:C4025761 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001575 name: obsolete Mood changes is_obsolete: true replaced_by: HP:0000712 [Term] id: HP:0001579 name: Primary hypercortisolism def: "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol." [https://orcid.org/0000-0002-0736-9199] synonym: "ACTH-independent hypercortisolemia" RELATED [] xref: UMLS:C1968852 xref: UMLS:C4025760 is_a: HP:0003118 ! Increased circulating cortisol level [Term] id: HP:0001580 name: Pigmented micronodular adrenocortical disease xref: UMLS:C1968851 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0001581 name: Recurrent skin infections alt_id: HP:0007563 def: "Infections of the skin that happen multiple times." [https://orcid.org/0000-0002-0736-9199] synonym: "Cutaneous infections" EXACT [] synonym: "Recurrent skin infections" EXACT layperson [] synonym: "Skin infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1853193 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001582 name: Redundant skin alt_id: HP:0007391 def: "Loose and sagging skin often associated with loss of skin elasticity." [https://orcid.org/0000-0002-0736-9199] synonym: "Loose redundant skin" EXACT layperson [] synonym: "Redundant skin folds" EXACT layperson [] synonym: "Sagging, redundant skin" EXACT layperson [] xref: SNOMEDCT_US:201093004 xref: UMLS:C0581342 is_a: HP:0000973 ! Cutis laxa [Term] id: HP:0001583 name: Rotary nystagmus def: "A form of nystagmus in which the eyeball makes rotary motions around the axis." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Rotatory Nystagmus" EXACT [] xref: SNOMEDCT_US:44526006 xref: SNOMEDCT_US:95783006 xref: UMLS:C0240595 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001586 name: Vesicovaginal fistula def: "The presence of a fistula connecting the urinary bladder to the vagina." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:89405008 xref: UMLS:C0042582 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0004321 ! Bladder fistula [Term] id: HP:0001587 name: obsolete Primary ovarian failure is_obsolete: true [Term] id: HP:0001591 name: Bell-shaped thorax alt_id: HP:0006626 alt_id: HP:0006664 def: "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." [https://orcid.org/0000-0002-0736-9199] comment: A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. subset: hposlim_core synonym: "Bell-shaped chest" EXACT [] synonym: "Constricted, bell-shaped thorax" EXACT [] synonym: "Narrow, bell-shaped thorax" EXACT [] xref: UMLS:C1865186 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0001592 name: Selective tooth agenesis def: "Agenesis specifically affecting one of the classes incisor, premolar, or molar." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of a tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of a tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of a tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing a tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1970308 xref: UMLS:C4280251 is_a: HP:0009804 ! Tooth agenesis [Term] id: HP:0001593 name: Maxillary lateral incisor microdontia def: "Decreased size of the maxillary permanent incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Decreased size of maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of upper lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Small maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Small upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845111 xref: UMLS:C4280588 xref: UMLS:C4280589 is_a: HP:0000691 ! Microdontia is_a: HP:0011063 ! Abnormal incisor morphology [Term] id: HP:0001595 name: Abnormal hair morphology def: "An abnormality of the hair." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the hair" EXACT layperson [] synonym: "Abnormality of the hair shaft" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hair abnormality" EXACT layperson [] xref: UMLS:C0157733 xref: UMLS:C2677869 is_a: HP:0011138 ! Abnormal skin adnexa morphology [Term] id: HP:0001596 name: Alopecia alt_id: HP:0002238 alt_id: HP:0008068 def: "A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077] subset: hposlim_core synonym: "Hair loss" EXACT layperson [] xref: MEDDRA:10001760 "Alopecia" xref: SNOMEDCT_US:278040002 xref: SNOMEDCT_US:56317004 xref: UMLS:C0002170 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001597 name: Abnormal nail morphology def: "Abnormal structure or appearance of the nail." [https://orcid.org/0000-0002-0736-9199] comment: Abnormality of the fingernails and/or toenails. synonym: "Abnormality of the nail" EXACT layperson [] synonym: "Nail disease" RELATED layperson [] xref: SNOMEDCT_US:17790008 xref: UMLS:C0027339 xref: UMLS:C0853087 is_a: HP:0011138 ! Abnormal skin adnexa morphology [Term] id: HP:0001598 name: Concave nail alt_id: HP:0001815 def: "The natural longitudinal (posterodistal) convex arch is not present or is inverted." [PMID:19125433] comment: Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. subset: hposlim_core synonym: "Koilonychia" EXACT [] synonym: "Spoon-shaped nails" EXACT layperson [] xref: SNOMEDCT_US:66270006 xref: UMLS:C0221261 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001600 name: Abnormality of the larynx def: "An abnormality of the larynx." [https://orcid.org/0000-0002-0736-9199] synonym: "Laryngeal abnormalities" EXACT [] synonym: "Laryngeal anomalies" EXACT [] xref: UMLS:C4021777 is_a: HP:0002087 ! Abnormality of the upper respiratory tract [Term] id: HP:0001601 name: Laryngomalacia def: "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [https://orcid.org/0000-0002-0736-9199] comment: Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. synonym: "Softening of voice box tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:38086007 xref: UMLS:C0264303 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001602 name: Laryngeal stenosis def: "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:75547007 xref: UMLS:C0023075 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001604 name: Vocal cord paresis alt_id: HP:0001603 alt_id: HP:0001616 alt_id: HP:0008745 def: "Decreased strength of the vocal folds." [https://orcid.org/0000-0002-0736-9199] comment: Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat. synonym: "Hoarse voice due to vocal cord paresis" EXACT [] synonym: "Vocal cord paresis in severe cases" EXACT [] synonym: "Weakness of the vocal cords" EXACT layperson [] xref: SNOMEDCT_US:302912005 xref: SNOMEDCT_US:445424004 xref: UMLS:C0751576 xref: UMLS:C1832690 xref: UMLS:C1843187 xref: UMLS:C1853729 is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0001605 name: Vocal cord paralysis alt_id: HP:0001606 alt_id: HP:0006847 def: "A loss of the ability to move the vocal folds." [https://orcid.org/0000-0002-0736-9199] comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. synonym: "Inability to move vocal cords" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Laryngeal paralysis" EXACT [] xref: SNOMEDCT_US:302912005 xref: UMLS:C0042928 xref: UMLS:C1854345 is_a: HP:0003470 ! Paralysis is_a: HP:0031801 ! Vocal cord dysfunction [Term] id: HP:0001606 name: obsolete Vocal cord paralysis (caused by tumor impingement) is_obsolete: true replaced_by: HP:0001605 [Term] id: HP:0001607 name: Subglottic stenosis xref: SNOMEDCT_US:22668006 xref: UMLS:C0238441 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001608 name: Abnormality of the voice comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. synonym: "Abnormality of the voice" EXACT layperson [] synonym: "Voice abnormality" EXACT layperson [] xref: UMLS:C4021776 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001609 name: Hoarse voice alt_id: HP:0001613 alt_id: HP:0001619 def: "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [https://orcid.org/0000-0002-0736-9199] synonym: "Hoarse voice" EXACT layperson [] synonym: "Hoarseness" EXACT layperson [] synonym: "Husky voice" EXACT layperson [] xref: SNOMEDCT_US:50219008 xref: UMLS:C0019825 xref: UMLS:C1854348 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001611 name: Hypernasal speech alt_id: HP:0001614 def: "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages." [] comment: May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. synonym: "Hypernasal voice" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Nasal speech" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Nasal voice" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:229645001 xref: SNOMEDCT_US:289190003 xref: UMLS:C0454555 xref: UMLS:C0566620 is_a: HP:0001608 ! Abnormality of the voice property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001612 name: Weak cry xref: SNOMEDCT_US:2120003 xref: UMLS:C0234860 is_a: HP:0025429 ! Abnormal cry [Term] id: HP:0001613 name: obsolete Hoarse voice (caused by tumor impingement) is_obsolete: true replaced_by: HP:0001609 [Term] id: HP:0001615 name: Hoarse cry synonym: "Hoarse cry" EXACT layperson [] xref: UMLS:C2678303 is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001618 name: Dysphonia def: "Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause." [] synonym: "Inability to produce voice sounds" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Voice change" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:47004009 xref: UMLS:C1527344 is_a: HP:0001608 ! Abnormality of the voice property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001620 name: Abnormally high-pitched voice alt_id: HP:0001610 alt_id: HP:0008374 alt_id: HP:0008377 alt_id: HP:0008378 alt_id: HP:0008379 alt_id: HP:0009146 def: "A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual." [] synonym: "High pitched voice" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "High-pitched voice" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:51406002 xref: UMLS:C0241703 is_a: HP:5200005 ! Abnormal pitch property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001621 name: Weak voice def: "Reduced intensity (volume) of speech." [https://orcid.org/0000-0002-0736-9199] comment: Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization. synonym: "Hypophonia" RELATED [] synonym: "Quiet voice" EXACT [] synonym: "Soft voice" EXACT layperson [] synonym: "Weak voice" EXACT layperson [] xref: SNOMEDCT_US:34527004 xref: SNOMEDCT_US:8614008 xref: UMLS:C0241700 xref: UMLS:C0521007 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001622 name: Premature birth def: "The birth of a baby of less than 37 weeks of gestational age." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature birth" EXACT layperson [] synonym: "Premature delivery" EXACT [] synonym: "Premature delivery of affected infants" EXACT layperson [] synonym: "Preterm birth" EXACT [] synonym: "Preterm delivery" EXACT layperson [] synonym: "Shortened gestation time" EXACT [] xref: SNOMEDCT_US:282020008 xref: SNOMEDCT_US:367494004 xref: SNOMEDCT_US:49550006 xref: UMLS:C0151526 xref: UMLS:C0233315 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001623 name: Breech presentation def: "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [https://orcid.org/0000-0002-0736-9199] synonym: "Breech presentation at birth" EXACT [] synonym: "Feet or buttocks of fetus positioned near opening of uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Feet or buttocks of foetus positioned near opening of uterus" EXACT uk_spelling [] xref: SNOMEDCT_US:249101006 xref: SNOMEDCT_US:6096002 xref: UMLS:C0006157 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001626 name: Abnormality of the cardiovascular system alt_id: HP:0003116 def: "Any abnormality of the cardiovascular system." [https://orcid.org/0000-0002-0736-9199] comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system. synonym: "Abnormality of the cardiovascular system" EXACT layperson [] synonym: "Cardiovascular abnormality" EXACT layperson [] synonym: "Cardiovascular disease" RELATED layperson [] xref: SNOMEDCT_US:49601007 xref: UMLS:C0007222 xref: UMLS:C0243050 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001627 name: Abnormal heart morphology alt_id: HP:3000001 def: "Any structural anomaly of the heart." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cardiac morphology" EXACT [] synonym: "Abnormality of the heart" EXACT layperson [] synonym: "Abnormally shaped heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cardiac abnormality" EXACT [] synonym: "Cardiac anomalies" EXACT [] synonym: "Cardiac anomaly" EXACT [] synonym: "Congenital heart defect" EXACT [] synonym: "Congenital heart defects" EXACT [] synonym: "Heart defect" EXACT layperson [] xref: SNOMEDCT_US:13213009 xref: UMLS:C0018798 xref: UMLS:C0152021 is_a: HP:0030680 ! Abnormal cardiovascular system morphology [Term] id: HP:0001629 name: Ventricular septal defect alt_id: HP:0001652 def: "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [https://orcid.org/0000-0002-0736-9199, PMID:33327983] synonym: "Hole in heart wall separating two lower heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Ventricular septal defects" EXACT [] synonym: "Ventriculoseptal defect" EXACT [] synonym: "VSD" EXACT abbreviation [] xref: Fyler:1300 xref: SNOMEDCT_US:253549006 xref: SNOMEDCT_US:30288003 xref: UMLS:C0018818 is_a: HP:0010438 ! Abnormal ventricular septum morphology [Term] id: HP:0001631 name: Atrial septal defect alt_id: HP:0001630 def: "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "An opening in the wall separating the top two chambers of the heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "ASD" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "Atria septal defect" EXACT [] synonym: "Atrial septum defect" EXACT [] synonym: "Atrioseptal defect" EXACT [] synonym: "Defect in the atrial septum" EXACT [] synonym: "Hole in heart wall separating two upper heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: Fyler:2050 xref: ICD-10:Q21.1 xref: SNOMEDCT_US:253366007 xref: SNOMEDCT_US:405752007 xref: SNOMEDCT_US:70142008 xref: UMLS:C0018817 is_a: HP:0005120 ! Abnormal cardiac atrium morphology is_a: HP:0011994 ! Abnormal atrial septum morphology [Term] id: HP:0001633 name: Abnormal mitral valve morphology alt_id: HP:0031477 def: "Any structural anomaly of the mitral valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the mitral valve" EXACT [] xref: UMLS:C4025759 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology [Term] id: HP:0001634 name: Mitral valve prolapse def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [https://orcid.org/0000-0002-0736-9199] comment: Mitral valve prolapse can be associated with mitral regurgitation. xref: Fyler:1533 xref: SNOMEDCT_US:409712001 xref: SNOMEDCT_US:8074002 xref: UMLS:C0026267 is_a: HP:0001633 ! Abnormal mitral valve morphology [Term] id: HP:0001635 name: Congestive heart failure alt_id: HP:0006686 def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [https://orcid.org/0000-0002-0736-9199] synonym: "Cardiac failure" EXACT layperson [] synonym: "Cardiac failures" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Cardiac insufficiency" EXACT [] synonym: "CHF" EXACT abbreviation [] synonym: "Chronic heart failure" EXACT [] synonym: "Heart failure" EXACT layperson [] xref: SNOMEDCT_US:42343007 xref: SNOMEDCT_US:84114007 xref: UMLS:C0018801 xref: UMLS:C0018802 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0001636 name: Tetralogy of Fallot def: "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [https://orcid.org/0000-0002-0736-9199] synonym: "Tetrology of fallot" EXACT [] xref: ICD-10:Q21.3 xref: SNOMEDCT_US:86299006 xref: UMLS:C0039685 is_a: HP:0001710 ! Conotruncal defect [Term] id: HP:0001637 name: Abnormal myocardium morphology def: "A structural anomaly of the muscle layer of the heart wall." [] synonym: "Abnormality of the myocardium" EXACT [] xref: UMLS:C4025758 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001638 name: Cardiomyopathy def: "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [https://orcid.org/0000-0002-0736-9199, PMID:17916581] synonym: "Disease of the heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:1840 xref: SNOMEDCT_US:57809008 xref: SNOMEDCT_US:85898001 xref: UMLS:C0878544 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001639 name: Hypertrophic cardiomyopathy def: "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality." [PMID:17916581] synonym: "Cardiomyopathy, hypertrophic" EXACT [] synonym: "Enlarged and thickened heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "HCM" EXACT abbreviation [] xref: SNOMEDCT_US:233873004 xref: SNOMEDCT_US:45227007 xref: UMLS:C0007194 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001640 name: Cardiomegaly def: "Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography." [https://orcid.org/0000-0002-0736-9199, PMID:31194436] synonym: "Enlarged heart" EXACT layperson [] synonym: "Increased heart size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:8186001 xref: UMLS:C0018800 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001641 name: Abnormal pulmonary valve morphology def: "Any structural abnormality of the pulmonary valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pulmonary valve" EXACT [] synonym: "Anomaly of the pulmonary valve" EXACT [] xref: Fyler:1600 xref: Fyler:1602 xref: SNOMEDCT_US:448643005 xref: UMLS:C3164374 is_a: HP:0001654 ! Abnormal heart valve morphology [Term] id: HP:0001642 name: Pulmonic stenosis def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis)." [https://orcid.org/0000-0002-0736-9199] comment: Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. synonym: "Narrowing of pulmonic valve" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] xref: Fyler:1611 xref: SNOMEDCT_US:56786000 xref: UMLS:C1956257 is_a: HP:0031654 ! Abnormal pulmonary valve physiology [Term] id: HP:0001643 name: Patent ductus arteriosus def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [https://orcid.org/0000-0002-0736-9199, PMID:20421261] synonym: "Ductus arteriosus" EXACT [] synonym: "Patent ductus Botalli" EXACT [] synonym: "PDA" EXACT abbreviation [] synonym: "Persistent arterial duct" EXACT [] synonym: "Persistent ductus arteriosus" EXACT [] xref: Fyler:2100 xref: SNOMEDCT_US:83330001 xref: UMLS:C0013274 is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001644 name: Dilated cardiomyopathy alt_id: HP:0001725 alt_id: HP:0005159 alt_id: HP:0200130 def: "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [PMID:17916581] synonym: "Cardiomyopathy, dilated" EXACT [] synonym: "Congestive cardiomyopathy" EXACT [] synonym: "DCM" EXACT abbreviation [] synonym: "Stretched and thinned heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:1843 xref: SNOMEDCT_US:195021004 xref: SNOMEDCT_US:399020009 xref: UMLS:C0007193 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001645 name: Sudden cardiac death alt_id: HP:0005161 def: "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature sudden cardiac death" EXACT layperson [] synonym: "Sudden cardiac death" EXACT layperson [] xref: SNOMEDCT_US:95281009 xref: UMLS:C0085298 is_a: HP:0001695 ! Cardiac arrest is_a: HP:0001699 ! Sudden death [Term] id: HP:0001646 name: Abnormal aortic valve morphology def: "Any abnormality of the aortic valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the aortic valve" EXACT [] xref: Fyler:1400 xref: Fyler:1408 xref: SNOMEDCT_US:448743001 xref: UMLS:C3164445 is_a: HP:0001654 ! Abnormal heart valve morphology [Term] id: HP:0001647 name: Bicuspid aortic valve def: "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)." [https://orcid.org/0000-0002-0736-9199, PMID:17467434, PMID:24827036] comment: A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. synonym: "Aortic valve has two leaflets rather than three" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:72352009 xref: UMLS:C0149630 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology [Term] id: HP:0001648 name: Cor pulmonale def: "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle." [https://orcid.org/0000-0002-0736-9199] comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. xref: SNOMEDCT_US:274096000 xref: SNOMEDCT_US:83291003 xref: UMLS:C0034072 is_a: HP:0001707 ! Abnormal right ventricle morphology [Term] id: HP:0001649 name: Tachycardia alt_id: HP:0001673 alt_id: HP:0001720 def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated heart rate" RELATED layperson [] synonym: "Fast heart rate" EXACT layperson [] synonym: "Heart racing" EXACT layperson [] synonym: "Increased heart rate" RELATED layperson [] synonym: "Racing heart" EXACT layperson [] synonym: "Rapid heart beat" RELATED layperson [] xref: SNOMEDCT_US:3424008 xref: SNOMEDCT_US:86651002 xref: UMLS:C0039231 xref: UMLS:C4020868 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001650 name: Aortic valve stenosis alt_id: HP:0005140 def: "The presence of a stenosis (narrowing) of the aortic valve." [https://orcid.org/0000-0002-0736-9199] comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. synonym: "Aortic stenosis" EXACT [] synonym: "Narrowing of aortic valve" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Valvular aortic stenosis" EXACT [] xref: Fyler:1411 xref: SNOMEDCT_US:60573004 xref: UMLS:C0003507 is_a: HP:0031652 ! Abnormal aortic valve physiology [Term] id: HP:0001651 name: Dextrocardia def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0009-0006-4530-3154] synonym: "Heart tip and four chambers point towards right side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Thoracic situs inversus" EXACT [] xref: EPCC:02.01.02 xref: Fyler:0110 xref: Fyler:110 xref: ICD-10:Q24.0 xref: SNOMEDCT_US:27637000 xref: UMLS:C0011813 is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001653 name: Mitral regurgitation def: "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [https://orcid.org/0000-0002-0736-9199] synonym: "Mitral incompetence" EXACT [] synonym: "Mitral insufficiency" EXACT [] synonym: "Mitral regurgitation, mild" RELATED [] synonym: "Mitral valve insufficiency" EXACT [] synonym: "Mitral valve regurgitation" EXACT [] xref: Fyler:1151 xref: SNOMEDCT_US:48724000 xref: UMLS:C0026266 xref: UMLS:C3551535 is_a: HP:0031481 ! Abnormal mitral valve physiology is_a: HP:0034376 ! Atrioventricular valve regurgitation [Term] id: HP:0001654 name: Abnormal heart valve morphology alt_id: HP:0001703 def: "Any structural abnormality of a cardiac valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the heart valves" EXACT [] synonym: "Valvular abnormality" EXACT [] synonym: "Valvular heart disease" RELATED [] xref: SNOMEDCT_US:368009 xref: UMLS:C0018824 xref: UMLS:C0241654 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001655 name: Patent foramen ovale def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. synonym: "Persistent foramen ovale" EXACT [] synonym: "PFO" EXACT abbreviation [] xref: Fyler:2020 xref: ICD-10:Q21.1 xref: SNOMEDCT_US:204317008 xref: UMLS:C0016522 is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001657 name: Prolonged QT interval def: "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [https://orcid.org/0000-0002-0736-9199] comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles. synonym: "Long Q-T syndrome" RELATED [] synonym: "Long QT syndrome" EXACT [] synonym: "Prolong qt interval on ekg" EXACT [] xref: SNOMEDCT_US:111975006 xref: UMLS:C0151878 is_a: HP:0031547 ! Abnormal QT interval [Term] id: HP:0001658 name: Myocardial infarction def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [https://orcid.org/0000-0002-0736-9199] synonym: "Heart attack" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "MI" EXACT abbreviation [] xref: SNOMEDCT_US:22298006 xref: UMLS:C0027051 is_a: HP:0033678 ! Acute coronary syndrome [Term] id: HP:0001659 name: Aortic regurgitation def: "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Aortic insufficiency" EXACT [] synonym: "Aortic valve regurgitation" EXACT [] xref: SNOMEDCT_US:60234000 xref: UMLS:C0003504 is_a: HP:0031652 ! Abnormal aortic valve physiology [Term] id: HP:0001660 name: Truncus arteriosus def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Common arterial trunk" EXACT [] synonym: "Persistent truncus arteriosus" RELATED [] xref: Fyler:0500 xref: Fyler:500 xref: ICD-10:Q20.0 xref: SNOMEDCT_US:58140002 xref: UMLS:C0041206 xref: UMLS:C4020867 is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001662 name: Bradycardia def: "A slower than normal heart rate (in adults, slower than 60 beats per minute)." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachycardia" EXACT [] synonym: "Slow heartbeats" EXACT layperson [] xref: SNOMEDCT_US:48867003 xref: UMLS:C0428977 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001663 name: Ventricular fibrillation alt_id: HP:0005166 def: "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:71908006 xref: UMLS:C0042510 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001664 name: Torsade de pointes def: "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [https://orcid.org/0000-0002-0736-9199] synonym: "Torsades de pointes" EXACT [] xref: SNOMEDCT_US:31722008 xref: UMLS:C0040479 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001667 name: Right ventricular hypertrophy def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Heart right ventricle hypertrophy" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:3609 xref: SNOMEDCT_US:89792004 xref: UMLS:C0162770 is_a: HP:0001707 ! Abnormal right ventricle morphology is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001669 name: Transposition of the great arteries def: "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, https://orcid.org/0000-0002-0736-9199, PMID:10798431] synonym: "TGA" EXACT abbreviation [] synonym: "TGV" EXACT abbreviation [] synonym: "Transposition of great vessels" EXACT [] xref: SNOMEDCT_US:204296002 xref: SNOMEDCT_US:26146002 xref: UMLS:C3536741 is_a: HP:0011563 ! Abnormal ventriculoarterial connection is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001670 name: Asymmetric septal hypertrophy def: "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray." [https://orcid.org/0000-0002-0736-9199, PMID:17916581] xref: UMLS:C0205700 is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0001671 name: Abnormal cardiac septum morphology alt_id: HP:0001690 alt_id: HP:0004760 def: "An anomaly of the intra-atrial or intraventricular septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cardiac septa" EXACT [] synonym: "Heart septal defect" EXACT [] synonym: "Septal defects" EXACT plural_form [] xref: SNOMEDCT_US:253273004 xref: SNOMEDCT_US:396351009 xref: SNOMEDCT_US:59494005 xref: UMLS:C0018816 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001673 name: obsolete Tachycardia (with pheochromocytoma) is_obsolete: true replaced_by: HP:0001649 [Term] id: HP:0001674 name: Complete atrioventricular canal defect alt_id: HP:0001689 alt_id: HP:0006697 def: "A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:16722604] comment: The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. synonym: "Common atrioventricular canal" EXACT [] synonym: "Complete atrioventricular canal" EXACT [] synonym: "Complete atrioventricular septal defect" EXACT [] synonym: "Complete common AV canal" EXACT [] xref: Fyler:1120 is_a: HP:0006695 ! Atrioventricular canal defect [Term] id: HP:0001675 name: obsolete Rhythm disturbances associated with pheochromocytoma is_obsolete: true replaced_by: HP:0011675 [Term] id: HP:0001676 name: obsolete Palpitations (with pheochromocytoma) is_obsolete: true replaced_by: HP:0001962 [Term] id: HP:0001677 name: Coronary artery atherosclerosis alt_id: HP:0004929 alt_id: HP:0005138 def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia." [https://orcid.org/0000-0002-0736-9199, PMID:31420554] comment: Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. synonym: "Coronary atherosclerosis" EXACT [] synonym: "Coronary disease" EXACT [] synonym: "Plaque build-up in arteries supplying blood to heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:414024009 xref: SNOMEDCT_US:53741008 xref: UMLS:C1956346 is_a: HP:0002621 ! Atherosclerosis is_a: HP:0006704 ! Abnormal coronary artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001678 name: Atrioventricular block alt_id: HP:0001668 alt_id: HP:0005142 alt_id: HP:0006672 def: "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles." [https://orcid.org/0000-0002-0736-9199] synonym: "Atrioventricular nodal disease" RELATED [] synonym: "Interruption of electrical communication between upper and lower chambers of heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:233917008 xref: UMLS:C0004245 xref: UMLS:C1841659 is_a: HP:0005150 ! Abnormal atrioventricular conduction is_a: HP:0012722 ! Heart block [Term] id: HP:0001679 name: Abnormal aortic morphology alt_id: HP:0030963 def: "An abnormality of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:24910511] synonym: "Abnormal aorta morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the aorta" EXACT [] xref: Fyler:1453 xref: UMLS:C4025756 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0030962 ! Abnormal morphology of the great vessels [Term] id: HP:0001680 name: Coarctation of aorta def: "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:23909637] comment: Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient. synonym: "Aortic coarctation" EXACT [] synonym: "Coarctation of the aorta" EXACT [] synonym: "Narrowing of aorta" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Narrowing of the aorta" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:7305005 xref: UMLS:C0003492 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0001681 name: Angina pectoris def: "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:194828000 xref: SNOMEDCT_US:225566008 xref: UMLS:C0002962 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0001682 name: Subvalvular aortic stenosis def: "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve." [https://orcid.org/0000-0002-0736-9199] comment: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. synonym: "Narrowing of blood vessel below aortic heart valve" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Subaortic stenosis" EXACT [] xref: SNOMEDCT_US:204368006 xref: UMLS:C0340375 is_a: HP:0011103 ! Abnormal left ventricular outflow tract morphology [Term] id: HP:0001683 name: Ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall." [HPO_CONTRIBUTOR:DDD_dbrown] comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). xref: Fyler:0170 xref: Fyler:170 xref: SNOMEDCT_US:78250005 xref: UMLS:C0013580 is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001684 name: Secundum atrial septal defect alt_id: HP:0200131 def: "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Atrial septal defect, ostium secundum type" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Ostium secundum atrial septal defect" EXACT [] synonym: "Patent ostium secundum" EXACT [] xref: Fyler:2000 xref: ICD-10:Q21.1 xref: SNOMEDCT_US:204315000 xref: UMLS:C0344724 is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001685 name: Myocardial fibrosis def: "Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts." [PMID:28157267] comment: Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. xref: UMLS:C0151654 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001686 name: Loss of voice synonym: "Aphonia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:441913003 xref: SNOMEDCT_US:44564008 xref: UMLS:C0003564 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001688 name: Sinus bradycardia alt_id: HP:0005137 def: "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:7013 xref: SNOMEDCT_US:49710005 xref: UMLS:C0085610 is_a: HP:0001662 ! Bradycardia is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin [Term] id: HP:0001691 name: Muscular subvalvular aortic stenosis def: "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscular subaortic stenosis" EXACT [] xref: UMLS:C3887554 is_a: HP:0001682 ! Subvalvular aortic stenosis [Term] id: HP:0001692 name: Atrial arrhythmia def: "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Primary atrial arrhythmia" RELATED [] xref: SNOMEDCT_US:17366009 xref: UMLS:C0085611 xref: UMLS:C4025755 is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0001693 name: Cardiac shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:442119001 xref: UMLS:C0232180 is_a: HP:0011028 ! Abnormality of blood circulation [Term] id: HP:0001694 name: Right-to-left shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left." [https://orcid.org/0000-0001-9114-8737] xref: SNOMEDCT_US:79692001 xref: UMLS:C0428871 is_a: HP:0001693 ! Cardiac shunt [Term] id: HP:0001695 name: Cardiac arrest def: "An abrupt loss of heart function." [] synonym: "Heart stops beating" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:397829000 xref: SNOMEDCT_US:410429000 xref: UMLS:C0018790 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001696 name: Situs inversus totalis def: "A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "All organs on wrong side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Situs inversus" RELATED [] synonym: "situs oppositus" EXACT [] synonym: "situs transversus" EXACT [] xref: Fyler:0100 xref: Fyler:100 xref: SNOMEDCT_US:14821001 xref: SNOMEDCT_US:24614000 xref: SNOMEDCT_US:27317008 xref: SNOMEDCT_US:43876007 xref: UMLS:C0037221 xref: UMLS:C0266642 is_a: HP:0001651 ! Dextrocardia is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments [Term] id: HP:0001697 name: Abnormal pericardium morphology def: "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pericardium" EXACT [] xref: Fyler:1900 xref: UMLS:C4025754 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001698 name: Pericardial effusion def: "Accumulation of fluid within the pericardium." [https://orcid.org/0000-0002-0736-9199] synonym: "Fluid around heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pericardial effusions" EXACT [] xref: Fyler:1940 xref: SNOMEDCT_US:373945007 xref: UMLS:C0031039 is_a: HP:0001697 ! Abnormal pericardium morphology [Term] id: HP:0001699 name: Sudden death def: "Rapid and unexpected death." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:26636000 xref: UMLS:C0011071 is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0001700 name: Myocardial necrosis def: "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction)." [PMID:20405318] xref: SNOMEDCT_US:251061000 xref: UMLS:C1442837 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001701 name: Pericarditis def: "Inflammation of the sac-like covering around the heart (pericardium)." [https://orcid.org/0000-0002-0736-9199] synonym: "Swelling or irritation of membrane around heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:3238004 xref: UMLS:C0031046 is_a: HP:0001697 ! Abnormal pericardium morphology is_a: HP:0045073 ! Serositis [Term] id: HP:0001702 name: Abnormal tricuspid valve morphology alt_id: HP:0031440 def: "Any structural anomaly of the tricuspid valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the tricuspid valve" EXACT [] xref: EPCC:06.01.00 xref: UMLS:C4025753 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology [Term] id: HP:0001704 name: Tricuspid valve prolapse def: "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:1733 xref: SNOMEDCT_US:253383003 xref: UMLS:C0040962 is_a: HP:0001702 ! Abnormal tricuspid valve morphology [Term] id: HP:0001705 name: Right ventricular outlet tract obstruction def: "An obstruction to the forward flow of blood in the outflow tract of the right ventricle." [PMID:30038501] synonym: "Right ventricular outlet obstruction" EXACT [] xref: UMLS:C0035619 is_a: HP:0033118 ! Abnormal right ventricular function [Term] id: HP:0001706 name: Endocardial fibroelastosis def: "Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction" [PMID:23109776] xref: SNOMEDCT_US:65457005 xref: UMLS:C0014117 is_a: HP:0004306 ! Abnormal endocardium morphology [Term] id: HP:0001707 name: Abnormal right ventricle morphology def: "An abnormality of the right ventricle of the heart." [https://orcid.org/0000-0002-0736-9199] comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. synonym: "Abnormality of the right ventricle" EXACT [] synonym: "Right ventricular abnormality" EXACT [] xref: Fyler:1820 xref: SNOMEDCT_US:253516002 xref: UMLS:C0344887 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001708 name: Right ventricular failure def: "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly." [https://orcid.org/0000-0002-0736-9199] synonym: "Impaired right ventricular function" EXACT [] synonym: "Right ventricular impairment" EXACT [] synonym: "Right-sided heart failure" EXACT [] xref: SNOMEDCT_US:128404006 xref: SNOMEDCT_US:367363000 xref: UMLS:C0235527 xref: UMLS:C2939447 is_a: HP:0033118 ! Abnormal right ventricular function [Term] id: HP:0001709 name: Third degree atrioventricular block def: "Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them." [PMID:21841933] synonym: "Complete heart block" EXACT layperson [] synonym: "Third-degree heart block" RELATED [] xref: SNOMEDCT_US:27885002 xref: UMLS:C0151517 is_a: HP:0001678 ! Atrioventricular block [Term] id: HP:0001710 name: Conotruncal defect def: "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Conotruncal heart defects" EXACT [] xref: UMLS:C1853238 is_a: HP:0011563 ! Abnormal ventriculoarterial connection is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001711 name: Abnormal left ventricle morphology def: "Any structural abnormality of the left ventricle of the heart." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal heart left ventricle morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the left ventricle" EXACT [] synonym: "Left ventricular abnormality" EXACT [] xref: Fyler:1810 xref: SNOMEDCT_US:253535002 xref: UMLS:C0344905 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001712 name: Left ventricular hypertrophy alt_id: HP:0005171 def: "Enlargement or increased size of the heart left ventricle." [MP:0002625] synonym: "Heart left ventricle hypertrophy" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Left ventricular wall hypertrophy" EXACT [] xref: Fyler:3608 xref: SNOMEDCT_US:55827005 xref: UMLS:C0149721 is_a: HP:0001711 ! Abnormal left ventricle morphology is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001713 name: Abnormal cardiac ventricle morphology def: "An abnormality of a cardiac ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cardiac ventricle" EXACT [] xref: UMLS:C4025752 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001714 name: Ventricular hypertrophy alt_id: HP:0005167 def: "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:266249003 xref: UMLS:C0340279 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001716 name: Wolff-Parkinson-White syndrome def: "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:74390002 xref: UMLS:C0043202 is_a: HP:0004309 ! Ventricular preexcitation [Term] id: HP:0001717 name: Coronary artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:445512009 xref: UMLS:C1611184 is_a: HP:0003207 ! Arterial calcification is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0001718 name: Mitral stenosis alt_id: HP:0005163 def: "An abnormal narrowing of the orifice of the mitral valve." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Mitral valve stenosis" EXACT [] xref: EPCC:06.02.92 xref: Fyler:1511 xref: ICD-10:Q23.2 xref: SNOMEDCT_US:79619009 xref: UMLS:C0026269 is_a: HP:0031481 ! Abnormal mitral valve physiology [Term] id: HP:0001719 name: Double outlet right ventricle def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [https://orcid.org/0000-0002-0736-9199, PMID:10798433] comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodeling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodeling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. synonym: "DORV" EXACT abbreviation [] synonym: "Double-outlet right ventricle" EXACT [] xref: Fyler:600 xref: Fyler:606 xref: SNOMEDCT_US:7484005 xref: UMLS:C0013069 is_a: HP:0001710 ! Conotruncal defect is_a: HP:0011723 ! Congenital malformation of the right heart [Term] id: HP:0001722 name: High-output congestive heart failure def: "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0742747 is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0001723 name: Restrictive cardiomyopathy alt_id: HP:0005130 def: "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness." [https://orcid.org/0000-0002-0736-9199, PMID:17916581] comment: Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM. xref: SNOMEDCT_US:415295002 xref: SNOMEDCT_US:90828009 xref: UMLS:C0007196 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001724 name: obsolete Aortic dilatation is_obsolete: true replaced_by: HP:0004942 [Term] id: HP:0001726 name: obsolete Increased prevalence of valvular disease is_obsolete: true consider: HP:0001654 [Term] id: HP:0001727 name: Thromboembolic stroke def: "A cerebrovascular accident (stroke) that occurs because of thromboembolism." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1112433 is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001730 name: Progressive hearing impairment alt_id: HP:0008590 def: "A progressive form of hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive hearing loss" EXACT [] xref: UMLS:C1842138 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0001732 name: Abnormality of the pancreas def: "An abnormality of the pancreas." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pancreas" EXACT layperson [] synonym: "Pancreatic disease" RELATED layperson [] xref: SNOMEDCT_US:3855007 xref: UMLS:C0030286 xref: UMLS:C4025751 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001733 name: Pancreatitis def: "The presence of inflammation in the pancreas." [https://orcid.org/0000-0002-0736-9199] synonym: "Pancreatic inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:75694006 xref: UMLS:C0030305 is_a: HP:0012091 ! Abnormality of pancreas physiology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0001734 name: Annular pancreas def: "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:40315008 xref: UMLS:C0149955 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0001735 name: Acute pancreatitis alt_id: HP:0004512 def: "A acute form of pancreatitis." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute pancreatic inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pancreatitis, acute" EXACT [] xref: SNOMEDCT_US:197456007 xref: UMLS:C0001339 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0001737 name: Pancreatic cysts def: "A cyst of the pancreas that possess a lining of mucous epithelium." [https://orcid.org/0000-0002-0736-9199] comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. synonym: "Multiple pancreatic cysts" RELATED layperson [] synonym: "Pancreatic cyst" RELATED layperson [] synonym: "Pancreatic cysts" EXACT layperson [] xref: SNOMEDCT_US:31258000 xref: UMLS:C0030283 xref: UMLS:C1860394 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0001738 name: Exocrine pancreatic insufficiency alt_id: HP:0002581 alt_id: HP:0004508 alt_id: HP:0004509 def: "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [https://orcid.org/0000-0002-0736-9199] synonym: "Inability to properly digest food due to lack of pancreatic digestive enzymes" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pancreatic insufficiency" RELATED [] xref: SNOMEDCT_US:37992001 xref: SNOMEDCT_US:47367009 xref: UMLS:C0030293 xref: UMLS:C0267963 is_a: HP:0012092 ! Abnormality of exocrine pancreas physiology [Term] id: HP:0001739 name: Abnormal nasopharynx morphology def: "A structural anomaly of the nasopharynx." [] comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. synonym: "Abnormality of the nasopharynx" EXACT [] xref: UMLS:C4025750 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0033151 ! Abnormal pharynx morphology [Term] id: HP:0001741 name: Phimosis def: "The male foreskin cannot be fully retracted from the head of the penis." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:253854008 xref: UMLS:C0345326 is_a: HP:0100587 ! Abnormal preputium morphology [Term] id: HP:0001742 name: Nasal congestion def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [https://orcid.org/0000-0002-0736-9199] synonym: "Blockage of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Congestion of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal blockage" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal obstruction" EXACT layperson [] synonym: "Obstruction of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Stuffy nose" EXACT layperson [http://www.entnet.org/content/stuffy-nose] xref: SNOMEDCT_US:232209000 xref: SNOMEDCT_US:267100006 xref: SNOMEDCT_US:68235000 xref: UMLS:C0027424 xref: UMLS:C0027429 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0001743 name: Abnormality of the spleen def: "An abnormality of the spleen." [https://orcid.org/0000-0002-0736-9199] comment: The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. synonym: "Abnormality of the spleen" EXACT layperson [] xref: UMLS:C4025749 is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0001744 name: Splenomegaly alt_id: HP:0001745 alt_id: HP:0006269 def: "Abnormal increased size of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased spleen size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Large spleen" EXACT layperson [] xref: SNOMEDCT_US:16294009 xref: UMLS:C0038002 is_a: HP:0003271 ! Visceromegaly is_a: HP:0025408 ! Abnormal spleen morphology [Term] id: HP:0001746 name: Asplenia def: "Absence (aplasia) of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4771 xref: SNOMEDCT_US:702624008 xref: SNOMEDCT_US:707147002 xref: SNOMEDCT_US:93030006 xref: UMLS:C0600031 is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen [Term] id: HP:0001747 name: Accessory spleen def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:4772 xref: SNOMEDCT_US:10362008 xref: UMLS:C0266631 is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001748 name: Polysplenia alt_id: HP:0001749 alt_id: HP:0006271 alt_id: HP:0006272 def: "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [https://orcid.org/0000-0002-0736-9199] synonym: "Accessory spleens" EXACT [] synonym: "Multiple accessory spleens" EXACT [] synonym: "Multiple small spleens" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1856659 is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001750 name: Single ventricle def: "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle." [MP:0010432] synonym: "Common ventricle" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:0200 xref: Fyler:200 xref: SNOMEDCT_US:45503006 xref: UMLS:C0152424 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001751 name: Abnormal vestibular function alt_id: HP:0006917 alt_id: HP:0007921 def: "An abnormality of the functioning of the vestibular apparatus." [https://orcid.org/0000-0002-0736-9199] comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. synonym: "Impaired vestibular function" EXACT [] synonym: "Interictal vestibular dysfunction" EXACT [] synonym: "Vestibular function defect" EXACT [] xref: UMLS:C1843865 is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0001756 name: Vestibular hyporeflexia def: "A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance" [https://orcid.org/0000-0002-0736-9199, PMID:32767115] synonym: "Vestibular deficiency" EXACT [] synonym: "Vestibular dysfunction" EXACT [] synonym: "Vestibular failure" EXACT [] synonym: "Vestibular hypofunction" EXACT [] synonym: "Vestibular hyporeflexia" EXACT [] synonym: "Vestibular loss" EXACT [] synonym: "Vestibulopathy" EXACT [] xref: UMLS:C1848606 is_a: HP:0001751 ! Abnormal vestibular function [Term] id: HP:0001757 name: High-frequency sensorineural hearing impairment def: "A form of sensorineural hearing impairment that affects primarily the higher frequencies." [https://orcid.org/0000-0002-0736-9199] synonym: "High frequency sensorineural hearing impairment" EXACT [] synonym: "High-tone sensorineural deafness" EXACT [] synonym: "High-tone sensorineural hearing impairment" EXACT [] xref: UMLS:C4021775 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0001760 name: Abnormal foot morphology alt_id: HP:0010216 alt_id: HP:0010611 def: "An abnormality of the skeleton of foot." [https://orcid.org/0000-0002-0736-9199] comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. synonym: "Abnormal feet structure" EXACT layperson [] synonym: "Abnormality of the feet" EXACT layperson [] synonym: "Abnormality of the foot" EXACT layperson [] synonym: "Foot deformities" EXACT layperson [] synonym: "Foot deformity" EXACT layperson [] xref: SNOMEDCT_US:229844004 xref: UMLS:C0016506 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0001761 name: Pes cavus alt_id: HP:0008075 def: "An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Cavus foot" EXACT [] synonym: "High-arched foot" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10034743 "Pes cavus" xref: SNOMEDCT_US:205091006 xref: UMLS:C0728829 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001762 name: Talipes equinovarus def: "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [https://orcid.org/0000-0002-0736-9199, PMID:32491773] comment: Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. Fetal foot inversion refers to malposition of the foot originating during development involving inversion at the region of the metacarpals or more usually the subtalar joint and represents the prenatal sonographic equivalent of talipes equinovarus. subset: hposlim_core synonym: "Club feet" EXACT layperson [] synonym: "Club foot" EXACT layperson [] synonym: "Clubbing of feet" EXACT [] synonym: "Clubfeet" EXACT layperson [] synonym: "Clubfoot" EXACT layperson [] synonym: "Equinovarus" EXACT [] synonym: "Fetal foot inversion" NARROW [] synonym: "Foetal foot inversion" NARROW uk_spelling [] synonym: "Foot, talipes equinovarus" EXACT [] synonym: "Pes equinovarus" EXACT [] synonym: "Pes equinus" EXACT [] xref: Fyler:4171 xref: MEDDRA:10043106 "Talipes equinovarus, congenital" xref: SNOMEDCT_US:249808002 xref: SNOMEDCT_US:397932003 xref: UMLS:C0009081 is_a: HP:0001883 ! Talipes [Term] id: HP:0001763 name: Pes planus def: "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Dropped arches" RELATED layperson [] synonym: "Fallen arches" RELATED layperson [] synonym: "Flat feet" EXACT layperson [] synonym: "Flat foot" EXACT layperson [] xref: SNOMEDCT_US:203534009 xref: SNOMEDCT_US:53226007 xref: UMLS:C0016202 xref: UMLS:C0264133 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001765 name: Hammertoe def: "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [PMID:19125433] subset: hposlim_core synonym: "Hammer toe" EXACT layperson [] synonym: "Hammertoe" EXACT layperson [] synonym: "Hammertoes" EXACT layperson [] xref: SNOMEDCT_US:122481008 xref: UMLS:C1136179 is_a: HP:0034398 ! Toe deformity [Term] id: HP:0001769 name: Broad foot def: "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [PMID:19125433] subset: hposlim_core synonym: "Broad feet" EXACT layperson [] synonym: "Broad foot" EXACT layperson [] synonym: "Wide foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1866241 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001770 name: Toe syndactyly alt_id: HP:0001828 alt_id: HP:0005677 def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0000-0002-0736-9199] synonym: "Foot syndactyly" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Fused toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Syndactyly of feet" EXACT [] synonym: "Syndactyly of toes" EXACT [] synonym: "Webbed toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:32113001 xref: UMLS:C0265660 is_a: HP:0001159 ! Syndactyly is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001771 name: Achilles tendon contracture alt_id: HP:0004711 alt_id: HP:0005031 alt_id: HP:0006430 def: "A contracture of the Achilles tendon." [https://orcid.org/0000-0002-0736-9199] synonym: "Achilles tendon contractures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Contractures of the Achilles tendon" EXACT [] synonym: "Shortening of the achilles tendon" EXACT layperson [] synonym: "Tight achilles tendon" EXACT layperson [] xref: SNOMEDCT_US:203076007 xref: UMLS:C0410264 is_a: HP:0005109 ! Abnormality of the Achilles tendon is_a: HP:0008366 ! Foot joint contracture [Term] id: HP:0001772 name: Talipes equinovalgus def: "A deformity of foot and ankle in which the foot is bent down and outwards." [https://orcid.org/0000-0002-0736-9199] synonym: "Equinovalgus deformity" RELATED [] xref: SNOMEDCT_US:68284008 xref: UMLS:C0265642 xref: UMLS:C4020866 is_a: HP:0001883 ! Talipes [Term] id: HP:0001773 name: Short foot alt_id: HP:0001764 alt_id: HP:0001766 alt_id: HP:0001778 alt_id: HP:0008135 def: "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] synonym: "Hypoplastic feet" EXACT [] synonym: "Short feet" EXACT layperson [] synonym: "Short foot" EXACT layperson [] synonym: "Small feet" EXACT layperson [] xref: UMLS:C1848673 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001775 name: Tarsal osteovalgus xref: UMLS:C4025748 is_a: HP:0008365 ! Abnormal talus morphology [Term] id: HP:0001776 name: Bilateral talipes equinovarus def: "Bilateral clubfoot deformity." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral clubfeet" EXACT [] synonym: "Bilateral clubfoot" EXACT [] synonym: "Club foot on both sides" EXACT layperson [] xref: UMLS:C1837835 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0001780 name: Abnormal toe morphology def: "An anomaly of a toe." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormalities of the toes" EXACT layperson [] synonym: "Abnormality of toe" EXACT layperson [] xref: UMLS:C2674738 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001782 name: Bulbous tips of toes def: "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025747 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001783 name: Broad metatarsal alt_id: HP:0005907 alt_id: HP:0008106 def: "Increased side-to-side width of a metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad metatarsals" RELATED [] synonym: "Wide long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Widened metatarsal shaft" RELATED [] xref: UMLS:C1842231 xref: UMLS:C1850161 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0001785 name: Ankle swelling synonym: "Ankle swelling" EXACT layperson [] xref: SNOMEDCT_US:26237000 xref: SNOMEDCT_US:267039000 xref: UMLS:C0235439 is_a: HP:0034673 ! Abnormal ankle morphology [Term] id: HP:0001786 name: Narrow foot def: "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length." [PMID:19125433] subset: hposlim_core synonym: "Narrow foot" EXACT layperson [] synonym: "Slender feet" EXACT layperson [] xref: SNOMEDCT_US:299464006 xref: UMLS:C0576227 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001787 name: Abnormal delivery def: "An abnormality of the birth process." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal delivery" EXACT layperson [] synonym: "Delivery complication" EXACT layperson [] xref: SNOMEDCT_US:274127000 xref: UMLS:C0549629 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001788 name: Premature rupture of membranes alt_id: HP:0002163 def: "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:237266003 xref: SNOMEDCT_US:44223004 xref: UMLS:C0015944 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001789 name: Hydrops fetalis alt_id: HP:0005099 def: "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [https://orcid.org/0000-0002-0736-9199] comment: The most common causes of hydrops fetalis are hematologic (including isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. xref: SNOMEDCT_US:276508000 xref: UMLS:C0020305 is_a: HP:0000969 ! Edema is_a: HP:0034058 ! Abnormal fetal morphology [Term] id: HP:0001790 name: Nonimmune hydrops fetalis def: "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ." [https://orcid.org/0000-0002-0736-9199] synonym: "Hydrops fetalis, non-immune" EXACT [] synonym: "Hydrops fetalis, nonimmune" EXACT [] synonym: "Non-immune fetal hydrops" EXACT [] synonym: "Non-immune foetal hydrops" EXACT uk_spelling [] synonym: "Nonimmune hydrops" EXACT [] xref: SNOMEDCT_US:206538000 xref: SNOMEDCT_US:276509008 xref: UMLS:C0455988 is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0001791 name: Fetal ascites def: "Accumulation of fluid in the peritoneal cavity during the fetal period." [https://orcid.org/0000-0002-0736-9199] synonym: "Foetal ascites" EXACT uk_spelling [] xref: SNOMEDCT_US:363125002 xref: UMLS:C1285291 is_a: HP:0001541 ! Ascites is_a: HP:0034207 ! Abnormal fetal gastrointestinal system morphology [Term] id: HP:0001792 name: Small nail alt_id: HP:0001813 def: "A nail that is diminished in length and width, i.e., underdeveloped nail." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] synonym: "Hypoplastic nail" EXACT [] synonym: "Hypoplastic nails" EXACT [] synonym: "Nail hypoplasia" EXACT [] synonym: "Small nail" EXACT layperson [] synonym: "Small nails" EXACT layperson [] xref: SNOMEDCT_US:11375002 xref: UMLS:C0263523 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001795 name: Hyperconvex nail alt_id: HP:0008413 def: "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified. subset: hposlim_core synonym: "Increased nail curvature" EXACT layperson [] synonym: "Nail overcurvature" EXACT layperson [] xref: SNOMEDCT_US:247487009 xref: UMLS:C0423807 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001798 name: Anonychia alt_id: HP:0007593 alt_id: HP:0008384 def: "Aplasia of the nail." [https://orcid.org/0000-0002-0736-9199] comment: Total absence of nails. subset: hposlim_core synonym: "Absent nails" EXACT layperson [] synonym: "Aplastic nails" EXACT layperson [] xref: SNOMEDCT_US:23610003 xref: UMLS:C0265998 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001799 name: Short nail alt_id: HP:0200075 def: "Decreased length of nail." [PMID:19125433] comment: Use this designation when the length is reduced but the width is normal. subset: hposlim_core synonym: "Short nail" EXACT layperson [] synonym: "Short nails" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:247488004 xref: UMLS:C0423808 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001800 name: Hypoplastic toenails def: "Underdevelopment of the toenail." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837279 is_a: HP:0001792 ! Small nail is_a: HP:0010624 ! Aplastic/hypoplastic toenail [Term] id: HP:0001802 name: Absent toenail def: "Congenital absence of the toenail." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent toenail" EXACT layperson [] synonym: "Absent toenails" RELATED layperson [] synonym: "Absent toenails (anonychia)" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Anonychia of toenails" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1844555 is_a: HP:0001798 ! Anonychia is_a: HP:0010624 ! Aplastic/hypoplastic toenail [Term] id: HP:0001803 name: Nail pits def: "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." [PMID:19125433] subset: secondary_consequence synonym: "Nail pits" EXACT layperson [] synonym: "Nail pitting" EXACT layperson [] synonym: "Pitted nails" EXACT layperson [] xref: MEDDRA:10028702 "Nail pitting" xref: SNOMEDCT_US:89704006 xref: UMLS:C0150993 is_a: HP:0025757 ! Abnormal nail surface [Term] id: HP:0001804 name: Hypoplastic fingernail def: "Underdevelopment of a fingernail." [https://orcid.org/0000-0002-0736-9199] synonym: "Small fingernail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped fingernail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856786 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0001792 ! Small nail [Term] id: HP:0001805 name: Onychogryphosis alt_id: HP:0001819 alt_id: HP:0200088 def: "Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature." [PMID:19125433, PMID:30410908, PMID:33021642] comment: There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. The spelling onychogryposis is occasionally used but it is not correct. synonym: "Dystrophic thickened nails" EXACT [] synonym: "Onychogryposis" EXACT [] synonym: "Thick nail" EXACT layperson [] synonym: "Thickened nails" EXACT layperson [] xref: SNOMEDCT_US:52897009 xref: UMLS:C0263537 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0001806 name: Onycholysis def: "Detachment of the nail from the nail bed." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Detachment of nail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Oncholysis" EXACT [] xref: MEDDRA:10030337 "Onycholysis" xref: SNOMEDCT_US:75789001 xref: UMLS:C0085661 is_a: HP:0025756 ! Abnormal nail attachment [Term] id: HP:0001807 name: Ridged nail alt_id: HP:0001801 alt_id: HP:0001811 def: "Longitudinal, linear prominences in the nail plate." [PMID:19125433] comment: There may be only one, or several ridges. The affected digits should be specified. subset: hposlim_core synonym: "Grooved nails" EXACT layperson [] synonym: "Longitudinal ridging" EXACT [] synonym: "Nail ridging" EXACT layperson [] synonym: "Ridged nails" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:271768001 xref: UMLS:C0423820 is_a: HP:0025757 ! Abnormal nail surface [Term] id: HP:0001808 name: Fragile nails alt_id: HP:0001796 def: "Nails that easily break." [https://orcid.org/0000-0002-0736-9199] synonym: "Brittle nails" EXACT layperson [] xref: UMLS:C1856963 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0001809 name: Split nail def: "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature." [PMID:19125433] comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments. synonym: "Longitudinal splitting of nail" EXACT layperson [] xref: SNOMEDCT_US:85136002 xref: UMLS:C0263530 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001810 name: Dystrophic toenail alt_id: HP:0007558 def: "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate." [https://orcid.org/0000-0002-0736-9199] synonym: "Dystrophic toenail changes" EXACT [] synonym: "Dystrophic toenails" RELATED [] synonym: "Poor toenail formation" EXACT layperson [http://naildystrophy.com/, https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1833225 is_a: HP:0008388 ! Abnormal toenail morphology is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0001812 name: Hyperconvex fingernails alt_id: HP:0008380 def: "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] synonym: "Tubular fingernails" EXACT [] xref: UMLS:C1844825 is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0001814 name: Deep-set nails def: "Deeply placed nails." [https://orcid.org/0000-0002-0736-9199] synonym: "Deep-set nails" EXACT layperson [] xref: UMLS:C3277753 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001816 name: Thin nail def: "Nail that appears thin when viewed on end." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified. subset: hposlim_core synonym: "Thin nail" EXACT layperson [] synonym: "Thin nails" EXACT layperson [] xref: SNOMEDCT_US:63829008 xref: UMLS:C0423823 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0001817 name: Absent fingernail def: "Absence of a fingernail." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent fingernail" EXACT layperson [] synonym: "Anonychia of fingernails" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Aplasia of the fingernail" EXACT [] xref: UMLS:C1844554 is_a: HP:0001798 ! Anonychia [Term] id: HP:0001818 name: Paronychia def: "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MEDDRA:10034016 "Paronychia" xref: SNOMEDCT_US:71906005 xref: UMLS:C0030578 is_a: HP:0100803 ! Abnormal periungual morphology [Term] id: HP:0001820 name: Leukonychia def: "White discoloration of the nails." [https://orcid.org/0000-0002-0736-9199] synonym: "White discoloration of nails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10050658 "Leukonychia" xref: SNOMEDCT_US:111202002 xref: UMLS:C0240182 is_a: HP:0100643 ! Abnormality of nail color [Term] id: HP:0001821 name: Broad nail alt_id: HP:0008406 def: "Increased width of nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad fingernails" EXACT layperson [] synonym: "Broad nail" EXACT layperson [] synonym: "Wide fingernails" EXACT layperson [] xref: UMLS:C1843112 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001822 name: Hallux valgus alt_id: HP:0004682 def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Bunion" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Lateral deviation of great toe" EXACT [] synonym: "Lateral deviation of halluces" EXACT [] xref: SNOMEDCT_US:122480009 xref: SNOMEDCT_US:415692008 xref: UMLS:C0006386 xref: UMLS:C0018536 is_a: HP:0010051 ! Deviation of the hallux [Term] id: HP:0001824 name: Weight loss def: "Reduction of total body weight." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of weight" EXACT [] xref: SNOMEDCT_US:161832001 xref: SNOMEDCT_US:262285001 xref: SNOMEDCT_US:89362005 xref: UMLS:C1262477 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001827 name: Genital tract atresia alt_id: HP:0001534 def: "Congenital occlusion of a tube in the genital tract." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025746 is_a: HP:0012243 ! Abnormal reproductive system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T04:08:00Z [Term] id: HP:0001829 name: Foot polydactyly alt_id: HP:0009135 def: "A kind of polydactyly characterized by the presence of a supernumerary toe or toes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Duplication of bones of the toes" EXACT layperson [] synonym: "Polydactyly of feet" EXACT [] synonym: "Polydactyly of the foot" EXACT [] xref: SNOMEDCT_US:62218008 xref: UMLS:C0158734 is_a: HP:0001780 ! Abnormal toe morphology is_a: HP:0009136 ! Duplication involving bones of the feet is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001830 name: Postaxial foot polydactyly alt_id: HP:0010346 def: "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [https://orcid.org/0000-0002-0736-9199] comment: The modifier postaxial means that the supernumerary digit is not a hallux. synonym: "Extra toe attached near the little toe" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Fibular polydactyly" RELATED [] synonym: "Polydactyly affecting the 5th toe" EXACT [] synonym: "Postaxial polydactyly of feet" EXACT [] synonym: "Postaxial polydactyly of foot" EXACT [] synonym: "Posterior polydactyly of foot" EXACT [] xref: UMLS:C2112129 xref: UMLS:C4020865 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0010322 ! Abnormal fifth toe morphology is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001831 name: Short toe alt_id: HP:0001767 alt_id: HP:0001781 alt_id: HP:0001855 alt_id: HP:0004701 alt_id: HP:0005889 alt_id: HP:0008099 def: "A toe that appears disproportionately short compared to the foot." [https://orcid.org/0000-0002-0736-9199] comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. subset: hposlim_core synonym: "Brachydactyly of the foot" EXACT [] synonym: "Hypoplasia of the toe" EXACT [] synonym: "Hypoplastic toes" EXACT [] synonym: "Short foot phalanges" EXACT [] synonym: "Short toe" EXACT layperson [] synonym: "Short toes" EXACT layperson [] synonym: "Stubby toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836195 is_a: HP:0001991 ! Aplasia/Hypoplasia of toe is_a: HP:0011927 ! Short digit [Term] id: HP:0001832 name: Abnormal metatarsal morphology def: "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025745 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0001833 name: Long foot alt_id: HP:0008136 alt_id: HP:0008143 def: "Increased back to front length of the foot." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Disproportionately large feet" EXACT layperson [] synonym: "large feet" EXACT layperson [] synonym: "long feet" EXACT layperson [] synonym: "Long foot" EXACT layperson [] xref: SNOMEDCT_US:299462005 xref: UMLS:C0576225 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001836 name: Camptodactyly of toe def: "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Camptodactyly of feet" EXACT [] xref: UMLS:C4021774 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0012385 ! Camptodactyly [Term] id: HP:0001837 name: Broad toe def: "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension." [PMID:19125433] comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. subset: hposlim_core synonym: "Broad toe" EXACT layperson [] synonym: "Wide toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1865038 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001838 name: Rocker bottom foot alt_id: HP:0001835 alt_id: HP:0004693 alt_id: HP:0010218 def: "The presence of both a prominent heel and a convex contour of the sole." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. subset: hposlim_core synonym: "Congenital vertical talus" EXACT [] synonym: "Rocker bottom feet" EXACT layperson [] synonym: "Rocker bottom foot" EXACT layperson [] synonym: "Rocker-bottom feet" EXACT layperson [] synonym: "Rockerbottom feet" EXACT layperson [] xref: MEDDRA:10066242 "Vertical talus" xref: SNOMEDCT_US:205082007 xref: SNOMEDCT_US:205359003 xref: UMLS:C0240912 is_a: HP:0008365 ! Abnormal talus morphology [Term] id: HP:0001839 name: Split foot alt_id: HP:0003062 alt_id: HP:0005904 def: "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Foot ectrodactyly" EXACT [] synonym: "Lobster-claw foot deformity" EXACT layperson [] synonym: "Split foot" EXACT layperson [] synonym: "Split-foot" EXACT layperson [] xref: SNOMEDCT_US:205358006 xref: UMLS:C0432028 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001840 name: Metatarsus adductus alt_id: HP:0001768 alt_id: HP:0010217 def: "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. subset: hposlim_core synonym: "Forefoot varus" EXACT [] synonym: "Front half of foot turns inward" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Intoe" RELATED [] synonym: "Metatarsus adductovarsus" EXACT [] synonym: "Metatarsus varus" EXACT [] synonym: "Sickle foot" EXACT [] synonym: "Sickled feet" EXACT [] xref: SNOMEDCT_US:77599005 xref: UMLS:C0231791 xref: UMLS:C4082169 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0001841 name: Preaxial foot polydactyly alt_id: HP:0009607 alt_id: HP:0010050 def: "Duplication of all or part of the first ray." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. synonym: "Partial/complete duplication of the phalanges of the big toe" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Polydactyly affecting the hallux" EXACT [] synonym: "Preaxial hallucal polydactyly" EXACT [] synonym: "Preaxial polydactyly of feet" EXACT [] synonym: "Preaxial polydactyly of foot" EXACT [] synonym: "Preaxial polydactyly of the feet" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Preaxial polydactyly, feet" EXACT [] xref: UMLS:C1866339 xref: UMLS:C2112942 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001842 name: Foot acroosteolysis synonym: "Acroosteolysis of feet" EXACT [] xref: UMLS:C4025744 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes [Term] id: HP:0001844 name: Abnormal hallux morphology def: "This term applies for all abnormalities of the big toe, also called hallux." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormalities of the hallux" EXACT [] synonym: "Abnormality of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the hallux" EXACT [] xref: UMLS:C4021773 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001845 name: Overlapping toe def: "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. subset: hposlim_core synonym: "Crossover toe" RELATED layperson [] synonym: "Overlapping toe" EXACT layperson [] synonym: "Overlapping toes" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Overriding toes" EXACT layperson [] xref: SNOMEDCT_US:203541003 xref: UMLS:C0920299 is_a: HP:0034398 ! Toe deformity [Term] id: HP:0001847 name: Long hallux alt_id: HP:0001867 def: "Increased length of the big toe." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Increased length of the hallux" EXACT [] synonym: "Large halluces" EXACT [] synonym: "Long big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Long halluces" EXACT [] xref: UMLS:C1864375 is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0010511 ! Long toe [Term] id: HP:0001848 name: Calcaneovalgus deformity alt_id: HP:0001774 alt_id: HP:0008120 def: "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)." [https://orcid.org/0000-0002-0736-9199] comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. synonym: "Calcaneovalgus" EXACT [] synonym: "Calcaneovalgus Foot" EXACT [] synonym: "Foot and ankle bend up toward shin of leg" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Valgus position of the calcaneus" EXACT [] xref: UMLS:C1860450 is_a: HP:0008119 ! Deformed tarsal bones is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0001849 name: Foot oligodactyly alt_id: HP:0001777 def: "A developmental defect resulting in the presence of fewer than the normal number of toes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Missing toes" EXACT layperson [] synonym: "Oligodactyly of feet" EXACT [] xref: SNOMEDCT_US:249820005 xref: UMLS:C0426934 is_a: HP:0010760 ! Absent toe is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001850 name: Abnormality of the tarsal bones def: "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal ankle bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal tarsals" EXACT [] xref: UMLS:C1862136 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0001852 name: Sandal gap def: "A widely spaced gap between the first toe (the great toe) and the second toe." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Gap between 1st and 2nd toes" EXACT layperson [] synonym: "Gap between first and second toe" EXACT layperson [] synonym: "Increased space between first and second toes" EXACT layperson [] synonym: "Sandal gap between first and second toes" EXACT layperson [] synonym: "Space between great toe and second toe" EXACT [] synonym: "Wide space between 1st, 2nd toes" EXACT layperson [] synonym: "Wide space between first and second toes" EXACT layperson [] synonym: "Wide-spaced big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Widely spaced 1st-2nd toes" EXACT layperson [] synonym: "Widely spaced first and second toes" EXACT layperson [] synonym: "Widened gap 1st-2nd toes" EXACT layperson [] synonym: "Widened gap first and second toe" EXACT layperson [] xref: UMLS:C1840069 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001853 name: Bifid distal phalanx of toe alt_id: HP:0005615 synonym: "Bifid distal phalanges of toes" EXACT [] synonym: "Bifid terminal phalanx of toe" EXACT [] synonym: "Notched outermost bones of toes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021772 is_a: HP:0009136 ! Duplication involving bones of the feet [Term] id: HP:0001854 name: Podagra def: "Gout affecting the Metatarsophalangeal joint of big toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Gout of big toe" EXACT [] xref: SNOMEDCT_US:67148009 xref: UMLS:C0221168 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0001997 ! Gout [Term] id: HP:0001857 name: Short distal phalanx of toe def: "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe." [PMID:19125433] comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. synonym: "Hypoplastic distal phalanges of feet" EXACT [] synonym: "Short outermost bone of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021771 is_a: HP:0005035 ! Shortening of all phalanges of the toes is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes [Term] id: HP:0001859 name: Distal foot symphalangism alt_id: HP:0100236 xref: UMLS:C4025743 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001862 name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) is_obsolete: true replaced_by: HP:0006121 [Term] id: HP:0001863 name: Toe clinodactyly def: "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Clinodactyly of feet" EXACT [] synonym: "Toe curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021770 xref: UMLS:C4280587 is_a: HP:0030084 ! Clinodactyly is_a: HP:0100498 ! Deviation of toes [Term] id: HP:0001864 name: Clinodactyly of the 5th toe def: "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Curvature of the little toe" BROAD [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of the pinkie toe" BROAD [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of the pinky toe" BROAD [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025741 xref: UMLS:C4280586 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010344 ! Deviation of the 5th toe [Term] id: HP:0001868 name: Autoamputation of foot def: "The spontaneous detachment of a foot from the body due to long standing pathology." [https://orcid.org/0000-0002-0736-9199, PMID:31633102] xref: UMLS:C4025740 is_a: HP:0001218 ! Autoamputation is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001869 name: Deep plantar creases def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Deep wrinkles in soles of feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1857953 is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0001870 name: Acroosteolysis of distal phalanges (feet) synonym: "Acroosteolysis of distal phalanges of feet" EXACT [] xref: UMLS:C4025739 is_a: HP:0001842 ! Foot acroosteolysis is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes [Term] id: HP:0001871 name: Abnormality of blood and blood-forming tissues alt_id: HP:0003135 def: "An abnormality of the hematopoietic system." [https://orcid.org/0000-0002-0736-9199] comment: The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. synonym: "Abnormality of blood and blood-forming tissues" EXACT layperson [] synonym: "Abnormality of the haematopoietic system" EXACT uk_spelling [] synonym: "Abnormality of the hematopoietic system" EXACT [] synonym: "Haematological abnormality" EXACT uk_spelling [] synonym: "Hematologic disease" RELATED [] synonym: "Hematological abnormality" EXACT [] xref: SNOMEDCT_US:191124002 xref: SNOMEDCT_US:34093004 xref: UMLS:C0018939 xref: UMLS:C0850715 xref: UMLS:C4020864 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001872 name: Abnormality of thrombocytes alt_id: HP:0004807 alt_id: HP:0005554 def: "An abnormality of platelets." [https://orcid.org/0000-0002-0736-9199] comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. synonym: "Blood platelet disease" RELATED [] synonym: "Platelet abnormalities" EXACT layperson [] synonym: "Thrombasthenia" RELATED [] xref: SNOMEDCT_US:127566005 xref: SNOMEDCT_US:32942005 xref: UMLS:C0040015 xref: UMLS:C0151854 xref: UMLS:C4020863 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001873 name: Thrombocytopenia alt_id: HP:0001906 alt_id: HP:0004838 alt_id: HP:0008175 alt_id: HP:0008268 alt_id: HP:0008302 def: "A reduction in the number of circulating thrombocytes." [https://orcid.org/0000-0002-0736-9199] comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). synonym: "Low platelet count" EXACT layperson [] xref: SNOMEDCT_US:302215000 xref: SNOMEDCT_US:415116008 xref: UMLS:C0040034 xref: UMLS:C0392386 is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001874 name: Abnormality of neutrophils def: "A neutrophil abnormality." [https://orcid.org/0000-0002-0736-9199, PMID:21094463, PMID:26819959] comment: Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day. synonym: "Abnormality of neutrophil" EXACT [] synonym: "Abnormality of neutrophils" EXACT layperson [] synonym: "Abnormality of polymorphonuclear neutrophils" EXACT [] xref: SNOMEDCT_US:250274006 xref: UMLS:C0427515 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001875 name: Decreased total neutrophil count alt_id: HP:0005515 alt_id: HP:0005533 def: "Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0002-0736-9199, PMID:25642312] comment: Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood. synonym: "Low blood neutrophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Low neutrophil count" EXACT layperson [] synonym: "Neutropenia" EXACT [] synonym: "Neutropoenia" EXACT uk_spelling [] synonym: "Peripheral neutropenia" EXACT [] xref: SNOMEDCT_US:165517008 xref: UMLS:C0853697 is_a: HP:0011991 ! Abnormal total neutrophil count [Term] id: HP:0001876 name: Pancytopenia def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood cell count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pancytopaenia" EXACT uk_spelling [] xref: SNOMEDCT_US:127034005 xref: UMLS:C0030312 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001877 name: Abnormal erythrocyte morphology alt_id: HP:0010973 def: "Any structural abnormality of erythrocytes (red-blood cells)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of erythrocytes" EXACT [] synonym: "Abnormality of erythroid lineage cell" RELATED [] synonym: "Abnormality of red blood cells" EXACT [] xref: SNOMEDCT_US:12222001 xref: UMLS:C0391870 xref: UMLS:C4020862 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001878 name: Hemolytic anemia alt_id: HP:0001910 alt_id: HP:0004827 alt_id: HP:0004853 alt_id: HP:0004868 alt_id: HP:0005503 def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [https://orcid.org/0000-0002-0736-9199] comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. synonym: "Haemolytic anaemia" EXACT uk_spelling [] synonym: "Haemolytic anemia" EXACT [] synonym: "Hemolytic anaemia" EXACT uk_spelling [] synonym: "Increased hemolysis" EXACT [] xref: SNOMEDCT_US:61261009 xref: UMLS:C0002878 is_a: HP:0011895 ! Anemia due to reduced life span of red cells [Term] id: HP:0001879 name: Abnormal eosinophil morphology def: "An abnormal count or structure of eosinophils." [https://orcid.org/0000-0002-0736-9199, PMID:23154224] comment: Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. synonym: "Abnormality of eosinophils" EXACT [] xref: UMLS:C4025738 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001880 name: Increased total eosinophil count def: "Increased count of eosinophils in the blood." [https://orcid.org/0009-0006-4530-3154] synonym: "Eosinophilia" EXACT [] synonym: "High blood eosinophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased eosinophil count" EXACT [] xref: UMLS:C0014457 is_a: HP:0020064 ! Abnormal total eosinophil count [Term] id: HP:0001881 name: Abnormal leukocyte morphology def: "An abnormality of leukocytes." [https://orcid.org/0000-0002-0736-9199] comment: Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. synonym: "Abnormality of leukocytes" EXACT [] xref: SNOMEDCT_US:134199001 xref: SNOMEDCT_US:24827003 xref: UMLS:C0152009 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0010987 ! Abnormal cellular immune system morphology [Term] id: HP:0001882 name: Decreased total leukocyte count def: "An abnormal decreased number of leukocytes in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased blood leukocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Leukopenia" EXACT [] synonym: "Low white blood cell count" EXACT layperson [] xref: SNOMEDCT_US:84828003 xref: UMLS:C0023530 is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0001883 name: Talipes def: "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [https://orcid.org/0009-0006-4530-3154] comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes. (1) Talipes equinovarus - the foot is pointing inwards and down (the most common form), (2) Talipes equinovalgus - where the foot points outwards and down, (3) Talipes calcaneovarus - where the foot points inwards and up, (4) Talipes calcaneovalgus - where the foot points inwards and down. synonym: "Talipes foot deformities" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:398309008 xref: UMLS:C1301937 xref: UMLS:C3552713 is_a: HP:0005656 ! Positional foot deformity [Term] id: HP:0001884 name: Talipes calcaneovalgus def: "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [https://orcid.org/0000-0002-0736-9199] synonym: "Pes calcaneovarus" EXACT [] xref: SNOMEDCT_US:205083002 xref: SNOMEDCT_US:31668003 xref: UMLS:C0152237 is_a: HP:0001883 ! Talipes [Term] id: HP:0001885 name: Short 2nd toe def: "Underdevelopment (hypoplasia) of the second toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Short second toe" EXACT layperson [] xref: UMLS:C4021769 is_a: HP:0001831 ! Short toe [Term] id: HP:0001886 name: Foot osteomyelitis def: "An infection of bone of the foot." [] synonym: "Foot bone infection" EXACT layperson [] xref: UMLS:C4025737 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0001888 name: Decreased total lymphocyte count def: "A reduced number of lymphocytes in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Absolute lymphocyte count decrease" EXACT [] synonym: "Decreased blood lymphocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Low lymphocyte number" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Lymphocytopenia" EXACT [] synonym: "Lymphopenia" EXACT [] xref: SNOMEDCT_US:48813009 xref: UMLS:C0024312 is_a: HP:0040088 ! Abnormal lymphocyte count [Term] id: HP:0001889 name: Megaloblastic anemia alt_id: HP:0004858 def: "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [https://orcid.org/0000-0002-0736-9199] comment: Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. synonym: "Megaloblastic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:53165003 xref: UMLS:C0002888 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0001890 name: Autoimmune hemolytic anemia def: "An autoimmune form of hemolytic anemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Autoimmune haemolytic anaemia" EXACT uk_spelling [] synonym: "Autoimmune haemolytic anemia" EXACT [] synonym: "Autoimmune hemolytic anaemia" EXACT uk_spelling [] synonym: "Hemolytic anemia, autoimmune" EXACT [] xref: SNOMEDCT_US:413603009 xref: UMLS:C0002880 is_a: HP:0001878 ! Hemolytic anemia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001891 name: Iron deficiency anemia synonym: "Ferropenic" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Iron deficiency anaemia" EXACT uk_spelling [] synonym: "Iron-deficiency anaemia" EXACT uk_spelling [] synonym: "Iron-deficiency anemia" EXACT [] xref: SNOMEDCT_US:87522002 xref: UMLS:C0162316 is_a: HP:0001931 ! Hypochromic anemia [Term] id: HP:0001892 name: Abnormal bleeding alt_id: HP:0004830 alt_id: HP:0004834 alt_id: HP:0004849 alt_id: HP:0004862 alt_id: HP:0004865 alt_id: HP:0008183 def: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [https://orcid.org/0000-0002-0736-9199] comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. synonym: "Bleeding diathesis" EXACT [] synonym: "Bleeding tendency" EXACT layperson [] synonym: "Hemorrhagic diathesis" EXACT [] xref: SNOMEDCT_US:248250000 xref: SNOMEDCT_US:64779008 xref: UMLS:C1458140 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001894 name: Thrombocytosis def: "Increased numbers of platelets in the peripheral blood." [https://orcid.org/0000-0002-0736-9199] comment: Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. synonym: "Increased number of platelets in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Increased platelet count" EXACT [] synonym: "Thrombocythaemia" RELATED [] synonym: "Thrombocythemia" RELATED [] xref: SNOMEDCT_US:415115007 xref: SNOMEDCT_US:6631009 xref: UMLS:C0836924 xref: UMLS:C0857460 is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001895 name: Normochromic anemia synonym: "Normochromic anaemia" EXACT uk_spelling [] xref: UMLS:C0235983 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001896 name: Reticulocytopenia def: "A reduced number of reticulocytes in the peripheral blood." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:124961001 xref: UMLS:C0858867 is_a: HP:0004312 ! Abnormal reticulocyte morphology [Term] id: HP:0001897 name: Normocytic anemia def: "A kind of anemia in which the volume of the red blood cells is normal." [https://orcid.org/0000-0002-0736-9199] comment: In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). synonym: "Normocytic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:300980002 xref: UMLS:C0085577 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001898 name: Increased red blood cell mass def: "The presence of an increased mass of red blood cells in the circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased RBC mass" EXACT abbreviation [] xref: UMLS:C1853288 is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001899 name: Increased hematocrit def: "An elevation above the normal ratio of the volume of red blood cells to the total volume of blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased Hct" EXACT abbreviation [] xref: UMLS:C0239935 is_a: HP:0031850 ! Abnormal hematocrit [Term] id: HP:0001900 name: Increased circulating hemoglobin concentration alt_id: HP:0020063 def: "Concentration of hemoglobin in the blood circulation above the upper limit of normal." [] synonym: "Increased haemoglobin" EXACT uk_spelling [] synonym: "Increased haemoglobin concentration" EXACT uk_spelling [] synonym: "Increased Hb" EXACT abbreviation [] synonym: "Increased Hb concentration" EXACT abbreviation [] synonym: "Increased hemoglobin" EXACT [] synonym: "Increased hemoglobin concentration" EXACT [] xref: SNOMEDCT_US:131141003 xref: UMLS:C0549448 is_a: HP:0001901 ! Polycythemia is_a: HP:0020061 ! Abnormal hemoglobin concentration [Term] id: HP:0001901 name: Polycythemia alt_id: HP:0001893 def: "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormally shaped erythrocytes" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Erythrocytosis" EXACT [] synonym: "Increased red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Polyglobulia" EXACT [] xref: SNOMEDCT_US:109992005 xref: SNOMEDCT_US:127062003 xref: UMLS:C0032461 xref: UMLS:C1527405 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0001902 name: Giant platelets def: "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)." [https://orcid.org/0000-0002-0736-9199] comment: This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly. xref: SNOMEDCT_US:44687006 xref: UMLS:C0333864 is_a: HP:0011877 ! Increased mean platelet volume [Term] id: HP:0001903 name: Anemia alt_id: HP:0001926 alt_id: HP:0003136 alt_id: HP:0005509 def: "A reduction in erythrocytes volume or hemoglobin concentration." [https://orcid.org/0000-0002-0736-9199] comment: Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. synonym: "Anaemia" EXACT [] synonym: "Decreased haemoglobin" RELATED uk_spelling [] synonym: "Decreased hemoglobin" RELATED [] synonym: "Low number of red blood cells or haemoglobin" EXACT uk_spelling [] synonym: "Low number of red blood cells or hemoglobin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:165397008 xref: SNOMEDCT_US:271737000 xref: UMLS:C0002871 xref: UMLS:C0162119 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0001904 name: Autoimmune neutropenia def: "Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies." [https://orcid.org/0000-0002-0736-9199, PMID:25642312] comment: The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction. synonym: "Neutropenia in presence of anti-neutropil antibodies" EXACT [] xref: SNOMEDCT_US:234425008 xref: UMLS:C0340971 is_a: HP:0001875 ! Decreased total neutrophil count is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001905 name: Congenital thrombocytopenia alt_id: HP:0004869 def: "Thrombocytopenia with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "thrombocytopenia, congenital" EXACT [] xref: UMLS:C0272278 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001907 name: Thromboembolism def: "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in blood vessel" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200] synonym: "Embolism and thrombosis" RELATED [] synonym: "Thromboembolic disease" EXACT [] synonym: "Thromboembolic events" EXACT [] xref: SNOMEDCT_US:13713005 xref: SNOMEDCT_US:371039008 xref: UMLS:C0040038 xref: UMLS:C0085307 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0001908 name: Hypoplastic anemia def: "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:167923006 xref: SNOMEDCT_US:41614006 xref: UMLS:C0178416 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001909 name: Leukemia alt_id: HP:0005519 alt_id: HP:0006726 def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [https://orcid.org/0000-0002-0736-9199, NCIT:C3161] synonym: "Blood cancer" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Leukaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:129154003 xref: SNOMEDCT_US:269475001 xref: SNOMEDCT_US:87163000 xref: SNOMEDCT_US:93143009 xref: UMLS:C0023418 xref: UMLS:C0376545 is_a: HP:0001881 ! Abnormal leukocyte morphology is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0001911 name: Abnormal granulocyte morphology alt_id: HP:0005438 def: "Any structural abnormality or abnormal count of granulocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of granulocytes" EXACT [] xref: SNOMEDCT_US:250274006 xref: UMLS:C0427515 is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology [Term] id: HP:0001912 name: Abnormal basophil morphology def: "Any structural abnormality or abnormal count of basophils." [https://orcid.org/0000-0002-0736-9199, PMID:24075190] comment: Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies. synonym: "Abnormality of basophils" EXACT [] xref: UMLS:C4025736 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001913 name: Decreased total granulocyte count def: "Abnormal decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0002-0736-9199] synonym: "Granulocytopenia" EXACT [] xref: SNOMEDCT_US:17182001 xref: SNOMEDCT_US:417672002 xref: UMLS:C0001824 is_a: HP:0032309 ! Abnormal granulocyte count [Term] id: HP:0001915 name: Aplastic anemia def: "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [https://orcid.org/0000-0002-0736-9199, PMID:21239768] comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. synonym: "Aplastic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:304132006 xref: SNOMEDCT_US:306058006 xref: UMLS:C0002874 is_a: HP:0001876 ! Pancytopenia [Term] id: HP:0001917 name: Renal amyloidosis def: "A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856)." [https://orcid.org/0000-0002-0736-9199, PMID:25852856] comment: In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid. xref: SNOMEDCT_US:48713002 xref: UMLS:C0268382 is_a: HP:0011034 ! Amyloidosis is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0001919 name: Acute kidney injury def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [https://orcid.org/0000-0002-0736-9199] comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. synonym: "Acute kidney failure" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Acute renal failure" EXACT [] synonym: "AKI" EXACT abbreviation [] xref: SNOMEDCT_US:14350001000004108 xref: SNOMEDCT_US:14669001 xref: UMLS:C0022660 xref: UMLS:C2609414 is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0001920 name: Renal artery stenosis def: "The presence of stenosis of the renal artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of kidney artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:2634 xref: SNOMEDCT_US:282664001 xref: SNOMEDCT_US:302233006 xref: UMLS:C0035067 is_a: HP:0008776 ! Abnormal renal artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001922 name: Vacuolated lymphocytes alt_id: HP:0008147 alt_id: HP:0008329 def: "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm." [https://orcid.org/0000-0002-0736-9199, PMID:20633042] comment: Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. synonym: "Enlarged lysosomal vacuoles in lymphocytes" EXACT [] synonym: "Vacuolated blood lymphocytes" EXACT [] xref: UMLS:C1836855 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0001923 name: Reticulocytosis def: "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased immature red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Increased number of immature red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Increased reticulocyte count" EXACT [] synonym: "Increased reticulocytes" EXACT [] xref: SNOMEDCT_US:46049004 xref: UMLS:C0206160 is_a: HP:0004312 ! Abnormal reticulocyte morphology [Term] id: HP:0001924 name: Sideroblastic anemia alt_id: HP:0100791 def: "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." [https://orcid.org/0000-0002-0736-9199] comment: Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. synonym: "Hypersideremic anaemia" EXACT uk_spelling [] synonym: "Hypersideremic anemia" EXACT [] synonym: "Sideroblastic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:41841004 xref: UMLS:C0002896 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001927 name: Acanthocytosis alt_id: HP:0005552 def: "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acanthocytes" EXACT [] synonym: "Red cell acanthocytosis" EXACT [] xref: SNOMEDCT_US:250249008 xref: UMLS:C0687751 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001928 name: Abnormality of coagulation def: "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Blood coagulation disorder" RELATED [] synonym: "Coagulation abnormalities" EXACT [] synonym: "Coagulation abnormality" EXACT [] synonym: "Haemorrhagic disorders" EXACT [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:362970003 xref: SNOMEDCT_US:64779008 xref: UMLS:C0005779 xref: UMLS:C0019087 xref: UMLS:C1846821 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001929 name: Reduced factor XI activity def: "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." [https://orcid.org/0000-0002-0736-9199] synonym: "Factor XI deficiency" RELATED [] synonym: "Low factor XI activity" EXACT [] xref: SNOMEDCT_US:49762007 xref: UMLS:C0015523 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0001930 name: Nonspherocytic hemolytic anemia synonym: "Nonspherocytic hemolytic anaemia" EXACT uk_spelling [] xref: UMLS:C4025735 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001931 name: Hypochromic anemia def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [https://orcid.org/0000-0002-0736-9199] comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). synonym: "Hypochromic anemia" EXACT [] xref: SNOMEDCT_US:44452003 xref: UMLS:C0002884 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001933 name: Subcutaneous hemorrhage def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [https://orcid.org/0000-0002-0736-9199] comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. synonym: "Bleeding below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subcutaneous haemorrhage" EXACT uk_spelling [] xref: UMLS:C0854107 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011276 ! Vascular skin abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-28T07:14:00Z [Term] id: HP:0001934 name: Persistent bleeding after trauma alt_id: HP:0007463 synonym: "Excessive bleeding after minor trauma" EXACT layperson [] synonym: "Frequent bleeding with trauma" EXACT layperson [] synonym: "Prolonged bleeding after minor trauma" EXACT layperson [] xref: UMLS:C1844374 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0001935 name: Microcytic anemia def: "A kind of anemia in which the volume of the red blood cells is reduced." [https://orcid.org/0000-0002-0736-9199] comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). synonym: "Microcytic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:234349007 xref: UMLS:C0085576 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001937 name: Microangiopathic hemolytic anemia synonym: "Microangiopathic hemolytic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:51071000 xref: UMLS:C0221021 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001939 name: Abnormality of metabolism/homeostasis alt_id: HP:0002146 alt_id: HP:0004355 alt_id: HP:0004367 synonym: "Laboratory abnormality" EXACT layperson [] synonym: "Metabolism abnormality" EXACT layperson [] xref: UMLS:C4021768 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001941 name: Acidosis alt_id: HP:0001940 def: "Abnormal acid accumulation or depletion of base." [https://orcid.org/0000-0002-0736-9199, PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. xref: SNOMEDCT_US:51387008 xref: UMLS:C0001122 is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001942 name: Metabolic acidosis alt_id: HP:0004895 alt_id: HP:0004907 def: "Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause." [https://orcid.org/0000-0002-0736-9199, PMID:17936961, PMID:31418093] comment: The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. xref: SNOMEDCT_US:59455009 xref: UMLS:C0220981 is_a: HP:0001941 ! Acidosis [Term] id: HP:0001943 name: Hypoglycemia alt_id: HP:0003356 def: "A decreased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoglycaemia" EXACT [] synonym: "Low blood sugar" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:237630007 xref: SNOMEDCT_US:271327008 xref: SNOMEDCT_US:302866003 xref: UMLS:C0020615 is_a: HP:0011015 ! Abnormal blood glucose concentration [Term] id: HP:0001944 name: Dehydration synonym: "Dehydration" EXACT layperson [] synonym: "Exsiccosis" EXACT [] xref: SNOMEDCT_US:34095006 xref: UMLS:C0011175 is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0001945 name: Fever def: "Body temperature elevated above the normal range." [https://orcid.org/0009-0006-4530-3154, PMID:9759682] comment: Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. synonym: "Fever" EXACT layperson [] synonym: "Hyperthermia" EXACT [] synonym: "Pyrexia" EXACT [] xref: SNOMEDCT_US:386661006 xref: SNOMEDCT_US:50177009 xref: UMLS:C0015967 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0001946 name: Ketosis alt_id: HP:0003543 def: "Presence of elevated levels of ketone bodies in the body." [https://orcid.org/0000-0002-0736-9199, PMID:28278308] comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate. synonym: "High levels of ketone bodies" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperketosis" EXACT [] xref: SNOMEDCT_US:213281004 xref: SNOMEDCT_US:2538008 xref: UMLS:C0022638 xref: UMLS:C0235430 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001947 name: Renal tubular acidosis def: "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Accumulation of acid in body due to kidney problem" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:1776003 xref: UMLS:C0001126 is_a: HP:0000124 ! Renal tubular dysfunction is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0001948 name: Alkalosis def: "Depletion of acid or accumulation base in the body fluids." [https://orcid.org/0000-0002-0736-9199, PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. xref: SNOMEDCT_US:21420006 xref: UMLS:C0002063 is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001949 name: Hypokalemic alkalosis xref: SNOMEDCT_US:22774003 xref: UMLS:C0085570 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001950 name: Respiratory alkalosis def: "Alkalosis due to excess loss of carbon dioxide from the body." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111378004 xref: UMLS:C0002064 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001951 name: Episodic ammonia intoxication xref: UMLS:C1839541 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0001952 name: Glucose intolerance alt_id: HP:0000833 def: "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)." [PMID:29763085] synonym: "Abnormal glucose tolerance" BROAD [] synonym: "Glucose intolerance" EXACT layperson [] xref: UMLS:C0235401 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0001953 name: Diabetic ketoacidosis alt_id: HP:0008253 def: "A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [https://orcid.org/0000-0002-0736-9199] synonym: "Diabetic ketosis" EXACT [] xref: SNOMEDCT_US:420422005 xref: UMLS:C0011880 is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0001954 name: Recurrent fever alt_id: HP:0004903 alt_id: HP:0005962 alt_id: HP:0005966 alt_id: HP:0005980 def: "Periodic (episodic or recurrent) bouts of fever." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic fever" EXACT layperson [] synonym: "Hyperthermia, episodic" EXACT [] synonym: "Increased body temperature, episodic" EXACT layperson [] synonym: "Intermittent fever" EXACT layperson [] xref: SNOMEDCT_US:77957000 xref: UMLS:C0277799 is_a: HP:0001945 ! Fever [Term] id: HP:0001955 name: Unexplained fevers def: "Episodes of fever for which no infectious cause can be identified." [https://orcid.org/0000-0002-0736-9199] synonym: "Unexplained fevers" EXACT layperson [] xref: UMLS:C1844662 is_a: HP:0001945 ! Fever [Term] id: HP:0001956 name: Truncal obesity alt_id: HP:0008885 def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Centripetal obesity" EXACT [] synonym: "Truncal obesity" EXACT layperson [] xref: SNOMEDCT_US:248311001 xref: UMLS:C0311277 is_a: HP:0001513 ! Obesity [Term] id: HP:0001958 name: Nonketotic hypoglycemia xref: UMLS:C1865292 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001959 name: Polydipsia def: "Excessive thirst manifested by excessive fluid intake." [] synonym: "Extreme thirst" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:17173007 xref: SNOMEDCT_US:267026004 xref: UMLS:C0085602 is_a: HP:0030082 ! Abnormal drinking behavior [Term] id: HP:0001960 name: Hypokalemic metabolic alkalosis xref: UMLS:C0740898 is_a: HP:0001949 ! Hypokalemic alkalosis is_a: HP:0200114 ! Metabolic alkalosis [Term] id: HP:0001961 name: Hypoplastic heart synonym: "Small heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3151525 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001962 name: Palpitations alt_id: HP:0001676 def: "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [https://orcid.org/0000-0002-0736-9199] synonym: "Heart palpitations" EXACT [] synonym: "Missed heart beat" EXACT layperson [] synonym: "Palpitations" EXACT layperson [] synonym: "Skipped heart beat" EXACT layperson [] xref: SNOMEDCT_US:80313002 xref: UMLS:C0030252 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001963 name: Abnormal speech discrimination def: "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal speech discrimination" EXACT layperson [] synonym: "Poor speech discrimination" EXACT layperson [] xref: UMLS:C1836752 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0001964 name: Aplasia/Hypoplasia of metatarsal bones def: "Absence or underdevelopment of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent or hypoplastic metatarsal" EXACT [] synonym: "Absent/hypoplastic metacarpals" EXACT [] synonym: "Absent/hypoplastic metatarsals" EXACT [] synonym: "Absent/small long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic/hypoplastic metatarsals" EXACT [] xref: UMLS:C1860182 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001965 name: Abnormal scalp morphology def: "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows." [https://orcid.org/0000-0002-0736-9199] comment: The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. synonym: "Abnormality of the scalp" EXACT layperson [] synonym: "Anomaly of scalp" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025734 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0001966 name: Abnormal glomerular mesangium morphology def: "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries." [https://orcid.org/0000-0002-0736-9199, PMID:19470685, PMID:20828589] comment: Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. synonym: "Abnormality glomerular mesangium morphology" EXACT [] synonym: "Abnormality of the glomerular mesangium" EXACT [] synonym: "Mesangial abnormality" EXACT [] xref: UMLS:C4025733 is_a: HP:0000095 ! Abnormal renal glomerulus morphology [Term] id: HP:0001967 name: Diffuse mesangial sclerosis alt_id: HP:0004728 def: "Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas." [https://orcid.org/0000-0002-0736-9199, PMID:26408240] synonym: "Diffuse mesangial sclerosis glomerulopathy" EXACT [] synonym: "Mesangial sclerosis" EXACT [] xref: SNOMEDCT_US:111406002 xref: UMLS:C0268747 is_a: HP:0001966 ! Abnormal glomerular mesangium morphology [Term] id: HP:0001969 name: Abnormal tubulointerstitial morphology alt_id: HP:0008654 def: "An abnormality that involves the tubules and interstitial tissue of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Tubulointerstitial abnormality" EXACT [] synonym: "Tubulointerstitial nephropathy" RELATED [] xref: SNOMEDCT_US:28689008 xref: SNOMEDCT_US:428255004 xref: UMLS:C0041349 xref: UMLS:C4025732 is_a: HP:0000091 ! Abnormal renal tubule morphology is_a: HP:0032581 ! Abnormal renal insterstitial morphology [Term] id: HP:0001970 name: Tubulointerstitial nephritis def: "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199] synonym: "Interstitial nephritis" EXACT [] synonym: "Nephritis, Tubulointerstitial" EXACT [] xref: SNOMEDCT_US:28689008 xref: SNOMEDCT_US:428255004 xref: UMLS:C0041349 is_a: HP:0001969 ! Abnormal tubulointerstitial morphology [Term] id: HP:0001971 name: Hypersplenism def: "A malfunctioning of the spleen in which it prematurely destroys red blood cells." [https://orcid.org/0000-0002-0736-9199] comment: The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly). xref: SNOMEDCT_US:58381000 xref: UMLS:C0020532 is_a: HP:0025409 ! Abnormal spleen physiology [Term] id: HP:0001972 name: Macrocytic anemia def: "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)." [https://orcid.org/0000-0002-0736-9199, PMID:19202968] comment: The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. synonym: "Macrocytic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:83414005 xref: UMLS:C0002886 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001973 name: Autoimmune thrombocytopenia alt_id: HP:0001936 alt_id: HP:0004806 alt_id: HP:0004829 def: "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies." [https://orcid.org/0000-0002-7744-1790] comment: Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. synonym: "Idiopathic thrombocytopenia" EXACT [] synonym: "Idiopathic thrombocytopenic purpura" RELATED [] synonym: "Immune thrombocytopenia" EXACT [] xref: SNOMEDCT_US:128091003 xref: SNOMEDCT_US:13172003 xref: SNOMEDCT_US:234490009 xref: SNOMEDCT_US:32273002 xref: UMLS:C0242584 xref: UMLS:C0398650 xref: UMLS:C0920163 is_a: HP:0001873 ! Thrombocytopenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001974 name: Increased total leukocyte count def: "An abnormal increase in the number of leukocytes in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated white blood count" EXACT layperson [] synonym: "High white blood count" EXACT layperson [] synonym: "Increased blood leukocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Leukocytosis" EXACT [] xref: SNOMEDCT_US:111583006 xref: UMLS:C0023518 is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0001975 name: Decreased platelet glycoprotein IIb-IIIa def: "Decreased cell membrane concentration of glycoprotein IIb-IIIa." [https://orcid.org/0000-0002-7744-1790] comment: The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. synonym: "Glanzmann thrombasthenia" RELATED [] synonym: "Reduced level of platelet glycoprotein IIb/IIIa complex" EXACT [] xref: SNOMEDCT_US:32942005 xref: UMLS:C0040015 xref: UMLS:C4021767 is_a: HP:0011878 ! Abnormal platelet membrane protein expression [Term] id: HP:0001976 name: Reduced antithrombin III activity def: "An abnormality of coagulation related to a decreased concentration of antithrombin-III." [https://orcid.org/0000-0002-0736-9199] comment: Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. synonym: "Anti-thrombin III deficiency" EXACT [] synonym: "Antithrombin III deficiency" EXACT [] synonym: "Decreased antithrombin III" EXACT [] xref: SNOMEDCT_US:36351005 xref: UMLS:C0272375 is_a: HP:0010988 ! Abnormality of the extrinsic pathway is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0001977 name: Abnormal thrombosis def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood clot" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormal blood clotting" EXACT [] xref: UMLS:C4025731 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001978 name: Extramedullary hematopoiesis alt_id: HP:0004847 def: "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms." [https://orcid.org/0000-0002-0736-9199, PMID:27377325, PMID:28101170] comment: During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. Some pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. The most common causes of Extramedullary hematopoieses (EMH) are myelofibrosis, diffuse osseous metastatic disease replacing the bone marrow, leukemia, sickle-cell anemia, and thalassemia. EMH is usually microscopic and asymptomatic, but it can sometimes manifest as organomegaly and tumor-like masses. Rarely, it can cause cord compression, pleural effusion, massive hemothorax, and respiratory failure. synonym: "Extramedullary erythropoiesis" RELATED [] xref: SNOMEDCT_US:124958002 xref: SNOMEDCT_US:42952007 xref: UMLS:C1292120 xref: UMLS:C2613439 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001980 name: Megaloblastic bone marrow def: "Abnormal increased number of megaloblasts in the bone marrow." [https://orcid.org/0000-0002-0736-9199] comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. xref: SNOMEDCT_US:167921008 xref: UMLS:C0238801 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001981 name: Schistocytosis def: "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Schistocytes" EXACT [] xref: SNOMEDCT_US:385472000 xref: UMLS:C0344386 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001982 name: Sea-blue histiocytosis def: "An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa." [https://orcid.org/0000-0002-0736-9199, PMID:8797061] synonym: "Sea-blue histiocyte" EXACT [] xref: SNOMEDCT_US:37821003 xref: UMLS:C0036489 is_a: HP:0004311 ! Abnormal macrophage morphology [Term] id: HP:0001983 name: Reduced lymphocyte surface expression of CD43 def: "A reduction in the expression of CD43 on the cell surface of lymphocytes." [https://orcid.org/0000-0002-0736-9199] comment: CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes. synonym: "Cd43 defectively expressed on surface of blood cells" EXACT [] synonym: "Reduced lymphocyte surface expression of sialophorin" EXACT [] xref: UMLS:C4021766 is_a: HP:0031383 ! Abnormal lymphocyte surface marker expression [Term] id: HP:0001984 name: Intolerance to protein xref: UMLS:C1396243 is_a: HP:0012537 ! Food intolerance [Term] id: HP:0001985 name: Hypoketotic hypoglycemia alt_id: HP:0005969 def: "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [https://orcid.org/0000-0002-0736-9199] comment: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. synonym: "Hypoglycemia, hypoketotic" EXACT [] xref: UMLS:C1856438 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001986 name: Hypertonic dehydration synonym: "Hyperosmolar dehydration" EXACT [] xref: UMLS:C1112601 is_a: HP:0001944 ! Dehydration [Term] id: HP:0001987 name: Hyperammonemia alt_id: HP:0008308 alt_id: HP:0008334 def: "An increased concentration of ammonia in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "High blood ammonia levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:9360008 xref: UMLS:C0220994 is_a: HP:0002157 ! Azotemia [Term] id: HP:0001988 name: Recurrent hypoglycemia def: "Recurrent episodes of decreased concentration of glucose in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "hypoglycaemia, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "hypoglycemia, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Hypoglycemic episodes" EXACT [] synonym: "Recurrent hypoglycaemia" EXACT [] synonym: "Recurrent hypoglycemic episodes" EXACT [] synonym: "Recurrent low blood sugar levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846288 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001989 name: Fetal akinesia sequence def: "Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Early severe fetal akinesia sequence" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Early severe foetal akinesia sequence" RELATED uk_spelling [] synonym: "Fetal akinesia" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Foetal akinesia" RELATED uk_spelling [] synonym: "Foetal akinesia sequence" EXACT uk_spelling [] xref: SNOMEDCT_US:401138005 xref: UMLS:C1276035 xref: UMLS:C3151520 is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0001991 name: Aplasia/Hypoplasia of toe def: "Absence or hypoplasia of toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic toes" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Absent/small toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic/hypoplastic toe phalanges" EXACT [] xref: UMLS:C3551148 is_a: HP:0001780 ! Abnormal toe morphology is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001992 name: Organic aciduria def: "Excretion of non-amino organic acids in urine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0241775 is_a: HP:0012072 ! Aciduria [Term] id: HP:0001993 name: Ketoacidosis def: "Acidosis resulting from accumulation of ketone bodies." [https://orcid.org/0000-0002-0736-9199] comment: Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. xref: SNOMEDCT_US:56051008 xref: UMLS:C0220982 is_a: HP:0001941 ! Acidosis is_a: HP:0001946 ! Ketosis [Term] id: HP:0001994 name: Renal Fanconi syndrome def: "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [https://orcid.org/0000-0002-0736-9199] synonym: "De toni-fanconi-debre syndrome" EXACT [] synonym: "Renal tubular fanconi syndrome" EXACT [] xref: SNOMEDCT_US:236468006 xref: SNOMEDCT_US:44673006 xref: UMLS:C0341703 is_a: HP:0001947 ! Renal tubular acidosis is_a: HP:0011038 ! Abnormal renal tubular resorption [Term] id: HP:0001995 name: Hyperchloremic acidosis def: "Acidosis (pH less than 7.35) that develops with an increase in ionic chloride." [PMID:29493965] xref: SNOMEDCT_US:18104000 xref: UMLS:C0085569 is_a: HP:0001941 ! Acidosis [Term] id: HP:0001996 name: Chronic metabolic acidosis def: "Longstanding metabolic acidosis." [https://orcid.org/0000-0002-0736-9199, PMID:15882309] comment: Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function. xref: UMLS:C0740749 is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0012468 ! Chronic acidosis [Term] id: HP:0001997 name: Gout alt_id: HP:0001368 def: "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues." [https://orcid.org/0009-0006-4530-3154] synonym: "Gouty arthritis" EXACT [] xref: SNOMEDCT_US:170733007 xref: SNOMEDCT_US:190828008 xref: SNOMEDCT_US:48440001 xref: SNOMEDCT_US:90560007 xref: UMLS:C0003868 xref: UMLS:C0018099 is_a: HP:0001369 ! Arthritis [Term] id: HP:0001998 name: Neonatal hypoglycemia synonym: "Low blood sugar in newborn" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:52767006 xref: UMLS:C0158986 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001999 name: Abnormal facial shape alt_id: HP:0002004 alt_id: HP:0002260 alt_id: HP:0004643 alt_id: HP:0004649 alt_id: HP:0004652 alt_id: HP:0004655 alt_id: HP:0004675 alt_id: HP:0005124 def: "An abnormal morphology (form) of the face or its components." [https://orcid.org/0000-0002-9602-2321] comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. subset: hposlim_core synonym: "Abnormal facial shape" EXACT layperson [] synonym: "Abnormal morphology of the face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Distinctive facies" EXACT [] synonym: "Distortion of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dysmorphic facial features" EXACT [] synonym: "Dysmorphic facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial dysmorphism" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Funny looking face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unusual facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unusual facies" EXACT [] xref: SNOMEDCT_US:248200007 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 xref: SNOMEDCT_US:398302004 xref: UMLS:C0266617 xref: UMLS:C0424503 xref: UMLS:C1385263 xref: UMLS:C4072832 xref: UMLS:C4072833 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002000 name: Short columella def: "Reduced distance from the anterior border of the naris to the subnasale." [PMID:19152422] comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. subset: hposlim_core synonym: "Columella, short" EXACT [] synonym: "Decreased length of columella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of columella" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1857479 xref: UMLS:C4280585 is_a: HP:0009929 ! Abnormal columella morphology [Term] id: HP:0002002 name: Deep philtrum alt_id: HP:0000305 alt_id: HP:0004654 def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [PMID:19152422] comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. subset: hposlim_core synonym: "Depressed philtrum" RELATED [] synonym: "Increased depth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Philtrum, deep" EXACT [] synonym: "Prominent philtrum" EXACT [] synonym: "Pronounced philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839797 xref: UMLS:C4020861 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0002003 name: Large forehead synonym: "Hyperplasia of forehead" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of forehead" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of frontal region of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large forehead" EXACT layperson [] xref: UMLS:C1839783 xref: UMLS:C4280583 xref: UMLS:C4280584 is_a: HP:0000290 ! Abnormal forehead morphology [Term] id: HP:0002006 name: Tessier cleft def: "A congenital malformation with a cleft (gap or opening) in the face." [https://orcid.org/0000-0002-0736-9199] comment: The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations. subset: hposlim_core synonym: "Cleft of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial cleft" EXACT layperson [] synonym: "Facial clefts" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Tessier facial cleft" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:92821006 xref: UMLS:C0685787 is_a: HP:0000271 ! Abnormality of the face is_a: HP:5201015 ! Craniofacial cleft [Term] id: HP:0002007 name: Frontal bossing alt_id: HP:0000254 alt_id: HP:0000333 alt_id: HP:0001358 alt_id: HP:0001359 def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [PMID:19125436] comment: This is not the same as prominent forehead. subset: hposlim_core synonym: "Frontal protuberance" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Skull bossing" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:90145001 xref: UMLS:C0221354 is_a: HP:0000290 ! Abnormal forehead morphology is_a: HP:0011218 ! Abnormal shape of the frontal region [Term] id: HP:0002009 name: Potter facies def: "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose." [https://orcid.org/0000-0002-0736-9199] comment: Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. xref: SNOMEDCT_US:24814002 xref: UMLS:C0266619 is_a: HP:0011334 ! Facial shape deformation [Term] id: HP:0002010 name: Narrow maxilla synonym: "Decreased breadth of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased transverse dimension of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse hypoplasia of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse maxillary deficiency" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse maxillary insufficiency" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1851835 is_a: HP:0000326 ! Abnormal maxilla morphology [Term] id: HP:0002011 name: Morphological central nervous system abnormality alt_id: HP:0002405 alt_id: HP:0002413 alt_id: HP:0002481 alt_id: HP:0007319 def: "A structural abnormality of the central nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the central nervous system" EXACT [] synonym: "Central nervous system disease" RELATED [] synonym: "Morphological abnormality of the central nervous system" EXACT [] synonym: "Morphological abnormality of the CNS" EXACT abbreviation [] xref: SNOMEDCT_US:23853001 xref: UMLS:C0007682 xref: UMLS:C4021765 is_a: HP:0012639 ! Abnormal nervous system morphology [Term] id: HP:0002012 name: Abnormality of the abdominal organs def: "An abnormality of the viscera of the abdomen." [https://orcid.org/0000-0002-0736-9199] comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. synonym: "Abnormality of the abdominal organs" EXACT layperson [] synonym: "Gastrointestinal tract defects" EXACT [] xref: UMLS:C4021764 is_a: HP:0025031 ! Abnormality of the digestive system [Term] id: HP:0002013 name: Vomiting def: "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Emesis" EXACT [] synonym: "Throwing up" EXACT layperson [] synonym: "Vomiting" EXACT layperson [] xref: MEDDRA:10047700 "Vomiting" xref: SNOMEDCT_US:249497008 xref: SNOMEDCT_US:300359004 xref: SNOMEDCT_US:422400008 xref: UMLS:C0042963 is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002014 name: Diarrhea def: "Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day." [https://orcid.org/0000-0002-0736-9199] synonym: "Diarrhea" EXACT layperson [] synonym: "Diarrhoea" EXACT uk_spelling [] synonym: "Watery stool" EXACT layperson [] xref: SNOMEDCT_US:267060006 xref: SNOMEDCT_US:62315008 xref: UMLS:C0011991 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002015 name: Dysphagia alt_id: HP:0002569 def: "Difficulty in swallowing." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Deglutition disorder" RELATED [] synonym: "Difficulty swallowing" EXACT [] synonym: "Poor swallowing" EXACT layperson [] synonym: "Swallowing difficulties" EXACT layperson [] synonym: "Swallowing difficulty" EXACT layperson [] xref: MEDDRA:10013950 "Dysphagia" xref: SNOMEDCT_US:288939007 xref: SNOMEDCT_US:40739000 xref: UMLS:C0011168 is_a: HP:0012638 ! Abnormal nervous system physiology is_a: HP:0025270 ! Abnormal esophagus physiology [Term] id: HP:0002017 name: Nausea and vomiting def: "Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea." [PMID:26770271] synonym: "Nausea and vomiting" EXACT layperson [] xref: SNOMEDCT_US:16932000 xref: UMLS:C0027498 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002018 name: Nausea def: "A sensation of unease in the stomach together with an urge to vomit." [https://orcid.org/0000-0002-0736-9199, PMID:26770271] subset: hposlim_core synonym: "Nausea" EXACT layperson [] xref: MEDDRA:10028813 "Nausea" xref: SNOMEDCT_US:422587007 xref: UMLS:C0027497 is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002019 name: Constipation alt_id: HP:0002241 alt_id: HP:0003786 def: "Infrequent or difficult evacuation of feces." [https://orcid.org/0000-0002-0736-9199] synonym: "Constipation" EXACT layperson [] synonym: "Costiveness" EXACT [] synonym: "Dyschezia" EXACT [] xref: SNOMEDCT_US:14760008 xref: SNOMEDCT_US:225595004 xref: UMLS:C0009806 xref: UMLS:C0237326 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002020 name: Gastroesophageal reflux alt_id: HP:0004793 def: "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acid reflux" EXACT layperson [] synonym: "Acid reflux disease" EXACT layperson [] synonym: "Gastro-esophageal reflux" EXACT [] synonym: "Gastro-oesophageal reflux" EXACT uk_spelling [] synonym: "Gastroesophageal reflux disease" EXACT [] synonym: "GERD" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "GORD" EXACT abbreviation [] synonym: "Heartburn" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:16331000 xref: SNOMEDCT_US:235595009 xref: SNOMEDCT_US:698065002 xref: UMLS:C0017168 xref: UMLS:C0018834 is_a: HP:0025270 ! Abnormal esophagus physiology [Term] id: HP:0002021 name: Pyloric stenosis def: "Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss." [https://orcid.org/0000-0002-0736-9199, PMID:32310391] comment: Pyloric stenosis occurs in the first few months of life. subset: hposlim_core synonym: "Infantile hypertrophic pyloric stenosis" EXACT [] synonym: "Pylorus stenosis" EXACT [] xref: Fyler:4444 xref: MEDDRA:10037621 "Pyloric stenosis" xref: SNOMEDCT_US:367403001 xref: UMLS:C0034194 is_a: HP:0004400 ! Abnormality of the pylorus [Term] id: HP:0002023 name: Anal atresia alt_id: HP:0001550 def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent anus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Imperforate anus" RELATED [] xref: Fyler:4402 xref: Fyler:4443 xref: MEDDRA:10002120 "Anal atresia" xref: SNOMEDCT_US:204712000 xref: SNOMEDCT_US:204731006 xref: UMLS:C0003466 is_a: HP:0034915 ! Abnormal anus morphology [Term] id: HP:0002024 name: Malabsorption alt_id: HP:0008270 def: "Impaired ability to absorb one or more nutrients from the intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Intestinal malabsorption" EXACT layperson [] synonym: "Malabsorption" EXACT layperson [] xref: UMLS:C3714745 is_a: HP:0025032 ! Abnormality of digestive system physiology [Term] id: HP:0002025 name: Anal stenosis def: "Abnormal narrowing of the anal opening." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Narrowing of anal opening" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10002176 "Anal stenosis" xref: SNOMEDCT_US:250037002 xref: SNOMEDCT_US:69914001 xref: UMLS:C0262374 is_a: HP:0034915 ! Abnormal anus morphology [Term] id: HP:0002027 name: Abdominal pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [https://orcid.org/0000-0002-0736-9199] comment: Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. subset: hposlim_core synonym: "Abdominal discomfort" RELATED layperson [] synonym: "Abdominal pain" EXACT layperson [] synonym: "Gastro pain" BROAD layperson [] synonym: "Gastrointestinal pain" BROAD layperson [] synonym: "Pain in stomach" EXACT layperson [] synonym: "Stomach pain" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Upset stomach" RELATED layperson [https://orcid.org/0000-0001-6439-2224] xref: MEDDRA:10000081 "Abdominal pain" xref: SNOMEDCT_US:21522001 xref: UMLS:C0000737 is_a: HP:0011458 ! Abdominal symptom is_a: HP:0012531 ! Pain [Term] id: HP:0002028 name: Chronic diarrhea def: "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic diarrhea" EXACT layperson [] synonym: "Chronic diarrhoea" EXACT uk_spelling [] synonym: "Diarrhea, recurrent" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent diarrhea" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent diarrhoea" RELATED uk_spelling [] xref: SNOMEDCT_US:236071009 xref: UMLS:C0401151 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002031 name: Abnormal esophagus morphology def: "A structural abnormality of the esophagus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal oesophagus morphology" EXACT uk_spelling [] synonym: "Abnormality of esophagus structure" EXACT layperson [] synonym: "Abnormality of oesophagus structure" EXACT uk_spelling [] synonym: "Anomaly of the esophagus" EXACT [] synonym: "Anomaly of the oesophagus" EXACT uk_spelling [] xref: SNOMEDCT_US:69771008 xref: UMLS:C0266126 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology [Term] id: HP:0002032 name: Esophageal atresia def: "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [https://orcid.org/0000-0002-0736-9199] synonym: "Birth defect in which part of esophagus did not develop" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Birth defect in which part of oesophagus did not develop" EXACT uk_spelling [] xref: Fyler:4412 xref: SNOMEDCT_US:26179002 xref: UMLS:C0014850 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0002589 ! Gastrointestinal atresia [Term] id: HP:0002033 name: Poor suck def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [https://orcid.org/0000-0002-0736-9199] synonym: "Poor suck" EXACT layperson [] synonym: "Poor sucking" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Sucking weakness" EXACT [] xref: UMLS:C1837142 is_a: HP:0008872 ! Feeding difficulties in infancy [Term] id: HP:0002034 name: Abnormal rectum morphology def: "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the rectum" EXACT layperson [] synonym: "Anomaly of the rectum" EXACT layperson [] xref: SNOMEDCT_US:86993003 xref: UMLS:C0266210 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0012732 ! Anorectal anomaly [Term] id: HP:0002035 name: Rectal prolapse def: "Protrusion of the rectal mucous membrane through the anus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Rectal prolapsed" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Rectum protrudes through anus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10038077 "Rectal prolapse" xref: SNOMEDCT_US:57773001 xref: UMLS:C0034888 is_a: HP:0002034 ! Abnormal rectum morphology [Term] id: HP:0002036 name: Hiatus hernia def: "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [https://orcid.org/0000-0002-0736-9199] comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). subset: hposlim_core synonym: "Hiatal hernia" EXACT [] synonym: "Stomach hernia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10020028 "Hiatus hernia" xref: SNOMEDCT_US:84089009 xref: UMLS:C3489393 is_a: HP:0002577 ! Abnormal stomach morphology is_a: HP:0100790 ! Hernia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:28:00Z [Term] id: HP:0002037 name: Inflammation of the large intestine def: "Inflammation, or an inflammatory state in the large intestine." [] synonym: "Inflammation of the large intestine" EXACT layperson [] synonym: "Inflammatory bowel disease" RELATED layperson [] xref: SNOMEDCT_US:24526004 xref: SNOMEDCT_US:302168000 xref: UMLS:C0021390 xref: UMLS:C0578878 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0004386 ! Gastrointestinal inflammation [Term] id: HP:0002038 name: Protein avoidance xref: UMLS:C1839531 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002039 name: Anorexia def: "Anorexia, or the loss of appetite for food, is a medical condition." [] comment: Please note that this term does not refer to the condition of anorexia nervosa, which is a disorder characterized by an obsessive desire to lose weight by refusing to eat. synonym: "Anorexia" EXACT layperson [] synonym: "Deliberately not eating" EXACT [] synonym: "Obsessive dieting" EXACT [] synonym: "Refusing to eat" EXACT [] xref: SNOMEDCT_US:79890006 xref: UMLS:C0003123 is_a: HP:0011458 ! Abdominal symptom is_a: HP:0040202 ! Abnormal consumption behavior property_value: terms:contributor https://orcid.org/0000-0001-6624-2975 property_value: terms:contributor https://orcid.org/0000-0002-2984-1124 property_value: terms:contributor https://orcid.org/0000-0002-4691-7362 property_value: terms:contributor https://orcid.org/0000-0002-6581-7754 property_value: terms:contributor https://orcid.org/0000-0002-7674-1767 property_value: terms:contributor https://orcid.org/0000-0003-2598-6622 property_value: terms:contributor https://orcid.org/0000-0003-4014-4490 [Term] id: HP:0002040 name: Esophageal varix def: "Extreme dilation of the submucusoal veins in the lower portion of the esophagus." [https://orcid.org/0000-0002-0736-9199] comment: Esophageal varices are most often a consequence of portal hypertension. subset: hposlim_core synonym: "Enlarged vein in esophagus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Enlarged vein in oesophagus" EXACT uk_spelling [] synonym: "Esophageal varices" RELATED [] xref: MEDDRA:10056091 "Varices oesophageal" xref: SNOMEDCT_US:28670008 xref: UMLS:C0014867 is_a: HP:0002031 ! Abnormal esophagus morphology [Term] id: HP:0002041 name: Intractable diarrhea synonym: "Intractable diarrhoea" EXACT uk_spelling [] xref: UMLS:C0743178 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002043 name: Esophageal stricture def: "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [https://orcid.org/0000-0002-0736-9199] comment: Gastroesophageal reflux is a common cause of esophageal stricture. synonym: "Narrowing of esophagus due to inflammation and scar tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Narrowing of oesophagus due to inflammation and scar tissue" EXACT uk_spelling [] xref: SNOMEDCT_US:63305008 xref: UMLS:C0014866 is_a: HP:0010450 ! Esophageal stenosis [Term] id: HP:0002044 name: Zollinger-Ellison syndrome def: "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration." [https://orcid.org/0000-0002-0736-9199] comment: Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. subset: hposlim_core xref: MEDDRA:10048281 "Zollinger-Ellison syndrome" xref: SNOMEDCT_US:53132006 xref: UMLS:C0043515 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0002045 name: Hypothermia def: "Reduced body temperature due to failed thermoregulation." [https://orcid.org/0009-0006-4530-3154] comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). synonym: "Abnormally low body temperature" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypothermia" EXACT layperson [] xref: SNOMEDCT_US:386689009 xref: UMLS:C0020672 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002046 name: Heat intolerance def: "The inability to maintain a comfortable body temperature in warm or hot weather." [https://orcid.org/0000-0002-0736-9199] comment: Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. subset: hposlim_core synonym: "Heat intolerance" EXACT layperson [] synonym: "Intolerance to heat and fevers" EXACT layperson [] xref: SNOMEDCT_US:69215007 xref: UMLS:C0231274 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002047 name: Malignant hyperthermia alt_id: HP:0004896 def: "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:213026003 xref: SNOMEDCT_US:405501007 xref: UMLS:C0024591 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002048 name: Renal cortical atrophy def: "Atrophy of the cortex of the kidney." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025730 is_a: HP:0011035 ! Abnormal renal cortex morphology is_a: HP:0012585 ! Renal atrophy [Term] id: HP:0002049 name: Proximal renal tubular acidosis def: "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Proximal tubular acidosis" EXACT [] synonym: "Renal tubular acidosis, proximal" EXACT [] synonym: "Renal tubular acidosis, type II" EXACT [] xref: SNOMEDCT_US:24790002 xref: UMLS:C0268435 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0002050 name: Macroorchidism, postpubertal xref: UMLS:C1839782 is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0002054 name: Heavy supraorbital ridges synonym: "Heavy brow of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Heavy supraorbital ridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845107 is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0002055 name: Curved linear dimple below the lower lip xref: UMLS:C1844572 is_a: HP:0000178 ! Abnormal lower lip morphology [Term] id: HP:0002056 name: Abnormality of the glabella def: "An abnormality of the glabella." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the area between the eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Glabellar abnormality" EXACT [] synonym: "Malformation of the area between the eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021763 is_a: HP:0000290 ! Abnormal forehead morphology [Term] id: HP:0002057 name: Prominent glabella def: "Forward protrusion of the glabella." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. subset: hposlim_core synonym: "Convex glabella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of glabella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860247 is_a: HP:0002056 ! Abnormality of the glabella [Term] id: HP:0002058 name: Myopathic facies alt_id: HP:0004647 def: "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [https://orcid.org/0000-0002-0736-9199] synonym: "Myopathic face" EXACT [] synonym: "Myopathic facial appearance" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:26432009 xref: UMLS:C0332615 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0002059 name: Cerebral atrophy alt_id: HP:0002422 alt_id: HP:0006890 def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [https://orcid.org/0009-0006-4530-3154] comment: Atrophy may be progressive over time. synonym: "Degeneration of cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Supratentorial atrophy" RELATED [] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 xref: UMLS:C0235946 xref: UMLS:C4020860 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0002060 name: Abnormal cerebral morphology def: "Any structural abnormality of the telencephalon, which is also known as the cerebrum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cerebrum" EXACT [] synonym: "Abnormality of the telencephalon" EXACT [] synonym: "Cerebral lesion" EXACT [] xref: UMLS:C4021762 is_a: HP:0100547 ! Abnormal forebrain morphology [Term] id: HP:0002061 name: Lower limb spasticity def: "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199] synonym: "Lower extremities spasticity" EXACT [] synonym: "Lower extremity spasticity" EXACT [] synonym: "Spastic lower extremities" EXACT [] synonym: "Spastic lower extremity" EXACT [] synonym: "Spastic lower limb" EXACT [] synonym: "Spastic lower limbs" EXACT [] synonym: "Spasticity in lower extremities" EXACT [] synonym: "Spasticity in lower extremity" EXACT [] synonym: "Spasticity in lower limb" EXACT [] synonym: "Spasticity in lower limbs" EXACT [] synonym: "Spasticity of lower extremities" EXACT [] synonym: "Spasticity of lower extremity" EXACT [] synonym: "Spasticity of lower limb" EXACT [] synonym: "Spasticity of lower limbs" EXACT [] xref: SNOMEDCT_US:394679006 xref: UMLS:C1271100 is_a: HP:0034353 ! Appendicular spasticity [Term] id: HP:0002062 name: Abnormal pyramidal tract morphology alt_id: HP:0012445 def: "Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [https://orcid.org/0000-0002-0736-9199] comment: The pyramidal tracts comprise both the corticospinal and corticobulbar tracts. synonym: "Abnormality of the pyramidal tracts" EXACT [] synonym: "Morphological abnormality of the pyramidal tract" EXACT [] synonym: "Pyramidal tract disease" RELATED [] xref: UMLS:C4020859 xref: UMLS:C4021761 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002063 name: Rigidity def: "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [https://orcid.org/0000-0002-0736-9199] comment: Rigidity is often a manifestation of basal ganglia diseases. synonym: "Muscle rigidity" EXACT layperson [] synonym: "Rigidity" EXACT layperson [] xref: SNOMEDCT_US:16046003 xref: UMLS:C0026837 is_a: HP:0001276 ! Hypertonia [Term] id: HP:0002064 name: Spastic gait def: "Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg." [PMID:25649546] synonym: "Spastic walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:9447003 xref: UMLS:C0231687 is_a: HP:0001257 ! Spasticity is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002066 name: Gait ataxia alt_id: HP:0002379 def: "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199] synonym: "Ataxia of gait" EXACT [] synonym: "Ataxic gait" EXACT [] synonym: "Inability to coordinate movements when walking" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:25136009 xref: UMLS:C0751837 is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002067 name: Bradykinesia def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [https://orcid.org/0000-0002-0736-9199] synonym: "Slow movements" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Slowness of movements" EXACT layperson [] xref: SNOMEDCT_US:399317006 xref: UMLS:C0233565 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002068 name: Neuromuscular dysphagia xref: UMLS:C4025729 is_a: HP:0002015 ! Dysphagia [Term] id: HP:0002069 name: Bilateral tonic-clonic seizure alt_id: HP:0001306 alt_id: HP:0002407 alt_id: HP:0007252 def: "A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [https://orcid.org/0000-0002-0736-9199, PMID:28276060] comment: A tonic-clonic seizure may be generalized from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. synonym: "Bilateral convulsive seizures" EXACT [] synonym: "Generalised convulsion" EXACT uk_spelling [] synonym: "Generalised tonic-clonic seizure (without specification of onset)" EXACT [] synonym: "Generalized convulsion" EXACT [] synonym: "Generalized tonic-clonic seizure (without specification of onset)" EXACT [] synonym: "Grand mal" EXACT [] synonym: "Grand mal seizures" EXACT layperson [] synonym: "Seizures, tonic-clonic" EXACT [] synonym: "Tonic-clonic convulsion" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Tonic-clonic convulsions" EXACT plural_form [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:54200006 xref: UMLS:C0494475 is_a: HP:0001250 ! Seizure [Term] id: HP:0002070 name: Limb ataxia def: "A kind of ataxia that affects movements of the extremities." [https://orcid.org/0000-0002-0736-9199] comment: Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. synonym: "Appendicular ataxia" EXACT [] xref: UMLS:C0750937 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002071 name: Abnormality of extrapyramidal motor function alt_id: HP:0006810 alt_id: HP:0007113 def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [https://orcid.org/0000-0002-0736-9199] comment: The basal ganglia, paired subcortical masses of gray matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. synonym: "Extrapyramidal dysfunction" EXACT [] synonym: "Extrapyramidal signs" EXACT [] synonym: "Extrapyramidal symptoms" EXACT [] synonym: "Extrapyramidal syndrome" EXACT [] synonym: "Extrapyramidal tract signs" EXACT [] xref: SNOMEDCT_US:43378000 xref: SNOMEDCT_US:76349003 xref: UMLS:C0015371 xref: UMLS:C0234133 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002072 name: Chorea alt_id: HP:0002397 def: "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities." [https://orcid.org/0000-0002-0736-9199, PMID:20589866] synonym: "Choreatic disease" RELATED [] synonym: "Choreic movements" EXACT [] synonym: "Choreiform movements" EXACT [] xref: SNOMEDCT_US:271700006 xref: UMLS:C0008489 xref: UMLS:C4020858 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002073 name: Progressive cerebellar ataxia alt_id: HP:0001329 alt_id: HP:0002496 alt_id: HP:0007331 synonym: "Cerebellar ataxia, progressive" EXACT [] synonym: "Progressive ataxia" EXACT [] xref: SNOMEDCT_US:230233000 xref: UMLS:C0393525 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002074 name: Increased neuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [https://orcid.org/0000-0002-0736-9199, PMID:11406682] synonym: "Neuronal lipopigments" RELATED [] xref: UMLS:C4020857 xref: UMLS:C4025728 is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0002075 name: Dysdiadochokinesis alt_id: HP:0002426 def: "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO_CONTRIBUTOR:UKB_tklockgether, HPO_CONTRIBUTOR:zaferyueksel, https://orcid.org/0000-0002-0736-9199] comment: Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. synonym: "Difficulty performing quick and alternating movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Dysdiadochokinesia" EXACT [] xref: SNOMEDCT_US:23133003 xref: UMLS:C0234979 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002076 name: Migraine alt_id: HP:0007194 def: "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [https://orcid.org/0000-0002-0736-9199, PMID:15304572] synonym: "Intermittent migraine headaches" EXACT layperson [] synonym: "Migraine" EXACT layperson [] synonym: "Migraine headache" EXACT layperson [] synonym: "Migraine headaches" EXACT layperson [] xref: SNOMEDCT_US:37796009 xref: UMLS:C0149931 xref: UMLS:C0744641 is_a: HP:0002315 ! Headache [Term] id: HP:0002077 name: Migraine with aura def: "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." [https://orcid.org/0000-0002-0736-9199, PMID:15304572] xref: SNOMEDCT_US:4473006 xref: UMLS:C0154723 is_a: HP:0002076 ! Migraine [Term] id: HP:0002078 name: Truncal ataxia alt_id: HP:0007014 def: "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199] comment: Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. synonym: "Instability or lack of coordination of central trunk muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Trunk ataxia" EXACT [] xref: SNOMEDCT_US:250067008 xref: UMLS:C0427190 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002079 name: Hypoplasia of the corpus callosum alt_id: HP:0002319 alt_id: HP:0007026 def: "Underdevelopment of the corpus callosum." [https://orcid.org/0000-0002-0736-9199, PMID:21263138] comment: The corpus callosum appears thin in midline views of the brain in neuroradiological images. synonym: "Corpus callosum hypoplasia" EXACT [] synonym: "Hypoplasia of corpus callosum" EXACT [] synonym: "Hypoplastic corpus callosum" EXACT [] synonym: "Underdevelopment of part of brain called corpus callosum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:204043002 xref: UMLS:C0344482 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0002080 name: Intention tremor def: "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [https://orcid.org/0000-0002-0736-9199, PMID:16344298] synonym: "Cerebellar tremor" RELATED [] synonym: "Terminal tremor" RELATED [] xref: SNOMEDCT_US:30721006 xref: UMLS:C0234376 xref: UMLS:C4020856 is_a: HP:0030186 ! Kinetic tremor [Term] id: HP:0002083 name: Migraine without aura def: "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia." [https://orcid.org/0000-0002-0736-9199, PMID:15304572] comment: The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (PMID:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. xref: SNOMEDCT_US:56097005 xref: UMLS:C0338480 is_a: HP:0002076 ! Migraine [Term] id: HP:0002084 name: Encephalocele alt_id: HP:0002736 alt_id: HP:0100664 def: "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [https://orcid.org/0000-0002-0736-9199] comment: A congenital gap in the skull that usually results in a protrusion of brain material. synonym: "Bifid skull" EXACT [] synonym: "Cranium bifidum" EXACT [] xref: SNOMEDCT_US:253101008 xref: SNOMEDCT_US:48777005 xref: SNOMEDCT_US:55999004 xref: UMLS:C0014065 is_a: HP:0011815 ! Cephalocele is_a: HP:0034237 ! Open neural tube defect [Term] id: HP:0002085 name: Occipital encephalocele alt_id: HP:0007051 alt_id: HP:0007357 def: "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481] synonym: "Brain tissue sticks out through back of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Occipital meningoencephalocele" EXACT [] synonym: "Posterior encephalocele" EXACT [] xref: SNOMEDCT_US:42376006 xref: UMLS:C0014067 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0002086 name: Abnormality of the respiratory system def: "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory abnormality" EXACT [] xref: UMLS:C4018871 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002087 name: Abnormality of the upper respiratory tract def: "An abnormality of the upper respiratory tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the upper respiratory tract" EXACT layperson [] synonym: "Upper respiratory tract issues" EXACT layperson [] xref: UMLS:C4025727 is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0002088 name: Abnormal lung morphology def: "Any structural anomaly of the lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of lung structure" EXACT layperson [] synonym: "Abnormality of the lungs" EXACT layperson [] synonym: "Abnormally shaped lung" EXACT layperson [] synonym: "Lung disease" RELATED layperson [] synonym: "Unusual lung shape" EXACT layperson [] xref: SNOMEDCT_US:19829001 xref: UMLS:C0024115 xref: UMLS:C4021760 is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0002089 name: Pulmonary hypoplasia synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] synonym: "Poorly developed lungs" EXACT layperson [] synonym: "Small lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:80825009 xref: UMLS:C0265783 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0002090 name: Pneumonia def: "Inflammation of any part of the lung parenchyma." [https://orcid.org/0000-0002-0736-9199] synonym: "Pneumonia" EXACT layperson [] xref: SNOMEDCT_US:233604007 xref: UMLS:C0032285 is_a: HP:0011947 ! Respiratory tract infection is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0002091 name: Restrictive ventilatory defect alt_id: HP:0002111 def: "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus." [https://orcid.org/0000-0003-4546-6667, PMID:28194273] comment: The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. synonym: "Restrictive deficit on pulmonary function testing" EXACT [] synonym: "Restrictive deficit on pulmonary function tests" EXACT [] synonym: "Restrictive lung disease" RELATED [https://orcid.org/0000-0001-5208-3432] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory insufficiency" EXACT [] synonym: "Restrictive respiratory syndrome" EXACT [] synonym: "Spirometric restriction" EXACT [] synonym: "Stiff lung or chest wall causing decreased lung volume" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:36485005 xref: UMLS:C0085581 xref: UMLS:C3277226 is_a: HP:0030878 ! Abnormality on pulmonary function testing [Term] id: HP:0002092 name: Pulmonary arterial hypertension alt_id: HP:0006546 def: "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position." [https://orcid.org/0000-0002-0736-9199] comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. synonym: "Increased blood pressure in blood vessels of lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Primary pulmonary hypertension" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Pulmonary artery hypertension" EXACT [] xref: SNOMEDCT_US:11399002 xref: SNOMEDCT_US:697898008 xref: SNOMEDCT_US:70995007 xref: UMLS:C0020542 xref: UMLS:C2973725 xref: UMLS:C3203102 is_a: HP:0033578 ! Pre-capillary pulmonary hypertension [Term] id: HP:0002093 name: Respiratory insufficiency alt_id: HP:0004893 alt_id: HP:0005937 alt_id: HP:0006542 synonym: "Respiratory function loss" RELATED layperson [] synonym: "Respiratory impairment" EXACT layperson [] xref: SNOMEDCT_US:409623005 xref: UMLS:C0035229 xref: UMLS:C4020855 is_a: HP:0002795 ! Abnormal respiratory system physiology [Term] id: HP:0002094 name: Dyspnea def: "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale." [https://orcid.org/0000-0002-0736-9199, PMID:16914301] synonym: "Abnormal breathing" EXACT [] synonym: "Breathing difficulty" EXACT layperson [] synonym: "Difficult to breathe" EXACT layperson [] synonym: "Difficulty breathing" EXACT layperson [] synonym: "Dyspnoea" EXACT uk_spelling [] synonym: "Panting" RELATED layperson [] synonym: "Shortness of breath" EXACT layperson [] synonym: "Trouble breathing" EXACT layperson [] xref: SNOMEDCT_US:230145002 xref: SNOMEDCT_US:267036007 xref: UMLS:C0013404 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002097 name: Emphysema alt_id: HP:0006534 synonym: "Pulmonary emphysema" EXACT [] xref: SNOMEDCT_US:87433001 xref: UMLS:C0034067 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002098 name: Respiratory distress alt_id: HP:0002880 def: "Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." [] synonym: "Breathing difficulties" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Labored breathing" EXACT layperson [] synonym: "Laboured breathing" EXACT uk_spelling [] synonym: "Respiratory difficulties" EXACT [] xref: SNOMEDCT_US:230145002 xref: SNOMEDCT_US:267036007 xref: SNOMEDCT_US:271825005 xref: UMLS:C0013404 xref: UMLS:C0476273 is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002099 name: Asthma alt_id: HP:0002112 def: "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [https://orcid.org/0000-0002-0736-9199] synonym: "Asthma" EXACT layperson [] synonym: "Bronchial asthma" EXACT [] synonym: "Reactive airway disease" RELATED [] xref: SNOMEDCT_US:195967001 xref: SNOMEDCT_US:991000119106 xref: UMLS:C0004096 xref: UMLS:C3714497 is_a: HP:0002795 ! Abnormal respiratory system physiology is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002100 name: Recurrent aspiration pneumonia alt_id: HP:0002106 def: "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent pneumonia due to aspiration," EXACT [] xref: SNOMEDCT_US:430969000 xref: UMLS:C0747651 is_a: HP:0011951 ! Aspiration pneumonia [Term] id: HP:0002101 name: Abnormal lung lobation alt_id: HP:0006525 alt_id: HP:0009753 def: "A developmental defect in the formation of pulmonary lobes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pulmonary lobation" EXACT [] synonym: "Defective lung lobation" EXACT [] synonym: "Lung segmentation defects" EXACT [] xref: SNOMEDCT_US:91842005 xref: UMLS:C0685695 is_a: HP:4000059 ! Abnormal lung development [Term] id: HP:0002102 name: Pleuritis def: "Inflammation of the pleura." [https://orcid.org/0009-0006-4530-3154] synonym: "Inflammation of tissues lining lungs and chest" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pleurisy" EXACT [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:196075003 xref: UMLS:C0032231 is_a: HP:0002103 ! Abnormal pleura morphology [Term] id: HP:0002103 name: Abnormal pleura morphology def: "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pleura" EXACT [] xref: UMLS:C4025726 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002104 name: Apnea alt_id: HP:0005936 alt_id: HP:0005958 def: "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of spontaneous respiration" EXACT [] synonym: "Apneic episodes" EXACT [] synonym: "Apnoea" EXACT [] xref: SNOMEDCT_US:1023001 xref: SNOMEDCT_US:248583008 xref: UMLS:C0003578 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002105 name: Hemoptysis def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [https://orcid.org/0000-0002-0736-9199] synonym: "Coughing up blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Coughing up blood or blood-stained mucus" RELATED layperson [] synonym: "Haemoptysis" EXACT uk_spelling [] xref: SNOMEDCT_US:66857006 xref: SNOMEDCT_US:6686005 xref: UMLS:C0019079 is_a: HP:0032016 ! Abnormal sputum [Term] id: HP:0002107 name: Pneumothorax def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Collapsed lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:36118008 xref: UMLS:C0032326 is_a: HP:0002103 ! Abnormal pleura morphology [Term] id: HP:0002108 name: Spontaneous pneumothorax def: "Pneumothorax occurring without traumatic injury to the chest or lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Spontaneous collapsed lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:80423007 xref: UMLS:C0149781 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0002109 name: obsolete Abnormality of the bronchi is_obsolete: true replaced_by: HP:0025426 [Term] id: HP:0002110 name: Bronchiectasis def: "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [https://orcid.org/0000-0002-0736-9199] synonym: "Permanent enlargement of the airways of the lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:12295008 xref: UMLS:C0006267 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0002111 name: obsolete Restrictive deficit on pulmonary function testing is_obsolete: true replaced_by: HP:0002091 [Term] id: HP:0002113 name: Pulmonary infiltrates synonym: "Lung infiltrates" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pulmonic infiltration" EXACT [] xref: UMLS:C0235896 is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding [Term] id: HP:0002118 name: Abnormal cerebral ventricle morphology def: "Any structural abnormality of the cerebral ventricles." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cerebral ventricles" EXACT [] xref: UMLS:C4025724 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002119 name: Ventriculomegaly alt_id: HP:0002447 alt_id: HP:0005691 alt_id: HP:0007071 def: "An increase in size of the ventricular system of the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebral ventricular dilatation" EXACT [] synonym: "Dilated cerebral ventricle" EXACT [] synonym: "Dilated cerebral ventricles" EXACT [] synonym: "Dilated ventricles" EXACT [] synonym: "Enlarged cerebral ventricles" EXACT [] synonym: "Enlarged ventricles" EXACT [] synonym: "Enlarged ventricular system" EXACT [] synonym: "Large cerebral ventricles and cisternae" EXACT [] synonym: "Ventricular dilatation" EXACT [] xref: UMLS:C3278923 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology [Term] id: HP:0002120 name: Cerebral cortical atrophy alt_id: HP:0006823 alt_id: HP:0006835 def: "Atrophy of the cortex of the cerebrum." [https://orcid.org/0000-0002-0736-9199] comment: Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. synonym: "Cerebral cortex atrophy" EXACT [] synonym: "Cortical atrophy" EXACT [] synonym: "Decrease in size of the outer layer of the brain due to loss of brain cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:278849000 xref: UMLS:C0235946 is_a: HP:0002059 ! Cerebral atrophy is_a: HP:0002538 ! Abnormal cerebral cortex morphology [Term] id: HP:0002121 name: Generalized non-motor (absence) seizure alt_id: HP:0007143 alt_id: HP:0011148 def: "A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064] comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. synonym: "Absence seizure" EXACT [] synonym: "Absence seizures" EXACT plural_form [] synonym: "Brief seizures with staring spells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Generalised non-motor (absence) seizure" EXACT uk_spelling [] synonym: "Generalised non-motor seizure" EXACT uk_spelling [] synonym: "Petit mal" EXACT [] synonym: "Petit mal seizure" EXACT [] synonym: "Petit mal seizures" EXACT plural_form [] xref: SNOMEDCT_US:230413002 xref: SNOMEDCT_US:432241000124101 xref: SNOMEDCT_US:50866000 xref: SNOMEDCT_US:79631006 xref: UMLS:C0014553 is_a: HP:0002197 ! Generalized-onset seizure is_a: HP:0011146 ! Dialeptic seizure is_a: HP:0033259 ! Non-motor seizure [Term] id: HP:0002123 name: Generalized myoclonic seizure alt_id: HP:0006869 alt_id: HP:0006902 alt_id: HP:0007075 alt_id: HP:0007202 alt_id: HP:0007284 alt_id: HP:0007294 def: "A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] synonym: "Generalised epileptic myoclonus" EXACT [] synonym: "Generalised myoclonic seizure" EXACT [] synonym: "Generalised myoclonic seizures" EXACT uk_spelling [] synonym: "Generalized epileptic myoclonus" EXACT [] synonym: "Generalized myoclonic seizures" EXACT plural_form [] synonym: "Myoclonic epilepsy, progressive" RELATED [] synonym: "Myoclonus seizures" EXACT [] xref: SNOMEDCT_US:192992007 xref: SNOMEDCT_US:267581004 xref: SNOMEDCT_US:37356005 xref: UMLS:C0014550 xref: UMLS:C0751778 xref: UMLS:C4021759 is_a: HP:0032677 ! Generalized-onset motor seizure is_a: HP:0032794 ! Myoclonic seizure [Term] id: HP:0002126 name: Polymicrogyria def: "Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:24888723] comment: Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. synonym: "More grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:4945003 xref: UMLS:C0266464 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0002127 name: Abnormal upper motor neuron morphology def: "Any structural anomaly that affects the upper motor neuron." [] comment: previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) synonym: "Abnormal shape of upper motor neuron" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025723 is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0002131 name: Episodic ataxia alt_id: HP:0006862 alt_id: HP:0007152 alt_id: HP:0007214 def: "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days." [https://orcid.org/0000-0002-0736-9199] synonym: "Intermittent cerebellar ataxia" EXACT [] synonym: "Paroxysmal ataxia" EXACT [] xref: SNOMEDCT_US:421455009 xref: UMLS:C1720189 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002132 name: Porencephalic cyst def: "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system." [https://orcid.org/0000-0002-0736-9199, PMID:9279052] comment: Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies. synonym: "Cavity within brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C4082173 is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0002133 name: Status epilepticus def: "Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1735-8178, PMID:26336950, PMID:28276060] comment: In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. synonym: "Prolonged seizure" EXACT [] synonym: "Repeated seizure without recovery" EXACT [] synonym: "Repeated seizures without recovery between them" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:230456007 xref: UMLS:C0038220 is_a: HP:0001250 ! Seizure [Term] id: HP:0002134 name: Abnormal basal ganglia morphology alt_id: HP:0006952 alt_id: HP:0007257 def: "Abnormality of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] comment: The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. synonym: "Abnormality of the basal ganglia" EXACT [] synonym: "Anomaly of the basal ganglia" EXACT [] synonym: "Basal ganglia disease" EXACT [] xref: SNOMEDCT_US:70835005 xref: UMLS:C0004782 is_a: HP:0010993 ! Abnormal cerebral subcortex morphology [Term] id: HP:0002135 name: Basal ganglia calcification alt_id: HP:0002485 def: "The presence of calcium deposition affecting one or more structures of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] synonym: "Basal ganglia calcifications" EXACT [] synonym: "Basal ganglion calcification" EXACT [] synonym: "Calcification of the basal ganglia" EXACT [] xref: UMLS:C1389280 is_a: HP:0002134 ! Abnormal basal ganglia morphology is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0002136 name: Broad-based gait def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad based gait" EXACT [] synonym: "Wide based gait" EXACT [] synonym: "Wide based walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide-based gait" EXACT [] xref: UMLS:C0856863 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002138 name: Subarachnoid hemorrhage def: "Hemorrhage occurring between the arachnoid mater and the pia mater." [https://orcid.org/0009-0006-4530-3154] comment: Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. synonym: "Subarachnoid hemorrhage" EXACT [] xref: SNOMEDCT_US:21454007 xref: UMLS:C0038525 is_a: HP:0002170 ! Intracranial hemorrhage is_a: HP:0012703 ! Abnormal subarachnoid space morphology [Term] id: HP:0002139 name: Arrhinencephaly def: "A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell." [] synonym: "Arhinencephaly" EXACT [] xref: UMLS:C0078982 is_a: HP:0100547 ! Abnormal forebrain morphology [Term] id: HP:0002140 name: Ischemic stroke def: "Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured." [PMID:32054610] synonym: "Ischaemic stroke" EXACT uk_spelling [] xref: SNOMEDCT_US:422504002 xref: UMLS:C0948008 is_a: HP:0001297 ! Stroke is_a: HP:0002637 ! Cerebral ischemia is_a: HP:0025722 ! Cerebral infarct [Term] id: HP:0002141 name: Gait imbalance alt_id: HP:0100683 synonym: "Abnormality of balance" EXACT layperson [] synonym: "Abnormality of equilibrium" EXACT layperson [] synonym: "Imbalanced walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836150 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002143 name: Abnormal spinal cord morphology def: "A structural abnormality of the spinal cord (myelon)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the spinal cord" EXACT layperson [] synonym: "Spinal cord disease" RELATED layperson [] synonym: "Spinal cord pathology" RELATED [] xref: SNOMEDCT_US:48522003 xref: UMLS:C0037928 xref: UMLS:C4025722 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002144 name: Tethered cord def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Occult spinal dysraphism" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:70534000 xref: UMLS:C0080218 is_a: HP:0031938 ! Abnormal conus terminalis morphology [Term] id: HP:0002145 name: Frontotemporal dementia def: "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders." [https://orcid.org/0000-0002-0736-9199, PMID:24966676] xref: SNOMEDCT_US:230270009 xref: UMLS:C0338451 is_a: HP:0000726 ! Dementia [Term] id: HP:0002148 name: Hypophosphatemia def: "An abnormally decreased phosphate concentration in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Hypophosphataemia" EXACT [] synonym: "Low blood phosphate level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:4996001 xref: UMLS:C0085682 is_a: HP:0100529 ! Abnormal blood phosphate concentration [Term] id: HP:0002149 name: Hyperuricemia def: "An abnormally high level of uric acid in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood uric acid level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperuricaemia" EXACT [] xref: SNOMEDCT_US:35885006 xref: UMLS:C0740394 is_a: HP:0002157 ! Azotemia is_a: HP:0010932 ! Abnormal circulating nucleobase concentration [Term] id: HP:0002150 name: Hypercalciuria synonym: "Elevated urine calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypercalcinuria" EXACT [] xref: SNOMEDCT_US:71938000 xref: UMLS:C0020438 is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0002151 name: Increased circulating lactate concentration alt_id: HP:0003638 def: "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35)." [https://orcid.org/0000-0002-0736-9199, PMID:24079682] synonym: "Higher than normal levels of lactate in blood" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Increased blood lactate" EXACT [] synonym: "Increased serum lactate" EXACT [] xref: UMLS:C1836440 is_a: HP:0001941 ! Acidosis [Term] id: HP:0002152 name: Hyperproteinemia def: "An increased concentration of proteins in the blood." [HPO_CONTRIBUTOR:gcarletti] xref: SNOMEDCT_US:37064009 xref: UMLS:C0267988 is_a: HP:0010876 ! Abnormal circulating protein concentration [Term] id: HP:0002153 name: Hyperkalemia def: "An abnormally increased potassium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased circulating potassium concentration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:14140009 xref: SNOMEDCT_US:166689004 xref: SNOMEDCT_US:238142003 xref: UMLS:C0020461 is_a: HP:0011042 ! Abnormal circulating potassium concentration [Term] id: HP:0002154 name: Hyperglycinemia def: "An elevated concentration of glycine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:16902722, PMID:4696900] comment: Normal blood glycine levels are around 200-250 micromole per liter. synonym: "Elevated blood glycine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperglycinaemia" EXACT [] xref: SNOMEDCT_US:64654004 xref: UMLS:C0268559 is_a: HP:0010895 ! Abnormal circulating glycine concentration [Term] id: HP:0002155 name: Hypertriglyceridemia alt_id: HP:0003082 alt_id: HP:0008174 alt_id: HP:0008332 def: "An abnormal increase in the level of triglycerides in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased circulating Tg levels" EXACT abbreviation [] synonym: "Increased plasma Tg levels" EXACT abbreviation [] synonym: "Increased plasma triglycerides" EXACT layperson [] synonym: "Increased serum triglycerides" EXACT layperson [] synonym: "Increased triglycerides" EXACT layperson [] xref: UMLS:C1522137 is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0002156 name: Homocystinuria def: "An increased concentration of homocystine in the urine." [HPO_CONTRIBUTOR:gcarletti] comment: Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. synonym: "High urine homocystine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:11282001 xref: UMLS:C0019880 is_a: HP:0033095 ! Increased sulfur amino acid level in urine [Term] id: HP:0002157 name: Azotemia def: "An increased concentration of nitrogen compounds in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. synonym: "Azotaemia" EXACT [] xref: SNOMEDCT_US:445009001 xref: UMLS:C0242528 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0002159 name: Heparan sulfate excretion in urine def: "An increased concentration of heparan sulfates in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Heparan sulphate excretion in urine" EXACT uk_spelling [] xref: UMLS:C1854827 is_a: HP:0008155 ! Mucopolysacchariduria [Term] id: HP:0002160 name: Hyperhomocystinemia def: "An increased concentration of homocystine in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. synonym: "Elevated blood homocystine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Homocystinemia" EXACT [] xref: UMLS:C3806347 is_a: HP:0010919 ! Abnormal circulating homocysteine concentration [Term] id: HP:0002161 name: Hyperlysinemia def: "An increased concentration of lysine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:4696900] comment: Normal blood lysine levels are around 180-200 micromole per liter. synonym: "Elevated blood lysine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:58558003 xref: UMLS:C0268553 is_a: HP:0010908 ! Abnormal circulating lysine concentration [Term] id: HP:0002162 name: Low posterior hairline def: "Hair on the neck extends more inferiorly than usual." [PMID:19125436] comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. subset: hposlim_core synonym: "Low hairline at back of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Low posterior hair line" EXACT [] xref: UMLS:C1855728 is_a: HP:0025668 ! Abnormal neck morphology is_a: HP:0030141 ! Abnormality of the posterior hairline [Term] id: HP:0002164 name: Nail dysplasia alt_id: HP:0001793 alt_id: HP:0001794 alt_id: HP:0001797 alt_id: HP:0008387 alt_id: HP:0008403 alt_id: HP:0008409 alt_id: HP:0008412 def: "The presence of developmental dysplasia of the nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Atypical nail growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Dysplastic nails" EXACT [] synonym: "Onychodysplasia" EXACT [] xref: UMLS:C1834405 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0002165 name: Nail pterygium def: "Inward advance of skin over the nail plate." [https://orcid.org/0000-0002-0736-9199] synonym: "Nail pterygium" EXACT [] synonym: "Pterygium of nails" EXACT [] xref: SNOMEDCT_US:110987009 xref: UMLS:C0406438 is_a: HP:0025756 ! Abnormal nail attachment [Term] id: HP:0002166 name: Impaired vibration sensation in the lower limbs def: "A decrease in the ability to perceive vibration in the legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased lower limb vibratory sense" EXACT layperson [] synonym: "Decreased vibratory sense in lower limbs" EXACT layperson [] synonym: "Decreased vibratory sense in the lower extremities" EXACT layperson [] synonym: "Decreased vibratory sense in the lower limbs" EXACT layperson [] synonym: "Diminished vibratory sensation in the legs" EXACT layperson [] synonym: "Distal sensory loss, especially vibratory sense" EXACT [] synonym: "Distal vibratory impairment of the lower limbs" EXACT [] synonym: "Impaired vibration sensation in the lower limbs" EXACT layperson [] xref: UMLS:C1849134 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0002167 name: Abnormal speech pattern def: "An abnormality in the sound (volume) or cadence (rate) of speech." [] comment: The term Abnormal speech pattern includes both psychiatric and neurological conditions that affect the rate, rhythm, and volume of expressed speech. synonym: "Abnormal speech" EXACT [] synonym: "Abnormal vocalisation" EXACT uk_spelling [] synonym: "Abnormal vocalization" EXACT [] synonym: "Abnormality of speech or vocalization" EXACT [] xref: UMLS:C0037822 is_a: HP:4000072 ! Abnormal language feature property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0002168 name: Scanning speech def: "An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly." [PMID:16247074] synonym: "Explosive speech" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:102935005 xref: SNOMEDCT_US:77420001 xref: UMLS:C0278184 xref: UMLS:C0522198 is_a: HP:0002167 ! Abnormal speech pattern [Term] id: HP:0002169 name: Clonus def: "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [https://orcid.org/0000-0002-0736-9199] comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. synonym: "Involuntary rhythmic muscular contractions and relaxations" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:36649002 xref: UMLS:C0009024 is_a: HP:0001347 ! Hyperreflexia is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002170 name: Intracranial hemorrhage def: "Hemorrhage occurring within the skull." [HPO_CONTRIBUTOR:gcarletti] synonym: "Bleeding within the skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Intracranial haemorrhage" EXACT uk_spelling [] xref: SNOMEDCT_US:1386000 xref: UMLS:C0151699 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0100659 ! Abnormal cerebral vascular morphology [Term] id: HP:0002171 name: Gliosis def: "Gliosis is the focal proliferation of glial cells in the central nervous system." [https://orcid.org/0009-0006-4530-3154] comment: Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. synonym: "Cerebral gliosis" EXACT [] synonym: "Excess astrocytes in brain" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:359580009 xref: SNOMEDCT_US:81415000 xref: UMLS:C0017639 is_a: HP:0100705 ! Abnormal glial cell morphology [Term] id: HP:0002172 name: Postural instability def: "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps." [PMID:25613349] synonym: "Abnormal retropulsion test" RELATED [] synonym: "Balance impairment" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Imbalance" RELATED [] xref: UMLS:C1843921 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002173 name: Hypoglycemic seizures xref: UMLS:C0877056 is_a: HP:0001943 ! Hypoglycemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002174 name: Postural tremor alt_id: HP:0006925 alt_id: HP:0007197 def: "A type of tremors that is triggered by holding a limb in a fixed position." [https://orcid.org/0000-0002-0736-9199] synonym: "Tremor, postural" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:56610005 xref: UMLS:C0234378 is_a: HP:0002345 ! Action tremor [Term] id: HP:0002176 name: Spinal cord compression def: "External mechanical compression of the spinal cord." [https://orcid.org/0000-0002-0736-9199] comment: Clinical abnormalities vary according to the site of the compression any may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors. synonym: "Pressure on spinal cord" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:71286001 xref: UMLS:C0037926 is_a: HP:0002143 ! Abnormal spinal cord morphology [Term] id: HP:0002179 name: Opisthotonus def: "Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs." [PMID:29972427] synonym: "Arc de cercle" EXACT [] synonym: "Opisthotonos" EXACT [] xref: SNOMEDCT_US:8652009 xref: UMLS:C0151818 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002180 name: Neurodegeneration def: "Progressive loss of neural cells and tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Neuro-degenerative disease" RELATED [] synonym: "Neurodegenerative disease" RELATED [] synonym: "Ongoing loss of nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Progressive neurodegenerative disorder" RELATED [] xref: UMLS:C0027746 xref: UMLS:C0524851 xref: UMLS:C4020854 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002181 name: Cerebral edema def: "Abnormal accumulation of fluid in the brain." [https://orcid.org/0000-0002-0736-9199] comment: Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. synonym: "Brain edema" EXACT [] synonym: "Brain oedema" EXACT uk_spelling [] synonym: "Brain swelling" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cerebral oedema" EXACT uk_spelling [] synonym: "Swelling of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:2032001 xref: UMLS:C0006114 xref: UMLS:C1527311 is_a: HP:0000969 ! Edema is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0002183 name: Phonophobia def: "An abnormally heightened sensitivity to loud sounds." [] comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. synonym: "Fear of loud sounds" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:313387002 xref: UMLS:C0751466 is_a: HP:5200060 ! Auditory hypersensitivity property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0002185 name: Neurofibrillary tangles alt_id: HP:0003132 alt_id: HP:0007070 def: "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [https://orcid.org/0009-0006-4530-3154, PMID:19652142, PMID:38812098] synonym: "Neurofibrillary tangles composed of disordered microtubules in neurons" EXACT [] synonym: "NFTs" EXACT abbreviation [] synonym: "Paired helical filaments" EXACT [] synonym: "Tau-positive neurofibrillary tangles" EXACT [] synonym: "Tau-positive tangle" EXACT [] xref: SNOMEDCT_US:85775002 xref: UMLS:C0085400 is_a: HP:0100314 ! Cerebral inclusion bodies [Term] id: HP:0002186 name: Apraxia def: "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [] synonym: "Apraxias" RELATED [] xref: SNOMEDCT_US:68345001 xref: SNOMEDCT_US:6950007 xref: UMLS:C0003635 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002187 name: Intellectual disability, profound def: "Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [https://orcid.org/0000-0002-0736-9199] comment: Persons with profound mental retardation generally require constant care. synonym: "IQ less than 20" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability] synonym: "Mental retardation, profound" EXACT [] synonym: "Profound mental retardation" EXACT [] xref: SNOMEDCT_US:31216003 xref: UMLS:C0020796 xref: UMLS:C3161330 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002188 name: Delayed CNS myelination alt_id: HP:0005770 alt_id: HP:0006974 alt_id: HP:0007300 def: "Delayed myelination in the central nervous system." [https://orcid.org/0000-0002-0736-9199] comment: A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. synonym: "Delay in central nervous system myelination" EXACT [] xref: UMLS:C4021758 is_a: HP:0011400 ! Abnormal CNS myelination is_a: HP:0012448 ! Delayed myelination [Term] id: HP:0002189 name: obsolete Excessive daytime sleepiness is_obsolete: true replaced_by: HP:0001262 [Term] id: HP:0002190 name: Choroid plexus cyst def: "A cyst occurring within the choroid plexus within a cerebral ventricle." [https://orcid.org/0000-0002-0736-9199] comment: Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. xref: SNOMEDCT_US:230790004 xref: UMLS:C0338597 is_a: HP:0007376 ! Abnormal choroid plexus morphology [Term] id: HP:0002191 name: Progressive spasticity def: "Spasticity that increases in degree with time." [https://orcid.org/0000-0002-0736-9199] synonym: "Spasticity, progressive" EXACT [] xref: UMLS:C1859520 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002193 name: Pseudobulbar affect def: "Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience." [https://orcid.org/0009-0006-4530-3154, PMID:24348042] comment: Terminology has been varied and somewhat confusing, including involuntary emotional expression disorder, emotional lability, emotional dysregulation, pathological laughter and crying, emotional dysregulation, emotional incontinence, and emotionalism. PBA may be encountered in the setting of amyotrophic lateral sclerosis, extrapyramidal and cerebellar disorders (Parkinson disease, multiple system atrophy, progressive supranuclear palsy), multiple sclerosis, traumatic brain injury, Alzheimer disease and other dementias, stroke, and brain tumors. synonym: "Pseudobulbar behavioral symptoms" EXACT [] synonym: "Pseudobulbar behavioural symptoms" EXACT uk_spelling [] xref: UMLS:C4025720 is_a: HP:0000708 ! Atypical behavior is_a: HP:0002200 ! Pseudobulbar signs [Term] id: HP:0002194 name: Delayed gross motor development alt_id: HP:0006905 alt_id: HP:0007046 alt_id: HP:0008973 def: "A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed attainment of gross motor milestones" EXACT [] synonym: "Delayed attainment of gross motor skills" EXACT [] synonym: "Delayed development of gross motor milestones" EXACT [] synonym: "Delayed development of gross motor skills" EXACT [] synonym: "Delayed gross motor milestones" EXACT [] synonym: "Delayed gross motor skills" EXACT [] synonym: "Delayed motor skills" EXACT layperson [] synonym: "Developmental delay, gross motor" EXACT [] synonym: "Gross motor delay" EXACT [] synonym: "Limited gross motor development" EXACT [] synonym: "Limited gross motor skills" EXACT [] xref: SNOMEDCT_US:430099007 xref: UMLS:C1837658 is_a: HP:0001270 ! Motor delay [Term] id: HP:0002195 name: Dysgenesis of the cerebellar vermis def: "Defective development of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] comment: Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography. xref: UMLS:C4025719 is_a: HP:0002334 ! Abnormal cerebellar vermis morphology [Term] id: HP:0002196 name: Myelopathy def: "Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained." [PMID:27430455] comment: This is a descriptive term that should not be used for new annotations. If possible, choose a more precise HPO term that describes the actual observed abnormality.The most frequent etiology of myelopathy is related to degenerative disease of the spine. This can be due to compression of the spinal cord by an osteophyte or extruded disc material in the cervical spine or, less often, in the thoracic spine. Subsequent to degenerative etiology, the next common etiologies are spinal cord compression due to extradural masses caused by metastatic disease to bone or blunt trauma. There are also primary neoplastic, infectious, inflammatory, neurodegenerative, vascular, nutritional, and idiopathic disorders that lead to myelopathy. xref: SNOMEDCT_US:48522003 xref: UMLS:C0037928 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0034238 ! Closed neural tube defect [Term] id: HP:0002197 name: Generalized-onset seizure alt_id: HP:0002409 alt_id: HP:0007114 alt_id: HP:0007339 def: "A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex." [https://orcid.org/0000-0002-0736-9199, PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064, PMID:6790275] comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalized onset does not rule out a focal-onset obscured by limitations of our current clinical methods. synonym: "Generalised onset seizure" EXACT uk_spelling [] synonym: "Generalised seizures" EXACT uk_spelling [] synonym: "Generalised-onset seizure" EXACT uk_spelling [] synonym: "Generalized onset seizure" EXACT [] synonym: "Generalized seizures" EXACT plural_form [] synonym: "Generalized-onset seizures" EXACT plural_form [] synonym: "Primary generalised seizure" EXACT uk_spelling [] synonym: "Primary generalized seizure" EXACT [] xref: SNOMEDCT_US:246545002 xref: UMLS:C0234533 xref: UMLS:C1833488 is_a: HP:0001250 ! Seizure [Term] id: HP:0002198 name: Dilated fourth ventricle alt_id: HP:0007223 def: "An abnormal dilatation of the fourth cerebral ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged fourth ventricle" EXACT [] xref: UMLS:C1847117 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0010950 ! Abnormal fourth ventricle morphology [Term] id: HP:0002199 name: Hypocalcemic seizures synonym: "Low calcium seizures" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Seizures due to hypocalcemia" EXACT [] xref: UMLS:C1855841 is_a: HP:0002901 ! Hypocalcemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002200 name: Pseudobulbar signs def: "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [https://orcid.org/0009-0006-4530-3154] synonym: "Pseudobulbar symptoms" EXACT [] xref: UMLS:C1838579 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0002202 name: Pleural effusion def: "The presence of an excessive amount of fluid in the pleural cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Fluid around lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:60046008 xref: UMLS:C0032227 is_a: HP:0000969 ! Edema is_a: HP:0002103 ! Abnormal pleura morphology [Term] id: HP:0002203 name: Respiratory paralysis def: "Inability to move the muscles of respiration." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:64228003 xref: UMLS:C0035232 is_a: HP:0003470 ! Paralysis is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002204 name: Pulmonary embolism def: "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." [] synonym: "Blood clot in artery of lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:59282003 xref: UMLS:C0034065 is_a: HP:0030875 ! Abnormality of pulmonary circulation [Term] id: HP:0002205 name: Recurrent respiratory infections alt_id: HP:0002782 alt_id: HP:0002873 def: "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent respiratory infections" EXACT layperson [] synonym: "Multiple respiratory infections" EXACT layperson [] synonym: "Recurrent respiratory infections" EXACT layperson [] synonym: "respiratory infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Susceptibility to respiratory infections" EXACT layperson [] xref: UMLS:C3806482 is_a: HP:0002719 ! Recurrent infections is_a: HP:0011947 ! Respiratory tract infection [Term] id: HP:0002206 name: Pulmonary fibrosis alt_id: HP:0006523 def: "Replacement of normal lung tissues by fibroblasts and collagen." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199] comment: Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. xref: SNOMEDCT_US:51615001 xref: UMLS:C0034069 is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology [Term] id: HP:0002207 name: Diffuse reticular or finely nodular infiltrations xref: UMLS:C1843428 is_a: HP:0002113 ! Pulmonary infiltrates [Term] id: HP:0002208 name: Coarse hair alt_id: HP:0200078 def: "Hair shafts are rough in texture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Coarse hair" EXACT layperson [] synonym: "Coarse hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Rough hair texture" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:48610005 xref: UMLS:C0277959 xref: UMLS:C4072834 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002209 name: Sparse scalp hair alt_id: HP:0002233 alt_id: HP:0002556 alt_id: HP:0004526 alt_id: HP:0004534 alt_id: HP:0004541 alt_id: HP:0004542 alt_id: HP:0004772 alt_id: HP:0004774 alt_id: HP:0004775 alt_id: HP:0004782 def: "Decreased number of hairs per unit area of skin of the scalp." [PMID:19125436, PMID:28061825] comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. synonym: "Decreased number of scalp follicles" EXACT [] synonym: "Hypotrichosis on scalp" EXACT [] synonym: "Reduced amount of scalp hair" EXACT layperson [] synonym: "Reduced/lack of hair on scalp" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Reduction in the number of scalp follicles" EXACT [] synonym: "Scalp hypotrichosis" EXACT [] synonym: "Sparse scalp hair" EXACT layperson [] synonym: "Thin scalp hair" RELATED layperson [] synonym: "Thinning scalp hair" EXACT layperson [] xref: UMLS:C1857042 xref: UMLS:C1873509 is_a: HP:0008070 ! Sparse hair is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002211 name: White forelock def: "A triangular depigmented region of white hairs located in the anterior midline of the scalp." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Poliosis of anterior hair" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Poliosis of forelock hair" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "White part of hair above forehead" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:247564004 xref: UMLS:C0344312 is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002212 name: Curly hair synonym: "Curly hair" EXACT layperson [] xref: SNOMEDCT_US:225570000 xref: UMLS:C0558165 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002213 name: Fine hair alt_id: HP:0200132 def: "Hair that is fine or thin to the touch." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Fine hair" EXACT layperson [] synonym: "Fine hair shaft" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fine hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin hair" EXACT [] synonym: "Thin hair shaft" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thinned hair" EXACT [] xref: SNOMEDCT_US:247546006 xref: UMLS:C0423867 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002215 name: Sparse axillary hair alt_id: HP:0004514 alt_id: HP:0004518 alt_id: HP:0004545 def: "Reduced number or density of axillary hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Limited armpit hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Little underarm hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Sparse axillary and pubic hair" BROAD [] synonym: "Sparse scalp, axillary, and pubic hair" BROAD [] synonym: "sparse to absent axillary hair" EXACT [] xref: UMLS:C1858574 is_a: HP:0008070 ! Sparse hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002216 name: Premature graying of hair def: "Development of gray hair at a younger than normal age." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Early graying" EXACT layperson [] synonym: "Early greying" EXACT uk_spelling [] synonym: "Premature graying" EXACT layperson [] synonym: "Premature graying of hair" EXACT layperson [] synonym: "Premature graying of the hair" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Premature greying" EXACT uk_spelling [] synonym: "Premature greying of hair" EXACT uk_spelling [] synonym: "Premature greying of the hair" RELATED uk_spelling [] synonym: "Premature hair graying" EXACT layperson [] synonym: "Premature hair greying" EXACT uk_spelling [] xref: SNOMEDCT_US:387833009 xref: UMLS:C0263498 is_a: HP:0007495 ! Prematurely aged appearance is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002217 name: Slow-growing hair alt_id: HP:0004767 alt_id: HP:0004770 alt_id: HP:0004781 def: "Hair whose growth is slower than normal." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Delayed hair growth" EXACT [] synonym: "Poor hair growth" EXACT [] synonym: "Slow growing hair" EXACT layperson [] synonym: "Slow rate of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Slow speed of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Slow-growing hair" EXACT layperson [] xref: UMLS:C1832348 is_a: HP:0011363 ! Abnormality of hair growth rate [Term] id: HP:0002218 name: Silver-gray hair def: "Hypopigmented hair that appears silver-gray." [https://orcid.org/0000-0002-0736-9199] synonym: "Silver-gray hair" EXACT layperson [] synonym: "Silver-gray hair color" EXACT layperson [] synonym: "Silver-gray hair colour" EXACT uk_spelling [] synonym: "Silvery-gray hair" EXACT layperson [] xref: UMLS:C1836576 is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002219 name: Facial hypertrichosis def: "Excessive, increased hair growth located in the facial region." [] synonym: "Increased facial hair growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1851400 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0002220 name: Melanin pigment aggregation in hair shafts xref: UMLS:C1843390 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002221 name: Absent axillary hair alt_id: HP:0004549 def: "Absence of axillary hair." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859392 is_a: HP:0002298 ! Absent hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002223 name: Absent eyebrow def: "Absence of the eyebrow." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent eyebrow" EXACT layperson [] synonym: "Absent eyebrows" EXACT [] synonym: "Agenesis of eyebrows" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of eyebrows" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Loss of eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:253208007 xref: SNOMEDCT_US:422441003 xref: UMLS:C0431448 xref: UMLS:C0578682 xref: UMLS:C4280581 xref: UMLS:C4280582 is_a: HP:0002298 ! Absent hair is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow [Term] id: HP:0002224 name: Woolly hair def: "The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter." [PMID:20464096] comment: See figures in PMID:20464096. subset: hposlim_core synonym: "Afro-textured hair" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Kinked hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Kinky hair texture" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nappy hair texture" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wooly hair" EXACT [] xref: MEDDRA:10048017 "Wooly hair" xref: SNOMEDCT_US:52564001 xref: UMLS:C0343073 xref: UMLS:C4072835 xref: UMLS:C4072836 xref: UMLS:C4073292 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002225 name: Sparse pubic hair alt_id: HP:0004778 def: "Reduced number or density of pubic hair." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased sexual hair" EXACT layperson [] synonym: "Sparse pubic hair" EXACT layperson [] synonym: "sparse to absent pubic hair" EXACT [] xref: UMLS:C1858573 is_a: HP:0008070 ! Sparse hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002226 name: White eyebrow alt_id: HP:0002228 alt_id: HP:0004536 def: "White color (lack of pigmentation) of the eyebrow." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blonde eyebrow" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depigmented eyebrow" EXACT [] synonym: "Grey eyebrow" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypopigmented eyebrow" EXACT [] synonym: "Pale eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "White eyebrow" EXACT layperson [] xref: UMLS:C1836737 xref: UMLS:C4280579 xref: UMLS:C4280580 is_a: HP:0000534 ! Abnormal eyebrow morphology is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002227 name: White eyelashes def: "White color (lack of pigmentation) of the eyelashes." [https://orcid.org/0000-0003-1773-4011] synonym: "Blonde eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depigmented eyelashes" EXACT [] synonym: "Grey eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pale eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "White eyelashes" EXACT layperson [] xref: UMLS:C1836736 xref: UMLS:C4280578 is_a: HP:0000499 ! Abnormal eyelash morphology is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002229 name: obsolete Alopecia areata is_obsolete: true replaced_by: HP:0002232 [Term] id: HP:0002230 name: Generalized hirsutism def: "Abnormally increased hair growth over much of the entire body." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive hairiness over body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Generalised hirsutism" EXACT uk_spelling [] xref: UMLS:C1849211 is_a: HP:0001007 ! Hirsutism [Term] id: HP:0002231 name: Sparse body hair def: "Sparseness of the body hair." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Limited body hair" EXACT [] synonym: "Little body hair" EXACT [] synonym: "Sparse body hair" EXACT layperson [] synonym: "Sparse to absent body hair" EXACT [] xref: UMLS:C1862863 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002232 name: Patchy alopecia alt_id: HP:0002229 def: "Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches." [] synonym: "Alopecia areata" EXACT [] synonym: "Patchy baldness" EXACT layperson [] xref: SNOMEDCT_US:68225006 xref: UMLS:C0002171 xref: UMLS:C1862862 is_a: HP:0001596 ! Alopecia is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002234 name: Early balding def: "Loss of scalp hair at an earlier than normal age." [https://orcid.org/0000-0002-0736-9199] synonym: "Early balding" EXACT layperson [] xref: UMLS:C4025718 is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002235 name: Pili canaliculi alt_id: HP:0002285 def: "A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:8274794] xref: UMLS:C1860608 is_a: HP:0003328 ! Abnormal hairshaft morphology [Term] id: HP:0002236 name: Frontal upsweep of hair def: "Upward and/or sideward growth of anterior hair." [PMID:19125436] subset: hposlim_core synonym: "Cowlick" EXACT layperson [] synonym: "Frontal Cowlick" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Frontal upsweep of hair" EXACT layperson [] synonym: "Upswept frontal hair" EXACT layperson [] synonym: "Upswept frontal hair pattern" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Upswept frontal hairline" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1185616 xref: UMLS:C2675540 xref: UMLS:C3275754 is_a: HP:0010721 ! Abnormal hair whorl [Term] id: HP:0002239 name: Gastrointestinal hemorrhage def: "Hemorrhage affecting the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Gastrointestinal bleeding" EXACT layperson [] synonym: "Gastrointestinal haemorrhage" EXACT uk_spelling [] synonym: "GI haemorrhage" EXACT uk_spelling [] synonym: "GI hemorrhage" EXACT abbreviation [] xref: SNOMEDCT_US:74474003 xref: UMLS:C0017181 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0002240 name: Hepatomegaly alt_id: HP:0001393 alt_id: HP:0001398 def: "Abnormally increased size of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged liver" EXACT layperson [] xref: SNOMEDCT_US:80515008 xref: UMLS:C0019209 is_a: HP:0003271 ! Visceromegaly is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0002242 name: Abnormal intestine morphology alt_id: HP:0002628 def: "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the intestine" EXACT layperson [] synonym: "Enteropathy" EXACT [] xref: SNOMEDCT_US:85919009 xref: UMLS:C0021831 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology [Term] id: HP:0002243 name: Protein-losing enteropathy def: "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] comment: Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. xref: SNOMEDCT_US:22542007 xref: SNOMEDCT_US:66972006 xref: UMLS:C0033680 is_a: HP:0002244 ! Abnormal small intestine morphology [Term] id: HP:0002244 name: Abnormal small intestine morphology def: "A structural abnormality of the small intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the small intestine" EXACT [] xref: UMLS:C4025717 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002245 name: Meckel diverticulum def: "Meckel's diverticulum is a congenital diverticulum located in the distal ileum." [https://orcid.org/0000-0002-0736-9199] xref: MEDDRA:10027055 "Meckel's diverticulum" xref: SNOMEDCT_US:127962001 xref: SNOMEDCT_US:37373007 xref: UMLS:C0025037 is_a: HP:0001549 ! Abnormal ileum morphology [Term] id: HP:0002246 name: Abnormal duodenum morphology def: "An abnormality of the duodenum, i.e., the first section of the small intestine." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the duodenum" EXACT [] xref: UMLS:C4025716 is_a: HP:0002244 ! Abnormal small intestine morphology [Term] id: HP:0002247 name: Duodenal atresia def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absence or narrowing of first part of small bowel" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:4406 xref: MEDDRA:10013812 "Duodenal atresia" xref: SNOMEDCT_US:51118003 xref: UMLS:C0266174 is_a: HP:0002246 ! Abnormal duodenum morphology is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0002248 name: Hematemesis def: "The vomiting of blood." [https://orcid.org/0000-0002-0736-9199] comment: The source of hematemesis is generally the upper gastrointestinal tract. synonym: "Vomiting blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:8765009 xref: UMLS:C0018926 is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002249 name: Melena def: "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [https://orcid.org/0000-0002-0736-9199] synonym: "Black faeces" NARROW uk_spelling [] synonym: "Black feces" NARROW layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:249627005 xref: SNOMEDCT_US:267055007 xref: SNOMEDCT_US:269899009 xref: SNOMEDCT_US:2901004 xref: SNOMEDCT_US:35064005 xref: UMLS:C0025222 xref: UMLS:C0474585 is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0025085 ! Bloody diarrhea [Term] id: HP:0002250 name: Abnormal large intestine morphology def: "Any abnormality of the large intestine." [https://orcid.org/0000-0002-0736-9199] comment: The large intestine comprises the cecum and colon. synonym: "Abnormality of the large intestine" EXACT layperson [] xref: UMLS:C4025715 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002251 name: Aganglionic megacolon alt_id: HP:0002029 alt_id: HP:0002030 alt_id: HP:0002606 alt_id: HP:0004391 def: "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [https://orcid.org/0000-0002-0736-9199, PMID:17965226] comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. subset: hposlim_core synonym: "Enlarged colon lacking nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hirschsprung disease" RELATED [] synonym: "Hirschsprung megacolon" EXACT [] is_a: HP:0004362 ! Abnormal enteric ganglion morphology is_a: HP:6000852 ! Megacolon [Term] id: HP:0002253 name: Colonic diverticula alt_id: HP:0005860 def: "The presence of multiple diverticula of the colon." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Colon diverticula" RELATED [] synonym: "Colonic diverticulosis" EXACT [] xref: MEDDRA:10009993 "Colonic diverticulosis" xref: SNOMEDCT_US:398050005 xref: UMLS:C0012811 xref: UMLS:C0012819 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002254 name: Intermittent diarrhea def: "Repeated episodes of diarrhea separated by periods without diarrhea." [] synonym: "Episodic diarrhea" EXACT [] synonym: "Episodic diarrhoea" EXACT uk_spelling [] synonym: "Intermittent diarrhoea" EXACT uk_spelling [] xref: UMLS:C0239181 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002256 name: Small bowel diverticula subset: hposlim_core xref: MEDDRA:10013533 "Diverticula of small intestine" xref: SNOMEDCT_US:8114009 xref: UMLS:C0267498 is_a: HP:0002244 ! Abnormal small intestine morphology is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002257 name: Chronic rhinitis def: "Chronic inflammation of the nasal mucosa." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:86094006 xref: UMLS:C0008711 is_a: HP:0012384 ! Rhinitis [Term] id: HP:0002263 name: Exaggerated cupid's bow def: "More pronounced paramedian peaks and median notch of the Cupid's bow." [PMID:19125428] comment: This may be associated with a Deep philtrum, but that finding should be coded separately. subset: hposlim_core synonym: "Cupid bow upper lip" EXACT layperson [] synonym: "Cupid's bow, accentuated" EXACT [] synonym: "Cupid-bow shaped upper lip" EXACT layperson [] synonym: "Exaggerated cupid's bow" EXACT layperson [] synonym: "Prominent cupid-bow of upper lip" EXACT layperson [] xref: UMLS:C1850629 is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0002265 name: Large fleshy ears synonym: "Large fleshy ears" EXACT layperson [] xref: UMLS:C3808403 is_a: HP:0000400 ! Macrotia [Term] id: HP:0002266 name: Focal clonic seizure def: "A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] comment: The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). synonym: "Focal clonic seizures" EXACT plural_form [] synonym: "Localised clonic seizure" EXACT uk_spelling [] synonym: "Localized clonic seizure" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Partial clonic seizure" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Segmental clonic seizure" EXACT [] xref: UMLS:C0752323 is_a: HP:0011153 ! Focal motor seizure is_a: HP:0020221 ! Clonic seizure [Term] id: HP:0002267 name: Exaggerated startle response def: "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Exaggerated acoustic startle response" EXACT [] synonym: "Hyperekplexia" RELATED [] synonym: "Increased startle response" EXACT [] xref: SNOMEDCT_US:19557000 xref: UMLS:C0234166 xref: UMLS:C1740801 xref: UMLS:C1836014 xref: UMLS:C1848918 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002268 name: Paroxysmal dystonia alt_id: HP:0002412 def: "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic dystonia" EXACT [] xref: SNOMEDCT_US:230310003 xref: UMLS:C0393588 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002269 name: Abnormality of neuronal migration alt_id: HP:0007317 def: "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal neuronal migration" EXACT [] synonym: "Heterotopias/abnormal migration" EXACT [] synonym: "Migrational brain disorder" EXACT [] synonym: "Neuronal migration disorder" EXACT [] xref: UMLS:C1837249 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002270 name: Abnormality of the autonomic nervous system def: "An abnormality of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199] comment: The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. xref: UMLS:C4025714 is_a: HP:0410008 ! Abnormality of the peripheral nervous system [Term] id: HP:0002271 name: obsolete Autonomic dysregulation is_obsolete: true replaced_by: HP:0012332 [Term] id: HP:0002273 name: Tetraparesis alt_id: HP:0002338 def: "Weakness of all four limbs." [https://orcid.org/0000-0002-0736-9199] comment: Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. synonym: "Quadriparesis" EXACT [] xref: SNOMEDCT_US:91327001 xref: UMLS:C0270790 is_a: HP:0030182 ! Tetraplegia/tetraparesis [Term] id: HP:0002275 name: Poor motor coordination synonym: "Poor motor coordination" EXACT layperson [] xref: UMLS:C1848453 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0002277 name: Horner syndrome alt_id: HP:0000596 def: "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection." [https://orcid.org/0000-0002-0736-9199] comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. synonym: "Horner's syndrome" EXACT [] synonym: "Oculosympathetic palsy" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:12731000 xref: SNOMEDCT_US:192915005 xref: SNOMEDCT_US:271730003 xref: UMLS:C0019937 is_a: HP:0000508 ! Ptosis is_a: HP:0000616 ! Miosis is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0002280 name: Enlarged cisterna magna def: "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata." [https://orcid.org/0000-0002-0736-9199] comment: Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. synonym: "Large cisterna magna" EXACT [] synonym: "Mega cisterna magna" RELATED [] xref: UMLS:C1853377 is_a: HP:0005445 ! Enlarged posterior fossa [Term] id: HP:0002281 name: obsolete Gray matter heterotopias is_obsolete: true replaced_by: HP:0002282 [Term] id: HP:0002282 name: Gray matter heterotopia alt_id: HP:0002281 alt_id: HP:0007314 def: "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438] comment: Gray matter heterotopia is caused by clumps of gray matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of gray matter within the white matter, and the term gray matter heterotopia is more frequently used. synonym: "Gray matter heterotopias" EXACT plural_form [] synonym: "Grey matter heterotopia" EXACT uk_spelling [] synonym: "Grey matter heterotopias" EXACT uk_spelling [] synonym: "Heterotopia" EXACT [] synonym: "Heterotopias" EXACT plural_form [] synonym: "Neuronal heterotopia" EXACT [] xref: SNOMEDCT_US:128490007 xref: SNOMEDCT_US:416286003 xref: SNOMEDCT_US:417338002 xref: UMLS:C0008519 is_a: HP:0002269 ! Abnormality of neuronal migration [Term] id: HP:0002283 name: Global brain atrophy alt_id: HP:0002369 alt_id: HP:0002462 def: "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size." [https://orcid.org/0009-0006-4530-3154] comment: Global brain atrophy can be visualized and quantified by magnetic resonance imaging. synonym: "Diffuse brain atrophy" EXACT [] synonym: "Generalised brain atrophy" EXACT uk_spelling [] synonym: "Generalised brain degeneration" EXACT uk_spelling [] synonym: "Generalised cerebral atrophy" EXACT uk_spelling [] synonym: "Generalized brain atrophy" EXACT [] synonym: "Generalized brain degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Generalized cerebral atrophy" EXACT [] xref: UMLS:C0241816 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012444 ! Brain atrophy [Term] id: HP:0002286 name: Fair hair alt_id: HP:0002214 alt_id: HP:0002294 def: "A lesser degree of hair pigmentation than would otherwise be expected." [https://orcid.org/0000-0003-1773-4011] comment: For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. synonym: "Blond hair" EXACT layperson [] synonym: "Fair hair" EXACT layperson [] synonym: "Fair hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fair hair colour" EXACT uk_spelling [] synonym: "Flaxen hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flaxen hair colour" EXACT uk_spelling [] synonym: "Light colored hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Light coloured hair" EXACT uk_spelling [] synonym: "Sandy hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Sandy hair colour" EXACT uk_spelling [] synonym: "Straw colored hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Straw coloured hair" EXACT uk_spelling [] synonym: "Towhead (hair color)" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:297995004 xref: UMLS:C0239801 xref: UMLS:C1849221 is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002287 name: Progressive alopecia def: "Progressive loss of hair." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1851885 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002289 name: Alopecia universalis alt_id: HP:0004550 def: "Loss of all hair on the entire body." [https://orcid.org/0000-0002-0736-9199] synonym: "Alopecia, complete" EXACT [] synonym: "Universal alopecia" RELATED [] xref: SNOMEDCT_US:86166000 xref: UMLS:C0263505 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002290 name: Poliosis def: "Circumscribed depigmentation of the hair of the head or the eyelashes." [https://orcid.org/0000-0002-0736-9199] synonym: "Patch of white hair" EXACT layperson [] synonym: "White patch" EXACT layperson [] xref: SNOMEDCT_US:14240001 xref: UMLS:C0221262 is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002292 name: Frontal balding def: "Absence of hair in the anterior midline and/or parietal areas." [PMID:19125436] subset: hposlim_core synonym: "Frontal balding" EXACT layperson [] synonym: "Male pattern baldness" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:87872006 xref: UMLS:C1864584 xref: UMLS:C4083212 is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002293 name: Alopecia of scalp alt_id: HP:0200115 synonym: "Absence of scalp hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Baldness" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing scalp hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pathologic hair loss from scalp" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Scalp hair loss" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:278040002 xref: SNOMEDCT_US:298000004 xref: SNOMEDCT_US:56317004 xref: UMLS:C0002170 xref: UMLS:C0574769 xref: UMLS:C1850535 is_a: HP:0001596 ! Alopecia is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002296 name: Progressive hypotrichosis def: "Progressively reduced or lacking hair growth." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857048 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002297 name: Red hair synonym: "Ginger hair color" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ginger hair colour" BROAD uk_spelling [] synonym: "Red hair" EXACT layperson [] synonym: "Red hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Red hair colour" EXACT uk_spelling [] synonym: "Red head (hair color)" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:297997007 xref: UMLS:C0239803 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002298 name: Absent hair alt_id: HP:0004548 synonym: "Absent hair" EXACT layperson [] xref: SNOMEDCT_US:297991008 xref: UMLS:C0574763 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0002299 name: Brittle hair def: "Fragile, easily breakable hair, i.e., with reduced tensile strength." [https://orcid.org/0000-0003-1773-4011] comment: Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). synonym: "Brittle hair" EXACT layperson [] synonym: "Easily breakable hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fractured hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fragile hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced tensile strength of hair" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:25159003 xref: UMLS:C0263490 xref: UMLS:C1851868 xref: UMLS:C1970705 xref: UMLS:C4072837 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002300 name: Mutism def: "Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development." [PMID:26709680] synonym: "Inability to speak" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muteness" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:88052002 xref: UMLS:C0026884 is_a: HP:0002167 ! Abnormal speech pattern property_value: terms:contributor https://orcid.org/0000-0001-5395-5036 property_value: terms:contributor https://orcid.org/0000-0001-6886-767X property_value: terms:contributor https://orcid.org/0000-0001-8423-2623 property_value: terms:contributor https://orcid.org/0000-0001-9114-8737 property_value: terms:contributor https://orcid.org/0000-0002-0375-6247 property_value: terms:contributor https://orcid.org/0000-0002-2414-5605 property_value: terms:contributor https://orcid.org/0000-0002-4487-3589 [Term] id: HP:0002301 name: Hemiplegia def: "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Paralysis on one side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:50582007 xref: UMLS:C0018991 is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0002304 name: Akinesia def: "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [https://orcid.org/0000-0002-0736-9199] comment: Akinesia is a typical extrapyramidal abnormality. xref: SNOMEDCT_US:33994004 xref: UMLS:C0085623 is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002305 name: Athetosis alt_id: HP:0007167 alt_id: HP:0007316 def: "A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest." [https://orcid.org/0000-0002-0736-9199, PMID:20589866] comment: Athetosis derives from the Greek word for 'changeable' or 'unfixed'. synonym: "Athetoid movements" EXACT [] synonym: "Involuntary writhing movements" EXACT [] synonym: "Involuntary writhing movements in fingers, hands, toes, and feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:44913001 xref: SNOMEDCT_US:58593005 xref: UMLS:C0004158 xref: UMLS:C1845265 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002307 name: Drooling def: "Habitual flow of saliva out of the mouth." [https://orcid.org/0000-0002-0736-9199, PMID:15202698] synonym: "Dribbling" EXACT layperson [] synonym: "Drooling" EXACT layperson [] synonym: "Sialorrhea" EXACT [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:275295002 xref: SNOMEDCT_US:53827007 xref: SNOMEDCT_US:62718007 xref: UMLS:C0013132 xref: UMLS:C0037036 is_a: HP:0003781 ! Excessive salivation [Term] id: HP:0002308 name: Chiari malformation def: "Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [https://orcid.org/0000-0002-0736-9199, PMID:28613730] synonym: "Arnold-Chiari malformation" EXACT [] synonym: "Cerebellar tonsillar ectopia" EXACT [] xref: SNOMEDCT_US:253184003 xref: UMLS:C0003803 is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002310 name: Orofacial dyskinesia synonym: "Orofacial dyskinesias" EXACT [] xref: SNOMEDCT_US:49386006 xref: UMLS:C0152115 is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0002311 name: Incoordination alt_id: HP:0002276 synonym: "Difficulties in coordination" EXACT layperson [] synonym: "Incoordination" EXACT layperson [] synonym: "Incoordination of limb movements" EXACT layperson [] synonym: "Limb incoordination" EXACT layperson [] xref: SNOMEDCT_US:281016006 xref: SNOMEDCT_US:302289002 xref: UMLS:C0520966 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0002312 name: Clumsiness def: "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [https://orcid.org/0000-0002-0736-9199] synonym: "Clumsiness" EXACT layperson [] xref: SNOMEDCT_US:7006003 xref: UMLS:C0233844 is_a: HP:0002311 ! Incoordination [Term] id: HP:0002313 name: Spastic paraparesis alt_id: HP:0007191 def: "Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs." [PMID:19277459] xref: SNOMEDCT_US:312444006 xref: UMLS:C0037771 is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0002385 ! Paraparesis [Term] id: HP:0002314 name: Degeneration of the lateral corticospinal tracts alt_id: HP:0007254 def: "Deterioration of the tissues of the lateral corticospinal tracts." [https://orcid.org/0000-0002-0736-9199] synonym: "Degeneration of lateral corticospinal tracts" EXACT [] xref: UMLS:C1846566 is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0002315 name: Headache alt_id: HP:0000266 alt_id: HP:0001354 def: "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [https://orcid.org/0000-0002-0736-9199, PMID:15304572] comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumor or head injury; for the primary disorders the headache is not due to another condition. synonym: "Headache" EXACT layperson [] synonym: "Headaches" EXACT layperson [] xref: SNOMEDCT_US:25064002 xref: UMLS:C0018681 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0002317 name: Unsteady gait synonym: "Gait instability" EXACT [] synonym: "Unsteady walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:22631008 xref: SNOMEDCT_US:394616008 xref: UMLS:C0231686 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002318 name: Cervical myelopathy alt_id: HP:0005788 def: "A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine." [] synonym: "Cervical spondylotic myelopathy" EXACT [] synonym: "Degenerative cervical myelopathy" EXACT [] xref: SNOMEDCT_US:202664003 xref: UMLS:C0149645 is_a: HP:0002196 ! Myelopathy [Term] id: HP:0002321 name: Vertigo def: "An abnormal sensation of spinning while the body is actually stationary." [https://orcid.org/0000-0002-0736-9199] synonym: "Dizziness" RELATED layperson [] synonym: "Dizzy spell" EXACT layperson [] xref: SNOMEDCT_US:271789005 xref: SNOMEDCT_US:399090003 xref: SNOMEDCT_US:399153001 xref: SNOMEDCT_US:404640003 xref: UMLS:C0012833 xref: UMLS:C0042571 is_a: HP:0001751 ! Abnormal vestibular function [Term] id: HP:0002322 name: Resting tremor def: "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [https://orcid.org/0000-0002-0736-9199, PMID:22675666] comment: Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width. synonym: "Parkinsonian tremor" RELATED [] synonym: "Rest tremor" EXACT [] synonym: "Resting tremor" EXACT layperson [] synonym: "Tremor at rest" EXACT layperson [] xref: SNOMEDCT_US:25082004 xref: UMLS:C0234379 is_a: HP:0001337 ! Tremor [Term] id: HP:0002323 name: Anencephaly def: "Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development." [PMID:31424828, PMID:32706613] comment: See Figure 3 of PMID:32706613. synonym: "Embryonic anencephaly" EXACT [] synonym: "Fetal anencephaly" EXACT [] synonym: "Foetal anencephaly" EXACT uk_spelling [] xref: Fyler:4332 xref: SNOMEDCT_US:89369001 xref: UMLS:C0002902 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum is_a: HP:0034237 ! Open neural tube defect [Term] id: HP:0002324 name: Hydranencephaly def: "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Hydrancephaly" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:30023002 xref: UMLS:C0020225 is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002326 name: Transient ischemic attack synonym: "Mini stroke" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "TIA" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "Transient ischaemic attack" EXACT uk_spelling [] synonym: "Transient ischaemic attacks" EXACT uk_spelling [] synonym: "Transient ischemic attacks" EXACT [] xref: UMLS:C0917805 is_a: HP:0001297 ! Stroke is_a: HP:0002637 ! Cerebral ischemia [Term] id: HP:0002329 name: Drowsiness def: "Abnormal feeling of sleepiness or difficulty staying awake." [PMID:34589772] synonym: "Abnormal drowsiness" EXACT [] synonym: "Drowsiness" EXACT layperson [] synonym: "Sleepiness" EXACT [] synonym: "Sleepy" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Somnolence" EXACT [] xref: SNOMEDCT_US:271782001 xref: SNOMEDCT_US:79519003 xref: UMLS:C0013144 is_a: HP:0004372 ! Reduced consciousness property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0002330 name: Paroxysmal drowsiness def: "A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep" [] synonym: "A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep" EXACT [] xref: UMLS:C4025713 is_a: HP:0002329 ! Drowsiness property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0002331 name: Recurrent paroxysmal headache def: "Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1854337 is_a: HP:0002315 ! Headache [Term] id: HP:0002332 name: Lack of peer relationships def: "The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers." [] xref: UMLS:C1845337 is_a: HP:5200016 ! Abnormal peer relationships property_value: terms:contributor https://orcid.org/0000-0001-9112-5148 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-6670-9157 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 [Term] id: HP:0002333 name: Motor deterioration def: "Loss of previously present motor (i.e., movement) abilities." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive degeneration of movement" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1866284 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002334 name: Abnormal cerebellar vermis morphology def: "An anomaly of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] comment: The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. synonym: "Abnormality of the cerebellar vermis" EXACT [] xref: UMLS:C4025712 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0002335 name: Agenesis of cerebellar vermis alt_id: HP:0007125 def: "Congenital absence of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebellar vermis aplasia" EXACT [] synonym: "Vermian agenesis" EXACT [] xref: SNOMEDCT_US:253175003 xref: SNOMEDCT_US:716997004 xref: UMLS:C0431399 is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0002339 name: Abnormal caudate nucleus morphology def: "Any structural abnormality of the caudate nucleus." [https://orcid.org/0000-0002-0736-9199] comment: The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. synonym: "Abnormality of the caudate nucleus" EXACT [] xref: UMLS:C4025711 is_a: HP:0010994 ! Abnormal corpus striatum morphology [Term] id: HP:0002340 name: Caudate atrophy synonym: "Caudate degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1858116 is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus [Term] id: HP:0002341 name: Cervical cord compression alt_id: HP:0007145 def: "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness." [https://orcid.org/0000-0002-0736-9199] synonym: "Cervical cord compression myelopathy" EXACT [] xref: UMLS:C0852866 is_a: HP:0002176 ! Spinal cord compression [Term] id: HP:0002342 name: Intellectual disability, moderate alt_id: HP:0007303 def: "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [https://orcid.org/0000-0002-0736-9199] synonym: "IQ between 34 and 49" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability] synonym: "Mental retardation, moderate" EXACT [] synonym: "Moderate mental deficiency" EXACT [] synonym: "Moderate mental retardation" EXACT [] xref: SNOMEDCT_US:61152003 xref: UMLS:C0026351 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002343 name: Normal pressure hydrocephalus def: "A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture." [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199] comment: Normal pressure hydrocephalus rarely occurs in patients younger than 60 years. synonym: "Normal-pressure hydrocephalus" EXACT [] xref: SNOMEDCT_US:30753002 xref: UMLS:C0020258 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0002344 name: Progressive neurologic deterioration synonym: "Neurologic deterioration" EXACT [] synonym: "Neurologic deterioration, progressive" EXACT [] synonym: "Progressive mental deterioration" EXACT [] synonym: "Progressive neurodegeneration" EXACT [] synonym: "Worsening neurological symptoms" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1854838 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002345 name: Action tremor def: "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [https://orcid.org/0000-0002-0736-9199] comment: Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors synonym: "Ataxic tremor" RELATED [] xref: SNOMEDCT_US:30721006 xref: UMLS:C0234376 xref: UMLS:C4020853 is_a: HP:0001337 ! Tremor [Term] id: HP:0002346 name: Head tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting head movement." [https://orcid.org/0000-0002-0736-9199] synonym: "Head tremor" EXACT layperson [] xref: UMLS:C0239882 is_a: HP:0030188 ! Tremor by anatomical site [Term] id: HP:0002349 name: Focal aware seizure def: "A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178, PMID:28276060, PMID:28276062, PMID:28276064] comment: In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures. synonym: "Focal aware seizures" EXACT plural_form [] synonym: "Focal seizure with retained awareness" EXACT [] synonym: "Focal seizure without impairment of awareness" EXACT [] synonym: "Focal seizure without impairment of consciousness or awareness" EXACT [] synonym: "Focal seizures without impairment of consciousness or awareness" EXACT plural_form [] synonym: "Partial seizure with retained awareness" EXACT [] synonym: "Partial seizure without impairment of awareness" EXACT [] synonym: "Simple partial seizure" EXACT [] synonym: "Simple partial seizures" EXACT plural_form [] xref: SNOMEDCT_US:117891000119100 xref: SNOMEDCT_US:79348005 xref: UMLS:C0234974 is_a: HP:0007359 ! Focal-onset seizure [Term] id: HP:0002350 name: Cerebellar cyst synonym: "Cerebellar cysts" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1847762 is_a: HP:0002438 ! Cerebellar malformation is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0002352 name: Leukoencephalopathy alt_id: HP:0006838 alt_id: HP:0007073 def: "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be demonstrated by magnetic resonance imaging or computer tomography. xref: SNOMEDCT_US:22811006 xref: UMLS:C0270612 is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0002353 name: EEG abnormality alt_id: HP:0001346 alt_id: HP:0002429 alt_id: HP:0006841 def: "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal EEG" EXACT abbreviation [] synonym: "Abnormal electroencephalogram" EXACT [] synonym: "EEG abnormalities" EXACT abbreviation [] synonym: "Electroencephalogram abnormal" EXACT [] synonym: "Electroencephalogram abnormalities" EXACT [] xref: SNOMEDCT_US:274521009 xref: UMLS:C0151611 is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0002354 name: Memory impairment alt_id: HP:0000747 alt_id: HP:0002081 def: "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." [https://orcid.org/0000-0002-0736-9199] comment: Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. synonym: "Forgetfulness" EXACT layperson [] synonym: "Memory impairment" EXACT layperson [] synonym: "Memory loss" EXACT layperson [] synonym: "Memory problems" EXACT layperson [] synonym: "Poor memory" EXACT layperson [] xref: SNOMEDCT_US:386807006 xref: SNOMEDCT_US:55533009 xref: UMLS:C0233794 xref: UMLS:C0542476 xref: UMLS:C0751295 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0002355 name: obsolete Difficulty walking is_obsolete: true replaced_by: HP:0001288 [Term] id: HP:0002356 name: Writer's cramp def: "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument." [https://orcid.org/0000-0002-0736-9199] synonym: "Writer's cramp" EXACT layperson [] xref: SNOMEDCT_US:52008007 xref: UMLS:C0154676 is_a: HP:0004373 ! Focal dystonia [Term] id: HP:0002357 name: obsolete Dysphasia is_obsolete: true replaced_by: HP:0002381 [Term] id: HP:0002359 name: Frequent falls synonym: "Frequent falls" EXACT layperson [] xref: UMLS:C0850703 is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0002360 name: Sleep abnormality def: "An abnormal pattern in the quality, quantity, or characteristics of sleep." [PMID:32809555] synonym: "Difficulty sleeping" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Sleep disturbance" EXACT [] synonym: "Sleep disturbances" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Sleep dysfunction" EXACT [] synonym: "Trouble sleeping" EXACT layperson [] xref: SNOMEDCT_US:53888004 xref: UMLS:C0037317 is_a: HP:0011446 ! Abnormality of mental function property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0002361 name: Psychomotor deterioration def: "Loss of previously present mental and motor abilities." [https://orcid.org/0000-0002-0736-9199] synonym: "Psychomotor degeneration" EXACT [] xref: UMLS:C1836842 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002362 name: Shuffling gait def: "A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground." [] synonym: "Shuffled walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:43005009 xref: UMLS:C0231688 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002363 name: Abnormal brainstem morphology def: "An anomaly of the brainstem." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of brainstem" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of brainstem morphology" EXACT [] synonym: "Abnormality of the brainstem" EXACT [] xref: UMLS:C1850601 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002365 name: Hypoplasia of the brainstem def: "Underdevelopment of the brainstem." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by magnetic resonance imaging. synonym: "Brainstem hypoplasia" EXACT [] synonym: "Hypoplastic brain stem" EXACT [] synonym: "Hypoplastic brainstem" EXACT [] synonym: "Small brainstem" EXACT layperson [] synonym: "Underdeveloped brainstem" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1842688 is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem [Term] id: HP:0002366 name: Abnormal lower motor neuron morphology alt_id: HP:0007276 def: "Any structural anomaly of the lower motor neuron." [https://orcid.org/0000-0002-0736-9199] comment: previous def: 'has part' some (quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal)) synonym: "Lower motor neuron disease" EXACT [] synonym: "Lower motor neuron manifestations" EXACT [] synonym: "Lower motor neuron signs" EXACT [] xref: UMLS:C1865412 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0002367 name: Visual hallucination def: "Visual perception in the absence of a visual stimulus." [] synonym: "Visual hallucinations" EXACT layperson [] xref: SNOMEDCT_US:64269007 xref: UMLS:C0233763 is_a: HP:0000738 ! Hallucinations property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0002370 name: Poor coordination synonym: "Poor coordination" EXACT layperson [] xref: UMLS:C0563243 is_a: HP:0002311 ! Incoordination [Term] id: HP:0002371 name: Loss of speech synonym: "Loss of speech" EXACT layperson [] xref: UMLS:C0542223 is_a: HP:0002167 ! Abnormal speech pattern [Term] id: HP:0002372 name: Normal interictal EEG def: "Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis." [] xref: UMLS:C1843146 is_a: HP:0025373 ! Interictal EEG abnormality [Term] id: HP:0002373 name: Febrile seizure (within the age range of 3 months to 6 years) alt_id: HP:0002175 alt_id: HP:0007102 def: "A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years." [https://orcid.org/0000-0002-0736-9199, PMID:10353950, PMID:19125841, PMID:30078767, PMID:6779259] comment: Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. synonym: "Febrile convulsion" EXACT [] synonym: "Febrile seizures" EXACT plural_form [] synonym: "Fever induced seizures" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Seizures, febrile, in early childhood" EXACT [] synonym: "Seizures, generalized, associated with fever" EXACT [] xref: SNOMEDCT_US:41497008 xref: UMLS:C0009952 is_a: HP:0032894 ! Seizure precipitated by febrile infection [Term] id: HP:0002374 name: Diminished movement synonym: "Diminished movement" EXACT layperson [] xref: UMLS:C4025710 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002375 name: Hypokinesia alt_id: HP:0002603 alt_id: HP:0006795 def: "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased muscle movement" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Decreased spontaneous movement" EXACT layperson [] synonym: "Decreased spontaneous movements" EXACT layperson [] xref: SNOMEDCT_US:255385008 xref: SNOMEDCT_US:43994002 xref: UMLS:C0086439 is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002376 name: Developmental regression alt_id: HP:0002471 alt_id: HP:0002489 alt_id: HP:0006797 alt_id: HP:0006828 alt_id: HP:0006854 alt_id: HP:0007037 alt_id: HP:0007242 alt_id: HP:0007247 def: "Loss of developmental skills, as manifested by loss of developmental milestones." [https://orcid.org/0000-0002-6410-0882] comment: Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. synonym: "Loss of acquired milestones" EXACT [] synonym: "Loss of developmental milestones" EXACT layperson [] synonym: "Loss of milestones" EXACT [] synonym: "Mental deterioration in childhood" EXACT layperson [] synonym: "Neurodevelopmental regression" EXACT [] synonym: "Psychomotor regression" EXACT [] synonym: "Psychomotor regression beginning in infancy" EXACT [] synonym: "Psychomotor regression in infants" EXACT [] synonym: "Psychomotor regression, progressive" EXACT [] xref: SNOMEDCT_US:609225004 xref: UMLS:C1836550 xref: UMLS:C1836830 xref: UMLS:C1850493 xref: UMLS:C1855009 xref: UMLS:C1855019 xref: UMLS:C1855996 xref: UMLS:C1857121 xref: UMLS:C1859678 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0002377 name: obsolete Paraganglioma-related cranial nerve palsy is_obsolete: true replaced_by: HP:0006824 [Term] id: HP:0002378 name: Hand tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting the hand." [] synonym: "Hand tremor" EXACT layperson [] synonym: "Tremor of hand" EXACT layperson [] synonym: "Tremor of hands" EXACT layperson [] synonym: "tremors in hands" EXACT layperson [] xref: UMLS:C0239842 is_a: HP:0030188 ! Tremor by anatomical site [Term] id: HP:0002380 name: Fasciculations alt_id: HP:0002468 alt_id: HP:0007092 def: "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be visible clinically and can be demonstrated by electromyography (EMG). synonym: "Fasciculation" EXACT [] synonym: "Muscle fasciculation" EXACT [] synonym: "Muscle twitch" EXACT layperson [https://orcid.org/0000-0001-6908-9849, https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm] xref: SNOMEDCT_US:82470000 xref: UMLS:C0015644 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002381 name: Aphasia alt_id: HP:0002357 def: "An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write." [PMID:27384070] comment: Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. The terms aphasia and dysphasia are usually considered to be synonymous, but the word dysphasia has been used inconsistently and it is recommended to no longer use the term dysphasia. synonym: "Difficulty finding words" EXACT layperson [] synonym: "Losing words" EXACT layperson [] synonym: "Loss of words" EXACT layperson [] xref: SNOMEDCT_US:87486003 xref: UMLS:C0003537 is_a: HP:0002167 ! Abnormal speech pattern [Term] id: HP:0002383 name: Infectious encephalitis def: "A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity." [PMID:24365426] synonym: "Brain inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:45170000 xref: UMLS:C0014038 is_a: HP:0011450 ! Unusual CNS infection [Term] id: HP:0002384 name: Focal impaired awareness seizure alt_id: HP:0002278 def: "Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure." [https://orcid.org/0000-0002-0736-9199, PMID:28276062, PMID:28276064, PMID:9738682] comment: Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure. synonym: "Complex focal seizures" EXACT [] synonym: "Complex partial seizure" EXACT [] synonym: "Complex partial seizures" EXACT [] synonym: "Dyscognitive seizures" EXACT [] synonym: "Focal dyscognitive seizure" EXACT [] synonym: "Focal impaired awareness seizures" EXACT plural_form [] synonym: "Focal seizure with impairment of awareness" EXACT [] synonym: "Focal seizure with loss of awareness" EXACT [] synonym: "Focal seizures with impairment of consciousness or awareness" EXACT plural_form [] synonym: "Localised dyscognitive seizure" EXACT [] synonym: "Localised seizure with impaired awareness" EXACT [] synonym: "Localised seizure with loss of awareness" EXACT [] synonym: "Localized dyscognitive seizure" EXACT [] synonym: "Localized seizure with impaired awareness" EXACT [] synonym: "Localized seizure with loss of awareness" EXACT [] synonym: "Partial dyscognitive seizure" EXACT [] synonym: "Partial seizure with impairment of awareness" EXACT [] synonym: "Partial seizure with loss of awareness" EXACT [] xref: SNOMEDCT_US:4103001 xref: UMLS:C0149958 xref: UMLS:C0270834 is_a: HP:0007359 ! Focal-onset seizure is_a: HP:0011146 ! Dialeptic seizure [Term] id: HP:0002385 name: Paraparesis def: "Weakness or partial paralysis in the lower limbs." [https://orcid.org/0000-0002-0736-9199] comment: Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. synonym: "Partial paralysis of legs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:1845001 xref: UMLS:C0221166 is_a: HP:0010551 ! Paraplegia/paraparesis [Term] id: HP:0002389 name: Cavum septum pellucidum alt_id: HP:0006884 alt_id: HP:0007091 alt_id: HP:0007336 def: "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [https://orcid.org/0000-0002-0736-9199] synonym: "Large cavum septi pellucidi" EXACT [] synonym: "Persistent cavum septum pellucidum" EXACT [] synonym: "Widened cavum septum pellucidum" EXACT [] xref: UMLS:C1840380 is_a: HP:0007375 ! Abnormal septum pellucidum morphology [Term] id: HP:0002390 name: Spinal arteriovenous malformation xref: SNOMEDCT_US:261482004 xref: UMLS:C0348023 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002392 name: EEG with polyspike wave complexes def: "The presence of complexes of repetitive spikes and waves in EEG." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG: spike and multispike waves, 3-4 hz" EXACT [] xref: UMLS:C4021757 is_a: HP:0010850 ! EEG with spike-wave complexes [Term] id: HP:0002395 name: Lower limb hyperreflexia alt_id: HP:0007245 alt_id: HP:0007288 def: "Increased intensity of the a reflex in the leg." [] synonym: "Brisk lower extremity reflexes" EXACT [] synonym: "Hyperreflexia in lower limbs" EXACT [] synonym: "Hyperreflexia in the lower limbs" EXACT [] synonym: "Increased deep tendon reflexes in the lower limbs" EXACT [] synonym: "Leg hyperreflexia" EXACT [] synonym: "Overactive lower leg reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1836696 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0002396 name: Cogwheel rigidity def: "A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched)." [https://orcid.org/0000-0002-0736-9199] comment: Cogwheel rigidity is a typical manifestation of Parkinson disease. xref: SNOMEDCT_US:55630000 xref: UMLS:C0151564 is_a: HP:0002063 ! Rigidity [Term] id: HP:0002398 name: Degeneration of anterior horn cells alt_id: HP:0007136 alt_id: HP:0008312 synonym: "Anterior horn cell loss" EXACT [] synonym: "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord" EXACT [] synonym: "Degeneration of spinal cord anterior horn cells" EXACT [] synonym: "Loss of spinal cord anterior horn cells" EXACT [] synonym: "Progressive loss of anterior horn cells" EXACT [] synonym: "Spinal cord anterior horn cell degeneration" EXACT [] xref: UMLS:C1843505 is_a: HP:0006802 ! Abnormal anterior horn cell morphology is_a: HP:0007373 ! Motor neuron atrophy [Term] id: HP:0002401 name: Stroke-like episode def: "No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours." [PMID:22715346, PMID:23907585] comment: Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent. synonym: "Stroke-like episodes" EXACT plural_form [] synonym: "Strokelike episodes" EXACT plural_form [] xref: UMLS:C1857287 is_a: HP:0001297 ! Stroke [Term] id: HP:0002403 name: Positive Romberg sign def: "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:298310004 xref: UMLS:C0240914 is_a: HP:0010831 ! Impaired proprioception [Term] id: HP:0002404 name: Thickened superior cerebellar peduncle def: "Increased width of the superior cerebellar peduncle." [https://orcid.org/0000-0002-0736-9199] synonym: "Thick cerebellar peduncles" EXACT [] xref: UMLS:C4021756 is_a: HP:0011932 ! Abnormal superior cerebellar peduncle morphology [Term] id: HP:0002406 name: Limb dysmetria def: "A type of dysmetria involving the limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Uncoordinated limb movement" NARROW layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1854489 xref: UMLS:C4280577 is_a: HP:0001310 ! Dysmetria [Term] id: HP:0002408 name: Cerebral arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain." [] synonym: "Cerebral AV malformation" EXACT abbreviation [] xref: Fyler:2201 xref: SNOMEDCT_US:234142008 xref: UMLS:C0917804 is_a: HP:0100026 ! Arteriovenous malformation is_a: HP:0100659 ! Abnormal cerebral vascular morphology [Term] id: HP:0002410 name: Aqueductal stenosis def: "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Aqueduct of Sylvius stenosis" EXACT [] synonym: "Aqueduct stenosis" EXACT [] synonym: "Narrowing of aqueduct of Sylvius" EXACT [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C2936786 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology [Term] id: HP:0002411 name: Myokymia def: "Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle." [PMID:21501741] comment: Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity. xref: SNOMEDCT_US:27678003 xref: UMLS:C0684219 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002414 name: Spina bifida def: "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." [https://orcid.org/0000-0002-0736-9199] synonym: "Split spine" BROAD layperson [http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel, https://orcid.org/0000-0001-5208-3432] xref: Fyler:4157 xref: SNOMEDCT_US:67531005 xref: UMLS:C0080178 is_a: HP:0010301 ! Spinal dysraphism [Term] id: HP:0002415 name: Leukodystrophy alt_id: HP:0006926 alt_id: HP:0007079 def: "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies." [https://orcid.org/0000-0002-0736-9199, PMID:30620693] comment: The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. synonym: "Degeneration of white matter of brain" EXACT [https://en.wikipedia.org/wiki/leukodystrophy, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:192781003 xref: UMLS:C0023520 is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0002416 name: Subependymal cysts def: "Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life." [https://orcid.org/0000-0002-0736-9199, PMID:12423490] comment: In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular. synonym: "Subependymal germinolytic cyst" EXACT [] synonym: "Subependymal pseudocyst" EXACT [] xref: UMLS:C1833431 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0002418 name: Abnormal midbrain morphology def: "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of midbrain" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of midbrain morphology" EXACT [] synonym: "Abnormality of the mesencephalon" EXACT [] synonym: "Abnormality of the midbrain" EXACT layperson [] xref: UMLS:C4021755 is_a: HP:0012443 ! Abnormal brain morphology [Term] id: HP:0002419 name: Molar tooth sign on MRI def: "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth." [https://orcid.org/0000-0002-0736-9199, PMID:14657304] comment: Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. synonym: "Molar tooth sign" EXACT [] synonym: "Molar tooth sign on brain imaging" EXACT [] synonym: "Molar tooth sign on imaging" EXACT [] xref: UMLS:C1865060 is_a: HP:0002418 ! Abnormal midbrain morphology [Term] id: HP:0002421 name: Poor head control def: "Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months." [https://orcid.org/0000-0002-0736-9199, PMID:33620859] synonym: "Delay in head control" EXACT [] synonym: "Delay in head righting" EXACT [] synonym: "Infant head lag" EXACT [] synonym: "Poor head control" EXACT layperson [] xref: UMLS:C1836038 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002423 name: Long-tract sign def: "Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. These include spasticity, hyperreflexia, and abnormal reflexes such as Babinski or Hoffman's sign. If possible, it is preferable to use the precise HPO terms for these abnormalities." [] synonym: "Long tract signs" EXACT plural_form [] synonym: "Long-tract signs" EXACT plural_form [] xref: UMLS:C1865903 is_a: HP:0034482 ! Abnormal spinal cord physiology [Term] id: HP:0002425 name: Anarthria def: "A defect in the motor ability that enables speech." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of articulate speech" EXACT layperson [http://dictionary.reference.com/browse/anarthria, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:48257004 xref: UMLS:C0234517 is_a: HP:0002167 ! Abnormal speech pattern [Term] id: HP:0002427 name: Expressive aphasia def: "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it." [https://orcid.org/0000-0002-0736-9199] synonym: "Broca's aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, https://orcid.org/0000-0001-5208-3432] synonym: "Loss of expressive speech" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Motor aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, https://orcid.org/0000-0001-5208-3432] synonym: "Non-fluent aphasia" EXACT layperson [] xref: SNOMEDCT_US:229654003 xref: SNOMEDCT_US:229665008 xref: SNOMEDCT_US:328681008 xref: UMLS:C0003550 xref: UMLS:C0917814 is_a: HP:0002381 ! Aphasia [Term] id: HP:0002435 name: Meningocele def: "Protrusion of the meninges through a defect of the skull or vertebral column." [https://orcid.org/0009-0006-4530-3154, PMID:32965845] xref: SNOMEDCT_US:171131006 xref: UMLS:C0025299 is_a: HP:0010651 ! Abnormal meningeal morphology is_a: HP:0034238 ! Closed neural tube defect [Term] id: HP:0002436 name: Occipital meningocele def: "A herniation of meninges through a congenital bone defect in the skull in the occipital region." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:445468002 xref: UMLS:C1848652 is_a: HP:0002435 ! Meningocele [Term] id: HP:0002438 name: Cerebellar malformation xref: UMLS:C4025708 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0002439 name: Frontolimbic dementia xref: UMLS:C1836151 is_a: HP:0000726 ! Dementia [Term] id: HP:0002442 name: Dyscalculia def: "A specific learning disability involving mathematics and arithmetic." [https://orcid.org/0000-0002-0736-9199] synonym: "Acalculia" EXACT [] synonym: "Difficulty making arithmetical calculations" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:47916000 xref: UMLS:C1411876 xref: UMLS:C4280576 is_a: HP:0001328 ! Specific learning disability [Term] id: HP:0002444 name: Hypothalamic hamartoma def: "The presence of a hamartoma of the hypothalamus." [https://orcid.org/0000-0002-0736-9199] comment: Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to gray matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. xref: SNOMEDCT_US:237714006 xref: UMLS:C0342418 is_a: HP:0009731 ! Cerebral hamartoma is_a: HP:0012286 ! Abnormal hypothalamus morphology [Term] id: HP:0002445 name: Tetraplegia alt_id: HP:0010552 def: "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Paralysis of all four limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Quadriplegia" EXACT [] xref: SNOMEDCT_US:11538006 xref: UMLS:C0034372 is_a: HP:0030182 ! Tetraplegia/tetraparesis [Term] id: HP:0002446 name: Astrocytosis def: "Proliferation of astrocytes in the area of a lesion of the central nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Increase in astrocyte number" BROAD [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:81415000 xref: UMLS:C3887640 is_a: HP:0100707 ! Abnormal astrocyte morphology [Term] id: HP:0002448 name: Progressive encephalopathy synonym: "Progressive brain disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1838578 xref: UMLS:C4280575 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002450 name: Abnormal motor neuron morphology def: "Any structural anomaly that affects the motor neuron." [] synonym: "Abnormal shape of motor neuron" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025707 is_a: HP:0012757 ! Abnormal neuron morphology [Term] id: HP:0002451 name: Limb dystonia def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0751093 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002453 name: Abnormal globus pallidus morphology alt_id: HP:0007040 def: "An abnormality of the globus pallidus." [https://orcid.org/0000-0002-0736-9199] comment: The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. xref: UMLS:C4025706 is_a: HP:0002134 ! Abnormal basal ganglia morphology [Term] id: HP:0002454 name: Eye of the tiger anomaly of globus pallidus alt_id: HP:0012677 def: "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus." [https://orcid.org/0000-0002-0736-9199, PMID:11110959, PMID:19881070, PMID:29371252] comment: This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus. xref: UMLS:C4025705 is_a: HP:0002453 ! Abnormal globus pallidus morphology is_a: HP:0012675 ! Iron accumulation in brain [Term] id: HP:0002457 name: Abnormal head movements synonym: "Abnormal head movements" EXACT layperson [] xref: SNOMEDCT_US:271799000 xref: UMLS:C0476217 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002459 name: obsolete Dysautonomia is_obsolete: true replaced_by: HP:0012332 [Term] id: HP:0002460 name: Distal muscle weakness alt_id: HP:0002598 alt_id: HP:0002935 alt_id: HP:0003497 alt_id: HP:0006940 alt_id: HP:0009008 def: "Reduced strength of the musculature of the distal extremities." [https://orcid.org/0000-0002-0736-9199] comment: Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. synonym: "Distal limb muscle weakness" EXACT [] synonym: "Distal limb muscle weakness due to peripheral neuropathy" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Distal limb weakness" EXACT [] synonym: "Distal muscular weakness" EXACT [] synonym: "Distal paresis" EXACT [] synonym: "Muscle weakness, distal" EXACT [] synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT [] synonym: "Weakness of distal muscles" EXACT [] synonym: "Weakness of outermost muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:249942005 xref: UMLS:C0427065 xref: UMLS:C1864696 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002461 name: Cerebellar dentate nucleus calcification def: "Pathological deposition of calcium salts in the dentate nucleus of the cerebellum." [] xref: UMLS:C1859273 is_a: HP:0007352 ! Cerebellar calcifications is_a: HP:0100321 ! Abnormal dentate nucleus morphology [Term] id: HP:0002463 name: Language impairment def: "Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations." [] synonym: "Language disorder" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:62305002 xref: UMLS:C0023015 is_a: HP:0034434 ! Abnormal communication property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0002464 name: Spastic dysarthria def: "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality." [https://orcid.org/0000-0002-0736-9199] synonym: "Rigid dysarthria" EXACT [http://medical-dictionary.thefreedictionary.com/spastic+dysarthria, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:229684006 xref: UMLS:C0454596 is_a: HP:0001257 ! Spasticity is_a: HP:0001260 ! Dysarthria [Term] id: HP:0002465 name: Poor speech synonym: "Difficulty speaking" RELATED layperson [] synonym: "Poor speech" EXACT layperson [] synonym: "Problems speaking" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1848207 xref: UMLS:C4280574 is_a: HP:0002167 ! Abnormal speech pattern [Term] id: HP:0002470 name: Nonprogressive cerebellar ataxia xref: UMLS:C1845029 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002472 name: Small cerebral cortex alt_id: HP:0006791 alt_id: HP:0007151 def: "Reduced size of the cerebral cortex." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased volume of cerebral cortex" EXACT [] xref: UMLS:C1837503 is_a: HP:0002538 ! Abnormal cerebral cortex morphology [Term] id: HP:0002474 name: Expressive language delay alt_id: HP:0007192 def: "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-0736-9199] synonym: "Communication delay" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Deficit in expressive language" EXACT [] xref: SNOMEDCT_US:229734008 xref: UMLS:C0454641 xref: UMLS:C1847610 xref: UMLS:C4280573 is_a: HP:0000750 ! Delayed speech and language development [Term] id: HP:0002475 name: Myelomeningocele def: "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column." [https://orcid.org/0000-0002-0736-9199] comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. synonym: "Meningomyelocele" EXACT [] synonym: "Spina bifida cystica" EXACT [https://orcid.org/0009-0006-4530-3154] xref: Fyler:4309 xref: SNOMEDCT_US:203994003 xref: SNOMEDCT_US:414667000 xref: UMLS:C0025312 is_a: HP:0034237 ! Open neural tube defect [Term] id: HP:0002476 name: Primitive reflex def: "The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [PMID:12700289] synonym: "Archaic reflex" EXACT [] synonym: "Primitive reflexes" EXACT [] xref: UMLS:C1838319 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0002478 name: Progressive spastic quadriplegia synonym: "Progressive spastic quadriparesis" EXACT [] xref: UMLS:C1859736 is_a: HP:0002191 ! Progressive spasticity [Term] id: HP:0002480 name: Hepatic encephalopathy def: "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:13920009 xref: SNOMEDCT_US:449902003 xref: UMLS:C0019151 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002483 name: Bulbar signs xref: UMLS:C1856507 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0002486 name: Myotonia alt_id: HP:0003632 alt_id: HP:0003754 alt_id: HP:0003792 def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." [https://orcid.org/0000-0002-0736-9199] comment: Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. synonym: "Delayed relaxation of muscle fibers after contraction" EXACT [] synonym: "Delayed relaxation of muscle fibres after contraction" EXACT uk_spelling [] xref: SNOMEDCT_US:3434004 xref: UMLS:C0027125 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0002487 name: Hyperkinetic movements def: "Motor hyperactivity with excessive movement of muscles of the body as a whole." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperactive movements" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperkinesia" EXACT [] synonym: "Hyperkinesis" EXACT [] xref: SNOMEDCT_US:44548000 xref: SNOMEDCT_US:45352006 xref: UMLS:C0037763 xref: UMLS:C0424295 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002488 name: Acute leukemia def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300] synonym: "Acute blood cancer" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Acute leukaemia" EXACT uk_spelling [] synonym: "Acute leukemias" EXACT [] xref: SNOMEDCT_US:24072005 xref: SNOMEDCT_US:91855006 xref: UMLS:C0085669 xref: UMLS:C4280572 is_a: HP:0001909 ! Leukemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0002490 name: Increased CSF lactate def: "Increased concentration of lactate in the cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperlactatorachia" EXACT [] synonym: "Increased cerebrospinal fluid lactate" EXACT [] synonym: "Increased CSF lactic acid" EXACT [] xref: UMLS:C1167918 is_a: HP:0030085 ! Abnormal CSF lactate concentration [Term] id: HP:0002491 name: Spasticity of facial muscles alt_id: HP:0000313 def: "Spasticity of one or more muscles innervated by the facial nerve." [] comment: Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort. synonym: "Increased stiffness of facial muscles" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased tone of facial muscles" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spasticity of the facial muscles" EXACT [] xref: UMLS:C1853404 xref: UMLS:C4280570 xref: UMLS:C4280571 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001257 ! Spasticity [Term] id: HP:0002492 name: Abnormal corticospinal tract morphology alt_id: HP:0006912 def: "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the corticospinal tract" RELATED [] synonym: "Involvement of the corticospinal pathways" RELATED [] synonym: "Morphological abnormality of the corticospinal tract" EXACT [] xref: UMLS:C4020852 xref: UMLS:C4025704 is_a: HP:0002062 ! Abnormal pyramidal tract morphology [Term] id: HP:0002493 name: Upper motor neuron dysfunction def: "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs." [https://orcid.org/0000-0002-0736-9199] comment: A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). synonym: "Corticospinal tract dysfunction" EXACT [] synonym: "Pyramidal tract dysfunction" EXACT [] xref: UMLS:C1504405 xref: UMLS:C1839042 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002494 name: Abnormal rapid eye movement sleep def: "Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements." [PMID:31910377, PMID:32179430] synonym: "Abnormal REM sleep" EXACT [] xref: SNOMEDCT_US:69020003 xref: UMLS:C0392188 is_a: HP:0002360 ! Sleep abnormality property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0002495 name: Impaired vibratory sensation alt_id: HP:0006836 alt_id: HP:0007116 def: "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [https://orcid.org/0000-0002-0736-9199] comment: Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. synonym: "Decreased vibration sense" EXACT layperson [] synonym: "Decreased vibratory sense" EXACT layperson [] synonym: "Diminished vibratory sense" EXACT layperson [] synonym: "Hypopallesthesia" EXACT [] synonym: "Impaired vibratory sensation" EXACT layperson [] synonym: "Impaired vibratory sense" EXACT layperson [] xref: SNOMEDCT_US:130980003 xref: UMLS:C1295585 is_a: HP:0010831 ! Impaired proprioception [Term] id: HP:0002497 name: Spastic ataxia xref: UMLS:C1849156 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002500 name: Abnormal cerebral white matter morphology alt_id: HP:0200100 def: "An abnormality of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signaling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. synonym: "Abnormality of subcortical white matter" EXACT [] synonym: "Abnormality of the cerebral white matter" EXACT [] synonym: "Cerebral white matter abnormalities" EXACT [] synonym: "Cortical white matter abnormalities seen on MRI" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Leukoaraiosis" EXACT [PMID:3800716] synonym: "White matter abnormalities" EXACT [] synonym: "White matter alterations" EXACT [] xref: UMLS:C0948163 xref: UMLS:C4020851 is_a: HP:0010993 ! Abnormal cerebral subcortex morphology [Term] id: HP:0002501 name: Spasticity of pharyngeal muscles xref: UMLS:C1853398 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002503 name: Spinocerebellar tract degeneration synonym: "Degeneration of the spinocerebellar tracts" EXACT [] synonym: "Spinocerebellar degeneration" EXACT [] xref: UMLS:C1866751 is_a: HP:0003133 ! Abnormality of the spinocerebellar tracts [Term] id: HP:0002504 name: Calcification of the small brain vessels def: "Deposition of calcium salts within small blood vessels of the brain." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be made upon neuropathologic examination. xref: UMLS:C4025703 is_a: HP:0009145 ! Abnormal cerebral artery morphology is_a: HP:0031306 ! Intracranial arterial calcification [Term] id: HP:0002505 name: Loss of ambulation alt_id: HP:0006957 def: "Inability to walk in a person who previous had the ability to walk." [] synonym: "Loss of ability to walk" EXACT layperson [] xref: UMLS:C1836843 is_a: HP:0002540 ! Inability to walk [Term] id: HP:0002506 name: Diffuse cerebral atrophy alt_id: HP:0006954 def: "Diffuse unlocalised atrophy affecting the cerebrum." [https://orcid.org/0009-0006-4530-3154] synonym: "Cerebral atrophy, diffuse" EXACT [] xref: UMLS:C0598275 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002507 name: Semilobar holoprosencephaly def: "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [HPO_CONTRIBUTOR:GC_HPE] xref: SNOMEDCT_US:253138008 xref: UMLS:C0751617 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0002508 name: Brainstem dysplasia alt_id: HP:0006991 def: "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Brainstem hypoplasia/dysplasia" EXACT [] synonym: "Malformation of brainstem structures" EXACT [] xref: UMLS:C1855677 is_a: HP:0002363 ! Abnormal brainstem morphology [Term] id: HP:0002509 name: Limb hypertonia synonym: "Appendicular hypertonia" EXACT [] synonym: "Increased muscle tone of arm or leg" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1838391 is_a: HP:0001276 ! Hypertonia is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0002510 name: Spastic tetraplegia alt_id: HP:0001280 alt_id: HP:0006983 def: "Spastic paralysis affecting all four limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Spastic quadriplegia" EXACT [] xref: SNOMEDCT_US:192965001 xref: UMLS:C0426970 is_a: HP:0034353 ! Appendicular spasticity is_a: HP:0100021 ! Cerebral palsy [Term] id: HP:0002511 name: Alzheimer disease alt_id: HP:0006878 alt_id: HP:0007213 def: "A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads." [https://orcid.org/0000-0002-0736-9199] comment: Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features. synonym: "Alzheimer disease" EXACT layperson [] synonym: "Late-onset form of familial Alzheimer disease" EXACT layperson [] xref: DOID:10652 xref: MONDO:0004975 xref: SNOMEDCT_US:230267005 xref: SNOMEDCT_US:26929004 xref: UMLS:C0002395 xref: UMLS:C1863051 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002512 name: Brain stem compression xref: SNOMEDCT_US:25816005 xref: SNOMEDCT_US:5582005 xref: UMLS:C0270680 is_a: HP:0002363 ! Abnormal brainstem morphology [Term] id: HP:0002514 name: Cerebral calcification alt_id: HP:0002502 alt_id: HP:0005806 alt_id: HP:0006848 def: "The presence of calcium deposition within the cerebrum." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. The cerebrum is the largest of the five major components of the brain, which comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus. synonym: "Abnormal deposits of calcium in the brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:17944005 xref: UMLS:C0270685 is_a: HP:0002060 ! Abnormal cerebral morphology is_a: HP:0430048 ! Intracranial calcification [Term] id: HP:0002515 name: Waddling gait def: "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck." [PMID:27770207] synonym: "Waddling gait" EXACT layperson [] synonym: "Waddling walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:271706000 xref: UMLS:C0231712 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002516 name: Increased intracranial pressure def: "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199] comment: Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain. synonym: "Intracranial hypertension" EXACT [] synonym: "Intracranial pressure elevation" EXACT [] synonym: "Pseudotumor cerebri" RELATED [] synonym: "Rise in pressure inside skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:271719001 xref: UMLS:C0151740 is_a: HP:0012640 ! Abnormality of intracranial pressure [Term] id: HP:0002518 name: Abnormal periventricular white matter morphology def: "A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles." [] synonym: "Abnormality of the periventricular white matter" EXACT [] synonym: "Periventricular white matter abnormalities" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2673431 is_a: HP:0002352 ! Leukoencephalopathy is_a: HP:0002500 ! Abnormal cerebral white matter morphology [Term] id: HP:0002519 name: Hypnagogic hallucination def: "Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep." [PMID:27872259] comment: Hypnagogic hallucinations are typically reported as visual, auditory, and tactile sensations. Visual phenomena often consist of kaleidoscopically changing patterns, shapes, and flashes of light. Lifelike and highly detailed images of animals, people, faces, and scenes are also common, displaying a wide range of vivid colors. Auditory experiences, although less frequent, may include voices, as well as sounds like a ringing phone, doorbell, or music. These auditory impressions may involve words, names, conversations, or environmental and animal sounds. Additionally, hypnagogic hallucinations can manifest as somatic experiences, which include bodily distortions, feelings of weightlessness, sensations of flying or falling, and an eerie sense of a presence in the room. synonym: "Hallucinations while falling asleep" EXACT [] xref: SNOMEDCT_US:44780000 xref: UMLS:C0233773 is_a: HP:0000738 ! Hallucinations is_a: HP:5200296 ! Abnormal hypnagogia property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0002521 name: Hypsarrhythmia def: "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypsarrhythmia by EEG" EXACT [] xref: SNOMEDCT_US:28055006 xref: UMLS:C0684276 is_a: HP:0011198 ! EEG with generalized epileptiform discharges [Term] id: HP:0002522 name: Areflexia of lower limbs def: "Inability to elicit tendon reflexes in the lower limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent lower limb tendon reflexes" EXACT [] synonym: "Areflexia in lower limbs" EXACT [] synonym: "Areflexia of the lower limbs" EXACT [] synonym: "Areflexia, lower limbs" EXACT [] xref: UMLS:C1856694 is_a: HP:0001284 ! Areflexia is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002524 name: Cataplexy alt_id: HP:0002428 alt_id: HP:0002525 def: "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions." [https://orcid.org/0000-0002-0736-9199, PMID:21931493, PMID:22249574] comment: Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. xref: SNOMEDCT_US:46263000 xref: UMLS:C0007384 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002526 name: Deficit in nonword repetition def: "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025702 is_a: HP:0002167 ! Abnormal speech pattern [Term] id: HP:0002527 name: Falls synonym: "Falls" EXACT layperson [] xref: SNOMEDCT_US:161898004 xref: SNOMEDCT_US:1912002 xref: UMLS:C0085639 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002528 name: Granulovacuolar degeneration def: "Electron-dense granules within double membrane-bound cytoplasmic vacuoles." [PMID:22073234] comment: Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. xref: SNOMEDCT_US:90506004 xref: UMLS:C0333454 is_a: HP:0002060 ! Abnormal cerebral morphology is_a: HP:0002180 ! Neurodegeneration [Term] id: HP:0002529 name: Neuronal loss in central nervous system alt_id: HP:0002400 comment: This finding can be demonstrated by neuropathology. synonym: "Loss of brain cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Neuronal loss" EXACT [] synonym: "Neuronal loss in CNS" EXACT abbreviation [] xref: UMLS:C1850496 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002530 name: Axial dystonia def: "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Truncal dystonia" EXACT [] xref: UMLS:C1836149 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002533 name: Abnormal posturing def: "Involuntary flexion or extension of the arms and legs." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:43029002 xref: UMLS:C0231471 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002536 name: Abnormal cortical gyration alt_id: HP:0006900 def: "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal gyration" EXACT [] synonym: "Cerebral gyral anomalies" EXACT [] synonym: "Gyral disorganisation" BROAD uk_spelling [] synonym: "Gyral disorganization" BROAD [] xref: UMLS:C1856019 is_a: HP:0002269 ! Abnormality of neuronal migration is_a: HP:0002538 ! Abnormal cerebral cortex morphology [Term] id: HP:0002538 name: Abnormal cerebral cortex morphology def: "Any structural abnormality of the cerebral cortex." [https://orcid.org/0000-0002-0736-9199, PMID:31373394] comment: The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement. synonym: "Abnormality of the cerebral cortex" EXACT [] xref: UMLS:C4025701 is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0002539 name: Cortical dysplasia alt_id: HP:0007139 def: "The presence of developmental dysplasia of the cerebral cortex." [https://orcid.org/0000-0002-0736-9199] synonym: "Neocortical dysplasia" EXACT [] xref: SNOMEDCT_US:253153000 xref: UMLS:C0431380 is_a: HP:0002538 ! Abnormal cerebral cortex morphology [Term] id: HP:0002540 name: Inability to walk def: "Incapability to ambulate." [https://orcid.org/0000-0002-0736-9199] synonym: "Inability to walk" EXACT layperson [] synonym: "Non-ambulatory" EXACT [] xref: SNOMEDCT_US:282145008 xref: UMLS:C0560046 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002542 name: Olivopontocerebellar atrophy alt_id: HP:0005683 def: "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus." [https://orcid.org/0000-0002-0736-9199] synonym: "Olivopontocerebellar degeneration" EXACT [] xref: SNOMEDCT_US:67761004 xref: UMLS:C0028968 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0002544 name: Retrocollis def: "A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture." [https://orcid.org/0000-0002-0736-9199, PMID:17917462] comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back. xref: UMLS:C3887667 is_a: HP:0000473 ! Torticollis [Term] id: HP:0002545 name: Patchy demyelination of subcortical white matter def: "Patchy loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857638 is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0002546 name: Incomprehensible speech synonym: "Incomprehensible speech" EXACT layperson [] xref: UMLS:C1838027 is_a: HP:0002167 ! Abnormal speech pattern [Term] id: HP:0002548 name: Parkinsonism with favorable response to dopaminergic medication def: "Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication." [] synonym: "Favorable response to levodopa" RELATED [] synonym: "Favourable response to levodopa" RELATED uk_spelling [] synonym: "Parkinsonism with favourable response to dopaminergic medication" EXACT uk_spelling [] xref: UMLS:C1846868 is_a: HP:0001300 ! Parkinsonism [Term] id: HP:0002549 name: Deficit in phonologic short-term memory def: "Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory" [PMID:19646677] synonym: "Deficit in non-word repetition" EXACT [] synonym: "Impaired non-word repetition" EXACT [] xref: UMLS:C1847609 is_a: HP:0033687 ! Short term memory impairment [Term] id: HP:0002550 name: Absent facial hair def: "Absence of facial hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent facial hair" EXACT layperson [] xref: UMLS:C1848192 is_a: HP:0002298 ! Absent hair [Term] id: HP:0002552 name: Trichodysplasia alt_id: HP:0004515 def: "Developmental dysplasia of the hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised trichodysplasia" RELATED uk_spelling [] synonym: "Generalized trichodysplasia" RELATED [] xref: UMLS:C4020850 xref: UMLS:C4025700 is_a: HP:0001595 ! Abnormal hair morphology [Term] id: HP:0002553 name: Highly arched eyebrow alt_id: HP:0001584 alt_id: HP:0004533 alt_id: HP:0007681 alt_id: HP:0007804 alt_id: HP:0008505 def: "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [PMID:19125427] comment: Most eyebrows have some arch with downturning medially and laterally. subset: hposlim_core synonym: "Arched eyebrows" EXACT layperson [] synonym: "Bowed and upward slanting eyebrows" RELATED layperson [] synonym: "Broad, arched eyebrows" EXACT layperson [] synonym: "High arched eyebrows" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "High, rounded eyebrows" EXACT layperson [] synonym: "High-arched eyebrows" EXACT layperson [] synonym: "Highly arched eyebrow" EXACT layperson [] synonym: "Thick, flared eyebrows" EXACT layperson [] xref: UMLS:C1868571 xref: UMLS:C4020849 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0002555 name: Absent pubic hair alt_id: HP:0004537 alt_id: HP:0004556 def: "Absence of pubic hair." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent pubic hair" EXACT layperson [] xref: UMLS:C1859391 is_a: HP:0002298 ! Absent hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002557 name: Hypoplastic nipples alt_id: HP:0002560 alt_id: HP:0003188 alt_id: HP:0006652 def: "Underdevelopment of the nipple." [https://orcid.org/0000-0002-0736-9199] synonym: "Nipple hypoplasia" EXACT [] synonym: "Small nipples" EXACT layperson [] xref: SNOMEDCT_US:268290005 xref: UMLS:C0432355 is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002558 name: Supernumerary nipple alt_id: HP:0002559 def: "Presence of more than two nipples." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "accessory mamilla" EXACT [] synonym: "accessory mamillas" RELATED [] synonym: "Accessory nipple" EXACT layperson [] synonym: "Accessory nipples" RELATED layperson [] synonym: "Increased nipple number" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Supernumerary nipples" RELATED [] xref: Fyler:4234 xref: SNOMEDCT_US:50956007 xref: UMLS:C0266011 is_a: HP:0004404 ! Abnormal nipple morphology [Term] id: HP:0002561 name: Absent nipple def: "Congenital failure to develop, and absence of, the nipple." [] comment: This finding can be unilateral or bilateral. synonym: "Absent nipple" EXACT layperson [] synonym: "Absent nipples" EXACT layperson [] synonym: "Athelia" EXACT [] xref: SNOMEDCT_US:248820000 xref: UMLS:C0425795 is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002562 name: Low-set nipples def: "Placement of the nipples at a lower than normal location." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Low-set nipples" EXACT layperson [] xref: UMLS:C1836933 is_a: HP:0004404 ! Abnormal nipple morphology [Term] id: HP:0002563 name: Constrictive pericarditis def: "Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:85598007 xref: UMLS:C0031048 is_a: HP:0001701 ! Pericarditis [Term] id: HP:0002564 name: obsolete Malformation of the heart and great vessels is_obsolete: true replaced_by: HP:0030680 [Term] id: HP:0002566 name: Intestinal malrotation alt_id: HP:0002026 def: "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [https://orcid.org/0000-0002-0736-9199, PMID:12438031] subset: hposlim_core synonym: "Gut malrotation" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Malrotation" EXACT [] xref: MEDDRA:10064024 "Intestinal malrotation" xref: SNOMEDCT_US:253789002 xref: SNOMEDCT_US:29980002 xref: SNOMEDCT_US:48641006 xref: UMLS:C0221210 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002570 name: Steatorrhea def: "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats." [https://orcid.org/0000-0002-0736-9199] synonym: "Fat in faeces" EXACT uk_spelling [] synonym: "Fat in feces" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Fatty stool" EXACT [] synonym: "Greasy stools" EXACT layperson [] xref: SNOMEDCT_US:27868004 xref: SNOMEDCT_US:66187002 xref: UMLS:C0038238 is_a: HP:0002630 ! Fat malabsorption [Term] id: HP:0002571 name: Achalasia def: "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus." [https://orcid.org/0000-0002-0736-9199] comment: Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. subset: hposlim_core synonym: "Achalasia of the esophagus" EXACT [] synonym: "Achalasia of the oesophagus" EXACT uk_spelling [] xref: MEDDRA:10030136 "Oesophageal achalasia" xref: SNOMEDCT_US:45564002 xref: UMLS:C0014848 is_a: HP:0031857 ! Ineffective esophageal peristalsis [Term] id: HP:0002572 name: Episodic vomiting def: "Paroxysmal, recurrent episodes of vomiting." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic vomiting" EXACT layperson [] synonym: "Frequent vomiting" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1838993 xref: UMLS:C1857202 is_a: HP:0002013 ! Vomiting [Term] id: HP:0002573 name: Hematochezia alt_id: HP:0002255 alt_id: HP:0002609 def: "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus." [https://orcid.org/0000-0002-6410-0882] comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. synonym: "Rectal bleeding" EXACT layperson [] synonym: "Recurrent rectal bleeding" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:236068001 xref: SNOMEDCT_US:405729008 xref: UMLS:C0018932 is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0025085 ! Bloody diarrhea [Term] id: HP:0002574 name: Episodic abdominal pain def: "An intermittent form of abdominal pain." [https://orcid.org/0000-0002-0736-9199] synonym: "Intermittent abdominal pain" RELATED layperson [] xref: UMLS:C0262527 xref: UMLS:C3808022 is_a: HP:0002027 ! Abdominal pain is_a: HP:0032148 ! Episodic pain [Term] id: HP:0002575 name: Tracheoesophageal fistula def: "An abnormal connection (fistula) between the esophagus and the trachea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal connection between trachea and esophagus" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Abnormal connection between trachea and oesophagus" BROAD uk_spelling [] xref: Fyler:4202 xref: MEDDRA:10044310 "Tracheo-oesophageal fistula" xref: SNOMEDCT_US:95435007 xref: UMLS:C0040588 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0002778 ! Abnormal tracheal morphology [Term] id: HP:0002576 name: Intussusception def: "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine." [https://orcid.org/0000-0002-0736-9199] comment: Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel. subset: hposlim_core xref: MEDDRA:10022863 "Intussusception" xref: SNOMEDCT_US:35327006 xref: SNOMEDCT_US:49723003 xref: UMLS:C0021933 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002577 name: Abnormal stomach morphology def: "An abnormality of the stomach." [https://orcid.org/0000-0002-0736-9199] comment: The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. synonym: "Abnormality of the stomach" EXACT [] xref: UMLS:C4025699 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology [Term] id: HP:0002578 name: Gastroparesis def: "Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Delayed gastric emptying" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:196753007 xref: SNOMEDCT_US:235675006 xref: UMLS:C0152020 is_a: HP:0011804 ! Abnormal muscle physiology is_a: HP:0025032 ! Abnormality of digestive system physiology [Term] id: HP:0002579 name: Gastrointestinal dysmotility def: "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "GI dysmotility" EXACT abbreviation [] xref: UMLS:C1836923 is_a: HP:0030895 ! Abnormal gastrointestinal motility [Term] id: HP:0002580 name: Volvulus def: "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue." [https://orcid.org/0000-0002-0736-9199] comment: Volvulus can lead to intestinal obstruction and ischemia. xref: SNOMEDCT_US:90738007 xref: SNOMEDCT_US:9707006 xref: UMLS:C0042961 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002582 name: Atrophic gastritis def: "Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue." [https://orcid.org/0000-0002-0736-9199, PMID:21483628] comment: Atrophy of the gastric mucosa is the endpoint of chronic processes, such as chronic gastritis associated with Helicobacter pylori (H. pylori) infection, other unidentified environmental factors, and autoimmunity directed against gastric glandular cells. synonym: "Chronic atrophic gastritis" EXACT [] xref: SNOMEDCT_US:84568007 xref: UMLS:C0017154 is_a: HP:0005263 ! Gastritis [Term] id: HP:0002583 name: Colitis def: "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:64226004 xref: UMLS:C0009319 is_a: HP:0002037 ! Inflammation of the large intestine [Term] id: HP:0002584 name: Intestinal bleeding def: "Bleeding from the intestines." [https://orcid.org/0000-0003-2945-4463] synonym: "Intestinal bleeding" EXACT layperson [] synonym: "Intestinal haemorrhage" EXACT uk_spelling [] synonym: "Intestinal hemorrhage" EXACT [] xref: SNOMEDCT_US:712510007 xref: UMLS:C0267373 is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002585 name: Abnormal peritoneum morphology def: "An abnormality of the peritoneum." [https://orcid.org/0000-0002-0736-9199] comment: The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs. synonym: "Abnormality of the peritoneum" EXACT [] xref: UMLS:C4025698 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002586 name: Peritonitis alt_id: HP:0100591 def: "Inflammation of the peritoneum." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of the peritoneum" EXACT [] xref: SNOMEDCT_US:48661000 xref: UMLS:C0031154 is_a: HP:0002585 ! Abnormal peritoneum morphology is_a: HP:0045073 ! Serositis [Term] id: HP:0002587 name: Projectile vomiting def: "Vomiting that ejects the gastric contents with great force." [https://orcid.org/0000-0002-0736-9199] synonym: "Projectile vomiting" EXACT layperson [] xref: SNOMEDCT_US:8579004 xref: UMLS:C0221151 is_a: HP:0002013 ! Vomiting [Term] id: HP:0002588 name: Duodenal ulcer def: "An erosion of the mucous membrane in a portion of the duodenum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MEDDRA:10013836 "Duodenal ulcer" xref: SNOMEDCT_US:367474008 xref: SNOMEDCT_US:51868009 xref: UMLS:C0013295 is_a: HP:0002246 ! Abnormal duodenum morphology is_a: HP:0034274 ! Gastrointestinal ulcer [Term] id: HP:0002589 name: Gastrointestinal atresia synonym: "GI atresia" EXACT abbreviation [] xref: UMLS:C4025697 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology [Term] id: HP:0002590 name: Paralytic ileus xref: SNOMEDCT_US:55525008 xref: UMLS:C0030446 is_a: HP:0002595 ! Ileus [Term] id: HP:0002591 name: Polyphagia alt_id: HP:0000724 alt_id: HP:0002042 def: "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperphagia" EXACT [] synonym: "Increased appetite" RELATED layperson [] synonym: "Voracious appetite" EXACT layperson [] xref: SNOMEDCT_US:267023007 xref: SNOMEDCT_US:58424009 xref: SNOMEDCT_US:72405004 xref: UMLS:C0020505 xref: UMLS:C0232461 is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0002592 name: Gastric ulcer def: "An ulcer, that is, an erosion of an area of the gastric mucous membrane." [https://orcid.org/0000-0002-0736-9199] comment: The presence of a mucosal erosion equal to or greater than 0.5 cm. subset: hposlim_core synonym: "Stomach ulcer" EXACT layperson [] xref: MEDDRA:10017822 "Gastric ulcer" xref: SNOMEDCT_US:397825006 xref: UMLS:C0038358 is_a: HP:0004295 ! Abnormal gastric mucosa morphology is_a: HP:0004398 ! Peptic ulcer [Term] id: HP:0002593 name: Intestinal lymphangiectasia def: "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:197260007 xref: UMLS:C0024215 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0002594 name: Pancreatic hypoplasia alt_id: HP:0005221 def: "Hypoplasia of the pancreas." [https://orcid.org/0000-0002-0736-9199] comment: Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. synonym: "Hypoplastic pancreas" EXACT [] synonym: "Underdeveloped pancreas" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:68591005 xref: UMLS:C0266267 is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas [Term] id: HP:0002595 name: Ileus def: "Acute obstruction of the intestines preventing passage of the contents of the intestines." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Gastrointestinal atony" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10021328 "Ileus" xref: UMLS:C1258215 is_a: HP:0002579 ! Gastrointestinal dysmotility is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0002597 name: Abnormality of the vasculature def: "An abnormality of the vasculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the vasculature" EXACT layperson [] synonym: "Vascular abnormalities" EXACT layperson [] xref: UMLS:C0241657 is_a: HP:0001626 ! Abnormality of the cardiovascular system [Term] id: HP:0002599 name: Head titubation def: "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction." [https://orcid.org/0000-0002-0736-9199] comment: Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see PMID:4821687) was: As the disease progresses, some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea. xref: UMLS:C1608410 is_a: HP:0002346 ! Head tremor is_a: HP:0002457 ! Abnormal head movements is_a: HP:0030187 ! Titubation [Term] id: HP:0002600 name: Hyporeflexia of lower limbs alt_id: HP:0006861 def: "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [https://orcid.org/0000-0002-0736-9199] comment: Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. synonym: "Hyporeflexia in lower limbs" EXACT [] synonym: "Hyporeflexia of the lower limbs" EXACT [] synonym: "Hyporeflexia, lower limbs" EXACT [] synonym: "Hyporeflexia/areflexia in lower limbs" EXACT [] xref: UMLS:C1834696 is_a: HP:0001265 ! Hyporeflexia is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002601 name: Paresis of extensor muscles of the big toe xref: UMLS:C4025696 is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0002604 name: Gastrointestinal telangiectasia def: "Telangiectasia affecting the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. synonym: "GI telangiectasia" EXACT abbreviation [] synonym: "Small, enlarged blood vessels near skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1619711 is_a: HP:0004296 ! Abnormal gastrointestinal vascular morphology is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0002605 name: Hepatic necrosis def: "The presence of cell death (necrosis) affecting the liver." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:87248009 xref: UMLS:C0151798 is_a: HP:0410042 ! Abnormal liver morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:32:00Z [Term] id: HP:0002607 name: Bowel incontinence alt_id: HP:0007147 def: "Involuntary fecal soiling in adults and children who have usually already been toilet trained." [https://orcid.org/0009-0006-4530-3154] synonym: "Anal incontinence" EXACT [] synonym: "Faecal incontinence" EXACT uk_spelling [] synonym: "Fecal incontinence" EXACT [] synonym: "Loss of bowel control" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:72042002 xref: UMLS:C0015732 is_a: HP:0012700 ! Abnormal large intestine physiology is_a: HP:0031064 ! Impaired continence [Term] id: HP:0002608 name: Celiac disease def: "Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases." [https://orcid.org/0000-0002-0736-9199, PMID:23681421] synonym: "Celiac disease" EXACT layperson [] synonym: "Celiac sprue" EXACT [] synonym: "Coeliac disease" EXACT uk_spelling [] synonym: "Coeliac sprue" EXACT uk_spelling [] xref: SNOMEDCT_US:396331005 xref: UMLS:C0007570 is_a: HP:0002244 ! Abnormal small intestine morphology is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002611 name: Cholestatic liver disease xref: UMLS:C0860204 is_a: HP:0001396 ! Cholestasis [Term] id: HP:0002612 name: Congenital hepatic fibrosis def: "The presence of fibrosis of that part of the liver with congenital onset." [https://orcid.org/0000-0002-0736-9199] comment: Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis). synonym: "Congenital liver fibrosis" EXACT [] synonym: "Excessive buildup of connective tissue and scarring of liver at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:79607001 xref: UMLS:C0009714 is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0002613 name: Biliary cirrhosis def: "Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease." [https://orcid.org/0000-0002-0736-9199] synonym: "Primary biliary cirrhosis" RELATED [] xref: SNOMEDCT_US:1761006 xref: SNOMEDCT_US:31712002 xref: UMLS:C0008312 xref: UMLS:C0023892 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0002614 name: Hepatic periportal necrosis def: "A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0546389 is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0002615 name: Hypotension alt_id: HP:0005127 alt_id: HP:0006701 def: "Low Blood Pressure, vascular hypotension." [https://orcid.org/0000-0002-0736-9199] synonym: "Arterial hypotension" EXACT [] synonym: "Low blood pressure" EXACT layperson [] xref: SNOMEDCT_US:45007003 xref: UMLS:C0020649 is_a: HP:0030972 ! Abnormal systemic blood pressure [Term] id: HP:0002616 name: Aortic root aneurysm alt_id: HP:0002631 alt_id: HP:0004750 alt_id: HP:0005125 def: "An abnormal localized widening (dilatation) of the aortic root." [] synonym: "Aortic root dilatation" BROAD [] synonym: "Bulge in wall of root of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Enlarged aortic root" EXACT layperson [] synonym: "Increased aortic root diameter" EXACT [] xref: SNOMEDCT_US:251036003 xref: UMLS:C0238669 is_a: HP:0012727 ! Thoracic aortic aneurysm [Term] id: HP:0002617 name: Vascular dilatation def: "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [https://orcid.org/0000-0002-0736-9199, PMID:30225143] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm" NARROW layperson [] synonym: "Aneurysmal dilatation" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Aneurysmal disease" RELATED layperson [] synonym: "Aneurysms" NARROW layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Wider than typical opening or gap" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:2399 xref: SNOMEDCT_US:432119003 xref: SNOMEDCT_US:85659009 xref: UMLS:C0002940 xref: UMLS:C4020848 is_a: HP:0033353 ! Abnormal blood vessel morphology [Term] id: HP:0002619 name: Varicose veins def: "Enlarged and tortuous veins." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:128060009 xref: SNOMEDCT_US:12856003 xref: SNOMEDCT_US:399989005 xref: UMLS:C0042345 is_a: HP:0005293 ! Venous insufficiency [Term] id: HP:0002621 name: Atherosclerosis def: "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [https://orcid.org/0000-0002-0736-9199, PMID:31420554] comment: Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. synonym: "Atherosclerotic cardiovascular disease" EXACT [http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel, https://orcid.org/0000-0001-5208-3432] synonym: "Narrowing and hardening of arteries" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Plaque build-up in arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:38716007 xref: UMLS:C0004153 xref: UMLS:C4280569 is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0002622 name: obsolete Dissecting aortic dilatation is_obsolete: true replaced_by: HP:0002647 [Term] id: HP:0002623 name: Overriding aorta def: "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Dextroposition of aorta" EXACT [] synonym: "Overriding aortic valve" EXACT [] xref: Fyler:1432 xref: SNOMEDCT_US:63934006 xref: UMLS:C0011818 xref: UMLS:C0265886 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0002624 name: Abnormal venous morphology def: "An anomaly of vein." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal vein" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Venous abnormality" EXACT [] xref: UMLS:C0241665 is_a: HP:0033353 ! Abnormal blood vessel morphology [Term] id: HP:0002625 name: Deep venous thrombosis def: "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in a deep vein" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Deep vein thrombosis" EXACT [] synonym: "Multiple deep venous thrombosis" EXACT [] xref: SNOMEDCT_US:128053003 xref: UMLS:C0149871 is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0002626 name: Venous varicosities of celiac and mesenteric vessels def: "Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein." [https://orcid.org/0000-0002-0736-9199] synonym: "Venous varicosities of coeliac and mesenteric vessels" EXACT uk_spelling [] xref: UMLS:C1857692 is_a: HP:0002619 ! Varicose veins [Term] id: HP:0002627 name: Right aortic arch with mirror image branching def: "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0009-0006-4530-3154] xref: UMLS:C4025695 is_a: HP:0012020 ! Right aortic arch [Term] id: HP:0002629 name: Gastrointestinal arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract." [] synonym: "GI arteriovenous malformation" EXACT abbreviation [] xref: UMLS:C0744321 is_a: HP:0004296 ! Abnormal gastrointestinal vascular morphology is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002630 name: Fat malabsorption def: "Abnormality of the absorption of fat from the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:197494007 xref: UMLS:C0554103 is_a: HP:0002024 ! Malabsorption [Term] id: HP:0002631 name: obsolete Dilatation of ascending aorta is_obsolete: true replaced_by: HP:0002616 [Term] id: HP:0002632 name: Low-to-normal blood pressure synonym: "Low-to-normal blood pressure" EXACT layperson [] synonym: "Low-to-normal BP" EXACT abbreviation [] xref: UMLS:C1866500 is_a: HP:0002615 ! Hypotension [Term] id: HP:0002633 name: Vasculitis def: "Inflammation of blood vessel." [https://orcid.org/0000-0002-0736-9199] synonym: "Angiitis" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Inflammation of blood vessel" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:31996006 xref: UMLS:C0042384 is_a: HP:0033353 ! Abnormal blood vessel morphology [Term] id: HP:0002634 name: Arteriosclerosis def: "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity." [https://orcid.org/0000-0002-0736-9199] comment: Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. synonym: "Hardened artery wall" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:107671003 xref: SNOMEDCT_US:28960008 xref: SNOMEDCT_US:72092001 xref: UMLS:C0003850 xref: UMLS:C4280568 is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0002635 name: Type IV atherosclerotic lesion def: "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion." [PMID:7648691] synonym: "Atheromatosis" RELATED [] xref: SNOMEDCT_US:38716007 xref: UMLS:C0004153 is_a: HP:0031678 ! Atherosclerotic lesion [Term] id: HP:0002636 name: Dilatation of an abdominal artery def: "Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta." [https://orcid.org/0000-0002-0736-9199] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm of an abdominal artery" NARROW [] xref: UMLS:C4025694 is_a: HP:0002617 ! Vascular dilatation is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0002637 name: Cerebral ischemia def: "Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue." [] synonym: "Brain ischemia" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Cerebrovascular ischemia" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Disruption of blood oxygen supply to brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:287731003 xref: SNOMEDCT_US:389100007 xref: UMLS:C0007786 xref: UMLS:C0917798 is_a: HP:0033401 ! Tissue ischemia [Term] id: HP:0002638 name: Superficial thrombophlebitis def: "Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:2477008 xref: UMLS:C1510431 is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0002639 name: Budd-Chiari syndrome def: "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience." [https://orcid.org/0000-0002-0736-9199, PMID:16265183] xref: SNOMEDCT_US:82385007 xref: UMLS:C0856761 is_a: HP:0030846 ! Abnormality of venous physiology [Term] id: HP:0002640 name: Hypertension associated with pheochromocytoma def: "A type of hypertension associated with pheochromocytoma." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025693 is_a: HP:0000822 ! Hypertension [Term] id: HP:0002641 name: Peripheral thrombosis synonym: "Peripheral blood clot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849749 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0002642 name: Arteriovenous fistulas of celiac and mesenteric vessels synonym: "Arteriovenous fistulas of coeliac and mesenteric vessels" EXACT uk_spelling [] xref: UMLS:C1857693 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:0004947 ! Arteriovenous fistula [Term] id: HP:0002643 name: Neonatal respiratory distress def: "Respiratory difficulty as newborn." [https://orcid.org/0000-0002-0736-9199] synonym: "Infantile respiratory distress" EXACT layperson [] synonym: "Neonatal respiratory distress" EXACT layperson [] synonym: "Newborn respiratory distress" EXACT layperson [] synonym: "Respiratory distress, neonatal" EXACT layperson [] xref: UMLS:C0852283 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002644 name: Abnormal pelvic girdle bone morphology def: "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of pelvic girdle bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of pelvic girdle bone morphology" EXACT [] synonym: "Abnormality of the pelvic girdle" RELATED [] xref: UMLS:C4020847 is_a: HP:0011844 ! Abnormal appendicular skeleton morphology [Term] id: HP:0002645 name: Wormian bones def: "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium." [https://orcid.org/0000-0002-0736-9199] comment: Irregular, isolated bones in the lambdoidal suture or at the fontanelles. subset: hposlim_core synonym: "Extra bones within cranial sutures" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Intra sutural bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Intrasutural bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Islands of bone within cranial sutures" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:113194005 xref: UMLS:C0222716 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0002647 name: Aortic dissection alt_id: HP:0002622 def: "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [https://orcid.org/0000-0002-0736-9199] synonym: "Tear in inner wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:308546005 xref: UMLS:C0340643 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0002648 name: obsolete Abnormality of calvarial morphology is_obsolete: true replaced_by: HP:0002683 [Term] id: HP:0002650 name: Scoliosis alt_id: HP:0002770 alt_id: HP:0003303 alt_id: HP:0003317 alt_id: HP:0003415 def: "The presence of an abnormal lateral curvature of the spine." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cobb angle greater than ten degrees" RELATED [] xref: Fyler:4160 xref: SNOMEDCT_US:111266001 xref: SNOMEDCT_US:64217002 xref: UMLS:C0037932 xref: UMLS:C0700208 is_a: HP:0010674 ! Abnormal curvature of the vertebral column [Term] id: HP:0002651 name: Spondyloepimetaphyseal dysplasia xref: SNOMEDCT_US:254062008 xref: UMLS:C0432211 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002652 name: Skeletal dysplasia alt_id: HP:0005685 def: "A general term describing features characterized by abnormal development of bones and connective tissues." [https://orcid.org/0000-0002-0736-9199] comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. synonym: "Abnormal skeletal development" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:105985007 xref: SNOMEDCT_US:240190009 xref: UMLS:C0029422 xref: UMLS:C4280567 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0002653 name: Bone pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone." [] synonym: "Bone pain" EXACT layperson [] xref: SNOMEDCT_US:12584003 xref: UMLS:C0151825 is_a: HP:0011843 ! Abnormal musculoskeletal physiology is_a: HP:0012531 ! Pain [Term] id: HP:0002654 name: Multiple epiphyseal dysplasia xref: SNOMEDCT_US:59708000 xref: UMLS:C0026760 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002655 name: Spondyloepiphyseal dysplasia alt_id: HP:0002776 alt_id: HP:0005893 def: "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0038015 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002656 name: Epiphyseal dysplasia synonym: "Abnormal development of end part of bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal development of the ends of long bones in arms and legs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:254080004 xref: UMLS:C0392476 xref: UMLS:C4280566 is_a: HP:0002652 ! Skeletal dysplasia is_a: HP:0005930 ! Abnormal epiphysis morphology [Term] id: HP:0002657 name: Spondylometaphyseal dysplasia xref: SNOMEDCT_US:702350003 xref: UMLS:C0700635 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002659 name: Increased susceptibility to fractures alt_id: HP:0002662 alt_id: HP:0002798 alt_id: HP:0005710 alt_id: HP:0005783 alt_id: HP:0005931 def: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [https://orcid.org/0009-0006-4530-3154] comment: This is a bundled term that will be made obsolete. synonym: "Abnormal susceptibility to fractures" EXACT layperson [] synonym: "Bone fragility" EXACT layperson [] synonym: "Frequent broken bones" EXACT layperson [] synonym: "Increased bone fragility" EXACT layperson [] synonym: "Increased susceptibility to fractures" EXACT layperson [] synonym: "Increased tendency to fractures" EXACT layperson [] xref: UMLS:C1390474 is_a: HP:0011843 ! Abnormal musculoskeletal physiology [Term] id: HP:0002661 name: Painless fractures due to injury def: "An increased tendency to fractures following trauma, with fractures occurring without pain." [https://orcid.org/0000-0002-0736-9199] synonym: "Painless fractures due to injury" EXACT layperson [] xref: UMLS:C1837602 is_a: HP:0002659 ! Increased susceptibility to fractures is_a: HP:0010832 ! Abnormality of pain sensation [Term] id: HP:0002663 name: Delayed epiphyseal ossification alt_id: HP:0005862 synonym: "Delayed epiphyseal maturation" EXACT [] synonym: "Delayed maturation of end part of long bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Delayed opacification of the epiphyses" EXACT [] synonym: "Epiphyseal ossification delay" EXACT [] xref: UMLS:C1865200 xref: UMLS:C4280565 is_a: HP:0005930 ! Abnormal epiphysis morphology is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0002664 name: Neoplasm alt_id: HP:0003008 alt_id: HP:0006741 def: "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor)." [https://orcid.org/0000-0002-0736-9199] comment: The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. synonym: "Abnormal tissue mass" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Cancer" RELATED layperson [] synonym: "Neoplasia" EXACT [] synonym: "Oncological abnormality" EXACT [] synonym: "Oncology" RELATED [https://orcid.org/0000-0002-0736-9199] synonym: "Tumor" EXACT [] synonym: "Tumour" EXACT [] xref: NCIT:C3262 xref: SNOMEDCT_US:108369006 xref: SNOMEDCT_US:363346000 xref: UMLS:C0006826 xref: UMLS:C0027651 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002665 name: Lymphoma def: "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [https://orcid.org/0000-0002-0736-9199] synonym: "Cancer of lymphatic system" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: NCIT:C7065 xref: SNOMEDCT_US:115244002 xref: SNOMEDCT_US:118600007 xref: SNOMEDCT_US:188676008 xref: SNOMEDCT_US:21964009 xref: UMLS:C0024299 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0002666 name: Pheochromocytoma def: "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [https://orcid.org/0000-0002-0736-9199] synonym: "Chromaffin tumors" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Chromaffin tumours" EXACT uk_spelling [] xref: NCIT:C3326 xref: SNOMEDCT_US:302835009 xref: SNOMEDCT_US:399343007 xref: SNOMEDCT_US:85583005 xref: UMLS:C0031511 is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0002667 name: Nephroblastoma alt_id: HP:0000115 def: "The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children." [https://orcid.org/0000-0002-0736-9199] comment: Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblastoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. synonym: "Wilms tumor" EXACT [] synonym: "Wilms tumour" EXACT uk_spelling [] xref: NCIT:C40407 xref: SNOMEDCT_US:25081006 xref: SNOMEDCT_US:302849000 xref: UMLS:C0027708 is_a: HP:0011794 ! Embryonal renal neoplasm [Term] id: HP:0002668 name: Paraganglioma alt_id: HP:0002670 alt_id: HP:0003004 def: "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [https://orcid.org/0000-0002-0736-9199] synonym: "Carotid body tumors" EXACT [] synonym: "Carotid body tumours" EXACT uk_spelling [] synonym: "Paragangliomas" EXACT [https://orcid.org/0000-0002-5316-1399] xref: NCIT:C3308 xref: SNOMEDCT_US:127027008 xref: SNOMEDCT_US:253029009 xref: SNOMEDCT_US:302833002 xref: SNOMEDCT_US:72787006 xref: SNOMEDCT_US:803009 xref: UMLS:C0030421 is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0002669 name: Osteosarcoma def: "A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor." [https://orcid.org/0000-0002-0736-9199] synonym: "Bone cell cancer" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Osteogenic sarcoma" EXACT [] xref: NCIT:C9145 xref: SNOMEDCT_US:21708004 xref: SNOMEDCT_US:307576001 xref: UMLS:C0029463 is_a: HP:0010622 ! Neoplasm of the skeletal system is_a: HP:0100242 ! Sarcoma [Term] id: HP:0002671 name: Basal cell carcinoma def: "The presence of a basal cell carcinoma of the skin." [https://orcid.org/0009-0006-4530-3154] comment: A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life. synonym: "Basal cell carcinomas" EXACT [] synonym: "Basal cell epithelioma" EXACT [] synonym: "Basal cell nevus" EXACT [] synonym: "Basalioma" EXACT [] xref: NCIT:C2921 xref: SNOMEDCT_US:1338007 xref: SNOMEDCT_US:254701007 xref: SNOMEDCT_US:275265005 xref: UMLS:C0007117 xref: UMLS:C1862314 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002672 name: Gastrointestinal carcinoma synonym: "GI carcinoma" EXACT abbreviation [] xref: UMLS:C0151544 is_a: HP:0006749 ! Malignant gastrointestinal tract tumors [Term] id: HP:0002673 name: Coxa valga def: "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6670-9157] synonym: "Coxa valga deformity" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Valgus hip" EXACT [] xref: SNOMEDCT_US:299236004 xref: UMLS:C0239137 xref: UMLS:C3549698 is_a: HP:0003367 ! Abnormal femoral neck morphology [Term] id: HP:0002676 name: Cloverleaf skull alt_id: HP:0004477 alt_id: HP:0005459 def: "Trilobar skull configuration when viewed from the front or behind." [PMID:19125436, PMID:29089832] comment: A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. See figure 3 in PMID:29089832. subset: hposlim_core synonym: "Cloverleaf cranium shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cloverleaf skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Kleeblattschaedel" EXACT [] synonym: "Trilobar cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Trilobar skull shape" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860050 xref: UMLS:C4280564 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0002677 name: Small foramen magnum alt_id: HP:0005468 def: "An abnormal narrowing of the foramen magnum." [https://orcid.org/0000-0002-0736-9199] comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord. subset: hposlim_core synonym: "Foramen magnum stenosis" EXACT [] synonym: "Hypoplasia of foramen magnum" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Little foramen magnum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow foramen magnum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Stenosis of foramen magnum" NARROW [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:444879009 xref: UMLS:C1535953 xref: UMLS:C1861217 xref: UMLS:C4072838 is_a: HP:0002699 ! Abnormal foramen magnum morphology [Term] id: HP:0002678 name: Skull asymmetry synonym: "Abnormality of skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of skull shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Skull asymmetry" EXACT layperson [] synonym: "Unequal skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:248372000 xref: UMLS:C0424690 xref: UMLS:C4280562 xref: UMLS:C4280563 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0002679 name: Abnormal sella turcica morphology def: "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the sella turcica" EXACT [] synonym: "Anomaly of the hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021754 xref: UMLS:C4072839 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002680 name: J-shaped sella turcica def: "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hour glass shaped hypophysial fossa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hour glass shaped pituitary fossa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hour glass shaped sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "J-shaped hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "J-shaped pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "J-shaped sella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Omega shaped hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Omega shaped pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Omega shaped sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1854718 xref: UMLS:C4072841 xref: UMLS:C4072842 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0002681 name: Deformed sella turcica synonym: "Abnormal shape of hypophysial fossa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal shape of pituitary fossa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal shape of sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of hypophysial fossa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of pituitary fossa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of hypophysial fossa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of pituitary fossa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1846437 is_a: HP:0002679 ! Abnormal sella turcica morphology [Term] id: HP:0002682 name: Broad skull def: "Increased width of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Broad skull" EXACT layperson [] synonym: "Increased width of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:248374004 xref: UMLS:C0424693 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0002683 name: Abnormal calvaria morphology alt_id: HP:0002648 def: "Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain." [https://orcid.org/0000-0002-0736-9199] comment: The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. synonym: "Abnormality of calvarium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of cranial vault" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of cranium" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the calvaria" EXACT [] synonym: "Abnormality of the shape of calvarium" EXACT [] synonym: "Abnormality of the skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the skullcap" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025691 xref: UMLS:C4280561 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002684 name: Thickened calvaria def: "The presence of an abnormally thick calvaria." [https://orcid.org/0000-0002-0736-9199] synonym: "Calvarial thickening" EXACT [] synonym: "Calvarium thickened" EXACT [] synonym: "Increased calvarial thickness" EXACT [] synonym: "Increased thickness of calvaria" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased thickness of calvarium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased thickness of cranial vault" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased thickness of cranium" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased thickness of skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick calvaria" EXACT [] synonym: "Thick calvarium" EXACT [] synonym: "Thickened calvarium" EXACT [] synonym: "Thickened cranial vault" EXACT [] synonym: "Thickened cranium" EXACT [] synonym: "Thickened skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thickening of the calvaria" EXACT [] xref: UMLS:C1858452 xref: UMLS:C4280560 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0002686 name: Pregnancy history def: "Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product." [] synonym: "Maternal health problem" RELATED layperson [] synonym: "Prenatal maternal abnormality" EXACT [] xref: UMLS:C4025690 is_a: HP:0032443 ! Past medical history [Term] id: HP:0002687 name: Abnormality of frontal sinus def: "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone." [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of sinus frontalis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the forehead sinus" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025689 is_a: HP:0000245 ! Abnormal paranasal sinus morphology [Term] id: HP:0002688 name: Absent frontal sinuses alt_id: HP:0005452 alt_id: HP:0005475 def: "Aplasia of frontal sinus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absence of frontal sinuses" EXACT [] synonym: "Absent frontal sinus" EXACT [] synonym: "Aplasia of frontal sinus" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia sinus frontalis" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Missing frontal sinus" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855669 xref: UMLS:C4280559 is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002689 name: Absent paranasal sinuses def: "Aplasia of the paranasal sinuses." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of paranasal sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of paranasal sinuses" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Missing paranasal sinuses" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing sinuses" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1857131 xref: UMLS:C3804986 xref: UMLS:C4072844 is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses [Term] id: HP:0002690 name: Large sella turcica alt_id: HP:0005444 def: "An abnormal enlargement of the sella turcica." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Big sella turcica" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Enlarged sella turcica" EXACT [] synonym: "Hyperplasia of hypophysial fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large hypophysial fossa" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large pituitary fossa" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent sella turcica" EXACT [] xref: UMLS:C1843677 xref: UMLS:C4072845 xref: UMLS:C4072846 is_a: HP:0002679 ! Abnormal sella turcica morphology [Term] id: HP:0002691 name: Platybasia def: "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [https://orcid.org/0000-0002-0736-9199] comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the center of the pituitary fossa line joining the anterior border of the foramen magnum with the center of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. {xref="https://orcid.org/0000-0001-5889-4463"} subset: hposlim_core synonym: "Flattening of the skull base" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased basal angle of skull base" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Obtuse basal angle of skull base" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:86587003 xref: UMLS:C0032209 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0002692 name: Hypoplastic facial bones synonym: "Decreased size of facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of facial bones" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of facial skeleton" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of facial skeleton" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic facial bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic facial skeleton" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small facial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small facial skeleton" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of facial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of facial skeleton" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1846438 xref: UMLS:C4229090 xref: UMLS:C4280268 xref: UMLS:C4280557 xref: UMLS:C4280558 is_a: HP:0034261 ! Aplasia/Hypoplasia of facial bones [Term] id: HP:0002693 name: Abnormal skull base morphology def: "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranial base" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the skull base" EXACT layperson [] xref: UMLS:C4025688 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002694 name: Sclerosis of skull base alt_id: HP:0005757 def: "Increased bone density of the skull base without significant changes in bony contour." [https://orcid.org/0000-0002-0736-9199] synonym: "Dense bone of skull base" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "HyperCalcification of skull base" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "HyperMineralization of skull base" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperossification of skull base" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of skull base" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Marked sclerosis of skull base" EXACT [] synonym: "Sclerosis of cranial base" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Sclerosis of the skull base" EXACT [] synonym: "Sclerotic skull base" EXACT [] xref: UMLS:C1851714 xref: UMLS:C4072847 xref: UMLS:C4072848 is_a: HP:0002693 ! Abnormal skull base morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0002695 name: obsolete Symmetrical, oval parietal bone defects is_obsolete: true replaced_by: HP:0002697 [Term] id: HP:0002696 name: Abnormal parietal bone morphology def: "Any abnormality of the parietal bone of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the parietal bone" EXACT [] synonym: "Abnormality of the parietal bone of skull" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021834 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0002697 name: Parietal foramina alt_id: HP:0002695 def: "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide." [https://orcid.org/0000-0002-0736-9199] comment: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. synonym: "Holes in parietal bones" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Openings in parietal bones" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Persistent foramina of the parietal bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Symmetrical, oval defects in the parietal bone" EXACT [] synonym: "Symmetrical, oval parietal bone defects" EXACT [] xref: SNOMEDCT_US:11240000 xref: SNOMEDCT_US:29307005 xref: UMLS:C0222706 xref: UMLS:C4280556 is_a: HP:0002696 ! Abnormal parietal bone morphology [Term] id: HP:0002699 name: Abnormal foramen magnum morphology def: "Any abnormality of the foramen magnum." [https://orcid.org/0000-0002-0736-9199] comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. subset: hposlim_core synonym: "Abnormality of the foramen magnum" EXACT [] xref: UMLS:C4025687 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002700 name: Large foramen magnum def: "An abnormal increase in the size of the foramen magnum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Big foramen magnum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dilation of foramen magnum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Enlarged foramen magnum" EXACT [] synonym: "Increased circumference of foramen magnum" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Increased diameter of foramen magnum" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Wide foramen magnum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844508 xref: UMLS:C4073291 xref: UMLS:C4280554 xref: UMLS:C4280555 is_a: HP:0002699 ! Abnormal foramen magnum morphology [Term] id: HP:0002703 name: Abnormality of skull ossification def: "An abnormality of the process of ossification of the skull." [https://orcid.org/0000-0002-0736-9199] comment: The bones of the skull derive directly from mesenchyme cells by intramembranous ossification. synonym: "Abnormality of bone calcification of calvarium" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of bone calcification of cranium" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of bone calcification of skull" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of bone formation of calvarium" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of bone formation of cranium" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of bone mineralization of calvarium" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of bone mineralization of cranium" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of bone mineralization of skull" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of ossification of calvarium" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of ossification of cranium" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of skull bone formation" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025686 xref: UMLS:C4280550 xref: UMLS:C4280551 xref: UMLS:C4280552 xref: UMLS:C4280553 is_a: HP:0000929 ! Abnormal skull morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-28T11:53:00Z [Term] id: HP:0002705 name: High, narrow palate def: "The presence of a high and narrow palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Gothic palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "High narrow palate" EXACT [] synonym: "High vaulted palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "High, narrow palate" EXACT layperson [] synonym: "Narrow and high arched palate" EXACT [] synonym: "Narrow, high-arched palate" EXACT [] synonym: "Narrow, high-arched roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Narrow, highly arched palate" EXACT [] synonym: "Narrow, highly arched roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837404 is_a: HP:0000189 ! Narrow palate is_a: HP:0000218 ! High palate [Term] id: HP:0002707 name: Palate telangiectasia alt_id: HP:0000229 def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Palatal angioectasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Palatal spider veins" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Palatal telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Palate telangiectases" EXACT [] synonym: "Palate teleangiectases" EXACT [] synonym: "Spider veins of the roof of the mouth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of the roof of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1857699 xref: UMLS:C4280267 is_a: HP:0000174 ! Abnormal palate morphology is_a: HP:0000228 ! Oral cavity telangiectasia [Term] id: HP:0002708 name: Prominent median palatal raphe def: "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Prominent central palatal ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent central ridge on roof of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent medial palatal suture" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845108 is_a: HP:0000174 ! Abnormal palate morphology [Term] id: HP:0002710 name: Commissural lip pit def: "A depression located at an oral commissure." [https://orcid.org/0009-0006-4530-3154, PMID:19125428] comment: Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. subset: hposlim_core synonym: "Commissural labial pits" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Commissural pit" EXACT [] synonym: "Lip pits at corners of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pits at the corners of the lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0399605 is_a: HP:0100267 ! Lip pit [Term] id: HP:0002711 name: Exaggerated median tongue furrow def: "Increased depth of the median tongue furrow." [https://orcid.org/0000-0002-0736-9199] synonym: "Deep central lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deep central lingual groove" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deep central tongue furrow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deep central tongue groove" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deep median lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deep median lingual groove" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deep median tongue furrow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deep median tongue groove" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Exaggerated median lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845109 is_a: HP:0000221 ! Furrowed tongue [Term] id: HP:0002714 name: Downturned corners of mouth alt_id: HP:0000192 def: "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). subset: hposlim_core synonym: "Downturned corners of mouth" EXACT layperson [] synonym: "Downturned corners of the mouth" EXACT layperson [] synonym: "Downturned mouth" EXACT layperson [] synonym: "Downturned oral commisures" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1866195 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0002715 name: Abnormality of the immune system alt_id: HP:0003257 alt_id: HP:0003346 alt_id: HP:0010986 def: "An abnormality of the immune system." [https://orcid.org/0000-0002-0736-9199] comment: The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. synonym: "Abnormality of the immune system" EXACT layperson [] synonym: "Immunological abnormality" EXACT layperson [] xref: UMLS:C4021753 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002716 name: Lymphadenopathy alt_id: HP:0002735 def: "Enlargement (swelling) of a lymph node." [https://orcid.org/0000-0002-0736-9199] synonym: "Lymph node hyperplasia" EXACT [] synonym: "Swollen lymph nodes" EXACT layperson [] xref: SNOMEDCT_US:30746006 xref: UMLS:C0497156 is_a: HP:0002733 ! Abnormal lymph node morphology [Term] id: HP:0002717 name: Adrenal overactivity comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. xref: UMLS:C4025685 is_a: HP:0011733 ! Abnormality of adrenal physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T10:41:00Z [Term] id: HP:0002718 name: Recurrent bacterial infections alt_id: HP:0005355 alt_id: HP:0005361 alt_id: HP:0005367 alt_id: HP:0005391 alt_id: HP:0005393 alt_id: HP:0005410 def: "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection." [https://orcid.org/0000-0002-0736-9199] synonym: "Bacterial infections, recurrent" EXACT layperson [] synonym: "Frequent bacterial infections" EXACT layperson [] synonym: "Frequent pyogenic infections" EXACT [] synonym: "Increased susceptibility to bacterial infections" EXACT layperson [] synonym: "Prone to bacterial infection" RELATED layperson [] synonym: "Recurrent bacterial infections" EXACT layperson [] synonym: "Recurrent major bacterial infections" EXACT layperson [] synonym: "Recurrent pyogenic infections" EXACT [] synonym: "Susceptibility to pyogenic infection" EXACT [] xref: SNOMEDCT_US:428875002 xref: UMLS:C1844383 xref: UMLS:C2748958 xref: UMLS:C4020846 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002719 name: Recurrent infections alt_id: HP:0002957 alt_id: HP:0002964 alt_id: HP:0005405 def: "Increased susceptibility to infections." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-5316-1399] synonym: "Frequent infections" EXACT layperson [] synonym: "Frequent, severe infections" EXACT layperson [] synonym: "Increased frequency of infection" EXACT layperson [] synonym: "infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Predisposition to infections" EXACT layperson [] synonym: "Recurrent infections" EXACT layperson [] synonym: "Susceptibility to infection" EXACT layperson [] xref: UMLS:C0239998 is_a: HP:0032101 ! Unusual infection [Term] id: HP:0002720 name: Decreased circulating IgA concentration alt_id: HP:0005358 alt_id: HP:0005399 alt_id: HP:0005431 alt_id: HP:0008350 def: "Decreased levels of immunoglobulin A (IgA)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased circulating IgA level" EXACT [] synonym: "Decreased IgA" EXACT [] synonym: "Decreased immunoglobulin A" EXACT [] synonym: "Gamma-A globulin deficiency" EXACT [] synonym: "IgA deficiency" EXACT [] synonym: "Low levels of immunoglobulin A" EXACT [] synonym: "Reduced IgA levels" EXACT [] xref: SNOMEDCT_US:29260007 xref: UMLS:C0162538 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration is_a: HP:0410240 ! Abnormal circulating IgA concentration [Term] id: HP:0002721 name: Immunodeficiency alt_id: HP:0005362 alt_id: HP:0005371 def: "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227] synonym: "Decreased immune function" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Immune deficiency" EXACT [] xref: SNOMEDCT_US:234532001 xref: UMLS:C0021051 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002722 name: Recurrent abscess formation def: "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025684 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002723 name: Absence of bactericidal oxidative respiratory burst in phagocytes def: "An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity." [GO:0045728] xref: UMLS:C1844385 is_a: HP:0010977 ! Abnormal phagocytosis [Term] id: HP:0002724 name: Recurrent Aspergillus infections def: "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Aspergillus infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4021752 is_a: HP:0002841 ! Recurrent fungal infections [Term] id: HP:0002725 name: Systemic lupus erythematosus def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. synonym: "SLE" EXACT abbreviation [] xref: SNOMEDCT_US:55464009 xref: UMLS:C0024141 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0002726 name: Recurrent Staphylococcus aureus infections def: "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection." [https://orcid.org/0000-0002-0736-9199] synonym: "Staphylococcus aureus infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2673462 is_a: HP:0007499 ! Recurrent staphylococcal infections [Term] id: HP:0002728 name: Chronic mucocutaneous candidiasis alt_id: HP:0005392 def: "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails." [https://orcid.org/0000-0002-0736-9199, PMID:20859203] comment: The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. synonym: "Chronic candidiasis of mucosa, skin and nails" EXACT [] synonym: "Mucocutaneous candidiasis" EXACT [] xref: SNOMEDCT_US:234568006 xref: UMLS:C0006845 is_a: HP:0011370 ! Recurrent cutaneous fungal infections [Term] id: HP:0002729 name: Follicular hyperplasia def: "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [https://orcid.org/0000-0002-0736-9199, PMID:23281438, PMID:27929264] comment: Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one. xref: UMLS:C4014733 is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0002730 name: Chronic noninfectious lymphadenopathy def: "A chronic form of lymphadenopathy that is not related to infection." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1858970 is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0002731 name: Decreased T cell apoptosis def: "Abnormal decrease of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories." [https://orcid.org/0000-0002-0736-9199] comment: Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis. synonym: "Defective lymphocyte apoptosis" EXACT [] xref: UMLS:C1858969 is_a: HP:0030886 ! Abnormal T cell apoptosis [Term] id: HP:0002732 name: Lymph node hypoplasia def: "Underdevelopment of the lymph nodes." [https://orcid.org/0000-0002-0736-9199] synonym: "Small lymph nodes" RELATED layperson [] xref: UMLS:C1865377 xref: UMLS:C4025683 is_a: HP:0002733 ! Abnormal lymph node morphology [Term] id: HP:0002733 name: Abnormal lymph node morphology alt_id: HP:0008149 def: "A structural lymph node abnormality." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal lymph node histology" EXACT layperson [] synonym: "Abnormality of the lymph nodes" EXACT layperson [] xref: UMLS:C0149727 is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0002737 name: Thick skull base synonym: "Increased thickness of bone of skull base" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased thickness of skull base" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick skull base" EXACT layperson [] xref: UMLS:C1839507 is_a: HP:0002693 ! Abnormal skull base morphology [Term] id: HP:0002738 name: Hypoplastic frontal sinuses def: "Underdevelopment of frontal sinus." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased pneumatization of frontal sinus" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of frontal sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic frontal sinus" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small frontal sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdeveloped frontal sinuses" EXACT [] xref: UMLS:C1859682 xref: UMLS:C4280548 xref: UMLS:C4280549 is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002740 name: Recurrent E. coli infections def: "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent." [https://orcid.org/0000-0002-0736-9199] synonym: "E coli infections" EXACT [] synonym: "E coli infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:71057007 xref: UMLS:C0014836 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002741 name: Recurrent Serratia marcescens infections def: "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025682 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002742 name: Recurrent Klebsiella infections def: "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection." [https://orcid.org/0000-0002-0736-9199] synonym: "Klebsiella infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4021751 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002743 name: Recurrent enteroviral infections def: "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025681 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0002744 name: obsolete Bilateral cleft lip and palate is_obsolete: true consider: HP:0100337 [Term] id: HP:0002745 name: Oral leukoplakia def: "A thickened white patch on the oral mucosa that cannot be rubbed off." [https://orcid.org/0000-0002-0736-9199, PMID:17944749] comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. subset: hposlim_core synonym: "leukokeratosis" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Oral idiopathic keratosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral idiopathic leukoplakia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral idiopathic white patch" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral leucoplakia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral leukokeratosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral leukoplasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral white patch" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oral white plaque" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:414603003 xref: SNOMEDCT_US:9187004 xref: UMLS:C0023532 xref: UMLS:C1704317 is_a: HP:0025125 ! White lesion of the oral mucosa [Term] id: HP:0002747 name: Respiratory insufficiency due to muscle weakness alt_id: HP:0004882 alt_id: HP:0004888 synonym: "Decreased lung function due to weak breathing muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Decreased respiratory function due to muscle weakness" EXACT [] synonym: "Respiratory distress due to muscle weakness" EXACT [] synonym: "Respiratory failure due to muscle weakness" EXACT [] synonym: "Respiratory muscle weakness" EXACT [] xref: UMLS:C3806467 is_a: HP:0002093 ! Respiratory insufficiency is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002748 name: Rickets def: "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets." [GARD:0005700] synonym: "Weak and soft bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:41345002 xref: UMLS:C0035579 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002749 name: Osteomalacia def: "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [https://orcid.org/0000-0002-0736-9199] synonym: "Softening of the bones" EXACT layperson [] xref: SNOMEDCT_US:4598005 xref: UMLS:C0029442 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002750 name: Delayed skeletal maturation alt_id: HP:0000928 alt_id: HP:0002806 def: "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed bone age" EXACT [] synonym: "Delayed bone age before puberty" EXACT [] synonym: "Delayed bone maturation" EXACT layperson [] synonym: "Delayed skeletal development" EXACT layperson [] synonym: "Retarded bone age" EXACT [] synonym: "Retarded ossification" RELATED [] synonym: "Skeletal maturation retardation" EXACT [] xref: SNOMEDCT_US:123983008 xref: UMLS:C0541764 is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0002751 name: Kyphoscoliosis alt_id: HP:0003412 alt_id: HP:0003424 alt_id: HP:0004593 alt_id: HP:0005728 def: "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:405773007 xref: UMLS:C0575158 is_a: HP:0002650 ! Scoliosis is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002752 name: Sparse bone trabeculae xref: UMLS:C1833324 is_a: HP:0100671 ! Abnormal trabecular bone morphology [Term] id: HP:0002753 name: Thin bony cortex alt_id: HP:0003104 def: "Abnormal thinning of the cortical region of bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Thin cortices" EXACT [] xref: UMLS:C1833325 is_a: HP:0003103 ! Abnormal cortical bone morphology [Term] id: HP:0002754 name: Osteomyelitis alt_id: HP:0002755 alt_id: HP:0005901 def: "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism." [https://orcid.org/0000-0002-0736-9199, PMID:15276398] comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. synonym: "Bone infection" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:111253001 xref: SNOMEDCT_US:60168000 xref: UMLS:C0029443 xref: UMLS:C2242472 is_a: HP:0011843 ! Abnormal musculoskeletal physiology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0002755 name: obsolete Osteomyelitis due to immunodeficiency is_obsolete: true replaced_by: HP:0002754 [Term] id: HP:0002756 name: Pathologic fracture alt_id: HP:0005633 def: "A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Pathologic fractures" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Spontaneous fracture" EXACT layperson [] synonym: "Spontaneous fractures" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:22640007 xref: SNOMEDCT_US:268029009 xref: UMLS:C0016663 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002757 name: Recurrent fractures alt_id: HP:0002660 alt_id: HP:0002767 alt_id: HP:0002809 def: "The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture)." [https://orcid.org/0000-0002-0736-9199] comment: This term will be made obsolete. The annotations need to be checked. synonym: "Frequent fractures" EXACT [] synonym: "Increased fracture rate" EXACT layperson [] synonym: "Increased fractures" EXACT layperson [] synonym: "Multiple fractures" EXACT layperson [] synonym: "Multiple spontaneous fractures" EXACT layperson [] synonym: "Recurrent fractures" EXACT layperson [] synonym: "Varying degree of multiple fractures" EXACT layperson [] xref: SNOMEDCT_US:134291007 xref: SNOMEDCT_US:5468008 xref: UMLS:C0016655 xref: UMLS:C1833752 xref: UMLS:C3805574 xref: UMLS:C3806283 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002758 name: Osteoarthritis alt_id: HP:0001379 alt_id: HP:0002824 alt_id: HP:0005762 def: "Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity." [] synonym: "Degenerative joint disease" EXACT layperson [] xref: SNOMEDCT_US:225655006 xref: SNOMEDCT_US:396275006 xref: UMLS:C0029408 is_a: HP:0001369 ! Arthritis [Term] id: HP:0002761 name: Generalized joint hypermobility def: "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred." [https://orcid.org/0000-0002-0736-9199, PMID:28145606] synonym: "Generalised joint laxity" EXACT uk_spelling [] synonym: "Generalized joint laxity" EXACT [] synonym: "Hypermobility of all joints" EXACT layperson [] synonym: "Joint laxity, generalised" RELATED uk_spelling [] synonym: "Joint laxity, generalized" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1836308 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0002762 name: Multiple exostoses def: "Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:254044004 xref: UMLS:C0015306 is_a: HP:0100777 ! Exostoses [Term] id: HP:0002763 name: Abnormal cartilage morphology alt_id: HP:0410007 def: "Any morphological abnormality of cartilage." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of cartilage" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of cartilage morphology" EXACT [] xref: UMLS:C4025680 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0002764 name: Stippled chondral calcification def: "Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints)." [https://orcid.org/0000-0002-0736-9199, PMID:29246349] comment: See the figure in PMID:29246349 xref: UMLS:C4025679 is_a: HP:0002832 ! Calcific stippling is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0002766 name: Relatively short spine synonym: "Relatively short spine" EXACT layperson [] xref: UMLS:C3277114 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0002773 name: obsolete Small vertebral bodies is_obsolete: true replaced_by: HP:0008479 [Term] id: HP:0002777 name: Tracheal stenosis synonym: "Narrowing of windpipe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:11296007 xref: UMLS:C0040583 is_a: HP:0002778 ! Abnormal tracheal morphology [Term] id: HP:0002778 name: Abnormal tracheal morphology def: "A structural anomaly of the trachea." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal trachea morphology" EXACT [] synonym: "Abnormality of the trachea" EXACT [] synonym: "Tracheal disease" RELATED [] xref: SNOMEDCT_US:47125007 xref: UMLS:C0040580 xref: UMLS:C4025678 is_a: HP:0005607 ! Abnormal tracheobronchial morphology [Term] id: HP:0002779 name: Tracheomalacia synonym: "Floppy windpipe" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:95434006 xref: UMLS:C0948187 is_a: HP:0002778 ! Abnormal tracheal morphology [Term] id: HP:0002780 name: Bronchomalacia def: "Weakness or softness of the cartilage in the walls of the bronchial tubes." [PMID:15764786] xref: SNOMEDCT_US:54203008 xref: UMLS:C0264353 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0002781 name: Upper airway obstruction def: "Increased resistance to the passage of air in the upper airway." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Upper airway obstruction" EXACT layperson [] xref: UMLS:C0740852 is_a: HP:0006536 ! Airway obstruction [Term] id: HP:0002783 name: Recurrent lower respiratory tract infections alt_id: HP:0004884 alt_id: HP:0005955 def: "An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic lung infections" EXACT [] synonym: "Lower respiratory tract infections" EXACT [] synonym: "Recurrent chest infections" EXACT layperson [] xref: SNOMEDCT_US:448739000 xref: SNOMEDCT_US:50417007 xref: UMLS:C0149725 xref: UMLS:C0585953 xref: UMLS:C3163798 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002786 name: Tracheobronchomalacia def: "Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:233788001 xref: UMLS:C0340231 is_a: HP:0002779 ! Tracheomalacia is_a: HP:0002780 ! Bronchomalacia [Term] id: HP:0002787 name: Tracheal calcification def: "Calcification (abnormal deposits of calcium) in the tracheal tissues." [https://orcid.org/0000-0002-0736-9199, PMID:18663210] synonym: "Calcification of the trachea" EXACT [] synonym: "Tracheal calcifications" EXACT plural_form [] synonym: "Tracheal ectopic calcification" EXACT [] xref: SNOMEDCT_US:81089005 xref: UMLS:C0264324 is_a: HP:0002778 ! Abnormal tracheal morphology is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002788 name: Recurrent upper respiratory tract infections alt_id: HP:0001740 alt_id: HP:0002784 def: "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent upper respiratory infections" EXACT [] synonym: "Frequent upper respiratory tract infections" EXACT [] synonym: "Recurrent colds" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT [] synonym: "Recurrent upper respiratory infection" EXACT [] synonym: "Recurrent upper respiratory infections" EXACT [] synonym: "Recurrent URI" EXACT abbreviation [] synonym: "Upper respiratory tract infections" EXACT [] synonym: "Upper respiratory tract infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:195708003 xref: UMLS:C0581381 is_a: HP:0001739 ! Abnormal nasopharynx morphology is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002789 name: Tachypnea alt_id: HP:0002874 alt_id: HP:0004346 def: "Very rapid breathing." [https://orcid.org/0000-0002-0736-9199] comment: In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. synonym: "Increased respiratory rate or depth of breathing" EXACT layperson [] synonym: "Polypnea" EXACT [] xref: SNOMEDCT_US:271823003 xref: UMLS:C0231835 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002790 name: Neonatal breathing dysregulation synonym: "Impaired breathing in newborn" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3806216 is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0002791 name: Hypoventilation alt_id: HP:0004892 def: "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)." [https://orcid.org/0000-0002-0736-9199] comment: Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. synonym: "Alveolar hypoventilation" EXACT [] synonym: "Respiratory depression" RELATED [] synonym: "Slow breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Under breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:15993004 xref: SNOMEDCT_US:31515003 xref: SNOMEDCT_US:80954004 xref: UMLS:C0235063 xref: UMLS:C3203358 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002792 name: Reduced vital capacity def: "An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased vital capacity" EXACT [] xref: SNOMEDCT_US:274715008 xref: SNOMEDCT_US:607007 xref: UMLS:C0476408 xref: UMLS:C0520831 is_a: HP:0030878 ! Abnormality on pulmonary function testing [Term] id: HP:0002793 name: Abnormal pattern of respiration def: "An anomaly of the rhythm or depth of breathing." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pattern of respiration" EXACT layperson [] synonym: "Abnormal respiratory patterns" EXACT layperson [] synonym: "Unusual breathing patterns" EXACT layperson [] xref: UMLS:C1837388 is_a: HP:0002795 ! Abnormal respiratory system physiology [Term] id: HP:0002795 name: Abnormal respiratory system physiology alt_id: HP:0005952 def: "Abnormal function of the respiratory system." [] synonym: "Abnormal respiration" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Functional respiratory abnormality" EXACT layperson [] synonym: "Impaired pulmonary function" RELATED [] synonym: "Respiratory problem" RELATED layperson [] xref: Fyler:4200 xref: UMLS:C4025677 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002797 name: Osteolysis alt_id: HP:0010737 def: "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." [https://orcid.org/0000-0002-0736-9199] comment: Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. synonym: "Breakdown of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Increased bone resorption" EXACT [https://orcid.org/0009-0006-4530-3154] synonym: "Osteolytic defects of bones" EXACT [] xref: SNOMEDCT_US:203522001 xref: SNOMEDCT_US:30425001 xref: UMLS:C0221204 is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0002803 name: Congenital contracture def: "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth." [https://orcid.org/0000-0002-0736-9199] synonym: "congenital contractures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Congenital joint contractures" EXACT [] xref: UMLS:C0332878 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0002804 name: Arthrogryposis multiplex congenita alt_id: HP:0001389 alt_id: HP:0001390 alt_id: HP:0002759 alt_id: HP:0005188 alt_id: HP:0005663 alt_id: HP:0005809 alt_id: HP:0005859 def: "Multiple congenital contractures in different body areas." [https://orcid.org/0000-0002-0736-9199, PMID:23050160] comment: Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. synonym: "Arthrogryposis" EXACT [] synonym: "Arthrogryposis multiplex" EXACT [] synonym: "Arthrogryposis, congenital" EXACT [] synonym: "Multiple congenital contractures" EXACT [] xref: SNOMEDCT_US:111246005 xref: SNOMEDCT_US:77016009 xref: UMLS:C0003886 is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0002805 name: Accelerated bone age after puberty synonym: "Accelerated bone age after puberty" EXACT layperson [] xref: UMLS:C1860825 is_a: HP:0005616 ! Accelerated skeletal maturation [Term] id: HP:0002808 name: Kyphosis alt_id: HP:0002769 alt_id: HP:0003314 def: "Exaggerated anterior convexity of the thoracic vertebral column." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Gibbus deformity" EXACT [] synonym: "Hunched back" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Hyperkyphosis" EXACT [] synonym: "Round back" EXACT layperson [] xref: SNOMEDCT_US:414564002 xref: UMLS:C0022821 xref: UMLS:C1845112 is_a: HP:0010674 ! Abnormal curvature of the vertebral column [Term] id: HP:0002810 name: Dumbbell-shaped metaphyses alt_id: HP:0005079 synonym: "Dumbbell shaped metaphyses" EXACT [] synonym: "Dumbbell shaped metaphysis" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Dumbbell shaped wide portion of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3277123 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0002812 name: Coxa vara def: "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees." [https://orcid.org/0000-0002-0736-9199] comment: The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. xref: SNOMEDCT_US:74820003 xref: UMLS:C0239138 is_a: HP:0003367 ! Abnormal femoral neck morphology [Term] id: HP:0002813 name: Abnormal limb bone morphology def: "Any abnormality of bones of the arms or legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of limb bone morphology" EXACT [] synonym: "Arm and/or leg bone differences" EXACT layperson [] synonym: "Limb abnormality" EXACT layperson [] xref: UMLS:C4082761 is_a: HP:0011844 ! Abnormal appendicular skeleton morphology is_a: HP:0040068 ! Abnormality of limb bone [Term] id: HP:0002814 name: Abnormality of the lower limb def: "An abnormality of the leg." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the leg" EXACT [] synonym: "Abnormality of the lower limb" EXACT layperson [] synonym: "Lower limb deformities" EXACT layperson [] xref: SNOMEDCT_US:449715001 xref: UMLS:C1096086 is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0002815 name: Abnormality of the knee def: "An abnormality of the knee joint or surrounding structures." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the knee" EXACT layperson [] xref: UMLS:C4025676 is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0002816 name: Genu recurvatum def: "An abnormally increased extension of the knee joint, so that the knee can bend backwards." [https://orcid.org/0000-0002-0736-9199, PMID:9580896] comment: Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. subset: hposlim_core synonym: "Back knee" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, https://orcid.org/0000-0001-6908-9849] synonym: "Genu recurvata" EXACT [] synonym: "Knee hyperextension" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, https://orcid.org/0000-0001-6908-9849] xref: MEDDRA:10018194 "Genu recurvatum" xref: UMLS:C0546964 is_a: HP:0010500 ! Hyperextensibility of the knee [Term] id: HP:0002817 name: Abnormality of the upper limb alt_id: HP:0003838 def: "An abnormality of the arm." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the arm" EXACT [] synonym: "Abnormality of the upper limb" EXACT layperson [] xref: UMLS:C4020900 is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0002818 name: Abnormal morphology of the radius alt_id: HP:0045009 def: "An abnormality of the radius." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the radius" EXACT [] xref: UMLS:C4025675 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0002821 name: Neuropathic arthropathy synonym: "Charcot arthropathy" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Charcot joint" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:359554008 xref: SNOMEDCT_US:67536000 xref: UMLS:C0003892 is_a: HP:0003040 ! Arthropathy [Term] id: HP:0002822 name: Hyperplasia of the femoral trochanters synonym: "Hyperplastic femoral trochanters" EXACT [] xref: UMLS:C3277120 is_a: HP:0003366 ! Abnormal femoral neck/head morphology [Term] id: HP:0002823 name: Abnormal femur morphology alt_id: HP:0001439 def: "Any anomaly of the structure of the femur." [https://orcid.org/0000-0002-0736-9199] comment: The femur (plural: femora) is the thigh bone. synonym: "Abnormality of femur morphology" EXACT [] synonym: "Abnormality of the femora" EXACT [] synonym: "Abnormality of the thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021750 is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0002825 name: Caudal appendage def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [https://orcid.org/0000-0002-0736-9199, PMID:18266249, PMID:18629881, PMID:23904413] subset: hposlim_core synonym: "Coccygeal tail" EXACT [] synonym: "Human tail" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Sacral appendage" EXACT [] xref: UMLS:C3277117 is_a: HP:0008519 ! Abnormal coccyx morphology [Term] id: HP:0002826 name: Halberd-shaped pelvis def: "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle)." [https://orcid.org/0000-0002-0736-9199, PMID:19232556] synonym: "Halberd-shaped pelvis bone" EXACT [] xref: UMLS:C3277119 is_a: HP:0040163 ! Abnormal pelvis bone morphology [Term] id: HP:0002827 name: Hip dislocation alt_id: HP:0001375 alt_id: HP:0008826 def: "Displacement of the femur from its normal location in the hip joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Dislocated femoral heads" EXACT [] synonym: "Dislocated hips" EXACT layperson [] synonym: "Dislocation of hip" EXACT layperson [] synonym: "Dislocation of the femoral head" EXACT [] synonym: "Hip dislocation" EXACT layperson [] xref: SNOMEDCT_US:157265008 xref: UMLS:C0019554 is_a: HP:0001384 ! Abnormal hip joint morphology is_a: HP:0030311 ! Lower extremity joint dislocation [Term] id: HP:0002828 name: Multiple joint contractures xref: SNOMEDCT_US:19393004 xref: SNOMEDCT_US:202264009 xref: UMLS:C0158118 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0002829 name: Arthralgia def: "Joint pain." [https://orcid.org/0000-0002-0736-9199] comment: Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. synonym: "Arthralgias" EXACT [] synonym: "Arthritic pain" RELATED [] synonym: "Joint pain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Joint pains" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:57676002 xref: UMLS:C0003862 is_a: HP:0012531 ! Pain [Term] id: HP:0002831 name: Long coccyx synonym: "Long tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C3277116 is_a: HP:0008519 ! Abnormal coccyx morphology [Term] id: HP:0002832 name: Calcific stippling alt_id: HP:0005738 def: "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs)." [https://orcid.org/0000-0002-0736-9199] synonym: "Discrete calcific stippling" EXACT [] xref: UMLS:C1849993 is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002833 name: Cystic angiomatosis of bone def: "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping." [https://orcid.org/0000-0002-0736-9199, PMID:11930062] comment: The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs. synonym: "Lytic cystic lesions in appendicular bones" EXACT [] xref: UMLS:C4021749 is_a: HP:0012062 ! Bone cyst [Term] id: HP:0002834 name: Flared femoral metaphysis synonym: "Flared metaphysis of thigh bone" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025674 is_a: HP:0006489 ! Abnormal femoral metaphysis morphology is_a: HP:0030307 ! Flared lower limb metaphysis [Term] id: HP:0002835 name: Aspiration def: "Inspiration of a foreign object into the airway." [https://orcid.org/0000-0002-0736-9199] synonym: "Pulmonary aspiration" RELATED [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:413585005 xref: SNOMEDCT_US:68052005 xref: UMLS:C0700198 xref: UMLS:C2712334 is_a: HP:0002795 ! Abnormal respiratory system physiology [Term] id: HP:0002836 name: Bladder exstrophy def: "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately. synonym: "Ectopia vesicae" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:61758007 xref: UMLS:C0005689 is_a: HP:0025487 ! Abnormal bladder morphology is_a: HP:0100548 ! Exstrophy [Term] id: HP:0002837 name: Recurrent bronchitis alt_id: HP:0002785 def: "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [https://orcid.org/0000-0002-0736-9199, ISBN:0199747725, PMID:28261574] synonym: "Bronchitis, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0741796 is_a: HP:0002783 ! Recurrent lower respiratory tract infections is_a: HP:0012387 ! Bronchitis is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0002839 name: Urinary bladder sphincter dysfunction alt_id: HP:0000018 def: "Abnormal function of a sphincter of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Sphincter disturbance" EXACT [] synonym: "Sphincter disturbances" EXACT [] xref: UMLS:C1843663 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0002840 name: Lymphadenitis def: "Inflammation of a lymph node." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of the lymph nodes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:19471005 xref: UMLS:C0024205 is_a: HP:0002733 ! Abnormal lymph node morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0002841 name: Recurrent fungal infections alt_id: HP:0005350 alt_id: HP:0005380 alt_id: HP:0005388 def: "Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent fungal infections" EXACT layperson [] xref: UMLS:C1844384 is_a: HP:0002719 ! Recurrent infections is_a: HP:0020100 ! Unusual fungal infection [Term] id: HP:0002842 name: Recurrent Burkholderia cepacia infections def: "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025673 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002843 name: Abnormal T cell morphology alt_id: HP:0002734 alt_id: HP:0030332 def: "Abnormal increase or decrease of total or subset T cell count. T cells are commonly characterized as CD3+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo. These may include both TCR alpha/beta and gamma/delta T cells." [https://orcid.org/0000-0002-0736-9199] comment: T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity. synonym: "Abnormal T cells" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of T cells" EXACT [] synonym: "Cellular immune defect" EXACT [] synonym: "Defective cellular immunity" EXACT [] xref: UMLS:C1855752 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0002845 name: obsolete Increased proportion of peripheral CD3+ T cells is_obsolete: true replaced_by: HP:0002851 [Term] id: HP:0002846 name: Abnormal B cell morphology def: "A structural abnormality of B cells." [https://orcid.org/0000-0002-0736-9199, PMID:18725575] comment: B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. synonym: "Abnormal B cells" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of B cells" EXACT [] xref: UMLS:C4021748 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0002847 name: Impaired memory B cell generation def: "Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025672 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002848 name: Decreased specific anti-polysaccharide antibody level def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides." [https://orcid.org/0000-0002-0736-9199] comment: Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus. synonym: "Depressed antibody response to polysaccharide antigens" EXACT [] synonym: "Low specific anti-polysaccharide antibody titer" EXACT [] synonym: "Specific anti-polysaccharide antibody deficiency" EXACT [] xref: UMLS:C4021747 is_a: HP:0012475 ! Decreased circulating level of specific antibody [Term] id: HP:0002849 name: Absence of lymph node germinal center def: "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of lymph node germinal centre" EXACT uk_spelling [] synonym: "Lymph nodes lack germinal center" EXACT [] synonym: "Lymph nodes lack germinal centre" EXACT uk_spelling [] synonym: "Lymphoid germinal center defect" EXACT [] synonym: "Lymphoid germinal centre defect" EXACT uk_spelling [] xref: UMLS:C1847383 is_a: HP:0002733 ! Abnormal lymph node morphology [Term] id: HP:0002850 name: Decreased circulating total IgM alt_id: HP:0003147 alt_id: HP:0005385 def: "An abnormally decreased level of immunoglobulin M (IgM) in blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased IgM" EXACT [] synonym: "Decreased IgM level" EXACT [] synonym: "IgM deficiency" EXACT [] synonym: "Reduced IgM levels" EXACT [] xref: UMLS:C0239989 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration is_a: HP:0410243 ! Abnormal circulating IgM concentration [Term] id: HP:0002851 name: Elevated double-negative T cell proportion alt_id: HP:0002845 def: "Abnormal increase of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population." [] synonym: "Elevated proportion of CD4-negative, CD8-negative T cells" EXACT [] synonym: "Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors" EXACT [] xref: UMLS:C1858973 is_a: HP:0031399 ! Abnormal double-negative T cell proportion [Term] id: HP:0002853 name: Increased HLA DR+ CD4+ T cell proportion def: "Abnormal increase of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group." [PMID:11531958] comment: HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation. synonym: "Increased HLA DR+ T cell proportion" EXACT [] synonym: "Increased proportion of HLA DR+ T cells" EXACT [] xref: UMLS:C1858974 is_a: HP:0025840 ! Abnormal HLA DR+ CD4+ T cell proportion [Term] id: HP:0002857 name: Genu valgum alt_id: HP:0004999 def: "The legs angle inward, such that the knees are close together and the ankles far apart." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Genu valga" EXACT [] synonym: "Genu valgus" EXACT [] synonym: "Genua valga" EXACT [] synonym: "Knee joint valgus deformity" EXACT [] synonym: "Knock knees" EXACT layperson [] xref: MEDDRA:10023480 "Knock-knee" xref: SNOMEDCT_US:299330008 xref: UMLS:C0576093 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0034669 ! Abnormal knee morphology [Term] id: HP:0002858 name: Meningioma alt_id: HP:0006754 def: "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater." [https://orcid.org/0000-0002-0736-9199] synonym: "Noncancerous growth of membranes covering brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: NCIT:C3230 xref: UMLS:C0025286 is_a: HP:0010651 ! Abnormal meningeal morphology is_a: HP:0100835 ! Benign neoplasm of the central nervous system [Term] id: HP:0002859 name: Rhabdomyosarcoma xref: NCIT:C3359 xref: SNOMEDCT_US:302847003 xref: SNOMEDCT_US:30924005 xref: UMLS:C0035412 is_a: HP:0009728 ! Neoplasm of striated muscle is_a: HP:0030448 ! Soft tissue sarcoma [Term] id: HP:0002860 name: Squamous cell carcinoma def: "The presence of squamous cell carcinoma of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Squamous cell cancer" BROAD [https://orcid.org/0000-0001-6908-9849] xref: NCIT:C2929 xref: SNOMEDCT_US:28899001 xref: SNOMEDCT_US:402815007 xref: UMLS:C0007137 xref: UMLS:C0751688 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002861 name: Melanoma alt_id: HP:0002887 alt_id: HP:0006777 alt_id: HP:0007474 def: "The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)." [https://orcid.org/0000-0002-0736-9199] comment: A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis. synonym: "Cancer of skin pigment cells" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Malignant melanoma" EXACT [] synonym: "Skin cancer (melanoma)" BROAD layperson [] xref: NCIT:C3224 xref: SNOMEDCT_US:2092003 xref: SNOMEDCT_US:372244006 xref: UMLS:C0025202 is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0002862 name: Bladder carcinoma def: "The presence of a carcinoma of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C2916 xref: SNOMEDCT_US:255108000 xref: UMLS:C0699885 is_a: HP:0009725 ! Bladder neoplasm [Term] id: HP:0002863 name: Myelodysplasia alt_id: HP:0004832 alt_id: HP:0006730 def: "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic myelodysplasia" RELATED [] synonym: "Myelodysplastic syndrome" EXACT [] xref: SNOMEDCT_US:109995007 xref: SNOMEDCT_US:128623006 xref: SNOMEDCT_US:188736006 xref: UMLS:C1851971 xref: UMLS:C3463824 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0002864 name: Paraganglioma of head and neck synonym: "Paragangliomas, head and neck" EXACT [] xref: UMLS:C1333944 is_a: HP:0002668 ! Paraganglioma [Term] id: HP:0002865 name: Medullary thyroid carcinoma def: "The presence of a medullary carcinoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Medullary thyroid cancer" BROAD [https://orcid.org/0000-0001-6908-9849] xref: NCIT:C3879 xref: SNOMEDCT_US:128916007 xref: SNOMEDCT_US:255032005 xref: UMLS:C0238462 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002866 name: Hypoplastic iliac wing alt_id: HP:0003169 alt_id: HP:0003181 alt_id: HP:0008837 def: "Underdevelopment of the ilium ala." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic iliac alae" EXACT [] synonym: "Hypoplastic iliac wings" EXACT [] synonym: "Small iliac wings" EXACT [] xref: UMLS:C1865027 is_a: HP:0000946 ! Hypoplastic ilia is_a: HP:0011867 ! Abnormal iliac wing morphology [Term] id: HP:0002867 name: Abnormal ilium morphology def: "An abnormality of the ilium, the largest and uppermost bone of the pelvis." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the ilium" EXACT [] synonym: "Iliac abnormalities" EXACT [] xref: UMLS:C4021746 is_a: HP:0003272 ! Abnormal hip bone morphology [Term] id: HP:0002868 name: Narrow iliac wing def: "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Narrow iliac wings" EXACT plural_form [] xref: UMLS:C1836688 is_a: HP:0011867 ! Abnormal iliac wing morphology [Term] id: HP:0002869 name: Flared iliac wing def: "Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing." [https://orcid.org/0000-0002-0736-9199, PMID:28744080] comment: See Figure 4A of PMID:28744080. subset: hposlim_core synonym: "Flared iliac wings" EXACT plural_form [] xref: UMLS:C1865841 is_a: HP:0011867 ! Abnormal iliac wing morphology [Term] id: HP:0002870 name: Obstructive sleep apnea def: "Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction." [PMID:35609941] synonym: "Obstructive sleep apnoea" RELATED [] xref: SNOMEDCT_US:78275009 xref: UMLS:C0520679 is_a: HP:0010535 ! Sleep apnea property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0002871 name: Central apnea def: "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [https://orcid.org/0000-0002-0736-9199] synonym: "Central apnoea" EXACT [] xref: UMLS:C0520680 is_a: HP:0002104 ! Apnea [Term] id: HP:0002872 name: Apneic episodes precipitated by illness, fatigue, stress def: "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic apnea induced by febrile illness or stress" EXACT [] xref: UMLS:C3806462 is_a: HP:0002104 ! Apnea [Term] id: HP:0002875 name: Exertional dyspnea def: "Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest." [PMID:29763022] synonym: "Exertional breathlessness" EXACT layperson [] synonym: "Exertional dyspnoea" EXACT uk_spelling [] synonym: "Shortness of breathing upon physical activity" EXACT layperson [] xref: SNOMEDCT_US:60845006 xref: UMLS:C0231807 is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002876 name: Episodic tachypnea alt_id: HP:0002881 def: "Episodes of very rapid breathing." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperpnea, episodic" EXACT [] xref: UMLS:C3806218 is_a: HP:0002789 ! Tachypnea [Term] id: HP:0002877 name: Nocturnal hypoventilation def: "An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide." [PMID:20308760] synonym: "Hypoventilation during sleep" EXACT [] synonym: "Nocturnal hypopnea" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Nocturnal slow breathing" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Nocturnal under breathing" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1843643 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0002878 name: Respiratory failure alt_id: HP:0004877 def: "A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [https://orcid.org/0000-0002-0736-9199] comment: Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). synonym: "Respiratory failure" EXACT layperson [] xref: SNOMEDCT_US:409622000 xref: UMLS:C1145670 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002879 name: Anisospondyly def: "Abnormally increased variability of the size of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857101 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002880 name: obsolete Respiratory difficulties is_obsolete: true replaced_by: HP:0002098 [Term] id: HP:0002882 name: Sudden episodic apnea def: "Recurrent bouts of sudden, severe apnea that may be life-threatening." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025671 is_a: HP:0002104 ! Apnea [Term] id: HP:0002883 name: Hyperventilation def: "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide." [https://orcid.org/0000-0002-0736-9199] synonym: "Rapid breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:68978004 xref: UMLS:C0020578 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002884 name: Hepatoblastoma def: "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts." [eMedicine:986802, https://orcid.org/0000-0002-0736-9199] comment: Hepatoblastoma occurs nearly exclusively in infants and children. xref: NCIT:C3728 xref: SNOMEDCT_US:109843000 xref: SNOMEDCT_US:45024009 xref: UMLS:C0206624 is_a: HP:0002896 ! Neoplasm of the liver is_a: HP:0002898 ! Embryonal neoplasm [Term] id: HP:0002885 name: Medulloblastoma def: "A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults." [https://orcid.org/0000-0002-0736-9199] comment: Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors. xref: NCIT:C3222 xref: SNOMEDCT_US:443333004 xref: SNOMEDCT_US:83217000 xref: UMLS:C0025149 is_a: HP:0100836 ! Malignant neoplasm of the central nervous system [Term] id: HP:0002886 name: Vagal paraganglioma def: "A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve." [https://orcid.org/0000-0002-0736-9199, PMID:17268589] synonym: "Glomus vagale paraganglioma" RELATED [] synonym: "Glomus vagale tumor" EXACT [] synonym: "Glomus vagale tumour" EXACT uk_spelling [] synonym: "Vagal nerve tumors" EXACT [] synonym: "Vagal nerve tumours" EXACT uk_spelling [] xref: SNOMEDCT_US:253030004 xref: UMLS:C0474819 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0002888 name: Ependymoma def: "The presence of an ependymoma of the central nervous system." [https://orcid.org/0000-0002-0736-9199] comment: According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign. xref: NCIT:C3017 xref: SNOMEDCT_US:443643007 xref: SNOMEDCT_US:57706008 xref: UMLS:C0014474 is_a: HP:0009733 ! Glioma [Term] id: HP:0002890 name: Thyroid carcinoma def: "The presence of a carcinoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C2916 xref: UMLS:C0549473 is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0002891 name: Uterine leiomyosarcoma def: "The presence of a leiomyosarcoma of the uterus." [https://orcid.org/0000-0002-0736-9199] comment: Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. xref: NCIT:C3158 xref: SNOMEDCT_US:447389009 xref: UMLS:C0280631 is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0100243 ! Leiomyosarcoma [Term] id: HP:0002893 name: Pituitary adenoma def: "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary)." [https://orcid.org/0000-0002-0538-4547, PMID:32119338] comment: In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. Pituitary adenoma can be described as microadenoma, macroadenoma, and giant tumors based on size. Microadenoma is a tumor less than 10 mm, while macroadenoma describes a tumor larger than 10mm. Giant pituitary tumors are bigger than 40 mm. synonym: "Noncancerous tumor in pituitary gland" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Noncancerous tumour in pituitary gland" EXACT uk_spelling [] synonym: "Pituitary gland adenoma" EXACT [] xref: ICD-O:M8272/0 "Pituitary adenoma" xref: NCIT:C2855 xref: SNOMEDCT_US:128664001 xref: SNOMEDCT_US:254956000 xref: UMLS:C0032000 is_a: HP:0011750 ! Neoplasm of the anterior pituitary [Term] id: HP:0002894 name: Neoplasm of the pancreas alt_id: HP:0004511 def: "A tumor (abnormal growth of tissue) of the pancreas." [https://orcid.org/0000-0002-0736-9199] synonym: "Cancer of the pancreas" BROAD layperson [] synonym: "increased risk of pancreatic cancer" RELATED layperson [] synonym: "Neoplasia of the pancreas" EXACT [] synonym: "Pancreatic cancer" BROAD layperson [] synonym: "Pancreatic tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pancreatic tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126859007 xref: SNOMEDCT_US:363418001 xref: UMLS:C0030297 xref: UMLS:C0346647 xref: UMLS:C1842408 is_a: HP:0001732 ! Abnormality of the pancreas is_a: HP:0034930 ! Digestive system neoplasm [Term] id: HP:0002895 name: Papillary thyroid carcinoma def: "The presence of a papillary adenocarcinoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Papillary carcinoma of thyroid" EXACT [] synonym: "Thyroid papillary carcinoma" EXACT [] xref: NCIT:C2853 xref: SNOMEDCT_US:255029007 xref: UMLS:C0238463 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002896 name: Neoplasm of the liver def: "A tumor (abnormal growth of tissue) of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Liver cancer" EXACT layperson [] synonym: "Liver tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Liver tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126851005 xref: SNOMEDCT_US:93870000 xref: UMLS:C0023903 xref: UMLS:C0345904 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0002897 name: Parathyroid adenoma alt_id: HP:0008257 def: "A benign tumor of the parathyroid gland that can cause hyperparathyroidism." [https://orcid.org/0000-0002-0736-9199] synonym: "Parathyroid adenomas" EXACT [] xref: ICD-10:D35.1 "Benign neoplasm: Parathyroid gland" xref: NCIT:C2855 xref: SNOMEDCT_US:128474007 xref: UMLS:C0262587 is_a: HP:0100733 ! Neoplasm of the parathyroid gland [Term] id: HP:0002898 name: Embryonal neoplasm synonym: "Embryonal neoplasia" EXACT [] synonym: "Embryonal tumors" EXACT [] synonym: "Embryonal tumours" EXACT uk_spelling [] xref: UMLS:C0027654 is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0002900 name: Hypokalemia def: "An abnormally decreased potassium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood potassium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:166690008 xref: SNOMEDCT_US:43339004 xref: UMLS:C0020621 is_a: HP:0011042 ! Abnormal circulating potassium concentration [Term] id: HP:0002901 name: Hypocalcemia def: "An abnormally decreased calcium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypocalcaemia" EXACT [] synonym: "Low blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:5291005 xref: UMLS:C0020598 is_a: HP:0004363 ! Abnormal circulating calcium concentration [Term] id: HP:0002902 name: Hyponatremia def: "An abnormally decreased sodium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood sodium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:89627008 xref: UMLS:C0020625 is_a: HP:0010931 ! Abnormal blood sodium concentration [Term] id: HP:0002904 name: Hyperbilirubinemia def: "An increased amount of bilirubin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood bilirubin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:26165005 xref: UMLS:C0311468 is_a: HP:0033479 ! Abnormal circulating bilirubin concentration [Term] id: HP:0002905 name: Hyperphosphatemia def: "An abnormally increased phosphate concentration in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "High blood phosphate levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:20165001 xref: UMLS:C0085681 xref: UMLS:C0553706 is_a: HP:0100529 ! Abnormal blood phosphate concentration [Term] id: HP:0002907 name: Microscopic hematuria def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [https://orcid.org/0009-0006-4530-3154] synonym: "Microhematuria" EXACT [] synonym: "Occult hematuria" EXACT [] synonym: "Small amount of blood in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:197940006 xref: UMLS:C0239937 is_a: HP:0000790 ! Hematuria [Term] id: HP:0002908 name: Conjugated hyperbilirubinemia alt_id: HP:0008351 synonym: "Direct hyperbilirubinemia" EXACT [] xref: SNOMEDCT_US:9326001 xref: UMLS:C0268307 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0002909 name: Generalized aminoaciduria alt_id: HP:0008284 alt_id: HP:0008317 def: "An increased concentration of all types of amino acid in the urine." [https://orcid.org/0000-0002-0736-9199] comment: This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased. synonym: "Generalised aminoaciduria" EXACT uk_spelling [] synonym: "Generalised nonspecific aminoaciduria" EXACT uk_spelling [] synonym: "Generalized nonspecific aminoaciduria" EXACT [] xref: UMLS:C1847868 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0002910 name: Elevated circulating hepatic transaminase concentration alt_id: HP:0001411 alt_id: HP:0003143 alt_id: HP:0003156 alt_id: HP:0003293 alt_id: HP:0006567 alt_id: HP:0006578 alt_id: HP:0008267 alt_id: HP:0008342 def: "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal liver enzymes" EXACT [] synonym: "Abnormal liver function" EXACT [] synonym: "Abnormal liver function tests" EXACT [] synonym: "Elevated circulating hepatic transaminase activity" EXACT [] synonym: "Elevated liver enzymes" EXACT [] synonym: "Elevated liver function tests" RELATED [] synonym: "Elevated serum transaminases" EXACT [] synonym: "Elevated transaminases" EXACT [] synonym: "High liver enzymes" EXACT layperson [] synonym: "Increased liver enzymes" EXACT [] synonym: "Increased liver function tests" EXACT [] synonym: "Increased transaminases" EXACT [] synonym: "Raised liver enzymes" EXACT [] synonym: "Subclinical abnormal liver function tests" EXACT [] xref: SNOMEDCT_US:166603001 xref: SNOMEDCT_US:166643006 xref: SNOMEDCT_US:75183008 xref: UMLS:C0086565 xref: UMLS:C0151766 xref: UMLS:C0235996 xref: UMLS:C0438237 xref: UMLS:C0438717 xref: UMLS:C0877359 xref: UMLS:C1842003 xref: UMLS:C1848701 is_a: HP:0430135 ! Abnormal circulating hepatic transaminase concentration [Term] id: HP:0002912 name: Methylmalonic acidemia alt_id: HP:0003123 alt_id: HP:0008295 def: "Increased concentration of methylmalonic acid in the blood." [https://orcid.org/0000-0002-0736-9199, PMID:26101005] comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. synonym: "Elevated circulating methylmalonic acid concentration" EXACT [] xref: SNOMEDCT_US:42393006 xref: UMLS:C0268583 is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration is_a: HP:0032368 ! Acidemia [Term] id: HP:0002913 name: Myoglobinuria def: "Presence of myoglobin in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction. xref: SNOMEDCT_US:48165008 xref: UMLS:C0027080 is_a: HP:0033354 ! Abnormal urine metabolite level [Term] id: HP:0002914 name: Hyperchloriduria def: "An increased concentration of chloride in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urinary chloride" EXACT layperson [] xref: UMLS:C1846352 is_a: HP:0012600 ! Abnormal urine chloride concentration [Term] id: HP:0002916 name: Abnormality of chromosome segregation def: "An abnormality of chromosome segregation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025670 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0002917 name: Hypomagnesemia alt_id: HP:0003284 def: "An abnormally decreased magnesium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood magnesium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Low blood Mg levels" EXACT abbreviation [] xref: SNOMEDCT_US:190855004 xref: UMLS:C0151723 is_a: HP:0004921 ! Abnormal magnesium concentration [Term] id: HP:0002918 name: Hypermagnesemia def: "An abnormally increased magnesium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood magnesium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "High blood Mg levels" EXACT abbreviation [] xref: SNOMEDCT_US:66978005 xref: UMLS:C0151714 is_a: HP:0004921 ! Abnormal magnesium concentration [Term] id: HP:0002919 name: Ketonuria def: "High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state." [https://orcid.org/0000-0002-0736-9199, PMID:11344564] comment: Acetone is the main component of the ketone bodies. synonym: "Acetonuria" RELATED [] synonym: "Ketoaciduria" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Ketonaciduria" EXACT [] synonym: "Ketone bodies in urine" EXACT [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:274783007 xref: SNOMEDCT_US:36815008 xref: UMLS:C0162275 is_a: HP:0033354 ! Abnormal urine metabolite level [Term] id: HP:0002920 name: Decreased circulating ACTH concentration def: "The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025669 is_a: HP:0011043 ! Abnormal circulating adrenocorticotropin concentration [Term] id: HP:0002921 name: Abnormal cerebrospinal fluid morphology def: "An abnormality of the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0002-0736-9199] comment: The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). synonym: "Abnormal CSF findings" EXACT abbreviation [] synonym: "Abnormality of the cerebrospinal fluid" EXACT [] synonym: "Abnormality of the CSF" EXACT abbreviation [] xref: UMLS:C0151583 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002922 name: Increased CSF protein concentration def: "Increased concentration of protein in the cerebrospinal fluid." [HPO_CONTRIBUTOR:KI_phemming, PMID:29114301] synonym: "Cerebrospinal fluid protein increased" EXACT [] synonym: "Cerebrospinal fluid with increased protein" EXACT [] synonym: "Elevated cerebrospinal fluid protein" EXACT [] synonym: "Elevated csf protein" EXACT [] synonym: "Hyperproteinorrhachia" EXACT [] synonym: "Increased CSF protein" EXACT [] synonym: "Increased protein in csf" EXACT [] synonym: "Spinal fluid protein elevated" EXACT [] xref: UMLS:C1806780 is_a: HP:0025456 ! Abnormal CSF protein concentration [Term] id: HP:0002923 name: Rheumatoid factor positive def: "The presence in the serum of an autoantibody directed against the Fc portion of IgG." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:165839004 xref: UMLS:C0151379 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0002924 name: obsolete Decreased circulating aldosterone level is_obsolete: true replaced_by: HP:0004319 [Term] id: HP:0002925 name: Elevated circulating thyroid-stimulating hormone concentration def: "Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation." [https://orcid.org/0000-0002-0538-4547] synonym: "Elevated thyroid stimulating hormone" EXACT [] synonym: "Elevated thyroid stimulating hormone levels" EXACT [] synonym: "High TSH" EXACT abbreviation [] synonym: "Increased serum thyroid-stimulating hormone" EXACT [] synonym: "Increased thyroid-stimulating hormone" EXACT [] synonym: "Increased thyroid-stimulating hormone level" EXACT [] synonym: "Increased thyrotropin level" EXACT [] synonym: "Thyroid-stimulating hormone excess" EXACT [] synonym: "TSH excess" EXACT abbreviation [] xref: SNOMEDCT_US:309080005 xref: UMLS:C0586553 is_a: HP:0031097 ! Abnormal thyroid-stimulating hormone level [Term] id: HP:0002926 name: Abnormality of thyroid physiology def: "An abnormal functionality of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal thyroid function" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0857576 is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0002927 name: Histidinuria alt_id: HP:0010905 def: "An increased concentration of histidine in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447] comment: Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours. synonym: "Elevated histidine in urine" EXACT [] synonym: "High urine histidine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:78311009 xref: UMLS:C0268642 is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine [Term] id: HP:0002928 name: Decreased activity of the pyruvate dehydrogenase complex synonym: "Decreased activity of the PDH complex" EXACT [] synonym: "Pyruvate dehydrogenase complex deficiency" EXACT [] xref: UMLS:C1839888 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0002929 name: Leydig cell insensitivity to gonadotropin xref: UMLS:C4025668 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0002930 name: Impaired sensitivity to thyroid hormone alt_id: HP:0008215 alt_id: HP:0008243 alt_id: HP:0008262 def: "Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone." [https://orcid.org/0000-0002-0538-4547, PMID:24847459] comment: Impaired sensitivity to thyroid hormone may be accompanied by goiter and no clear symptoms and signs of thyrotoxicosis. The etiologies of this feature include defects in the thyroid hormone receptor, reduced cellular access of the biologically active thyroid hormone, T3 related to defects of thyroid hormone cell membrane transport, and a defect reducing the intracellular metabolism generating T3 from T4. synonym: "Elevated serum levels of free thyroid hormone with nonsuppressed TSH" EXACT [] synonym: "End-organ unresponsiveness to thyroid hormone" EXACT [] synonym: "Resistance to thyroid hormone" EXACT [] synonym: "Thyroid hormone receptor defect" EXACT [] synonym: "Thyroid hormone resistance" EXACT [] xref: SNOMEDCT_US:111567006 xref: SNOMEDCT_US:237559000 xref: SNOMEDCT_US:237560005 xref: SNOMEDCT_US:50375007 xref: UMLS:C2940786 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0002932 name: Aldehyde oxidase deficiency def: "A reduction in aldehyde oxidase level." [https://orcid.org/0000-0002-0736-9199] comment: Aldehyde oxidase generates carboxylic acids from aldehydes. xref: SNOMEDCT_US:124161002 xref: UMLS:C1291266 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0002933 name: Ventral hernia def: "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:414396006 xref: UMLS:C0019326 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0002936 name: Distal sensory impairment alt_id: HP:0003476 alt_id: HP:0006843 alt_id: HP:0006845 alt_id: HP:0006922 alt_id: HP:0006971 alt_id: HP:0006993 alt_id: HP:0007138 alt_id: HP:0007292 alt_id: HP:0007296 def: "An abnormal reduction in sensation in the distal portions of the extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased distal sensation" EXACT [] synonym: "Decreased sensation in extremities" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Distal sensation loss" EXACT [] synonym: "Distal sensory impairment in lower limbs" EXACT [] synonym: "Distal sensory impairment of the lower extremities" EXACT [] synonym: "Distal sensory loss" EXACT [] synonym: "Distal sensory loss, upper and lower limbs" EXACT [] synonym: "Loss of distal sensation" EXACT [] xref: UMLS:C1847584 is_a: HP:0003474 ! Somatic sensory dysfunction [Term] id: HP:0002937 name: Hemivertebrae def: "Absence of one half of the vertebral body." [https://orcid.org/0000-0002-0736-9199] comment: Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. subset: hposlim_core synonym: "Hemi-vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hemivertebra" EXACT [] synonym: "Missing part of vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:68359008 xref: UMLS:C0265677 is_a: HP:0003312 ! Abnormal form of the vertebral bodies is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0002938 name: Lumbar hyperlordosis alt_id: HP:0002941 alt_id: HP:0004560 alt_id: HP:0004574 alt_id: HP:0004596 def: "An abnormal accentuation of the inward curvature of the spine in the lumbar region." [https://orcid.org/0000-0002-0736-9199] synonym: "Exaggerated lumbar lordosis" EXACT [] synonym: "Excessive inward curvature of lower spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Increased lumbar lordosis" EXACT [] synonym: "Lumbar lordosis" EXACT [] synonym: "Prominent lumbar lordosis" EXACT [] xref: UMLS:C1184923 is_a: HP:0003307 ! Hyperlordosis [Term] id: HP:0002942 name: Thoracic kyphosis def: "Over curvature of the thoracic region, leading to a round back or if sever to a hump." [https://orcid.org/0000-0002-0736-9199] synonym: "Accentuated thoracic kyphosis" EXACT [] synonym: "Exaggerated thoracic kyphosis" EXACT [] xref: UMLS:C1184919 is_a: HP:0002808 ! Kyphosis is_a: HP:0100711 ! Abnormal thoracic spine morphology [Term] id: HP:0002943 name: Thoracic scoliosis alt_id: HP:0004615 xref: UMLS:C1857790 is_a: HP:0002650 ! Scoliosis is_a: HP:0100711 ! Abnormal thoracic spine morphology [Term] id: HP:0002944 name: Thoracolumbar scoliosis alt_id: HP:0004567 alt_id: HP:0004585 synonym: "Scoliosis, thoracolumbar" EXACT [] xref: UMLS:C0749379 is_a: HP:0002650 ! Scoliosis [Term] id: HP:0002945 name: Intervertebral space narrowing def: "Decreased height of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199] comment: A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. synonym: "Narrow intervertebral disc spaces" EXACT uk_spelling [] synonym: "Narrow intervertebral disk spaces" EXACT [] synonym: "Narrow intervertebral spaces" EXACT [] xref: SNOMEDCT_US:11301007 xref: UMLS:C0263870 is_a: HP:0005108 ! Abnormal intervertebral disk morphology [Term] id: HP:0002946 name: Supernumerary vertebrae xref: SNOMEDCT_US:87294007 xref: UMLS:C0265681 is_a: HP:0009144 ! Supernumerary bones of the axial skeleton is_a: HP:0030304 ! Abnormal number of vertebrae [Term] id: HP:0002947 name: Cervical kyphosis def: "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Rounded neck" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:298393001 xref: UMLS:C0575170 is_a: HP:0002808 ! Kyphosis is_a: HP:0005905 ! Abnormal cervical curvature [Term] id: HP:0002948 name: Vertebral fusion alt_id: HP:0002807 alt_id: HP:0008471 alt_id: HP:0008485 def: "A developmental defect leading to the union of two adjacent vertebrae." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Congenital spinal fusion" EXACT [] synonym: "Congenitally fused vertebrae" EXACT [] synonym: "Fusion of vertebral bodies" EXACT [] synonym: "Vertebral body fusion" EXACT [] xref: UMLS:C1835763 xref: UMLS:C1849073 xref: UMLS:C3278509 is_a: HP:0003422 ! Vertebral segmentation defect is_a: HP:0100240 ! Synostosis of joints [Term] id: HP:0002949 name: Fused cervical vertebrae def: "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another." [] synonym: "Cervical spine fusion" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Cervical vertebral fusion" EXACT [] synonym: "Fused neck" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Fusion of cervical vertebrae" EXACT [] xref: UMLS:C3887527 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0002951 name: Partial absence of cerebellar vermis def: "Congenital absence of a part of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025667 is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0002953 name: Vertebral compression fracture synonym: "Compression fracture of a vertebral body" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Fractures of vertebral bodies" EXACT [] synonym: "Vertebral body compression" EXACT [] synonym: "Vertebral collapse" EXACT [] synonym: "Vertebral compression" EXACT [] synonym: "Vertebral compression fractures" EXACT plural_form [] synonym: "Vertebral compression or collapse" EXACT [] xref: SNOMEDCT_US:42942008 xref: SNOMEDCT_US:84138006 xref: UMLS:C0262431 xref: UMLS:C0410550 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0002955 name: Granulomatosis def: "A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity." [https://orcid.org/0000-0002-0736-9199, PMID:10908370, PMID:937513] comment: This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). xref: SNOMEDCT_US:443138004 xref: SNOMEDCT_US:44328006 xref: UMLS:C0521173 is_a: HP:0004311 ! Abnormal macrophage morphology [Term] id: HP:0002958 name: Immune dysregulation def: "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications." [PMID:26233425] synonym: "Immune dysregulation" EXACT layperson [] synonym: "Unregulated immune response" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1844666 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002959 name: Impaired Ig class switch recombination def: "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE." [https://orcid.org/0000-0002-0736-9199, PMID:11544001] comment: The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE. synonym: "Impaired B-lymphocyte isotype switching" EXACT [] xref: UMLS:C1842528 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002960 name: Autoimmunity def: "The occurrence of an immune reaction against the organism's own cells or tissues." [https://orcid.org/0000-0002-0736-9199] synonym: "Autoimmune condition" EXACT [] synonym: "Autoimmune disease" EXACT layperson [] synonym: "Autoimmune disorder" EXACT layperson [] synonym: "Autoimmunity" EXACT layperson [] xref: SNOMEDCT_US:85828009 xref: UMLS:C0004364 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002961 name: Dysgammaglobulinemia def: "Selective deficiency of one or more, but not all, classes of immunoglobulins." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:123782009 xref: UMLS:C0013374 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration [Term] id: HP:0002963 name: Abnormal delayed hypersensitivity skin test def: "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter." [https://orcid.org/0000-0002-0736-9199] comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance. xref: UMLS:C1833172 is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0002965 name: Cutaneous anergy alt_id: HP:0005427 def: "Inability to react to a delayed hypersensitivity skin test." [https://orcid.org/0000-0002-0736-9199] comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. synonym: "Absence of delayed hypersensitivity skin test" EXACT [] synonym: "Lack of delayed skin hypersensitivity reaction" EXACT [] xref: UMLS:C1855781 is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002967 name: Cubitus valgus def: "Abnormal positioning in which the elbows are turned out." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Outward turned elbows" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:54583007 xref: UMLS:C0158465 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002970 name: Genu varum alt_id: HP:0003052 def: "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Genu vara" EXACT [] synonym: "Genua vara" EXACT [] synonym: "Outward bow-leggedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Outward bowing at knees" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:299331007 xref: UMLS:C0544755 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0034669 ! Abnormal knee morphology [Term] id: HP:0002971 name: Absent microvilli on the surface of peripheral blood lymphocytes def: "Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes." [PMID:15130947] xref: UMLS:C1833173 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0002972 name: Reduced delayed hypersensitivity alt_id: HP:0005434 def: "Decreased ability to react to a delayed hypersensitivity skin test." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased reactivity to skin test antigens" EXACT [] synonym: "Deficiency of delayed skin hypersensitivity" EXACT [] synonym: "Impaired delayed hypersensitivity" EXACT [] xref: UMLS:C1843386 is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002973 name: Abnormal forearm morphology def: "An abnormality of the lower arm." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the forearm" EXACT layperson [] xref: UMLS:C4025666 is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0002974 name: Radioulnar synostosis alt_id: HP:0003962 def: "An abnormal osseous union (fusion) between the radius and the ulna." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Fused forearm bones" EXACT layperson [] xref: MEDDRA:10037798 "Radioulnar synostosis" xref: SNOMEDCT_US:33313004 xref: UMLS:C0158761 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0040071 ! Abnormal morphology of ulna is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0002977 name: Aplasia/Hypoplasia involving the central nervous system alt_id: HP:0001323 def: "Absence or underdevelopment of tissue in the central nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/underdeveloped central nervous system tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia/Hypoplasia involving the CNS" EXACT abbreviation [] xref: UMLS:C4025665 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:13:00Z [Term] id: HP:0002979 name: Bowing of the legs alt_id: HP:0006428 def: "A bending or abnormal curvature affecting a long bone of the leg." [https://orcid.org/0000-0002-0736-9199] synonym: "Bow legs" EXACT [] synonym: "Bow-leggedness" EXACT [] synonym: "Bowed legs" EXACT layperson [] synonym: "Bowed lower limbs" EXACT layperson [] xref: SNOMEDCT_US:299331007 xref: UMLS:C0544755 is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0002980 name: Femoral bowing alt_id: HP:0004998 def: "Bowing (abnormal curvature) of the femur." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bowed femur" EXACT [] synonym: "Bowed femura" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Bowed femurs" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Bowed thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859461 is_a: HP:0002823 ! Abnormal femur morphology is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002981 name: Abnormality of the calf def: "An abnormality of the calf, i.e. of the posterior part of the lower leg." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the calf" EXACT layperson [] xref: UMLS:C4021832 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002982 name: Tibial bowing alt_id: HP:0006363 def: "A bending or abnormal curvature of the tibia." [https://orcid.org/0000-0002-0736-9199] comment: A developmental defect with posteromedial tibial angulation. subset: hposlim_core synonym: "Bowed shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bowed shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bowed tibia" EXACT [] synonym: "Bowing of the tibia" EXACT [] xref: UMLS:C1837081 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002992 ! Abnormal tibia morphology [Term] id: HP:0002983 name: Micromelia alt_id: HP:0003030 alt_id: HP:0005753 def: "The presence of abnormally small extremities." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Smaller or shorter than typical limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10027546 "Micromelia" xref: SNOMEDCT_US:74370006 xref: UMLS:C0025995 is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0002984 name: Hypoplasia of the radius alt_id: HP:0002995 alt_id: HP:0004989 alt_id: HP:0005014 alt_id: HP:0005081 alt_id: HP:0005714 alt_id: HP:0006418 def: "Underdevelopment of the radius." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic radii" EXACT [] synonym: "Hypoplastic radius" EXACT [] synonym: "Radial hypoplasia" EXACT [] synonym: "Radial ray hypoplasia" RELATED [] synonym: "Short radii" EXACT [] synonym: "Short radius" EXACT [] synonym: "Shortening of radius" EXACT [] synonym: "Underdeveloped outer large forearm bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:205170001 xref: SNOMEDCT_US:93288001 xref: UMLS:C0685381 xref: UMLS:C1840087 is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009821 ! Forearm undergrowth [Term] id: HP:0002986 name: Radial bowing alt_id: HP:0004996 def: "A bending or abnormal curvature of the radius." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bowed radii" EXACT [] synonym: "Bowed radius" EXACT [] synonym: "Bowing of outer large bone of the forearm" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Bowing of radius bone of the forearm" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1859399 is_a: HP:0003956 ! Bowed forearm bones is_a: HP:0045008 ! Abnormal shape of the radius [Term] id: HP:0002987 name: Elbow flexion contracture alt_id: HP:0003937 alt_id: HP:0004984 alt_id: HP:0005654 def: "An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position." [https://orcid.org/0000-0002-0736-9199] synonym: "Elbow flexion contractures" EXACT [] synonym: "Elbow flexion deformity" EXACT [] synonym: "Fixed flexion at the elbow joint" EXACT [] xref: SNOMEDCT_US:202271004 xref: UMLS:C0409338 is_a: HP:0002996 ! Limited elbow movement is_a: HP:0034391 ! Elbow contracture [Term] id: HP:0002990 name: Fibular aplasia alt_id: HP:0006373 def: "Absence of the fibula." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent fibulae" EXACT [] synonym: "Absent-hypoplastic fibulae" EXACT [] xref: MEDDRA:10054882 "Fibula agenesis" xref: UMLS:C1836186 is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0002991 name: Abnormal fibula morphology def: "An anomaly of the calf bone (fibula), one of the two bones of the calf." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of fibula morphology" EXACT [] synonym: "Abnormality of the calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025664 is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0002992 name: Abnormal tibia morphology def: "Abnormality of the tibia (shinbone)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the shankbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of the shinbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of tibia morphology" EXACT [] xref: UMLS:C4025663 is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0002996 name: Limited elbow movement alt_id: HP:0006395 synonym: "Decreased elbow mobility" EXACT layperson [] synonym: "Limited elbow mobility" EXACT layperson [] synonym: "Limited elbow movement" EXACT layperson [] synonym: "Restricted elbow motion" EXACT layperson [] xref: UMLS:C1849955 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002997 name: obsolete Abnormality of the ulna is_obsolete: true replaced_by: HP:0040071 [Term] id: HP:0002999 name: Patellar dislocation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [https://orcid.org/0000-0002-0736-9199] synonym: "Dislocated kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Dislocated patellae" EXACT [] synonym: "Dislocation of patella" EXACT [] xref: SNOMEDCT_US:263029007 xref: UMLS:C1135812 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0030311 ! Lower extremity joint dislocation [Term] id: HP:0003001 name: Glomus jugular tumor synonym: "Glomus jugular tumour" EXACT uk_spelling [] synonym: "Glomus jugulare tumor" EXACT [] synonym: "Glomus jugulare tumors" EXACT [] synonym: "Glomus jugulare tumour" EXACT uk_spelling [] synonym: "Glomus jugulare tumours" EXACT uk_spelling [] xref: SNOMEDCT_US:127030001 xref: SNOMEDCT_US:32037004 xref: UMLS:C0017671 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0003002 name: Breast carcinoma def: "The presence of a carcinoma of the breast." [https://orcid.org/0000-0002-0736-9199] synonym: "Breast cancer" EXACT layperson [] xref: NCIT:C2916 xref: SNOMEDCT_US:254838004 xref: UMLS:C0678222 is_a: HP:0100013 ! Neoplasm of the breast [Term] id: HP:0003003 name: Colon cancer alt_id: HP:0006718 synonym: "Colon cancer" EXACT layperson [] xref: SNOMEDCT_US:363406005 xref: UMLS:C0007102 is_a: HP:0100273 ! Neoplasm of the colon [Term] id: HP:0003005 name: Ganglioneuroma def: "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells." [https://orcid.org/0000-0002-0736-9199] comment: Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. xref: SNOMEDCT_US:116371000119107 xref: SNOMEDCT_US:128919000 xref: SNOMEDCT_US:53801007 xref: UMLS:C0017075 is_a: HP:0030450 ! Neoplasm of the autonomic nervous system [Term] id: HP:0003006 name: Neuroblastoma alt_id: HP:0006738 def: "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cancer of early nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: NCIT:C3270 xref: SNOMEDCT_US:432328008 xref: SNOMEDCT_US:87364003 xref: UMLS:C0027819 is_a: HP:0004376 ! Neuroblastic tumor is_a: HP:0030067 ! Peripheral primitive neuroectodermal neoplasm [Term] id: HP:0003009 name: Enhanced neurotoxicity of vincristine xref: UMLS:C4025661 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003010 name: Prolonged bleeding time alt_id: HP:0008294 alt_id: HP:0008337 def: "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding." [https://orcid.org/0000-0002-5523-511X] comment: The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. synonym: "Increased bleeding time" EXACT [] synonym: "Prolonged bleeding time" EXACT layperson [] xref: UMLS:C0151529 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0003011 name: Abnormality of the musculature alt_id: HP:0003197 alt_id: HP:0003708 alt_id: HP:0040290 def: "Abnormality originating in one or more muscles, i.e., of the set of muscles of body." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscular abnormality" EXACT layperson [] xref: UMLS:C4021745 is_a: HP:0033127 ! Abnormality of the musculoskeletal system [Term] id: HP:0003013 name: Bulging epiphyses def: "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)." [https://orcid.org/0000-0002-0736-9199] synonym: "Bulging end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1833329 is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003015 name: Flared metaphysis alt_id: HP:0000945 alt_id: HP:0003047 alt_id: HP:0004994 alt_id: HP:0005015 alt_id: HP:0005095 alt_id: HP:0200002 def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones." [https://orcid.org/0000-0002-0736-9199, PMID:12853662] comment: Figure 11 of PMID:12853662 shows metaphyseal flaring. synonym: "Flared wide portion of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flared, widened metaphyses" EXACT [] synonym: "marked metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal flaring" EXACT [] synonym: "Metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal splaying" EXACT [] synonym: "Metaphyses flared" EXACT [] synonym: "Splayed metaphyses" EXACT [] xref: UMLS:C1850135 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0003016 name: Metaphyseal widening alt_id: HP:0005074 def: "Abnormal widening of the metaphyseal regions of long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad wide portion of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide metaphyses" EXACT [] synonym: "Widened long bone metaphyses" EXACT [] synonym: "Widened metaphyses" EXACT [] xref: UMLS:C1849039 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0003019 name: Abnormality of the wrist alt_id: HP:0001224 def: "Abnormality of the wrist, the structure connecting the hand and the forearm." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormalities of the wrists" EXACT layperson [] synonym: "Abnormality of the wrist" EXACT layperson [] xref: UMLS:C4021744 is_a: HP:0009810 ! Abnormality of upper limb joint [Term] id: HP:0003020 name: Enlargement of the wrists synonym: "Enlargement of the wrists" EXACT layperson [] xref: UMLS:C1838663 is_a: HP:0025798 ! Abnormal wrist morphology [Term] id: HP:0003021 name: Metaphyseal cupping def: "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1837082 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0003022 name: Hypoplasia of the ulna alt_id: HP:0002998 alt_id: HP:0005842 alt_id: HP:0006388 alt_id: HP:0006444 def: "Underdevelopment of the ulna." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic ulna" EXACT [] synonym: "Short ulna" EXACT [] synonym: "Short ulnae" EXACT [] synonym: "Ulnar hypoplasia" EXACT [] synonym: "Underdeveloped inner large forearm bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Underdeveloped ulna" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1860614 xref: UMLS:C1862132 is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna is_a: HP:0009821 ! Forearm undergrowth [Term] id: HP:0003023 name: Bowing of limbs due to multiple fractures def: "Curvature of the shafts of the long bones due to multiple fractures." [https://orcid.org/0000-0002-0736-9199] synonym: "Bowed limbs due to multiple fractures" EXACT [] xref: UMLS:C1850178 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0003025 name: Metaphyseal irregularity alt_id: HP:0003017 alt_id: HP:0004995 alt_id: HP:0005016 alt_id: HP:0005032 alt_id: HP:0005038 alt_id: HP:0005058 alt_id: HP:0005062 alt_id: HP:0005065 alt_id: HP:0005078 alt_id: HP:0005896 def: "Irregularity of the normally smooth surface of the metaphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Frayed, irregular metaphyses" EXACT [] synonym: "Frayed, irregular, metaphyses" EXACT [] synonym: "Irregular metaphyses" EXACT [] synonym: "Irregular wide portion of a long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Metaphyseal fraying" EXACT [] synonym: "Metaphyseal irregularities" EXACT [] xref: UMLS:C1838662 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0003026 name: Short long bone alt_id: HP:0000949 alt_id: HP:0004983 alt_id: HP:0004988 alt_id: HP:0005000 alt_id: HP:0005029 alt_id: HP:0005044 alt_id: HP:0005052 alt_id: HP:0005077 alt_id: HP:0005083 alt_id: HP:0005647 alt_id: HP:0005822 alt_id: HP:0006382 alt_id: HP:0006457 alt_id: HP:0006472 def: "One or more abnormally short long bone." [https://orcid.org/0000-0002-0736-9199] comment: Long bones are also known as tubular bones. synonym: "Long bone shortening" EXACT layperson [] synonym: "Short long bone" EXACT layperson [] synonym: "Short tubular bones" EXACT [] synonym: "shortened long tubular bones" EXACT [] xref: UMLS:C1854912 is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0003027 name: Mesomelia def: "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [https://orcid.org/0009-0006-4530-3154] comment: Shortening of the limbs where the predominant shortness is in the middle bones. synonym: "Disproportionately short middle portion of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Mesomelic limb shortening" EXACT [] synonym: "Mesomelic shortening of limbs" EXACT [] synonym: "Symmetric mesomelic limb shortness" EXACT [] xref: UMLS:C0549306 is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0003028 name: Abnormality of the ankle def: "An anomaly of the joint that connects the foot with the leg." [] subset: hposlim_core synonym: "Abnormality of the ankles" EXACT plural_form [] xref: UMLS:C4025660 is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0003029 name: Enlargement of the ankles synonym: "Enlargement of the ankles" EXACT layperson [] xref: UMLS:C1838664 is_a: HP:0034673 ! Abnormal ankle morphology [Term] id: HP:0003031 name: Ulnar bowing alt_id: HP:0003983 def: "Bending of the diaphysis (shaft) of the ulna." [https://orcid.org/0000-0002-0736-9199] comment: Ulnar bowing is usually in the convex posterior direction. subset: hposlim_core synonym: "Bowed ulna" EXACT [] synonym: "Curved ulna" EXACT [] synonym: "Curving of inner forearm bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1865847 is_a: HP:0003956 ! Bowed forearm bones is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003034 name: Diaphyseal sclerosis alt_id: HP:0005611 def: "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [https://orcid.org/0000-0002-0736-9199] synonym: "Craniodiaphyseal osteosclerosis" EXACT [] synonym: "Diaphyseal osteosclerosis" EXACT [] synonym: "Increased bone density in shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:318761000119105 xref: SNOMEDCT_US:34643004 xref: UMLS:C0011989 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0006392 ! Increased density of long bones [Term] id: HP:0003037 name: Enlarged joints def: "Increase in size of one or more joints." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Enlarged joints" EXACT layperson [] synonym: "Prominent joints" RELATED [] xref: UMLS:C1859111 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0003038 name: Fibular hypoplasia alt_id: HP:0002985 alt_id: HP:0005887 alt_id: HP:0006401 def: "Underdevelopment of the fibula." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic fibula" EXACT [] synonym: "Short calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short fibula" EXACT [] synonym: "Short fibulae" EXACT [] xref: UMLS:C1832119 is_a: HP:0003026 ! Short long bone is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0003040 name: Arthropathy synonym: "Disease of the joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:399269003 xref: UMLS:C0022408 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0003041 name: Humeroradial synostosis alt_id: HP:0003936 def: "An abnormal osseous union (fusion) between the radius and the humerus." [https://orcid.org/0009-0006-4530-3154] synonym: "Fusion of upper and lower arm bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Humeral radial synostosis" EXACT [] synonym: "Humeral-radial synostosis" EXACT [] synonym: "Radiohumeral synostosis of elbow" EXACT [] synonym: "Synostosis of radius and humerus" EXACT [] xref: SNOMEDCT_US:205329008 xref: UMLS:C1863360 xref: UMLS:C2930865 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003938 ! Synostosis involving the elbow is_a: HP:0031095 ! Abnormal humerus morphology is_a: HP:0100744 ! Abnormality of the humeroradial joint [Term] id: HP:0003042 name: Elbow dislocation alt_id: HP:0006411 def: "Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet." [https://orcid.org/0000-0002-0736-9199] synonym: "Dislocations of the elbows" EXACT layperson [] synonym: "Elbow dislocation" EXACT layperson [] synonym: "Elbow dislocations" EXACT layperson [] synonym: "Radiocapitellar dislocation" EXACT [] synonym: "Radiohumeral dislocation" EXACT [] synonym: "Ulnohumeral dislocation" EXACT [] xref: SNOMEDCT_US:125617002 xref: SNOMEDCT_US:417558002 xref: UMLS:C1403299 xref: UMLS:C1403321 xref: UMLS:C2720437 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0030310 ! Upper extremity joint dislocation [Term] id: HP:0003043 name: Abnormal shoulder morphology def: "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the shoulder" EXACT layperson [] xref: UMLS:C4025659 is_a: HP:0000765 ! Abnormal thorax morphology is_a: HP:0011844 ! Abnormal appendicular skeleton morphology [Term] id: HP:0003044 name: Shoulder flexion contracture def: "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:202265005 xref: UMLS:C0409336 is_a: HP:0034665 ! Shoulder contracture [Term] id: HP:0003045 name: Abnormal patella morphology def: "Abnormality of the patella (knee cap)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal kneecap" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the patella" EXACT [] synonym: "Patellar abnormality" EXACT [] xref: UMLS:C4021743 is_a: HP:0034669 ! Abnormal knee morphology [Term] id: HP:0003048 name: Radial head subluxation def: "Partial dislocation of the head of the radius." [https://orcid.org/0000-0002-0736-9199] synonym: "Radial subluxation" EXACT [] synonym: "Radial-head subluxation" EXACT [] xref: SNOMEDCT_US:417109008 xref: SNOMEDCT_US:95854004 xref: UMLS:C0149977 is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0003049 name: Ulnar deviation of the wrist synonym: "Ulnar deviation of wrists" EXACT [] xref: SNOMEDCT_US:43689004 xref: UMLS:C0231678 is_a: HP:0025798 ! Abnormal wrist morphology [Term] id: HP:0003051 name: Enlarged metaphyses alt_id: HP:0005018 def: "Abnormal increase in size of one or more metaphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged wide portion of a long bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855544 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0003053 name: Epiphyseal deformities of tubular bones xref: UMLS:C1854786 is_a: HP:0005930 ! Abnormal epiphysis morphology [Term] id: HP:0003057 name: Tetraamelia def: "Amelia of all four limbs." [https://orcid.org/0009-0006-4530-3154] synonym: "Tetra-amelia" EXACT [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:702313004 xref: UMLS:C2931216 is_a: HP:0009827 ! Amelia [Term] id: HP:0003059 name: Abnormality of the radioulnar joints xref: UMLS:C4025658 is_a: HP:0002973 ! Abnormal forearm morphology [Term] id: HP:0003063 name: obsolete Abnormality of the humerus is_obsolete: true replaced_by: HP:0031095 [Term] id: HP:0003065 name: Patellar hypoplasia alt_id: HP:0005020 def: "Underdevelopment of the patella." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic patellae" EXACT [] synonym: "Small kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Small patella" EXACT [] synonym: "Small patellae" EXACT [] synonym: "Underdeveloped kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1840068 is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0003066 name: Limited knee extension def: "Reduced ability to extend (straighten) the knee joint." [] synonym: "Limited knee extension" EXACT layperson [] xref: UMLS:C1844690 is_a: HP:0010501 ! Limitation of knee mobility [Term] id: HP:0003067 name: Madelung deformity def: "An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna." [https://orcid.org/0000-0002-0736-9199, PMID:12362035] subset: hposlim_core synonym: "Madelung wrist deformity" EXACT [] xref: SNOMEDCT_US:4530000 xref: UMLS:C0152441 is_a: HP:0025798 ! Abnormal wrist morphology [Term] id: HP:0003068 name: Madelung-like forearm deformities xref: UMLS:C1851419 is_a: HP:0002818 ! Abnormal morphology of the radius [Term] id: HP:0003070 name: Elbow ankylosis xref: SNOMEDCT_US:202307002 xref: UMLS:C0409477 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0031013 ! Ankylosis [Term] id: HP:0003071 name: Flattened epiphysis alt_id: HP:0004982 alt_id: HP:0005051 alt_id: HP:0005076 alt_id: HP:0005080 def: "Abnormal flatness (decreased height) of epiphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Flat end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flat epiphyses" EXACT [] xref: UMLS:C1857527 is_a: HP:0005930 ! Abnormal epiphysis morphology [Term] id: HP:0003072 name: Hypercalcemia alt_id: HP:0008250 def: "An abnormally increased calcium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Hypercalcaemia" EXACT [] synonym: "Increased calcium in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:166702002 xref: SNOMEDCT_US:66931009 xref: UMLS:C0020437 is_a: HP:0004363 ! Abnormal circulating calcium concentration [Term] id: HP:0003073 name: Hypoalbuminemia def: "Reduction in the concentration of albumin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoalbuminaemia" EXACT [] synonym: "Low albumin" BROAD layperson [] synonym: "Low blood albumin" EXACT layperson [] xref: SNOMEDCT_US:119247004 xref: UMLS:C0239981 is_a: HP:0012116 ! Abnormal circulating albumin concentration [Term] id: HP:0003074 name: Hyperglycemia def: "An increased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood glucose" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "High blood sugar" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:237598005 xref: SNOMEDCT_US:80394007 xref: UMLS:C0020456 is_a: HP:0011015 ! Abnormal blood glucose concentration [Term] id: HP:0003075 name: Hypoproteinemia def: "A decreased concentration of protein in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Decreased protein levels in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:8900005 xref: UMLS:C0020639 is_a: HP:0010876 ! Abnormal circulating protein concentration [Term] id: HP:0003076 name: Glycosuria alt_id: HP:0003122 alt_id: HP:0011016 def: "An increased concentration of glucose in the urine." [HPO_CONTRIBUTOR:gcarletti] comment: Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. synonym: "Glucose in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Glucosuria" EXACT [] xref: SNOMEDCT_US:45154002 xref: UMLS:C0017979 is_a: HP:6000531 ! Abnormal urinary organic compound level [Term] id: HP:0003077 name: Hyperlipidemia alt_id: HP:0008159 alt_id: HP:0008356 def: "An elevated lipid concentration in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). synonym: "Elevated lipids in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:55822004 xref: UMLS:C0020473 is_a: HP:0003119 ! Abnormal circulating lipid concentration [Term] id: HP:0003079 name: Defective DNA repair after ultraviolet radiation damage xref: UMLS:C1968564 is_a: HP:0003254 ! Abnormality of DNA repair [Term] id: HP:0003080 name: Hydroxyprolinuria def: "An increased concentration of 4-hydroxy-L-proline in the urine." [HPO_CONTRIBUTOR:gcarletti] synonym: "Elevated urinary hydroxyproline" EXACT layperson [] xref: UMLS:C0948585 is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level [Term] id: HP:0003081 name: Increased urinary potassium def: "An increased concentration of potassium(1+) in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperkaliuresis" EXACT [] synonym: "Increased urinary K" EXACT abbreviation [] synonym: "Increased urinary potassium" EXACT layperson [] xref: UMLS:C1846351 is_a: HP:0012598 ! Abnormal urine potassium concentration [Term] id: HP:0003083 name: Dislocated radial head alt_id: HP:0002975 alt_id: HP:0005673 alt_id: HP:0005836 def: "A dislocation of the head of the radius from its socket in the elbow joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital radial head dislocation" EXACT [] synonym: "Dislocated radial heads" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Dislocated radius" EXACT [] synonym: "Dislocation of radial head" EXACT [] synonym: "Dislocation of the radial head" EXACT [] synonym: "Radial dislocation" EXACT [] synonym: "Radial head dislocation" EXACT [] synonym: "Radial head dislocation/subluxation" EXACT [] xref: SNOMEDCT_US:9634000 xref: UMLS:C0265563 is_a: HP:0003042 ! Elbow dislocation is_a: HP:0003995 ! Abnormality of the radial head is_a: HP:0100744 ! Abnormality of the humeroradial joint [Term] id: HP:0003084 name: Recurrent long bone fractures alt_id: HP:0005847 def: "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna)." [https://orcid.org/0000-0002-0736-9199] synonym: "Fractures of the long bones" EXACT [] synonym: "Increased long bone fracture rate" EXACT [] xref: UMLS:C0240231 is_a: HP:0002757 ! Recurrent fractures is_a: HP:0025736 ! Long-bone fracture [Term] id: HP:0003085 name: Long fibula def: "Disproportionately long fibulae." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Disproportionately long fibula" EXACT [] synonym: "Long calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Long fibula" EXACT layperson [] xref: UMLS:C1848109 is_a: HP:0002991 ! Abnormal fibula morphology [Term] id: HP:0003086 name: Acromesomelia def: "Small hands and feet." [https://orcid.org/0000-0002-0736-9199, PMID:22286749] xref: UMLS:C1864365 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0003088 name: Premature osteoarthritis synonym: "Premature arthritis" EXACT layperson [] synonym: "Premature osteoarthritis" EXACT layperson [] xref: UMLS:C1835121 is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0003089 name: Hamstring contractures synonym: "Hamstring contractures" EXACT layperson [] xref: SNOMEDCT_US:203074005 xref: UMLS:C0410266 is_a: HP:0005750 ! Lower-limb joint contracture [Term] id: HP:0003090 name: Hypoplasia of the capital femoral epiphysis alt_id: HP:0003374 alt_id: HP:0008791 alt_id: HP:0008792 def: "Underdevelopment of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Small capital femoral epiphyses" EXACT [] synonym: "Small femoral capital epiphyses" EXACT [] synonym: "Small innermost thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small proximal femoral epiphyses" EXACT [] synonym: "Underdevelopment of the innermost thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1839254 is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis [Term] id: HP:0003091 name: Trophic limb changes def: "Trophic changes occurring in a limb." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025657 is_a: HP:0010834 ! Trophic changes related to pain [Term] id: HP:0003093 name: Limited hip extension alt_id: HP:0008810 def: "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward." [https://orcid.org/0000-0002-0736-9199] comment: Reduced ability to straighten out the femur. synonym: "Limited hip extension" EXACT layperson [] synonym: "Restricted hip extension" EXACT layperson [] xref: UMLS:C3553368 is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003095 name: Septic arthritis synonym: "Infected joint" BROAD layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:372939007 xref: SNOMEDCT_US:396234004 xref: UMLS:C0003869 xref: UMLS:C4280547 is_a: HP:0001369 ! Arthritis property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0003097 name: Short femur alt_id: HP:0009749 def: "An abnormal shortening of the femur." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Femoral hypoplasia" EXACT [] synonym: "Hypoplasia of the femora" EXACT [] synonym: "Short femurs" EXACT [] synonym: "Short thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:93255008 xref: UMLS:C0345375 is_a: HP:0003026 ! Short long bone is_a: HP:0005613 ! Aplasia/hypoplasia of the femur [Term] id: HP:0003099 name: Fibular overgrowth def: "Relatively increased growth of the fibula compared to that of the tibia." [https://orcid.org/0000-0002-0736-9199, PMID:17259417] synonym: "Overgrowth of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1864298 is_a: HP:0002991 ! Abnormal fibula morphology [Term] id: HP:0003100 name: Slender long bone alt_id: HP:0003060 alt_id: HP:0003061 alt_id: HP:0003096 alt_id: HP:0005064 def: "Reduced diameter of a long bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Gracile long bones" EXACT [] synonym: "Long bones slender" EXACT layperson [] synonym: "Slender long bone" EXACT layperson [] synonym: "Slender long bones" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Slender, gracile long tubular bones" EXACT [] synonym: "Thin gracile long bones" RELATED [] synonym: "Thin long bones" EXACT layperson [] synonym: "Thin, gracile long bones" EXACT [] xref: UMLS:C1833144 is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0003102 name: Increased carrying angle def: "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm." [https://orcid.org/0000-0002-0736-9199, PMID:18506557] comment: Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis. xref: UMLS:C1855478 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003103 name: Abnormal cortical bone morphology def: "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones." [https://orcid.org/0009-0006-4530-3154] synonym: "Abnormal compact bone morphology" EXACT [] synonym: "Abnormality of cortical bone" EXACT [] xref: UMLS:C4021741 is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0003105 name: Protuberances at ends of long bones def: "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Protuberances at ends of long bones" EXACT layperson [] xref: UMLS:C1851418 is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0003106 name: Subperiosteal bone resorption def: "Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone." [PMID:24849102] synonym: "Subperiosteal erosions" EXACT [] xref: UMLS:C1848541 is_a: HP:0002813 ! Abnormal limb bone morphology [Term] id: HP:0003107 name: Abnormal circulating cholesterol concentration alt_id: HP:0003464 def: "Any deviation from the normal concentration of cholesterol in the blood circulation." [] synonym: "Abnormal cholesterol homeostasis" EXACT [] synonym: "Abnormality of cholesterol metabolism" EXACT layperson [] xref: UMLS:C4025656 is_a: HP:0003119 ! Abnormal circulating lipid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T01:02:00Z [Term] id: HP:0003108 name: Hyperglycinuria alt_id: HP:0002931 def: "An increased concentration of glycine in the urine." [HPO_CONTRIBUTOR:gcarletti, PMID:18901181, PMID:20240447] comment: Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. synonym: "Glycinuria" EXACT [] synonym: "High urine glycine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:236477004 xref: UMLS:C0341706 xref: UMLS:C0543541 is_a: HP:0033099 ! Increased serine family amino acid in urine [Term] id: HP:0003109 name: Hyperphosphaturia alt_id: HP:0003266 def: "An increased excretion of phosphates in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine phosphate levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Phosphaturia" EXACT [] xref: SNOMEDCT_US:22450000 xref: UMLS:C0268079 xref: UMLS:C0948023 is_a: HP:0012599 ! Abnormal urine phosphate concentration [Term] id: HP:0003110 name: Abnormality of urine homeostasis alt_id: HP:0011865 alt_id: HP:0011866 def: "An abnormality of the composition of urine or the levels of its components." [https://orcid.org/0000-0002-0736-9199] synonym: "Pee issues" EXACT layperson [] synonym: "Urine issues" EXACT layperson [] xref: UMLS:C4025655 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0011277 ! Abnormality of the urinary system physiology [Term] id: HP:0003111 name: Abnormal blood ion concentration alt_id: HP:0003253 def: "Abnormality of the homeostasis (concentration) of a monoatomic ion." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of ion homeostasis" EXACT [] synonym: "Electrolyte disorders" EXACT layperson [] synonym: "Electrolyte disturbance" EXACT [] xref: SNOMEDCT_US:237840007 xref: UMLS:C1704431 xref: UMLS:C4025654 is_a: HP:0032180 ! Abnormal circulating metabolite concentration [Term] id: HP:0003112 name: Abnormal circulating amino acid concentration def: "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of serum amino acid level" EXACT [] synonym: "Abnormality of serum amino acid levels" EXACT layperson [] xref: UMLS:C4025653 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration [Term] id: HP:0003113 name: Hypochloremia def: "An abnormally decreased chloride concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood chloride levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:10399008 xref: UMLS:C0085680 xref: UMLS:C0595901 is_a: HP:0011422 ! Abnormal blood chloride concentration [Term] id: HP:0003114 name: obsolete Abnormal cardiological findings is_obsolete: true replaced_by: HP:0001626 [Term] id: HP:0003115 name: Abnormal EKG def: "Abnormal rhythm of the heart." [] synonym: "Abnormal ECG" EXACT layperson [] synonym: "Abnormal EKG" EXACT layperson [] synonym: "Abnormal electrocardiogram" EXACT [] synonym: "EKG abnormality" EXACT abbreviation [] xref: SNOMEDCT_US:102594003 xref: UMLS:C0522055 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology [Term] id: HP:0003116 name: obsolete Abnormal echocardiogram is_obsolete: true replaced_by: HP:0001626 [Term] id: HP:0003117 name: Abnormal circulating hormone concentration def: "Concentration of a hormone in the blood circulation outside of normal limits." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal circulating hormone level" EXACT [] synonym: "Abnormality of circulating hormone level" EXACT layperson [] xref: UMLS:C4025652 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0003118 name: Increased circulating cortisol level alt_id: HP:0000850 alt_id: HP:0001578 alt_id: HP:0004316 def: "Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features." [https://orcid.org/0000-0002-0538-4547] synonym: "Cushing syndrome" EXACT [] synonym: "Hypercortisolism" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Increased circulating cortisol level" EXACT layperson [] synonym: "Increased cortisol production" EXACT [] xref: SNOMEDCT_US:237735008 xref: SNOMEDCT_US:275437005 xref: SNOMEDCT_US:47270006 xref: UMLS:C0001622 xref: UMLS:C0342443 xref: UMLS:C4025651 is_a: HP:0002717 ! Adrenal overactivity is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0003119 name: Abnormal circulating lipid concentration alt_id: HP:0003611 def: "Any deviation from the normal concentration of a lipid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. synonym: "Dyslipidaemia" RELATED uk_spelling [] synonym: "Dyslipidemia" RELATED [] xref: SNOMEDCT_US:370992007 xref: UMLS:C0242339 xref: UMLS:C4025650 is_a: HP:0430071 ! Abnormal circulating organic compound concentration [Term] id: HP:0003121 name: Limb joint contracture alt_id: HP:0005631 alt_id: HP:0005839 def: "A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Limb contractures" EXACT layperson [] xref: UMLS:C1969879 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0003124 name: Hypercholesterolemia alt_id: HP:0008154 alt_id: HP:0008173 alt_id: HP:0008359 def: "An increased concentration of cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Elevated serum cholesterol" EXACT layperson [] synonym: "Elevated total cholesterol" EXACT layperson [] synonym: "High cholesterol" BROAD layperson [] synonym: "Increased total cholesterol" EXACT layperson [] xref: SNOMEDCT_US:13644009 xref: SNOMEDCT_US:166830008 xref: UMLS:C0020443 xref: UMLS:C0595929 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration [Term] id: HP:0003125 name: Reduced factor VIII activity alt_id: HP:0008349 alt_id: HP:0008355 def: "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [https://orcid.org/0000-0002-0736-9199] synonym: "Factor VIII deficiency" RELATED [] xref: SNOMEDCT_US:234440005 xref: UMLS:C3494187 xref: UMLS:C4025649 is_a: HP:0030976 ! Abnormal factor VIII activity [Term] id: HP:0003126 name: Low-molecular-weight proteinuria def: "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)." [PMID:95574] synonym: "Tubular proteinuria" EXACT [] xref: UMLS:C1839606 is_a: HP:0000093 ! Proteinuria [Term] id: HP:0003127 name: Hypocalciuria def: "An abnormally decreased calcium concentration in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Low urine calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:86353007 xref: UMLS:C0020599 is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0003128 name: Lactic acidosis alt_id: HP:0003255 alt_id: HP:0005960 def: "An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids." [https://orcid.org/0000-0002-0736-9199] comment: Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. synonym: "Hyperlacticacidemia" EXACT [] synonym: "Increased lactate in body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Lactic acidemia" EXACT [] synonym: "Lacticacidemia" EXACT [] synonym: "Lacticacidosis" EXACT [] xref: SNOMEDCT_US:190882007 xref: SNOMEDCT_US:91273001 xref: UMLS:C0001125 xref: UMLS:C0347959 is_a: HP:0001941 ! Acidosis [Term] id: HP:0003130 name: Abnormal peripheral myelination alt_id: HP:0003408 def: "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense." [HPO_CONTRIBUTOR:jbaets, https://orcid.org/0000-0002-9102-5232] comment: This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011). xref: UMLS:C4025648 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0003131 name: Cystinuria def: "An increased concentration of cystine in the urine." [HPO_CONTRIBUTOR:gcarletti] comment: Cystine is a sulfur-containing amino acid. synonym: "High urine cystine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Nitroprusside-cyanide urine test positive" RELATED [] xref: SNOMEDCT_US:85020001 xref: UMLS:C0010691 is_a: HP:0033095 ! Increased sulfur amino acid level in urine [Term] id: HP:0003133 name: Abnormality of the spinocerebellar tracts def: "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025647 is_a: HP:0002143 ! Abnormal spinal cord morphology [Term] id: HP:0003134 name: Abnormality of peripheral nerve conduction alt_id: HP:0006832 alt_id: HP:0007186 def: "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)." [https://orcid.org/0000-0002-0736-9199] comment: A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introduced to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured. synonym: "Abnormal peripheral nerve transmission" RELATED [] synonym: "Sensory and motor nerve conduction abnormalities" EXACT [] xref: UMLS:C4020690 is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology [Term] id: HP:0003137 name: Prolinuria def: "Level of proline in the urine anove the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] comment: Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours. synonym: "Proline high in urine" EXACT [] xref: SNOMEDCT_US:53124003 xref: UMLS:C0268534 is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine [Term] id: HP:0003138 name: Increased blood urea nitrogen def: "An increased amount of nitrogen in the form of urea in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Increased blood urea nitrogen" EXACT layperson [] synonym: "Increased BUN" EXACT abbreviation [] xref: UMLS:C0151539 is_a: HP:0002157 ! Azotemia is_a: HP:0031970 ! Abnormal blood urea nitrogen concentration [Term] id: HP:0003139 name: Panhypogammaglobulinemia def: "A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes." [PMID:23726535] synonym: "Panhypogammaglobulinaemia" EXACT uk_spelling [] synonym: "Panypogammaglobulinemia" EXACT [] xref: UMLS:C1328587 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration [Term] id: HP:0003140 name: T-wave inversion in the right precordial leads xref: UMLS:C4025646 is_a: HP:0010872 ! T-wave inversion [Term] id: HP:0003141 name: Increased LDL cholesterol concentration alt_id: HP:0008343 def: "An elevated concentration of low-density lipoprotein cholesterol in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperbetalipoproteinemia" EXACT [] synonym: "Increased beta-lipoproteins" EXACT [] synonym: "Increased circulating LDL level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased circulating low-density lipoprotein cholesterol" EXACT [] synonym: "Increased circulating low-density lipoprotein levels" EXACT [] synonym: "Increased LDL cholesterol" EXACT layperson [] synonym: "Increased LDLc concentration" EXACT abbreviation [] synonym: "Increased plasma LDL levels" EXACT abbreviation [] xref: SNOMEDCT_US:190773008 xref: SNOMEDCT_US:398036000 xref: UMLS:C0020445 xref: UMLS:C0549399 is_a: HP:0010980 ! Hyperlipoproteinemia is_a: HP:0031886 ! Abnormal LDL cholesterol concentration [Term] id: HP:0003142 name: Excessive purine production xref: UMLS:C4025645 is_a: HP:0012337 ! Abnormal homeostasis [Term] id: HP:0003144 name: Increased serum serotonin def: "A increased concentration of serotonin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased serum serotonin" EXACT layperson [] xref: UMLS:C0877243 is_a: HP:0003117 ! Abnormal circulating hormone concentration [Term] id: HP:0003145 name: Decreased circulating adenosylcobalamin concentration def: "The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased ADOCBL" EXACT [] xref: UMLS:C1848556 is_a: HP:0040126 ! Abnormal circulating vitamin B12 concentration [Term] id: HP:0003146 name: Hypocholesterolemia def: "An decreased concentration of cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Decreased circulating cholesterol level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:61336008 xref: UMLS:C0151718 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration [Term] id: HP:0003148 name: Elevated serum acid phosphatase comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. synonym: "Acid phosphatase elevated" EXACT layperson [] synonym: "Elevated serum acid phosphatase" EXACT layperson [] xref: UMLS:C1839866 is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003149 name: Hyperuricosuria alt_id: HP:0012611 def: "An abnormally high level of uric acid in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. synonym: "High urine uric acid level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased urinary urate" EXACT [] xref: UMLS:C0948643 is_a: HP:0012610 ! Abnormality of urinary uric acid level [Term] id: HP:0003150 name: Glutaric aciduria alt_id: HP:0003490 def: "The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti] synonym: "Glutarate aciduria" EXACT [https://orcid.org/0000-0001-9969-8610] synonym: "Glutaricaciduria" EXACT [] synonym: "Increased glutarate level in urine" EXACT [CHEBI:24329, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:28987007 xref: UMLS:C0268594 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0003152 name: obsolete Increased serum 1,25-dihydroxyvitamin D3 is_obsolete: true replaced_by: HP:0031415 [Term] id: HP:0003153 name: Cystathioninuria def: "An elevated urinary concentration of cystathionine." [https://orcid.org/0000-0002-0736-9199] comment: Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. synonym: "High urine cystathionine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:13003007 xref: UMLS:C0220993 is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level [Term] id: HP:0003154 name: Increased circulating ACTH level def: "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood corticotropin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased circulating ACTH level" EXACT layperson [] synonym: "Increased plasma ACTH" EXACT [] xref: UMLS:C4021740 is_a: HP:0011043 ! Abnormal circulating adrenocorticotropin concentration [Term] id: HP:0003155 name: Elevated circulating alkaline phosphatase concentration alt_id: HP:0002911 alt_id: HP:0003636 alt_id: HP:0008296 def: "Abnormally increased serum levels of alkaline phosphatase activity." [https://orcid.org/0000-0002-0736-9199, PMID:29083622] synonym: "Elevated alkaline phosphatase" EXACT layperson [] synonym: "Elevated ALP" EXACT abbreviation [] synonym: "Greatly elevated alkaline phosphatase" EXACT layperson [] synonym: "High serum alkaline phosphatase" EXACT layperson [] synonym: "Hyperphosphatasemia" EXACT [] synonym: "Hyperphosphatasia" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Increased alkaline phosphatase" EXACT layperson [] synonym: "Increased serum alkaline phosphatase" EXACT layperson [] xref: UMLS:C0750857 is_a: HP:0004379 ! Abnormality of alkaline phosphatase level [Term] id: HP:0003158 name: Hyposthenuria def: "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus. synonym: "Reduced urinary osmolality" EXACT [] xref: SNOMEDCT_US:76023003 xref: UMLS:C0232831 is_a: HP:0033358 ! Abnormal urine osmolality [Term] id: HP:0003159 name: Hyperoxaluria def: "Increased excretion of oxalates in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine oxalate levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased level of oxalate in urine" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-9969-8610, PMID:11135054] xref: SNOMEDCT_US:367621000119107 xref: UMLS:C0020500 is_a: HP:0001992 ! Organic aciduria [Term] id: HP:0003160 name: Abnormal isoelectric focusing of serum transferrin def: "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded." [https://orcid.org/0000-0002-0736-9199, PMID:22516080] comment: Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin. synonym: "Abnormal isoelectric focusing of transferrin" EXACT [] synonym: "Abnormal transferrin isoelectric focusing" EXACT [] xref: UMLS:C2749688 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation [Term] id: HP:0003161 name: 4-Hydroxyphenylpyruvic aciduria def: "Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Hydroxyphenylpyruvic aciduria" EXACT [] xref: UMLS:C1848678 is_a: HP:0040156 ! Elevated urinary carboxylic acid [Term] id: HP:0003162 name: Fasting hypoglycemia synonym: "Low blood sugar when fasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:6974005 xref: UMLS:C0271708 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0003163 name: Elevated urinary delta-aminolevulinic acid def: "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. synonym: "Elevated urinary delta-aminolevulinic acid" EXACT layperson [] xref: UMLS:C1848702 is_a: HP:6000531 ! Abnormal urinary organic compound level [Term] id: HP:0003164 name: Hypothalamic gonadotropin-releasing hormone deficiency synonym: "Hypothalamic GNRH deficiency" EXACT [] xref: UMLS:C4025644 is_a: HP:0012285 ! Abnormal hypothalamus physiology is_a: HP:0500012 ! Abnormal gonadotropin-releasing hormone concentration [Term] id: HP:0003165 name: Elevated circulating parathyroid hormone level def: "An abnormal increased concentration of parathyroid hormone." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated circulating PTH level" EXACT [] synonym: "Elevated serum parathyroid hormone" EXACT [] synonym: "Elevated serum parathyroid hormone level" EXACT [] synonym: "Elevated serum pth" EXACT [] synonym: "Increased serum parathyroid hormone" EXACT [] xref: UMLS:C0857973 is_a: HP:0100530 ! Abnormal circulating calcium-phosphate regulating hormone concentration [Term] id: HP:0003166 name: Increased urinary taurine def: "Increased concentration of taurine in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urinary taurine" EXACT layperson [] xref: UMLS:C3806447 is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level [Term] id: HP:0003167 name: Carnosinuria def: "An increased concentration of carnosine in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Carnosine is the N-(beta-alanyl) derivative of L-histidine. synonym: "High urine carnosine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:410051001 xref: UMLS:C3495558 is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level [Term] id: HP:0003168 name: Dibasicaminoaciduria def: "An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His)." [] xref: UMLS:C4025643 is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine [Term] id: HP:0003170 name: Abnormal acetabulum morphology def: "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the acetabulum" EXACT [] synonym: "Abnormality of the hipbone socket" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Acetabular abnormality" EXACT [] xref: UMLS:C4021739 is_a: HP:0001384 ! Abnormal hip joint morphology [Term] id: HP:0003172 name: Abnormal pubic bone morphology def: "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the pubic bone" EXACT layperson [] synonym: "Abnormality of the pubic bones" EXACT layperson [] synonym: "Abnormality of the pubis" EXACT layperson [] xref: UMLS:C4021738 is_a: HP:0003272 ! Abnormal hip bone morphology [Term] id: HP:0003173 name: Hypoplastic pubic bone def: "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic pubic bones" EXACT plural_form [] synonym: "Hypoplastic pubis" EXACT [] xref: UMLS:C1865030 is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0003174 name: Abnormal ischium morphology def: "An anomaly of the ischium, which forms the lower and back part of the hip bone." [https://orcid.org/0000-0002-0736-9199] comment: The ischium, together with the ilium and the pubis, forms the hip bone (os coxae). synonym: "Abnormality of the ischial bones" EXACT [] synonym: "Abnormality of the ischium" EXACT [] synonym: "Anomaly of the ischium" EXACT [] xref: SNOMEDCT_US:93008005 xref: UMLS:C0685661 is_a: HP:0003272 ! Abnormal hip bone morphology [Term] id: HP:0003175 name: Hypoplastic ischia def: "Underdevelopment of the ischium, which forms the lower and back part of the hip bone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic ischial bones" EXACT [] synonym: "Hypoplastic ischii" EXACT [] synonym: "Hypoplastic ischium" EXACT [] xref: UMLS:C1859447 is_a: HP:0003174 ! Abnormal ischium morphology [Term] id: HP:0003177 name: Squared iliac bones def: "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Square iliac bones" EXACT [] synonym: "Squaring of iliac bones" EXACT [] xref: UMLS:C1838186 is_a: HP:0002867 ! Abnormal ilium morphology [Term] id: HP:0003179 name: Protrusio acetabuli def: "Intrapelvic bulging of the medial acetabular wall." [https://orcid.org/0000-0002-0736-9199] comment: Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. subset: hposlim_core synonym: "Abnormally indented hip sockets" EXACT layperson [] synonym: "Acetabular protrusion" EXACT [] synonym: "Protrusio acetabulae" EXACT [] xref: SNOMEDCT_US:59606006 xref: UMLS:C0409495 is_a: HP:0003170 ! Abnormal acetabulum morphology [Term] id: HP:0003180 name: Flat acetabular roof alt_id: HP:0003171 alt_id: HP:0008832 alt_id: HP:0008834 def: "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acetabular angle flat" EXACT [] synonym: "Flat acetabular roofs" EXACT [] synonym: "Flattened acetabular roof" EXACT [] synonym: "Horizontal acetabulae" EXACT [] synonym: "Horizontal acetabular roof" EXACT [] synonym: "Horizontal acetabular roofs" EXACT [] xref: UMLS:C1837485 is_a: HP:0003170 ! Abnormal acetabulum morphology [Term] id: HP:0003182 name: Shallow acetabular fossae synonym: "Shallow acetabula" EXACT [] synonym: "Shallow acetabulae" EXACT [] synonym: "Shallow acetabular fossa" EXACT [] synonym: "Shallow acetabulum" EXACT [] xref: UMLS:C1854910 xref: UMLS:C1860796 is_a: HP:0003170 ! Abnormal acetabulum morphology [Term] id: HP:0003183 name: Wide pubic symphysis def: "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Wide symphysis of pubis" EXACT [] xref: UMLS:C1857190 is_a: HP:0003172 ! Abnormal pubic bone morphology [Term] id: HP:0003184 name: Decreased hip abduction def: "Reduced ability to move the femur outward to the side." [https://orcid.org/0000-0002-0736-9199] synonym: "Limited hip abduction" EXACT [] xref: UMLS:C1836589 is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003185 name: Short greater sciatic notch alt_id: HP:0008815 def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch." [https://orcid.org/0000-0002-0736-9199] synonym: "Short sacroiliac notch" EXACT [] synonym: "Shortened sacroiliac notches" EXACT [] synonym: "Small sacroiliac notch" EXACT [] xref: UMLS:C1866689 is_a: HP:0010456 ! Abnormal greater sciatic notch morphology [Term] id: HP:0003186 name: Inverted nipples def: "The presence of nipples that instead of pointing outward are retracted inwards." [https://orcid.org/0009-0006-4530-3154] synonym: "Invaginated nipples" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Inverted nipples" EXACT layperson [] xref: SNOMEDCT_US:82231009 xref: UMLS:C0269269 is_a: HP:0004404 ! Abnormal nipple morphology [Term] id: HP:0003187 name: Breast hypoplasia alt_id: HP:0000784 def: "Underdevelopment of the breast." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped breasts" EXACT layperson [] xref: SNOMEDCT_US:8915006 xref: UMLS:C0266013 is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts [Term] id: HP:0003189 name: Long nose alt_id: HP:0005283 alt_id: HP:0200142 def: "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base." [PMID:19152422] synonym: "Elongated nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal height" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal length" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long nose" EXACT layperson [] synonym: "Nasal elongation" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839798 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003191 name: Cleft ala nasi alt_id: HP:0004412 def: "The presence of a notch in the margin of the ala nasi." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity. synonym: "Ala nasi, cleft" EXACT [] synonym: "Alar clefts" EXACT [] synonym: "Cleft nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nostril coloboma" RELATED [] synonym: "Notched nasal alae" EXACT [] xref: UMLS:C1844537 is_a: HP:0000429 ! Abnormal morphology of the nasal alae [Term] id: HP:0003193 name: Allergic rhinitis def: "It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea." [PMID:11449200] synonym: "Hay fever" EXACT layperson [] synonym: "Hayfever" EXACT layperson [] synonym: "Nasal allergies" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:61582004 xref: UMLS:C0847614 xref: UMLS:C2607914 is_a: HP:0012384 ! Rhinitis is_a: HP:0012393 ! Allergy [Term] id: HP:0003194 name: Short nasal bridge def: "Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose." [] synonym: "Decreased length of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short nasal bridge" EXACT layperson [] xref: UMLS:C1854689 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0003196 name: Short nose alt_id: HP:0000440 alt_id: HP:0000449 alt_id: HP:0000450 alt_id: HP:0003192 alt_id: HP:0003195 alt_id: HP:0005270 alt_id: HP:0200092 def: "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. subset: hposlim_core synonym: "Decreased length of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic nose" EXACT [] synonym: "Nasal hypoplasia" EXACT [] synonym: "Short nose" EXACT layperson [] synonym: "Shortened nose" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Small nose" RELATED layperson [] xref: SNOMEDCT_US:249310005 xref: UMLS:C0426414 xref: UMLS:C1854114 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003198 name: Myopathy alt_id: HP:0003569 alt_id: HP:0003705 alt_id: HP:0003742 alt_id: HP:0003802 def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [https://orcid.org/0000-0002-0736-9199] comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. synonym: "Muscle tissue disease" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Myopathic changes" EXACT [] xref: SNOMEDCT_US:129565002 xref: UMLS:C0026848 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003199 name: Decreased muscle mass alt_id: HP:0003732 synonym: "Decreased muscle mass" EXACT layperson [] xref: UMLS:C1837108 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003200 name: Ragged-red muscle fibers alt_id: HP:0009076 def: "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm." [https://orcid.org/0000-0002-0736-9199, PMID:12075011, PMID:16537564] comment: This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH). synonym: "Mitochondrial proliferation in muscle tissue" EXACT [] synonym: "Ragged red muscle fibers" EXACT [] synonym: "Ragged red muscle fibres" EXACT uk_spelling [] synonym: "Ragged-red fibers" EXACT [] synonym: "Ragged-red fibres" EXACT uk_spelling [] synonym: "Ragged-red muscle fibres" EXACT uk_spelling [] xref: UMLS:C3275417 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003201 name: Rhabdomyolysis def: "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream." [https://orcid.org/0000-0002-0736-9199] synonym: "Breakdown of skeletal muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:240131006 xref: SNOMEDCT_US:89010004 xref: UMLS:C0035410 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003202 name: Skeletal muscle atrophy alt_id: HP:0001299 alt_id: HP:0003545 alt_id: HP:0003671 alt_id: HP:0003702 alt_id: HP:0003746 alt_id: HP:0006995 alt_id: HP:0007171 alt_id: HP:0007356 alt_id: HP:0009010 alt_id: HP:0009048 alt_id: HP:0100868 def: "The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [https://orcid.org/0000-0002-0736-9199] synonym: "Amyotrophy" EXACT [] synonym: "Amyotrophy involving the extremities" EXACT [] synonym: "Muscle atrophy" EXACT [] synonym: "Muscle atrophy, neurogenic" EXACT [] synonym: "Muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscle hypotrophy" EXACT [] synonym: "Muscle wasting" EXACT layperson [] synonym: "Muscular atrophy" EXACT [] synonym: "Neurogenic muscle atrophy" EXACT [] synonym: "Neurogenic muscle atrophy, especially in the lower limbs" EXACT [] synonym: "Neurogenic muscular atrophy" EXACT [] xref: SNOMEDCT_US:74035001 xref: UMLS:C0234958 xref: UMLS:C0270948 xref: UMLS:C0541794 xref: UMLS:C1843479 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003203 name: Decreased neutrophil oxidative burst alt_id: HP:0005512 alt_id: HP:0025632 def: "Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands." [https://orcid.org/0000-0002-0736-9199, PMID:27558335] comment: The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease. An abnormal test result implies a reduction in the ability of neutrophils to kill bacteria. Polymorphonuclear neutrophils comprise more than 60% of the circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2). synonym: "Decreased oxidative burst" EXACT [] synonym: "Impaired oxidative burst" EXACT [] synonym: "Negative NBT reduction test" EXACT [] synonym: "Negative nitroblue tetrazolium reduction test" EXACT [] synonym: "Reduced reactive oxygen species production in neutrophils" EXACT [] xref: UMLS:C4280805 is_a: HP:0011990 ! Abnormal neutrophil physiology [Term] id: HP:0003204 name: Intracellular accumulation of autofluorescent lipopigment storage material def: "The intracellular accumulation of autofluorescent storage material." [https://orcid.org/0000-0002-0736-9199, PMID:16455164] comment: Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation. xref: UMLS:C4025642 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003205 name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern." [https://orcid.org/0000-0002-0736-9199] synonym: "Curvilinear profiles ultrastructurally" EXACT [] synonym: "Curvilinear profiles ultrastructurally in cells" EXACT [] synonym: "Intracellular curvilinear profiles on ultrastructural analysis" EXACT [] xref: UMLS:C1836852 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003206 name: Decreased activity of NADPH oxidase xref: UMLS:C1844394 is_a: HP:0004358 ! Abnormality of superoxide metabolism [Term] id: HP:0003207 name: Arterial calcification alt_id: HP:0012455 def: "Pathological deposition of calcium salts in one or more arteries." [https://orcid.org/0000-0002-0736-9199, PMID:18519861] comment: Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861). xref: UMLS:C1168153 is_a: HP:0004934 ! Vascular calcification is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:05:00Z [Term] id: HP:0003208 name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern." [https://orcid.org/0000-0002-0736-9199] synonym: "Fingerprint profiles ultrastructurally" EXACT [] synonym: "Fingerprint profiles ultrastructurally in cells" EXACT [] xref: UMLS:C1836851 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003209 name: Decreased pyruvate carboxylase activity def: "A decreased rate of pyruvate carboxylase activity." [https://orcid.org/0000-0002-0736-9199] comment: Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle. xref: UMLS:C4025641 is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003210 name: Decreased methylmalonyl-CoA mutase activity def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity." [https://orcid.org/0000-0002-0736-9199] comment: The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids. synonym: "Decreased methylmalonyl CoA mutase activity" EXACT [] xref: UMLS:C1848579 is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003212 name: Increased circulating IgE concentration alt_id: HP:0005382 alt_id: HP:0005418 alt_id: HP:0005433 def: "An abnormally increased overall level of immunoglobulin E in blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated immunoglobulin E" EXACT [] synonym: "Elevated serum IgE" EXACT [] synonym: "High immunoglobulin E" EXACT [] synonym: "Increased circulating IgE level" EXACT [] xref: UMLS:C0236175 is_a: HP:0010702 ! Increased circulating immunoglobulin concentration is_a: HP:0410241 ! Abnormal circulating IgE concentration [Term] id: HP:0003213 name: Deficient excision of UV-induced pyrimidine dimers in DNA xref: UMLS:C4025640 is_a: HP:0003254 ! Abnormality of DNA repair [Term] id: HP:0003214 name: Prolonged G2 phase of cell cycle xref: UMLS:C4025639 is_a: HP:0011018 ! Abnormality of the cell cycle [Term] id: HP:0003215 name: Dicarboxylic aciduria alt_id: HP:0033455 def: "An increased concentration of dicarboxylic acid in the urine." [HPO_CONTRIBUTOR:gcarletti] comment: A dicarboxylic acid is an oxoacid containing two carboxy groups. Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine. synonym: "Elevated urinary dicarboxylic acid level" EXACT [] xref: UMLS:C1856432 is_a: HP:0040156 ! Elevated urinary carboxylic acid [Term] id: HP:0003216 name: Generalized amyloid deposition def: "A diffuse form of amyloidosis." [https://orcid.org/0000-0002-0736-9199] comment: According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. synonym: "Generalised amyloid deposition" EXACT uk_spelling [] xref: UMLS:C1862968 is_a: HP:0011034 ! Amyloidosis [Term] id: HP:0003217 name: Hyperglutaminemia def: "An increased concentration of glutamine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:4696900] comment: Normal glutamine blood levels are around 550-600 micromole per liter. synonym: "High plasma glutamine" EXACT layperson [] xref: UMLS:C1839533 is_a: HP:0010903 ! Abnormal circulating glutamine concentration [Term] id: HP:0003218 name: Oroticaciduria alt_id: HP:0000810 alt_id: HP:0010928 def: "An increased concentration of orotic acid in the urine." [HPO_CONTRIBUTOR:gcarlotti] comment: Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. synonym: "High urine orotic acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased urinary orotic acid concentration" EXACT [] synonym: "Orotic aciduria" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:124277009 xref: SNOMEDCT_US:47641009 xref: UMLS:C0268128 is_a: HP:0031980 ! Abnormal urine carboxylic acid level [Term] id: HP:0003219 name: Ethylmalonic aciduria def: "The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] comment: Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. xref: UMLS:C1865353 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0003220 name: Abnormality of chromosome stability alt_id: HP:0002915 alt_id: HP:0008307 def: "A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0376628 xref: UMLS:C1859424 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003221 name: Chromosomal breakage induced by crosslinking agents def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C." [https://orcid.org/0009-0006-4530-3154] comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia. synonym: "Chromosomal breakage induced by diepoxybutane" EXACT [] synonym: "Chromosomal breakage induced by mitomycin C" EXACT [] xref: UMLS:C4021737 is_a: HP:0040012 ! Chromosome breakage [Term] id: HP:0003223 name: Decreased circulating methylcobalamin concentration alt_id: HP:0008287 def: "The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased methylcobalamin" EXACT [] synonym: "Methylcobalamin deficiency" EXACT [] xref: UMLS:C4021736 is_a: HP:0040126 ! Abnormal circulating vitamin B12 concentration [Term] id: HP:0003224 name: Increased cellular sensitivity to UV light xref: UMLS:C1857707 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003225 name: Reduced coagulation factor V activity def: "Decreased activity of coagulation factor V." [https://orcid.org/0000-0002-0736-9199] comment: Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. synonym: "Factor V deficiency" RELATED [] synonym: "Reduced factor V activity" EXACT [] xref: SNOMEDCT_US:4320005 xref: SNOMEDCT_US:88776002 xref: UMLS:C0015499 is_a: HP:0031899 ! Abnormal coagulation factor V activity [Term] id: HP:0003226 name: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern." [https://orcid.org/0000-0002-0736-9199] synonym: "Rectilinear profiles ultrastructurally" EXACT [] xref: UMLS:C1850447 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003228 name: Hypernatremia def: "An abnormally increased sodium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood sodium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:286926003 xref: SNOMEDCT_US:39355002 xref: UMLS:C0020488 is_a: HP:0010931 ! Abnormal blood sodium concentration [Term] id: HP:0003231 name: Hypertyrosinemia def: "An increased concentration of tyrosine in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Defect in fumarylacetoacetase. synonym: "Increased tyrosine in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Tyrosinemia" EXACT [] xref: SNOMEDCT_US:56595005 xref: UMLS:C1879362 is_a: HP:0010917 ! Abnormal circulating tyrosine concentration [Term] id: HP:0003232 name: Mitochondrial malic enzyme reduced synonym: "Decreased mitochondrial malic enzyme" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1856697 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003233 name: Decreased HDL cholesterol concentration def: "An decreased concentration of high-density lipoprotein cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Decreased circulating high-density lipoprotein cholesterol" EXACT layperson [] synonym: "Decreased circulating high-density lipoprotein levels" EXACT [] synonym: "Decreased HDL cholesterol" EXACT layperson [] synonym: "Hypoalphalipoproteinemia" EXACT [] synonym: "Low HDL-cholesterol" EXACT layperson [] xref: SNOMEDCT_US:190785000 xref: UMLS:C0151691 xref: UMLS:C0473527 is_a: HP:0010981 ! Hypolipoproteinemia is_a: HP:0031888 ! Abnormal HDL cholesterol concentration [Term] id: HP:0003234 name: Decreased circulating carnitine concentration def: "Concentration of carnitine in the blood circulation below the lower limit of normal." [HPO_CONTRIBUTOR:gcarletti] comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. synonym: "Carnitine deficiency" RELATED layperson [] synonym: "Decreased plasma carnitine" EXACT layperson [] xref: SNOMEDCT_US:421784001 xref: UMLS:C1142132 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0010967 ! Abnormal circulating carnitine concentration [Term] id: HP:0003235 name: Hypermethioninemia def: "An increased concentration of methionine in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Elevated blood methionine levels in the range of 500-2000 micromolar. synonym: "Increased methionine in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Methioninemia" EXACT [] xref: SNOMEDCT_US:124283007 xref: SNOMEDCT_US:43123004 xref: SNOMEDCT_US:57835009 xref: UMLS:C0268621 is_a: HP:0010901 ! Abnormal circulating methionine concentration [Term] id: HP:0003236 name: Elevated circulating creatine kinase concentration alt_id: HP:0002147 alt_id: HP:0002906 alt_id: HP:0003078 alt_id: HP:0003525 alt_id: HP:0003531 alt_id: HP:0008164 def: "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [https://orcid.org/0000-0002-0736-9199] comment: 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) synonym: "Elevated blood creatine phosphokinase" EXACT layperson [] synonym: "Elevated circulating creatine phosphokinase" EXACT layperson [] synonym: "Elevated creatine kinase" EXACT layperson [] synonym: "Elevated serum CPK" EXACT layperson [] synonym: "Elevated serum creatine kinase" EXACT layperson [] synonym: "Elevated serum creatine phosphokinase" EXACT layperson [] synonym: "High serum creatine kinase" EXACT layperson [] synonym: "Increased CPK" EXACT layperson [] synonym: "Increased creatine kinase" EXACT layperson [] synonym: "Increased creatine phosphokinase" EXACT layperson [] synonym: "Increased serum CK" EXACT layperson [] synonym: "Increased serum creatine kinase" EXACT layperson [] synonym: "Increased serum creatine phosphokinase" EXACT layperson [] xref: UMLS:C0151576 xref: UMLS:C0241005 is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration [Term] id: HP:0003237 name: Increased circulating IgG concentration def: "An abnormally increased level of immunoglobulin G in blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased circulating IgG level" EXACT [] synonym: "Increased IgG level" EXACT [] synonym: "Increased levels of IgG" EXACT [] synonym: "Increased total IgG in blood" EXACT [] xref: UMLS:C1858977 is_a: HP:0010702 ! Increased circulating immunoglobulin concentration is_a: HP:0410242 ! Abnormal circulating IgG concentration [Term] id: HP:0003238 name: Hyperpepsinogenemia I xref: UMLS:C4025638 is_a: HP:0010876 ! Abnormal circulating protein concentration [Term] id: HP:0003239 name: Phosphoethanolaminuria alt_id: HP:0410158 def: "An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:23093139] synonym: "High urine phosphoethanolamine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased level of O-phosphoethanolamine in urine" EXACT [] synonym: "Increased urine O-phosphoethanolamine level" EXACT [] xref: SNOMEDCT_US:55236002 xref: UMLS:C0268412 is_a: HP:0033354 ! Abnormal urine metabolite level [Term] id: HP:0003240 name: Increased phosphoribosylpyrophosphate synthetase level def: "Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:4200723] synonym: "Increased phosphoribosyl pyrophosphate synthetase activity" EXACT [] synonym: "Increased PRPS1 activity" EXACT [] xref: UMLS:C4025637 is_a: HP:0032459 ! Abnormal phosphoribosylpyrophosphate synthetase level [Term] id: HP:0003241 name: External genital hypoplasia alt_id: HP:0000788 alt_id: HP:0003245 def: "Underdevelopment of part or all of the external reproductive organs." [https://orcid.org/0000-0002-0736-9199] comment: Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. synonym: "Hypogenitalism" EXACT [] synonym: "Small genitalia" EXACT [] synonym: "Underdevelopment of external reproductive organs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1855333 is_a: HP:0000811 ! Abnormal external genitalia morphology [Term] id: HP:0003244 name: Penile hypospadias def: "Location of the urethral opening on the inferior aspect of the penis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204888000 xref: UMLS:C1691215 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0003246 name: Prominent scrotal raphe def: "Increased size of the ridge of tissue that extends along the midline of the scrotum." [https://orcid.org/0000-0002-0736-9199] synonym: "Prominent perineal raphe" EXACT [] xref: UMLS:C1852407 is_a: HP:0000045 ! Abnormal scrotum morphology [Term] id: HP:0003247 name: Overgrowth of external genitalia synonym: "Overgrowth of external genitalia" EXACT layperson [] xref: UMLS:C1851722 is_a: HP:0000811 ! Abnormal external genitalia morphology [Term] id: HP:0003248 name: Gonadal tissue inappropriate for external genitalia or chromosomal sex xref: UMLS:C1860268 is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0003249 name: Genital ulcers synonym: "Genital ulcers" EXACT layperson [] xref: UMLS:C0151281 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0003250 name: Aplasia of the vagina alt_id: HP:0008709 def: "Aplasia of the vagina." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent vagina" EXACT layperson [] synonym: "Congenital absence of the vagina" EXACT [] xref: SNOMEDCT_US:248871003 xref: SNOMEDCT_US:87380008 xref: UMLS:C0220763 xref: UMLS:C1321884 xref: UMLS:C1841990 is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0003251 name: Male infertility synonym: "Male infertility" EXACT layperson [] xref: SNOMEDCT_US:2904007 xref: UMLS:C0021364 is_a: HP:0000789 ! Infertility is_a: HP:0012041 ! Decreased fertility in males [Term] id: HP:0003252 name: Anteriorly displaced genitalia xref: UMLS:C1848653 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0003254 name: Abnormality of DNA repair def: "An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4021848 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003256 name: Abnormality of the coagulation cascade alt_id: HP:0001925 def: "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators." [https://orcid.org/0000-0002-0736-9199] synonym: "Coagulopathy" EXACT [] xref: SNOMEDCT_US:362970003 xref: SNOMEDCT_US:64779008 xref: UMLS:C0005779 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003258 name: Glyoxalase deficiency xref: UMLS:C3279658 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003259 name: Elevated circulating creatinine concentration alt_id: HP:0003227 def: "An increased amount of creatinine in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Elevated creatinine" EXACT layperson [] synonym: "Elevated serum creatinine" EXACT [] synonym: "High blood creatinine level" EXACT layperson [] synonym: "Increased creatinine" EXACT layperson [] synonym: "Increased serum creatinine" EXACT layperson [] xref: SNOMEDCT_US:166717003 xref: UMLS:C0700225 is_a: HP:0002157 ! Azotemia is_a: HP:0012100 ! Abnormal circulating creatinine concentration [Term] id: HP:0003260 name: Hydroxyprolinemia def: "An increased concentration of hydroxyproline in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter. synonym: "High blood hydroxyproline levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:25739007 xref: UMLS:C0268531 is_a: HP:0010907 ! Abnormal circulating proline concentration [Term] id: HP:0003261 name: Increased circulating IgA concentration alt_id: HP:0004436 alt_id: HP:0005351 alt_id: HP:0005417 def: "An abnormally increased level of immunoglobulin A in blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated IgA" EXACT [] synonym: "Elevated serum IgA" EXACT [] synonym: "IgA hypergammaglobulinemia" EXACT [] synonym: "Increased circulating IgA level" EXACT [] synonym: "Increased levels of IgA" EXACT [] synonym: "Increased serum IgA" EXACT [] xref: UMLS:C0239984 is_a: HP:0010702 ! Increased circulating immunoglobulin concentration is_a: HP:0410240 ! Abnormal circulating IgA concentration [Term] id: HP:0003262 name: Anti-smooth muscle antibody positivity def: "The presence in serum of antibodies against smooth muscle." [https://orcid.org/0000-0002-0736-9199] comment: Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis. synonym: "Anti-smooth muscle antibody positivity" EXACT [] synonym: "Smooth muscle antibody positive" EXACT [] synonym: "Smooth muscle antibody positivity" EXACT [] xref: SNOMEDCT_US:310290006 xref: UMLS:C0241185 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003264 name: Deficiency of N-acetylglucosamine-1-phosphotransferase comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. xref: SNOMEDCT_US:70199000 xref: UMLS:C0020725 is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003265 name: Neonatal hyperbilirubinemia alt_id: HP:0008152 def: "A type of hyperbilirubinemia with neonatal onset." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood bilirubin levels in neonate" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperbilirubinemia, neonatal" EXACT [] xref: SNOMEDCT_US:281610001 xref: UMLS:C0857007 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003267 name: Reduced orotidine 5-prime phosphate decarboxylase level def: "An abnormal decrease in orotidine 5'-phosphate decarboxylase level." [HPO_CONTRIBUTOR:gcarletti] comment: The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis. synonym: "Orotidine-5-prime-phosphate decarboxylase defect" RELATED [] xref: UMLS:C4020845 xref: UMLS:C4025636 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003268 name: Argininuria def: "A increased concentration of arginine in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447] comment: Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours. synonym: "High urine arginine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025635 is_a: HP:0033093 ! Increased glutamine family amino acid level in urine [Term] id: HP:0003269 name: Sudanophilic leukodystrophy xref: SNOMEDCT_US:64855000 xref: UMLS:C0205711 is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0003270 name: Abdominal distention alt_id: HP:0001542 alt_id: HP:0003364 def: "Distention of the abdomen." [https://orcid.org/0000-0002-0736-9199] comment: Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. subset: hposlim_core synonym: "Abdominal bloating" EXACT layperson [] synonym: "Abdominal distension" EXACT [] synonym: "Abdominal swelling" EXACT layperson [] synonym: "Belly bloating" EXACT layperson [] synonym: "Bloating" EXACT layperson [] synonym: "Distended abdomen" EXACT [] xref: SNOMEDCT_US:41931001 xref: SNOMEDCT_US:60728008 xref: UMLS:C0000731 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0003271 name: Visceromegaly def: "Abnormal increased size of the viscera of the abdomen." [https://orcid.org/0000-0002-0736-9199] comment: Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. xref: SNOMEDCT_US:28543008 xref: UMLS:C0042782 is_a: HP:0001438 ! Abnormal abdomen morphology [Term] id: HP:0003272 name: Abnormal hip bone morphology def: "An abnormality of the hip bone." [https://orcid.org/0000-0002-0736-9199] comment: The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. synonym: "Abnormality of the hip bone" EXACT layperson [] synonym: "Abnormality of the hips" EXACT layperson [] xref: UMLS:C4021735 is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology [Term] id: HP:0003273 name: Hip contracture def: "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin." [PMID:16214063, PMID:24975760, PMID:31282072] synonym: "Flexion contracture of hips" EXACT [] synonym: "Flexion contractures of hips" EXACT [] synonym: "Hip contractures" EXACT [] synonym: "Hip flexion contractures" EXACT [] xref: SNOMEDCT_US:202283002 xref: UMLS:C0409354 is_a: HP:0001384 ! Abnormal hip joint morphology is_a: HP:0005750 ! Lower-limb joint contracture [Term] id: HP:0003274 name: Hypoplastic acetabulae def: "Underdeveloped acetabulae." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acetabular hypoplasia" EXACT [] synonym: "Hypoplastic acetabula" EXACT [] xref: UMLS:C1846442 is_a: HP:0003170 ! Abnormal acetabulum morphology [Term] id: HP:0003275 name: Narrow pelvis bone def: "Reduced side to side width of the pelvis." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Narrow pelvis" BROAD layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Narrow pelvis bone" EXACT layperson [] xref: UMLS:C1848103 is_a: HP:0040163 ! Abnormal pelvis bone morphology [Term] id: HP:0003276 name: Pelvic bone exostoses def: "A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage." [https://orcid.org/0000-0002-0736-9199] synonym: "Pelvic exostoses" BROAD [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1844689 is_a: HP:0040163 ! Abnormal pelvis bone morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0003277 name: Constricted iliac wing synonym: "Constricted iliac wings" EXACT plural_form [] xref: UMLS:C1854785 is_a: HP:0011867 ! Abnormal iliac wing morphology [Term] id: HP:0003278 name: Square pelvis bone def: "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure." [https://orcid.org/0000-0002-0736-9199] synonym: "Square pelvis" BROAD layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Square pelvis bone" EXACT layperson [] synonym: "Squared off pelvis" RELATED [] xref: UMLS:C1849953 is_a: HP:0040163 ! Abnormal pelvis bone morphology [Term] id: HP:0003279 name: Coxa magna def: "Widening of the femoral head and neck." [https://orcid.org/0000-0002-0736-9199] comment: Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others. xref: SNOMEDCT_US:296041000119103 xref: UMLS:C1860826 is_a: HP:0003272 ! Abnormal hip bone morphology [Term] id: HP:0003281 name: Increased circulating ferritin concentration def: "Increased concentration of ferritin in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: Ferritin is a ubiquitous intracellular protein that stores iron. Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. synonym: "Elevated serum ferritin" EXACT layperson [] synonym: "High ferritin level" EXACT layperson [] synonym: "Hyperferritinaemia" EXACT [] synonym: "Hyperferritinemia" EXACT [] synonym: "Increased ferritin" EXACT layperson [] synonym: "Increased plasma ferritin" EXACT [] synonym: "Increased serum ferritin level" EXACT layperson [] xref: UMLS:C0241013 xref: UMLS:C0743912 xref: UMLS:C3854388 is_a: HP:0033331 ! Acute phase response is_a: HP:0040133 ! Abnormal circulating ferritin concentration [Term] id: HP:0003282 name: Decreased circulating alkaline phosphatase activity def: "Concentration or activity of alkaline phosphatase outside the upper or lower limtis of normal in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased serum alkaline phosphatase" EXACT layperson [] synonym: "Low alkaline phosphatase" EXACT [] synonym: "Low ALP" EXACT abbreviation [] xref: UMLS:C1860130 is_a: HP:0004379 ! Abnormality of alkaline phosphatase level [Term] id: HP:0003286 name: Cystathioninemia def: "An increased concentration of cystathionine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:16902722] comment: Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma. synonym: "High blood cystathionine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:6669004 xref: UMLS:C0268618 is_a: HP:0033108 ! Abnormal circulating proteinogenic amino acid derivative concentration [Term] id: HP:0003287 name: Abnormality of mitochondrial metabolism def: "A functional anomaly of mitochondria." [https://orcid.org/0000-0001-5208-3432] synonym: "Mitochondrial dysfunction" EXACT [] xref: UMLS:C4021734 is_a: HP:0012103 ! Abnormality of the mitochondrion [Term] id: HP:0003288 name: Mitochondrial propionyl-CoA carboxylase defect synonym: "Mitochondrial PCC defect" EXACT [] xref: UMLS:C4025634 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003292 name: Decreased serum leptin def: "A decreased concentration of leptin in the blood." [https://orcid.org/0000-0002-0736-9199, PMID:16932309] comment: Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. synonym: "Decreased serum leptin" EXACT layperson [] synonym: "Reduced circulating leptin level" EXACT [] xref: UMLS:C1837802 is_a: HP:0004361 ! Abnormal circulating leptin concentration [Term] id: HP:0003295 name: obsolete Impaired FSH and LH secretion is_obsolete: true consider: HP:0030339 [Term] id: HP:0003296 name: Hyperthreoninuria def: "An increased concentration of threonine in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447] comment: Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours. synonym: "High urine threonine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2673931 is_a: HP:0033096 ! Increased aspartate family amino acid level in urine [Term] id: HP:0003297 name: Hyperlysinuria alt_id: HP:0002158 def: "An increased concentration of lysine in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447] comment: Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours. synonym: "High urine lysine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Lysinuria" EXACT [] xref: UMLS:C4021733 is_a: HP:0033096 ! Increased aspartate family amino acid level in urine [Term] id: HP:0003298 name: Spina bifida occulta def: "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin." [https://orcid.org/0000-0002-0736-9199] comment: May be asymptomatic. subset: hposlim_core synonym: "Hidden spina bifida" EXACT [] xref: SNOMEDCT_US:76916001 xref: UMLS:C0080174 is_a: HP:0002414 ! Spina bifida [Term] id: HP:0003300 name: Ovoid vertebral bodies alt_id: HP:0004559 def: "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet vertebral body" RELATED [] synonym: "Oval vertebral bodies" EXACT [] synonym: "Ovoid vertebrae" EXACT [] synonym: "Ovoid-shaped vertebral bodies" EXACT [] xref: UMLS:C1855665 xref: UMLS:C4020844 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003301 name: Irregular vertebral endplates alt_id: HP:0003420 alt_id: HP:0004583 alt_id: HP:0004628 def: "An irregular surface of the vertebral end plates, which are normally relatively smooth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "end-plate irregularities" EXACT [] synonym: "endplate irregularities" EXACT [] synonym: "endplate irregularity" EXACT [] synonym: "Irregular end plates" EXACT [] synonym: "Irregular endplates" EXACT [] synonym: "irregular vertebral plates" EXACT [] synonym: "vertebral endplate irregularity" EXACT [] xref: UMLS:C1842153 is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0003302 name: Spondylolisthesis def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [https://orcid.org/0000-0002-0736-9199, PMID:20411054] synonym: "Displacement of one backbone compared to another" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Slipped backbone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Spondylolithesis" EXACT [] xref: SNOMEDCT_US:274152003 xref: UMLS:C0038016 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003304 name: Spondylolysis def: "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma." [https://orcid.org/0000-0002-0736-9199, PMID:20440613] comment: The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis. subset: hposlim_core xref: SNOMEDCT_US:240221008 xref: UMLS:C0038018 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003305 name: Block vertebrae def: "Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1844753 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0003306 name: Spinal rigidity def: "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion." [https://orcid.org/0000-0002-0736-9199, PMID:11601420, PMID:2246660] synonym: "Reduced spine movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Rigid spine" EXACT [] xref: UMLS:C1858025 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003307 name: Hyperlordosis alt_id: HP:0002939 def: "Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Lordosis" EXACT [] synonym: "Prominent swayback" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:249710008 xref: SNOMEDCT_US:61960001 xref: UMLS:C0024003 is_a: HP:0010674 ! Abnormal curvature of the vertebral column [Term] id: HP:0003308 name: Cervical subluxation def: "A partial dislocation of one or more intervertebral joints in the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1846798 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0003309 name: Ovoid thoracolumbar vertebrae synonym: "Ovoid thoracic and lumbar vertebrae" EXACT [] xref: UMLS:C1868556 is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0003310 name: Abnormal odontoid process morphology alt_id: HP:0004600 def: "Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis." [https://orcid.org/0000-0002-0736-9199, PMID:27081234] comment: The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates. synonym: "Abnormal odontoid peg" EXACT [] synonym: "Abnormal odontoid process" EXACT [] synonym: "Abnormality of the odontoid process" EXACT [] xref: UMLS:C1864794 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003311 name: Hypoplasia of the odontoid process alt_id: HP:0003299 alt_id: HP:0004613 alt_id: HP:0008481 def: "Developmental hypoplasia of the dens of the axis." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic odontoid process" EXACT [] synonym: "Odontoid hypoplasia" EXACT [] synonym: "Small odontoid peg" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Small odontoid process" EXACT [] xref: UMLS:C1846439 is_a: HP:0003310 ! Abnormal odontoid process morphology is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0003312 name: Abnormal form of the vertebral bodies def: "Abnormal morphology of vertebral body." [] synonym: "Abnormal vertebral bodies" EXACT [] synonym: "Abnormally shaped vertebrae" EXACT [] xref: UMLS:C1839326 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0003316 name: Butterfly vertebrae def: "A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray." [https://orcid.org/0000-0002-0736-9199, PMID:31448202, PMID:3693103] synonym: "Anterior rachischisis" EXACT [] synonym: "Butterfly vertebrae" EXACT layperson [] synonym: "Sagittal clefting of vertebrae" EXACT [] xref: UMLS:C1844752 is_a: HP:0008428 ! Vertebral clefting [Term] id: HP:0003318 name: Cervical spine hypermobility synonym: "Cervical spine joint hypermobility" EXACT [] xref: SNOMEDCT_US:298186005 xref: UMLS:C0574967 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003319 name: Abnormality of the cervical spine alt_id: HP:0004587 def: "Any abnormality of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal cervical spine" EXACT layperson [] synonym: "Abnormality of cervical vertebra" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the cervical vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cervical spine abnormalities" EXACT [] synonym: "Cervical vertebral abnormalities" EXACT [] synonym: "Cervical vertebral anomalies" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Disorder of cervical vertebra" EXACT [] xref: UMLS:C1852464 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003320 name: C1-C2 subluxation def: "A partial dislocation of the atlantoaxial joints." [https://orcid.org/0000-0002-0736-9199] comment: A subluxation affecting the intervertebral joint between the first and second cervical vertebrae. xref: UMLS:C1848446 is_a: HP:0003308 ! Cervical subluxation is_a: HP:0008440 ! C1-C2 vertebral abnormality [Term] id: HP:0003321 name: Biconcave flattened vertebrae alt_id: HP:0005782 xref: UMLS:C1833753 is_a: HP:0000926 ! Platyspondyly is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0003323 name: Progressive muscle weakness alt_id: HP:0009032 synonym: "Muscle weakness, progressive" EXACT [] synonym: "Progressive muscular weakness" EXACT [] xref: UMLS:C0240421 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003324 name: Generalized muscle weakness alt_id: HP:0003686 alt_id: HP:0003723 def: "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised muscle weakness" EXACT uk_spelling [] synonym: "Generalised weakness" EXACT uk_spelling [] synonym: "Generalized weakness" EXACT [] synonym: "Muscle weakness, diffuse" EXACT [] synonym: "Muscle weakness, generalised" EXACT uk_spelling [] synonym: "Muscle weakness, generalized" EXACT [] xref: UMLS:C0746674 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003325 name: Limb-girdle muscle weakness alt_id: HP:0008971 def: "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Limb girdle weakness" EXACT [] synonym: "Muscle weakness, limb-girdle" EXACT [] synonym: "Muscular weakness, limb-girdle" EXACT [] xref: UMLS:C1858127 is_a: HP:0001324 ! Muscle weakness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003326 name: Myalgia alt_id: HP:0003718 def: "Pain in muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle ache" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle pain" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Myalgias" RELATED plural_form [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:68962001 xref: UMLS:C0231528 is_a: HP:0012531 ! Pain [Term] id: HP:0003327 name: Axial muscle weakness def: "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1843697 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003328 name: Abnormal hairshaft morphology def: "An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin." [] xref: UMLS:C4025632 is_a: HP:0001595 ! Abnormal hair morphology [Term] id: HP:0003329 name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes xref: UMLS:C4025631 is_a: HP:0003328 ! Abnormal hairshaft morphology [Term] id: HP:0003330 name: Abnormal bone structure def: "Any anomaly in the composite material or the layered arrangement of the bony skeleton." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025630 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0003332 name: Absent primary metaphyseal spongiosa xref: UMLS:C3277126 is_a: HP:0005089 ! Abnormal metaphyseal trabeculation [Term] id: HP:0003333 name: Increased serum beta-hexosaminidase alt_id: HP:0008299 comment: This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. xref: UMLS:C2673361 is_a: HP:0011021 ! Abnormal circulating enzyme concentration [Term] id: HP:0003334 name: Elevated circulating catecholamine level def: "An abnormal increase in catecholamine concentration in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma. xref: UMLS:C4025629 is_a: HP:0012099 ! Abnormality of circulating catecholamine level [Term] id: HP:0003335 name: obsolete Low gonadotropins (secondary hypogonadism) is_obsolete: true replaced_by: HP:0000044 [Term] id: HP:0003336 name: Abnormal enchondral ossification alt_id: HP:0003331 def: "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage." [https://orcid.org/0000-0002-0736-9199] comment: This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy. xref: UMLS:C4025628 is_a: HP:0011849 ! Abnormal bone ossification [Term] id: HP:0003337 name: Reduced prothrombin consumption alt_id: HP:0008172 def: "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia." [https://orcid.org/0000-0002-0736-9199] synonym: "Poor prothrombin consumption" EXACT [] xref: UMLS:C4021732 is_a: HP:0012200 ! Abnormality of prothrombin [Term] id: HP:0003338 name: Focal necrosis of right ventricular muscle cells xref: UMLS:C4025627 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0003339 name: Pyrimidine-responsive megaloblastic anemia def: "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid." [https://orcid.org/0000-0002-0736-9199] synonym: "Anaemia corrected by uridylic acid and cytidylic acid" EXACT uk_spelling [] synonym: "Anemia corrected by uridylic acid and cytidylic acid" EXACT [] synonym: "Pyrimidine-responsive megaloblastic anaemia" EXACT uk_spelling [] xref: UMLS:C4021731 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0003340 name: obsolete Abnormal dermatological laboratory findings is_obsolete: true consider: HP:0000951 [Term] id: HP:0003341 name: Lamina lucida cleavage def: "The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin." [https://orcid.org/0000-0002-0736-9199] comment: Cleavage within the lamina lucida is observed in junctional epidermolysis bullosa. synonym: "Blistering with junctional split" EXACT [] synonym: "Junctional split" EXACT [] synonym: "Subepidermal blistering with cleavage in the lamina lucida" EXACT [] xref: UMLS:C4021730 is_a: HP:0033804 ! Subepidermal blistering [Term] id: HP:0003343 name: Reduced glutathione synthetase level def: "Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline." [PMID:17397529] synonym: "Glutathione synthetase deficiency" EXACT [] xref: SNOMEDCT_US:124706000 xref: SNOMEDCT_US:234589002 xref: SNOMEDCT_US:39112005 xref: UMLS:C0398746 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003344 name: 3-Methylglutaric aciduria def: "An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine." [PMID:19177531] synonym: "3-methylglutaricaciduria" EXACT [] xref: UMLS:C3151952 is_a: HP:0031980 ! Abnormal urine carboxylic acid level [Term] id: HP:0003345 name: Elevated urinary norepinephrine level def: "The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025626 is_a: HP:0011976 ! Elevated urinary catecholamine level [Term] id: HP:0003347 name: Impaired lymphocyte transformation with phytohemagglutinin def: "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes." [https://orcid.org/0000-0002-0736-9199] comment: The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis. xref: UMLS:C4025625 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0003348 name: Hyperalaninemia def: "An increased concentration of alanine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:16902722, PMID:4696900] comment: This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter. synonym: "Increased blood alanine" EXACT layperson [] synonym: "Increased serum alanine" EXACT layperson [] xref: SNOMEDCT_US:2359002 xref: UMLS:C0268630 xref: UMLS:C1839424 xref: UMLS:C1849489 is_a: HP:0010916 ! Abnormal circulating alanine concentration [Term] id: HP:0003349 name: Low cholesterol esterification rate def: "A reduction in the rate of cholesterol esterification." [https://orcid.org/0000-0002-0736-9199, PMID:3378364] comment: Cholesterol esterification converts free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source. xref: UMLS:C1843371 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003351 name: Decreased circulating renin concentration alt_id: HP:0003263 def: "An decreased level of renin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased circulating renin level" EXACT [] synonym: "Decreased plasma renin activity" EXACT [] synonym: "Low plasma renin activity" EXACT [] synonym: "Suppressed plasma renin activity" EXACT [] xref: UMLS:C1845206 is_a: HP:0040084 ! Abnormal circulating renin concentration [Term] id: HP:0003352 name: Endopolyploidy on chromosome studies of bone marrow def: "An increase in the number of chromosome sets per cell in bone marrow cells." [https://orcid.org/0000-0002-0736-9199] comment: Endopolyploidy is caused by replication without cell division. xref: UMLS:C4025624 is_a: HP:0002916 ! Abnormality of chromosome segregation [Term] id: HP:0003353 name: Propionyl-CoA carboxylase deficiency def: "An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase." [https://orcid.org/0000-0002-0736-9199] comment: Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids. xref: SNOMEDCT_US:124718009 xref: SNOMEDCT_US:69080001 xref: UMLS:C0268579 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003354 name: Hyperthreoninemia def: "An increased concentration of threonine in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated circulating threonine" EXACT [] synonym: "High blood threonine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1848861 is_a: HP:0010900 ! Abnormal circulating threonine concentration [Term] id: HP:0003355 name: Aminoaciduria alt_id: HP:0002903 alt_id: HP:0008335 alt_id: HP:0200014 def: "An increased concentration of an amino acid in the urine." [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormal urinary amino-acid findings" RELATED layperson [] synonym: "High urine amino acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperaminoaciduria" EXACT [] synonym: "Increased levels of animo acids in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:35912001 xref: UMLS:C0238621 xref: UMLS:C4020843 is_a: HP:0025745 ! Abnormal urine amino acid level [Term] id: HP:0003357 name: Thymic hormone decreased def: "A reduction in the level of thymic horomone." [PMID:7058086] synonym: "Decreased thymic hormone" EXACT [] xref: UMLS:C1857652 is_a: HP:0000777 ! Abnormal thymus morphology [Term] id: HP:0003358 name: Elevated intracellular cystine def: "An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells." [https://orcid.org/0000-0002-0736-9199] comment: Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond. xref: UMLS:C4025623 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003359 name: Decreased urinary sulfate def: "Decreased concentration of sulfate in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased urinary sulfate" EXACT layperson [] synonym: "Decreased urinary sulphate" EXACT uk_spelling [] xref: UMLS:C1848958 is_a: HP:0012612 ! Abnormal urinary sulfate concentration [Term] id: HP:0003361 name: Tryptophanuria def: "An increased concentration of tryptophan in the urine." [HPO_CONTRIBUTOR:gcarletti, PMID:18901181] comment: Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours. synonym: "High urine tryptophan levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:18789002 xref: UMLS:C0268472 is_a: HP:0033090 ! Increased aromatic amino acid level in urine [Term] id: HP:0003362 name: Increased VLDL cholesterol concentration def: "An increase in the amount of very-low-density lipoprotein cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Increased circulating very-low-density lipoprotein cholesterol" EXACT [] synonym: "Increased circulating very-low-density lipoprotein levels" EXACT [] synonym: "Increased plasma VLDL cholesterol" EXACT abbreviation [] xref: UMLS:C4021729 is_a: HP:0010980 ! Hyperlipoproteinemia is_a: HP:0031889 ! Abnormal VLDL cholesterol concentration [Term] id: HP:0003363 name: Abdominal situs inversus def: "A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen." [https://orcid.org/0000-0002-0736-9199] synonym: "Situs inversus visceralis" EXACT [] synonym: "Situs inversus viscerum" EXACT [] xref: Fyler:3816 xref: SNOMEDCT_US:27317008 xref: SNOMEDCT_US:43876007 xref: UMLS:C0037221 is_a: HP:0011620 ! Abnormality of abdominal situs [Term] id: HP:0003365 name: Arthralgia of the hip def: "Joint pain affecting the hip." [https://orcid.org/0000-0002-0736-9199] synonym: "Coxalgia" EXACT [] synonym: "Hip arthralgia" EXACT [] synonym: "Hip joint pain" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:49218002 xref: UMLS:C0019559 is_a: HP:0003272 ! Abnormal hip bone morphology [Term] id: HP:0003366 name: Abnormal femoral neck/head morphology synonym: "Abnormal neck or head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the femoral neck or head region" EXACT [] xref: UMLS:C4025622 is_a: HP:0002823 ! Abnormal femur morphology [Term] id: HP:0003367 name: Abnormal femoral neck morphology def: "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal neck of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the femoral neck" EXACT [] xref: UMLS:C4025621 is_a: HP:0003366 ! Abnormal femoral neck/head morphology [Term] id: HP:0003368 name: Abnormal femoral head morphology def: "An abnormality of the femoral head." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the femoral head" EXACT [] xref: UMLS:C4025620 is_a: HP:0003366 ! Abnormal femoral neck/head morphology [Term] id: HP:0003370 name: Flat capital femoral epiphysis alt_id: HP:0006393 def: "An abnormal flattening of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Flat capital femoral epiphyses" EXACT [] synonym: "Flat end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flat femoral capital epiphyses" EXACT [] synonym: "Flat proximal femoral epiphyses" EXACT [] synonym: "Flattened proximal femoral epiphyses" EXACT [] xref: UMLS:C1842155 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0030289 ! Flattened femoral epiphysis [Term] id: HP:0003371 name: Enlargement of the proximal femoral epiphysis def: "An abnormal enlargement of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged capital femoral epiphyses" EXACT [] synonym: "Enlarged end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859697 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003375 name: Narrow greater sciatic notch alt_id: HP:0008803 alt_id: HP:0008805 alt_id: HP:0008813 alt_id: HP:0008840 alt_id: HP:0008842 def: "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [https://orcid.org/0000-0002-0736-9199] comment: The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch. synonym: "Narrow greater sacrosciatic notches" EXACT plural_form [] synonym: "Narrow sacroiliac notch" EXACT [] synonym: "Narrow sacrosciatic notch" EXACT [] synonym: "Narrow sciatic notches" EXACT [] synonym: "Narrowed greater sciatic notch" EXACT [] synonym: "Narrowed sacrosciatic notch" EXACT [] synonym: "Small sacrosciatic notch" EXACT [] synonym: "Small sacrosciatic notches" EXACT [] xref: SNOMEDCT_US:289457006 xref: UMLS:C0566888 is_a: HP:0010456 ! Abnormal greater sciatic notch morphology [Term] id: HP:0003376 name: Steppage gait def: "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [https://orcid.org/0000-0002-0736-9199, PMID:27770207] synonym: "High stepping" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:27253007 xref: UMLS:C0427149 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0003378 name: Axonal degeneration/regeneration def: "A pattern of simultaneous degeneration and regeneration of axons (see comment)." [https://orcid.org/0000-0002-0736-9199] comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibers from the proximal nerve segment. synonym: "Axon degeneration and regeneration" EXACT [] xref: UMLS:C1968790 is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003380 name: Decreased number of peripheral myelinated nerve fibers alt_id: HP:0003385 alt_id: HP:0003386 alt_id: HP:0007093 alt_id: HP:0007135 alt_id: HP:0007177 alt_id: HP:0007320 alt_id: HP:0007322 def: "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy)." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by nerve biopsy. synonym: "Decreased number of large and small myelinated fibers" EXACT [] synonym: "Decreased number of large and small myelinated fibres" EXACT uk_spelling [] synonym: "Decreased number of peripheral myelinated nerve fibres" EXACT uk_spelling [] synonym: "Loss of myelinated fibers" EXACT [] synonym: "Loss of myelinated fibres" EXACT uk_spelling [] xref: UMLS:C1858285 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003382 name: Hypertrophic nerve changes xref: UMLS:C1832776 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003383 name: Onion bulb formation alt_id: HP:0003389 alt_id: HP:0007013 alt_id: HP:0007022 alt_id: HP:0007084 alt_id: HP:0008276 def: "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves." [https://orcid.org/0000-0002-0736-9199] comment: This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve. synonym: "Onion bulb formations" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1847906 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003384 name: Peripheral axonal atrophy def: "Atrophic changes of axons of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] comment: This finding is typically demonstrated by nerve biopsy. xref: UMLS:C4025619 is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003387 name: Decreased number of large peripheral myelinated nerve fibers alt_id: HP:0006868 alt_id: HP:0007031 alt_id: HP:0007315 def: "A reduced number of large myelinated nerve fibers." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by nerve biopsy. synonym: "Decreased number of large peripheral myelinated nerve fibres" EXACT uk_spelling [] synonym: "Depletion of large myelinated fibers" EXACT [] synonym: "Depletion of large myelinated fibres" EXACT uk_spelling [] synonym: "Loss of large myelinated fibers" EXACT [] synonym: "Loss of large myelinated fibres" EXACT uk_spelling [] synonym: "Loss of larger myelinated nerve fibers" EXACT [] synonym: "Loss of larger myelinated nerve fibres" EXACT uk_spelling [] xref: UMLS:C1859606 is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers [Term] id: HP:0003388 name: Easy fatigability def: "Increased susceptibility to fatigue." [https://orcid.org/0000-0002-0736-9199] comment: Fatigue describes the inability to continue performing a task after multiple repetitions. synonym: "Tired easily" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:248268002 xref: UMLS:C0424585 xref: UMLS:C1837098 is_a: HP:0004302 ! Functional motor deficit is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0003390 name: Sensory axonal neuropathy alt_id: HP:0006883 alt_id: HP:0007248 alt_id: HP:0007345 def: "An axonal neuropathy of peripheral sensory nerves." [https://orcid.org/0000-0002-0736-9199] synonym: "Axonal sensory neuropathy" EXACT [] synonym: "Peripheral sensory axonal neuropathy" RELATED [] xref: UMLS:C1842587 xref: UMLS:C1970883 is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0003391 name: Gowers sign def: "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Gower sign" EXACT [] synonym: "Positive Gower sign" EXACT [] synonym: "Positive Gowers sign" EXACT [] xref: SNOMEDCT_US:298294005 xref: SNOMEDCT_US:85905009 xref: UMLS:C0234182 xref: UMLS:C0575071 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003392 name: First dorsal interossei muscle weakness xref: UMLS:C1832277 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003393 name: Thenar muscle atrophy def: "Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb." [] synonym: "Thenar atrophy" EXACT [] xref: UMLS:C1864715 is_a: HP:0009130 ! Hand muscle atrophy [Term] id: HP:0003394 name: Muscle spasm alt_id: HP:0009018 alt_id: HP:0031988 def: "Sudden and involuntary contractions of one or more muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle cramps" EXACT plural_form [] synonym: "Muscle spasms" EXACT plural_form [] xref: SNOMEDCT_US:55300003 xref: UMLS:C0026821 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003396 name: Syringomyelia alt_id: HP:0006933 def: "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord." [https://orcid.org/0009-0006-4530-3154] synonym: "Fluid-filled cyst in spinal cord" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Syrinx" EXACT [] xref: SNOMEDCT_US:111496009 xref: UMLS:C0039144 is_a: HP:0100561 ! Spinal cord lesion [Term] id: HP:0003397 name: Generalized hypotonia due to defect at the neuromuscular junction synonym: "Generalised hypotonia due to defect at the neuromuscular junction" EXACT uk_spelling [] xref: UMLS:C1853950 is_a: HP:0001290 ! Generalized hypotonia is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003398 name: Abnormal synaptic transmission at the neuromuscular junction def: "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of neuromuscular transmission" RELATED [] xref: UMLS:C4020842 xref: UMLS:C4025618 is_a: HP:0030191 ! Abnormal peripheral nervous system synaptic transmission [Term] id: HP:0003400 name: Basal lamina onion bulb formation def: "A type of onion bulb formation prominently affecting the area of the basal lamina." [https://orcid.org/0000-0002-0736-9199] synonym: "Basal lamina 'onion bulb' formations on nerve biopsy" EXACT [] xref: UMLS:C1866637 is_a: HP:0003383 ! Onion bulb formation [Term] id: HP:0003401 name: Paresthesia alt_id: HP:0002082 def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [https://orcid.org/0000-0002-0736-9199] synonym: "Paresthesias" EXACT [] synonym: "Pins and needles feeling" EXACT layperson [] synonym: "Tingling" EXACT layperson [] xref: SNOMEDCT_US:91019004 xref: UMLS:C0030554 is_a: HP:0033747 ! Abnormal exteroceptive sensation [Term] id: HP:0003402 name: Decreased miniature endplate potentials def: "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [https://orcid.org/0000-0002-0736-9199] comment: Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft. synonym: "Decreased MEPP" EXACT [] synonym: "Small miniature endplate currents" EXACT [] synonym: "Small miniature endplate potentials" EXACT [] xref: UMLS:C1853952 is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003403 name: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation alt_id: HP:0003430 alt_id: HP:0003478 def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation." [https://orcid.org/0000-0002-0736-9199] comment: The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP. synonym: "EMG: decrement at repetitive stimulation" RELATED [] synonym: "EMG: decremental response of CMAP to repetitive nerve stimulation" EXACT [] xref: UMLS:C4020841 xref: UMLS:C4021728 is_a: HP:0100285 ! EMG: impaired neuromuscular transmission [Term] id: HP:0003405 name: Diffuse axonal swelling xref: UMLS:C1865417 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003406 name: Peripheral nerve compression xref: UMLS:C1851414 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003409 name: Distal sensory impairment of all modalities alt_id: HP:0006984 def: "Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities." [] synonym: "Distal sensory loss to all modalities" EXACT [] xref: UMLS:C1836527 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003411 name: Proximal femoral metaphyseal irregularity def: "Irregularity of the normally smooth surface of the proximal metaphysis of the femur." [] synonym: "Irregular proximal femoral metaphyses" EXACT [] xref: UMLS:C1836320 is_a: HP:0003366 ! Abnormal femoral neck/head morphology is_a: HP:0006431 ! Abnormal proximal femoral metaphysis morphology is_a: HP:0030291 ! Lower-limb metaphyseal irregularity [Term] id: HP:0003413 name: Atlantoaxial abnormality def: "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025617 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003414 name: Atlantoaxial dislocation def: "Partial dislocation of the atlantoaxial joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Atlanto-axial subluxation" EXACT [] synonym: "Atlantoaxial subluxation" EXACT [] xref: SNOMEDCT_US:263042007 xref: SNOMEDCT_US:45179004 xref: UMLS:C0263905 is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003416 name: Spinal canal stenosis alt_id: HP:0008446 def: "An abnormal narrowing of the spinal canal." [https://orcid.org/0000-0002-0736-9199] comment: Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column. subset: hposlim_core synonym: "Narrow spinal canal" EXACT layperson [] synonym: "Spinal stenosis" EXACT [] xref: UMLS:C1861329 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003417 name: Coronal cleft vertebrae alt_id: HP:0003673 def: "Frontal schisis (cleft or cleavage) of vertebral bodies." [https://orcid.org/0000-0002-0736-9199] comment: Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. synonym: "coronal cleft of vertebrae" EXACT [] synonym: "Coronal clefts" EXACT [] synonym: "Coronal vertebral clefts" EXACT [] synonym: "Vertebral coronal clefts" EXACT [] xref: UMLS:C1834954 is_a: HP:0008428 ! Vertebral clefting [Term] id: HP:0003418 name: Back pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back." [] synonym: "Back pain" EXACT layperson [] xref: SNOMEDCT_US:161891005 xref: UMLS:C0004604 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0012531 ! Pain [Term] id: HP:0003419 name: Low back pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back." [] synonym: "Lower back pain" EXACT [] synonym: "Lumbago" EXACT layperson [] xref: SNOMEDCT_US:279039007 xref: UMLS:C0024031 is_a: HP:0003418 ! Back pain [Term] id: HP:0003421 name: obsolete Platyspondyly (childhood) is_obsolete: true replaced_by: HP:0000926 [Term] id: HP:0003422 name: Vertebral segmentation defect alt_id: HP:0005705 def: "An abnormality related to a defect of vertebral separation during development." [https://orcid.org/0000-0002-0736-9199, PMID:23653580, PMID:23801490] comment: The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterfly vertebrae. subset: hposlim_core synonym: "Abnormal spinal segmentation" EXACT [] xref: SNOMEDCT_US:205455005 xref: UMLS:C0432163 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0003423 name: Thoracolumbar kyphoscoliosis synonym: "Dorsolumbar kyphosis" EXACT [] xref: UMLS:C1859335 is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0002944 ! Thoracolumbar scoliosis is_a: HP:0005619 ! Thoracolumbar kyphosis [Term] id: HP:0003426 name: First dorsal interossei muscle atrophy xref: UMLS:C1832278 is_a: HP:0007181 ! Interosseus muscle atrophy [Term] id: HP:0003427 name: Thenar muscle weakness xref: UMLS:C1832276 is_a: HP:0030237 ! Hand muscle weakness [Term] id: HP:0003429 name: CNS hypomyelination def: "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111007000 xref: UMLS:C0544820 xref: UMLS:C4025616 is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0003431 name: Decreased motor nerve conduction velocity alt_id: HP:0000760 alt_id: HP:0003379 alt_id: HP:0003395 alt_id: HP:0003437 alt_id: HP:0006907 alt_id: HP:0008170 def: "A type of decreased nerve conduction velocity that affects the motor neuron." [https://orcid.org/0000-0002-0736-9199] comment: Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers. synonym: "Decreased motor NCV" EXACT [] synonym: "Decreased motor nerve conduction velocities" EXACT [] synonym: "Reduced motor nerve conduction velocity" EXACT [] xref: UMLS:C1858729 is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040131 ! Abnormal motor nerve conduction velocity [Term] id: HP:0003434 name: Sensory ataxic neuropathy xref: UMLS:C1843859 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003435 name: Cold-induced hand cramps xref: UMLS:C1832279 is_a: HP:0003449 ! Cold-induced muscle cramps [Term] id: HP:0003436 name: Prolonged miniature endplate currents alt_id: HP:0003479 def: "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [https://orcid.org/0000-0002-0736-9199] synonym: "Prolonged MEPC" EXACT [] synonym: "Prolonged MEPP" EXACT [] synonym: "Prolonged miniature endplate potentials" EXACT [] xref: UMLS:C1864238 is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003438 name: Absent Achilles reflex alt_id: HP:0007032 alt_id: HP:0007241 def: "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent ankle reflexes" EXACT layperson [] xref: SNOMEDCT_US:274818004 xref: UMLS:C0558845 is_a: HP:0200101 ! Decreased/absent ankle reflexes [Term] id: HP:0003440 name: Horizontal sacrum subset: hposlim_core xref: UMLS:C1850558 is_a: HP:0005107 ! Abnormal sacrum morphology [Term] id: HP:0003443 name: Decreased size of nerve terminals def: "A reduction in the size of nerve terminals." [https://orcid.org/0000-0002-0736-9199] comment: Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy. xref: UMLS:C4025615 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003444 name: EMG: chronic denervation signs alt_id: HP:0007059 def: "Evidence of chronic denervation on electromyography." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed. xref: UMLS:C4025614 is_a: HP:0003445 ! EMG: neuropathic changes [Term] id: HP:0003445 name: EMG: neuropathic changes alt_id: HP:0002178 alt_id: HP:0002547 alt_id: HP:0007279 def: "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. synonym: "EMG: neurogenic abnormalities" EXACT [] synonym: "EMG: neurogenic changes" EXACT [] synonym: "EMG: neurogenic findings" EXACT [] xref: UMLS:C4021727 is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003447 name: Axonal loss alt_id: HP:0003360 def: "A reduction in the number of axons in the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be observed upon nerve biopsy. xref: UMLS:C1832338 is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003448 name: Decreased sensory nerve conduction velocity alt_id: HP:0006914 def: "Reduced speed of conduction of the action potential along a sensory nerve." [https://orcid.org/0000-0002-0736-9199] comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibers by the applied electrical impulse. synonym: "Decreased sensory NCV" EXACT [] synonym: "Decreased sensory nerve conduction velocities" EXACT [] xref: UMLS:C1849148 is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040132 ! Abnormal sensory nerve conduction velocity [Term] id: HP:0003449 name: Cold-induced muscle cramps def: "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1861675 is_a: HP:0003394 ! Muscle spasm [Term] id: HP:0003450 name: Axonal regeneration def: "The presence of axonal regeneration following a previous axonal lesion." [https://orcid.org/0000-0002-0736-9199] comment: This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information. synonym: "Regenerative activity on nerve biopsy" EXACT [] xref: UMLS:C1854454 is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003451 name: Increased rate of premature chromosome condensation def: "An increased rate of premature chromosome condensation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025613 is_a: HP:0011019 ! Abnormality of chromosome condensation [Term] id: HP:0003452 name: Increased circulating iron concentration def: "The concentration of iron in the blood circulation is above the upper limit of normal." [] synonym: "Increased serum iron" EXACT [] xref: SNOMEDCT_US:165624002 xref: UMLS:C0151900 is_a: HP:0040130 ! Abnormal circulating iron concentration [Term] id: HP:0003453 name: Antineutrophil antibody positivity def: "The presence of autoantibodies in the serum that react against neutrophils." [https://orcid.org/0000-0002-0736-9199] comment: Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive. synonym: "Antineutrophil antibodies" EXACT [] synonym: "Neutrophil antibody positive" EXACT [] xref: UMLS:C1858981 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003454 name: Platelet antibody positive def: "The presence in the serum of autoantibodies directed against thrombocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Platelet antibody" EXACT [] xref: UMLS:C1858980 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003455 name: Elevated circulating long chain fatty acid concentration alt_id: HP:0008333 alt_id: HP:0045016 def: "Increased concentration of long-chain fatty acids in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes. synonym: "Elevated long chain fatty acids" EXACT [] synonym: "Elevated serum long-chain fatty acids" EXACT [] synonym: "Increased serum long-chain fatty acids" EXACT [] xref: UMLS:C1859241 is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration [Term] id: HP:0003456 name: Low urinary cyclic AMP response to PTH administration xref: UMLS:C1864105 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003457 name: EMG abnormality alt_id: HP:0002177 alt_id: HP:0003751 alt_id: HP:0003753 alt_id: HP:0100286 def: "Abnormal results of investigations using electromyography (EMG)." [https://orcid.org/0000-0002-0736-9199, PMID:15961866, PMID:18751841] synonym: "Abnormal electromyography finding" EXACT [] synonym: "Abnormal EMG" EXACT [] synonym: "Electromyogram abnormal" EXACT [] synonym: "EMG abnormalities" EXACT [] xref: SNOMEDCT_US:274523007 xref: UMLS:C0476403 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003458 name: EMG: myopathic abnormalities alt_id: HP:0003322 alt_id: HP:0003711 alt_id: HP:0009021 def: "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [https://orcid.org/0000-0002-0736-9199] synonym: "EMG: myopathic changes" EXACT [] synonym: "EMG: myopathy" EXACT [] synonym: "Myopathic electromyogram" EXACT [] xref: UMLS:C4021726 is_a: HP:0003198 ! Myopathy is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003459 name: Polyclonal elevation of IgM def: "A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis." [PMID:11508831] xref: UMLS:C4025612 is_a: HP:0003496 ! Increased circulating IgM level [Term] id: HP:0003460 name: Decreased circulating total IgA def: "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased total IgA in blood" EXACT [] synonym: "Total immunoglobulin A deficiency" EXACT [] xref: UMLS:C4025611 is_a: HP:0002720 ! Decreased circulating IgA concentration [Term] id: HP:0003461 name: Increased urinary O-linked sialopeptides def: "Excretion of peptides conjugated to sialic acid in the urine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1836533 is_a: HP:0012067 ! Glycopeptiduria [Term] id: HP:0003462 name: Elevated 8-dehydrocholesterol xref: UMLS:C1840013 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration [Term] id: HP:0003463 name: Increased extraneuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [https://orcid.org/0000-0002-0736-9199, PMID:11406682] synonym: "Lipopigment in extraneuronal cells" RELATED [] xref: UMLS:C1859828 is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0003464 name: obsolete Abnormal cholesterol homeostasis is_obsolete: true replaced_by: HP:0003107 [Term] id: HP:0003465 name: Elevated 8(9)-cholestenol xref: UMLS:C1840014 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration [Term] id: HP:0003466 name: Paradoxical increased cortisol secretion on dexamethasone suppression test xref: UMLS:C1968855 is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0003467 name: Atlantoaxial instability def: "Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly." [https://orcid.org/0000-0002-0736-9199] comment: Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord. subset: hposlim_core xref: SNOMEDCT_US:202820009 xref: UMLS:C0410653 is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003468 name: Abnormal vertebral morphology alt_id: HP:0005719 def: "An abnormality of one or more of the vertebrae." [https://orcid.org/0000-0002-0736-9199] comment: A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). synonym: "Abnormal vertebrae" EXACT [] synonym: "Abnormality of the vertebrae" EXACT [] synonym: "Multiple vertebral anomalies" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Vertebral anomalies" EXACT [] xref: Fyler:4108 xref: SNOMEDCT_US:205043005 xref: SNOMEDCT_US:74877002 xref: UMLS:C0158775 xref: UMLS:C4020839 xref: UMLS:C4020840 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003469 name: Peripheral dysmyelination def: "Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025610 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003470 name: Paralysis def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [https://orcid.org/0000-0002-0736-9199] synonym: "Inability to move" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Paralysis" EXACT layperson [] xref: SNOMEDCT_US:44695005 xref: UMLS:C0522224 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0003472 name: Hypocalcemic tetany def: "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:190869004 xref: UMLS:C0151940 is_a: HP:0002901 ! Hypocalcemia is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0003473 name: Fatigable weakness alt_id: HP:0003399 alt_id: HP:0003428 alt_id: HP:0100794 def: "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [https://orcid.org/0000-0002-0736-9199] comment: This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. synonym: "Fatigable weakness of limb muscles" EXACT [] synonym: "Generalised muscle weakness due to defect at the neuromuscular junction" EXACT uk_spelling [] synonym: "Generalized muscle weakness due to defect at the neuromuscular junction" EXACT [] synonym: "Myasthenia" EXACT [] synonym: "Myasthenic weakness" EXACT [] synonym: "Proximal muscle weakness due to defect at the neuromuscular junction" EXACT [] xref: UMLS:C0947912 is_a: HP:0001324 ! Muscle weakness is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003474 name: Somatic sensory dysfunction alt_id: HP:0100964 def: "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing." [https://orcid.org/0000-0002-0736-9199] comment: This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. synonym: "Sensory impairment" EXACT [] xref: SNOMEDCT_US:397974008 xref: SNOMEDCT_US:398026008 xref: SNOMEDCT_US:59073000 xref: UMLS:C0020580 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0003477 name: Peripheral axonal neuropathy alt_id: HP:0006814 alt_id: HP:0006842 alt_id: HP:0007169 alt_id: HP:0008304 def: "An abnormality characterized by disruption of the normal functioning of peripheral axons." [https://orcid.org/0000-0002-0736-9199] comment: This abnormality can be assay by electromyography (EMG) or by nerve biopsy. synonym: "Axonal neuropathy" EXACT [] synonym: "Axonal peripheral neuropathy" EXACT [] xref: SNOMEDCT_US:128208007 xref: SNOMEDCT_US:60703000 xref: UMLS:C0270921 xref: UMLS:C1263857 is_a: HP:0000764 ! Peripheral axonal degeneration is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003481 name: Segmental peripheral demyelination/remyelination alt_id: HP:0003425 def: "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves." [https://orcid.org/0000-0002-0736-9199] synonym: "Segmental demyelination/remyelination" EXACT [] xref: UMLS:C1843077 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0003482 name: EMG: axonal abnormality def: "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. xref: UMLS:C4025609 is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003484 name: Upper limb muscle weakness def: "Weakness of the muscles of the arms." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased arm strength" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Weak arm" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:713512009 xref: UMLS:C1698196 is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0003487 name: Babinski sign alt_id: HP:0001352 def: "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [https://orcid.org/0000-0002-0736-9199] comment: A positive Babinski sign can indicate damage to the corticospinal tract. synonym: "Extensor plantar reflexes" EXACT [] synonym: "Extensor plantar response" EXACT [] synonym: "Extensor plantar responses" EXACT [] synonym: "Positive Babinski sign" EXACT [] xref: SNOMEDCT_US:246586009 xref: SNOMEDCT_US:366575004 xref: UMLS:C0034935 is_a: HP:0007256 ! Abnormal pyramidal sign is_a: HP:0031828 ! Abnormal superficial reflex [Term] id: HP:0003489 name: Acute episodes of neuropathic symptoms comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). xref: UMLS:C1867971 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003490 name: obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA is_obsolete: true replaced_by: HP:0003150 [Term] id: HP:0003491 name: Elevated urine pyrophosphate def: "An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025607 is_a: HP:0033354 ! Abnormal urine metabolite level [Term] id: HP:0003492 name: High urinary gonadotropin level def: "An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism." [] comment: 'has part' some ('increased amount' and ('inheres in' some ('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal)) xref: UMLS:C4025606 is_a: HP:0012029 ! Abnormal urine hormone level [Term] id: HP:0003493 name: Antinuclear antibody positivity def: "The presence of autoantibodies in the serum that react against nuclei or nuclear components." [https://orcid.org/0000-0002-0736-9199] comment: Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim. synonym: "Antinuclear antibodies" EXACT [] synonym: "Antinuclear antibody positive" EXACT [] synonym: "Elevated antinuclear antibody" EXACT [] synonym: "Serum antinuclear antibody" EXACT [] xref: SNOMEDCT_US:165850001 xref: UMLS:C0151480 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003494 name: obsolete Loss of heterozygosity, multiple chromosomes is_obsolete: true consider: HP:0000005 [Term] id: HP:0003495 name: GM2-ganglioside accumulation def: "Cellular accumulation of GM2 gangliosides." [PMID:30524313] comment: Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue. xref: UMLS:C1848920 is_a: HP:0004345 ! Ganglioside accumulation [Term] id: HP:0003496 name: Increased circulating IgM level alt_id: HP:0002962 def: "An abnormally increased level of immunoglobulin M in blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased IgM levels" EXACT [] synonym: "Increased levels of IgM" EXACT [] xref: UMLS:C1839972 is_a: HP:0010702 ! Increased circulating immunoglobulin concentration is_a: HP:0410243 ! Abnormal circulating IgM concentration [Term] id: HP:0003498 name: Disproportionate short stature alt_id: HP:0008895 alt_id: HP:0008900 def: "A kind of short stature in which different regions of the body are shortened to differing extents." [https://orcid.org/0000-0002-0736-9199] synonym: "Short stature, disproportionate" EXACT [] synonym: "Short stature, severe disproportionate" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0878659 xref: UMLS:C1846797 is_a: HP:0004322 ! Short stature [Term] id: HP:0003502 name: Mild short stature alt_id: HP:0003503 alt_id: HP:0008879 alt_id: HP:0008908 def: "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex." [https://orcid.org/0000-0002-6410-0882] synonym: "Relative short stature" RELATED [] synonym: "short stature, mild" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3150077 xref: UMLS:C4020838 is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0003508 name: Proportionate short stature alt_id: HP:0003499 def: "A kind of short stature in which different regions of the body are shortened to a comparable extent." [https://orcid.org/0000-0002-0736-9199] synonym: "Proportionate small stature" EXACT [] synonym: "Short stature, proportionate" EXACT [] xref: UMLS:C0878660 is_a: HP:0004322 ! Short stature [Term] id: HP:0003510 name: Severe short stature alt_id: HP:0001424 alt_id: HP:0001516 alt_id: HP:0003504 alt_id: HP:0008867 alt_id: HP:0008884 alt_id: HP:0008907 alt_id: HP:0008920 alt_id: HP:0008930 def: "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." [https://orcid.org/0000-0002-0736-9199] comment: The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). synonym: "Dwarfism" EXACT layperson [] synonym: "Proportionate dwarfism" EXACT layperson [] synonym: "Severe short stature" EXACT layperson [] synonym: "Short stature, extreme" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Short stature, severe" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:237836003 xref: SNOMEDCT_US:237837007 xref: SNOMEDCT_US:422065006 xref: UMLS:C0013336 is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0003513 name: Reduced ratio of renal calcium clearance to creatinine clearance def: "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01." [https://orcid.org/0000-0002-0736-9199] synonym: "Reduced ration of kidney calcium clearance to creatinine clearance" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Reduced ration of renal Ca clearance to creatinine clearance" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Reduced ration of renal Ca2+ to creatinine clearance" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4025605 is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0003514 name: Deficiency or absence of cytochrome b(-245) synonym: "Deficiency or absence of cytochrome b" EXACT [] xref: UMLS:C1844390 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003517 name: Birth length greater than 97th percentile synonym: "Fetal overgrowth" EXACT [] synonym: "Foetal overgrowth" EXACT uk_spelling [] xref: UMLS:C1839271 is_a: HP:0000098 ! Tall stature [Term] id: HP:0003521 name: Disproportionate short-trunk short stature alt_id: HP:0001524 alt_id: HP:0003500 alt_id: HP:0008923 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Disproportionate short-trunked dwarfism" EXACT layperson [] synonym: "Disproportionate short-trunked short stature" EXACT layperson [] synonym: "Short-trunked dwarfism" EXACT layperson [] xref: UMLS:C1846435 is_a: HP:0003498 ! Disproportionate short stature is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0003524 name: Decreased methionine synthase activity def: "A reduction in methionine synthase activity." [https://orcid.org/0000-0002-0736-9199] comment: Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine. synonym: "Decreased activity of methionine synthase" EXACT [] synonym: "Methionine synthase activity decreased" EXACT [] synonym: "Methionine synthase deficiency" EXACT [] synonym: "Reduced methionine synthase activity" EXACT [] xref: UMLS:C1848580 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003526 name: Orotic acid crystalluria def: "Formation of crystals owing to an increased concentration of orotic acid in the urine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3278626 is_a: HP:0020074 ! Crystalluria [Term] id: HP:0003527 name: Hyperprostaglandinuria def: "An increased concentration of prostaglandin in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine prostaglandin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1866498 is_a: HP:6000531 ! Abnormal urinary organic compound level [Term] id: HP:0003528 name: Elevated circulating calcitonin concentration def: "Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal." [] comment: Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. synonym: "Elevated calcitonin" EXACT layperson [] xref: UMLS:C1868394 is_a: HP:0034902 ! Abnormal circulating calcitonin concentration [Term] id: HP:0003529 name: Parathormone-independent increased renal tubular calcium reabsorption def: "An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels." [https://orcid.org/0000-0002-0736-9199, PMID:23802516] comment: This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis. synonym: "Parathormone-independent increased renal tubular Ca reabsorption" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Parathormone-independent increased renal tubular Ca2+ reabsorption" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4025604 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003530 name: Elevated circulating glutaric acid concentration def: "An increased concentration of glutaric acid in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Glutarate acidemia" EXACT [https://orcid.org/0000-0001-9969-8610] synonym: "Glutaric acidemia" EXACT [] xref: UMLS:C4025603 is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration is_a: HP:0032368 ! Acidemia [Term] id: HP:0003532 name: Ornithinuria def: "Level of ornithine in the urine above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Ornithine high in urine" EXACT [] xref: UMLS:C4025602 is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level [Term] id: HP:0003533 name: Reduced acetaldehyde dehydrogenase level def: "Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism." [PMID:17718394] comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. synonym: "Delayed oxidation of acetaldehyde" EXACT [] xref: UMLS:C4025601 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003534 name: Reduced xanthine dehydrogenase level def: "An abnormal reduction in xanthine dehydrogenase level." [https://orcid.org/0000-0002-0736-9199] comment: This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+. synonym: "Xanthine dehydrogenase deficiency" RELATED [] xref: SNOMEDCT_US:124147007 xref: SNOMEDCT_US:72682008 xref: UMLS:C0268118 xref: UMLS:C4025600 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003535 name: 3-Methylglutaconic aciduria def: "An increased amount of 3-methylglutaconic acid in the urine." [] comment: 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. synonym: "3-Methylglutaconicaciduria" EXACT [] xref: SNOMEDCT_US:237950009 xref: UMLS:C3696376 is_a: HP:0031980 ! Abnormal urine carboxylic acid level [Term] id: HP:0003536 name: Decreased fumarate hydratase activity def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity." [https://orcid.org/0000-0002-0736-9199] comment: Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate. xref: UMLS:C1853903 is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003537 name: Hypouricemia def: "An abnormally low level of uric acid in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood uric acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:4519003 xref: UMLS:C0221333 is_a: HP:0002157 ! Azotemia is_a: HP:0010932 ! Abnormal circulating nucleobase concentration [Term] id: HP:0003538 name: Increased iduronate sulfatase level def: "An increased level of iduronate-2-sulfatase activity in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta. synonym: "Increased serum iduronate sulfatase" RELATED [] synonym: "Increased serum iduronate sulfatase level" EXACT [] xref: UMLS:C2673363 xref: UMLS:C4025599 is_a: HP:0034202 ! Abnormal iduronate sulfatase concentration [Term] id: HP:0003540 name: Impaired platelet aggregation alt_id: HP:0008177 def: "An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [https://orcid.org/0000-0002-7744-1790] synonym: "Defective platelet aggregation" EXACT [] synonym: "Deficient platelet aggregation" EXACT [] synonym: "Platelet aggregation defect" EXACT [] xref: UMLS:C1855853 is_a: HP:0030402 ! Abnormal platelet aggregation [Term] id: HP:0003541 name: Urinary glycosaminoglycan excretion def: "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025598 is_a: HP:0033354 ! Abnormal urine metabolite level [Term] id: HP:0003542 name: Increased circulating pyruvate concentration def: "The concentration of pyruvate in the blood circulation is above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti] comment: An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle. synonym: "Increased serum pyruvate" EXACT [] synonym: "Increased serum pyruvic acid" EXACT [] xref: UMLS:C1849488 is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid concentration [Term] id: HP:0003546 name: Exercise intolerance def: "A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender." [PMID:10617757] synonym: "Decreased ability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757] synonym: "Inability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757] synonym: "Low exercise endurance" EXACT [] synonym: "Poor exercise tolerance" EXACT [] xref: SNOMEDCT_US:267044007 xref: UMLS:C0424551 is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0003547 name: Shoulder girdle muscle weakness alt_id: HP:0003695 alt_id: HP:0009009 def: "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle weakness, shoulder-girdle" EXACT [] synonym: "Shoulder girdle weakness" EXACT [] synonym: "Shoulder weakness" EXACT [] synonym: "Weak shoulder muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:249940002 xref: UMLS:C0427063 xref: UMLS:C0748691 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003548 name: Subsarcolemmal accumulations of abnormally shaped mitochondria def: "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies. xref: UMLS:C4025597 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003549 name: Abnormality of connective tissue def: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025596 is_a: HP:0033127 ! Abnormality of the musculoskeletal system [Term] id: HP:0003550 name: Predominantly lower limb lymphedema def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1835228 is_a: HP:0001004 ! Lymphedema [Term] id: HP:0003551 name: Difficulty climbing stairs alt_id: HP:0007019 def: "Reduced ability to climb stairs." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty walking up stairs" EXACT layperson [] xref: SNOMEDCT_US:282195009 xref: UMLS:C0239067 is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0003552 name: Muscle stiffness alt_id: HP:0009014 def: "A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:16046003 xref: UMLS:C0221170 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003553 name: obsolete Cellulitis due to immunodeficiency is_obsolete: true replaced_by: HP:0100658 [Term] id: HP:0003554 name: Type 2 muscle fiber atrophy def: "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by muscle biopsy. synonym: "Type 2 fiber atrophy" EXACT [] synonym: "Type 2 fibre atrophy" EXACT uk_spelling [] synonym: "Type 2 muscle fibre atrophy" EXACT uk_spelling [] xref: UMLS:C1864580 is_a: HP:0100295 ! Muscle fiber atrophy [Term] id: HP:0003555 name: Muscle fiber splitting def: "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [PMID:6123177] synonym: "Fiber splitting" EXACT [] synonym: "Fibre splitting" EXACT [] synonym: "Muscle fiber splitting" EXACT [] xref: UMLS:C1836057 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003557 name: Increased variability in muscle fiber diameter alt_id: HP:0003556 def: "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by muscle biopsy. synonym: "Increased fiber size variation" EXACT [] synonym: "Increased fibre size variation" EXACT uk_spelling [] synonym: "Increased variability in muscle fiber size" EXACT [] synonym: "Increased variability in muscle fibre diameter" EXACT uk_spelling [] synonym: "Increased variability in muscle fibre size" EXACT uk_spelling [] synonym: "Increased variation in fiber size" EXACT [] synonym: "Increased variation in fibre size" EXACT uk_spelling [] synonym: "Increased variation in muscle fiber size" EXACT [] synonym: "Increased variation in muscle fibre size" EXACT uk_spelling [] synonym: "Variation in muscle fiber size" EXACT [] synonym: "Variation in muscle fibre size" EXACT uk_spelling [] xref: UMLS:C1843700 is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size [Term] id: HP:0003558 name: Viral infection-induced rhabdomyolysis def: "Rhabdomyolysis induced by a viral infection." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025595 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0003559 name: Muscle hyperirritability xref: UMLS:C1853701 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003560 name: Muscular dystrophy alt_id: HP:0003544 alt_id: HP:0003741 alt_id: HP:0003793 alt_id: HP:0003806 alt_id: HP:0007081 def: "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities." [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199] comment: Muscular dystrophy can be demonstrated by muscle biopsy. synonym: "Congenital muscular dystrophy" NARROW [] synonym: "Muscle biopsy shows dystrophic changes" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:193225000 xref: SNOMEDCT_US:73297009 xref: UMLS:C0026850 xref: UMLS:C1864711 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003561 name: Birth length less than 3rd percentile synonym: "Birth length < 3rd percentile" EXACT [] synonym: "Birth length <3rd percentile" EXACT [] xref: UMLS:C1855650 is_a: HP:0004322 ! Short stature [Term] id: HP:0003562 name: Abnormal metaphyseal vascular invasion xref: UMLS:C3277127 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0003563 name: Decreased LDL cholesterol concentration def: "An decreased concentration of low-density lipoprotein cholesterol in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. synonym: "Decreased circulating low-density lipoprotein levels" EXACT [] synonym: "Decreased LDL" RELATED abbreviation [] synonym: "Decreased LDLc concentration" EXACT abbreviation [] synonym: "Hypobetalipoproteinemia" EXACT [] xref: SNOMEDCT_US:190786004 xref: UMLS:C0020597 xref: UMLS:C0853085 is_a: HP:0010981 ! Hypolipoproteinemia is_a: HP:0031886 ! Abnormal LDL cholesterol concentration [Term] id: HP:0003564 name: Folate-dependent fragile site at Xq28 def: "The presence of a folate sensitive fragile site at chromosome Xq28." [https://orcid.org/0000-0002-0736-9199] comment: Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA). xref: UMLS:C1839785 is_a: HP:0040012 ! Chromosome breakage [Term] id: HP:0003565 name: Elevated erythrocyte sedimentation rate def: "An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen." [PMID:10524488] synonym: "Elevated ESR" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated sedimentation rate" EXACT [] synonym: "High erythrocyte sedimentation rate" EXACT [] synonym: "High ESR" EXACT layperson [] synonym: "Increased erythrocyte sedimentation rate" EXACT [] synonym: "Raised erythrocyte sedimentation rate" EXACT [] xref: SNOMEDCT_US:165468009 xref: UMLS:C0151632 is_a: HP:0025021 ! Abnormal erythrocyte sedimentation rate is_a: HP:0033331 ! Acute phase response [Term] id: HP:0003566 name: Increased serum prostaglandin E2 alt_id: HP:0008298 def: "An increased concentration of prostaglandin E2 in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated prostaglandin E2" EXACT [] xref: UMLS:C3150358 is_a: HP:0011023 ! Abnormal circulating prostaglandin circulation [Term] id: HP:0003568 name: Decreased glucosephosphate isomerase level alt_id: HP:0003290 def: "A decreased level of glucose-6-phosphate isomerase." [HPO_CONTRIBUTOR:gcarletti] comment: Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9). synonym: "Decreased glucose phosphate isomerase activity" EXACT [] synonym: "Glucosephosphate isomerase deficiency" EXACT [] synonym: "Phosphohexose isomerase deficiency" EXACT [] xref: SNOMEDCT_US:124669001 xref: UMLS:C1291611 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003570 name: Molybdenum cofactor deficiency def: "Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:29692004 xref: UMLS:C0268119 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003571 name: Propionic acidemia def: "Increased concentration of proprionic acid in the blood circulation." [PMID:22593918] xref: SNOMEDCT_US:124718009 xref: SNOMEDCT_US:69080001 xref: UMLS:C0268579 is_a: HP:0032368 ! Acidemia [Term] id: HP:0003572 name: Low plasma citrulline def: "A decreased concentration of citrulline in the blood." [HPO_CONTRIBUTOR:gcarletti] xref: UMLS:C1839532 is_a: HP:0011965 ! Abnormal circulating citrulline concentration [Term] id: HP:0003573 name: Increased total bilirubin alt_id: HP:0008168 def: "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High bili total" EXACT layperson [] synonym: "Increased bilirubin" EXACT [] xref: SNOMEDCT_US:176271000119108 xref: UMLS:C0741494 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003574 name: Positive regitine blocking test def: "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension." [https://orcid.org/0000-0002-0736-9199] comment: Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and blood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites. xref: UMLS:C4025594 is_a: HP:0002640 ! Hypertension associated with pheochromocytoma [Term] id: HP:0003575 name: Increased intracellular sodium def: "An abnormally increased sodium concentration in the cytosol." [HPO_CONTRIBUTOR:gcarletti] synonym: "High intracellular Na" EXACT [] synonym: "Increased intracellular Na+ levels" EXACT [] xref: UMLS:C4025593 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003577 name: Congenital onset alt_id: HP:0003595 alt_id: HP:0003601 alt_id: HP:0003624 alt_id: HP:0003660 alt_id: HP:0003666 def: "A phenotypic abnormality that is present at birth." [https://orcid.org/0000-0002-0736-9199] comment: Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674). synonym: "Onset at birth" EXACT [] synonym: "Symptoms present at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1836142 xref: UMLS:C2752013 is_a: HP:0003674 ! Onset [Term] id: HP:0003581 name: Adult onset alt_id: HP:0003585 alt_id: HP:0003598 alt_id: HP:0003627 alt_id: HP:0003662 alt_id: HP:0003669 def: "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." [https://orcid.org/0000-0002-0736-9199] synonym: "Onset in adulthood" EXACT [] synonym: "Onset in early adulthood" EXACT [] synonym: "Symptoms begin in adulthood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1853562 is_a: HP:0003674 ! Onset [Term] id: HP:0003584 name: Late onset def: "A type of adult onset with onset of symptoms after the age of 60 years." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025592 is_a: HP:0003581 ! Adult onset [Term] id: HP:0003587 name: Insidious onset def: "Gradual, very slow onset of disease manifestations." [https://orcid.org/0000-0002-0736-9199] synonym: "Gradual onset" EXACT layperson [] xref: SNOMEDCT_US:367326009 xref: SNOMEDCT_US:61751001 xref: UMLS:C0332164 xref: UMLS:C1298634 is_a: HP:0011008 ! Temporal pattern [Term] id: HP:0003593 name: Infantile onset alt_id: HP:0003576 alt_id: HP:0003579 alt_id: HP:0003591 alt_id: HP:0003594 alt_id: HP:0003599 alt_id: HP:0003600 alt_id: HP:0003629 alt_id: HP:0003631 alt_id: HP:0003667 alt_id: HP:0003672 alt_id: HP:0010573 def: "Onset of signs or symptoms of disease between 28 days to one year of life." [https://orcid.org/0000-0002-0736-9199] comment: Onset of signs or symptoms of disease within the first 12 months of life. synonym: "Infantile onset" EXACT layperson [] synonym: "Onset in first year of life" EXACT layperson [] synonym: "Onset in infancy" EXACT layperson [] xref: UMLS:C1848924 is_a: HP:0410280 ! Pediatric onset [Term] id: HP:0003596 name: Middle age onset def: "A type of adult onset with onset of symptoms at the age of 40 to 60 years." [https://orcid.org/0000-0002-0736-9199] comment: Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. xref: UMLS:C1969363 is_a: HP:0003581 ! Adult onset [Term] id: HP:0003606 name: Absent urinary urothione def: "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:6960353] comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. xref: UMLS:C4025591 is_a: HP:0033354 ! Abnormal urine metabolite level [Term] id: HP:0003607 name: 4-hydroxyphenylacetic aciduria alt_id: HP:0033304 def: "Increased concentration of 4-hydroxyphenylacetic acid in the urine." [https://orcid.org/0000-0002-0736-9199] comment: 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. synonym: "Elevated urine 4-hydroxyphenylacetic acid level" EXACT [] xref: UMLS:C1848680 is_a: HP:0040156 ! Elevated urinary carboxylic acid [Term] id: HP:0003609 name: Foam cells with lamellar inclusion bodies def: "The presence of foam cells that contain lamellar inclusion bodies." [https://orcid.org/0000-0002-0736-9199] comment: Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy. xref: UMLS:C4025590 is_a: HP:0003651 ! Foam cells [Term] id: HP:0003610 name: Fibroblast metachromasia def: "Increased cytoplasmic staining of fibroblasts with toluidine blue." [https://orcid.org/0000-0002-0736-9199, PMID:4195824] comment: Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia. xref: UMLS:C1835008 is_a: HP:0003653 ! Cellular metachromasia [Term] id: HP:0003612 name: Positive ferric chloride test def: "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood." [https://orcid.org/0000-0002-0736-9199] comment: The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevated in phenylketonuria. synonym: "Positive FeCl3 test" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4025589 is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration [Term] id: HP:0003613 name: Antiphospholipid antibody positivity def: "The presence of circulating autoantibodies to phospholipids." [https://orcid.org/0000-0002-0736-9199] comment: This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies. synonym: "Antiphospholipid antibodies" EXACT [] synonym: "Antiphospholipid antibody" EXACT [] synonym: "Phospholipid antibody positivity" EXACT [] xref: UMLS:C4019436 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003614 name: Trimethylaminuria def: "Increased concentration of trimethylamine in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Increased concentration of trimethylamine, an organic amino compound with an odor characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. synonym: "High urine trimethylamine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:237959005 xref: UMLS:C0342739 is_a: HP:0033354 ! Abnormal urine metabolite level [Term] id: HP:0003616 name: Premature separation of centromeric heterochromatin xref: UMLS:C1849316 is_a: HP:0200024 ! Premature chromatid separation [Term] id: HP:0003621 name: Juvenile onset alt_id: HP:0003578 alt_id: HP:0003580 alt_id: HP:0003582 alt_id: HP:0003583 alt_id: HP:0003589 alt_id: HP:0003592 alt_id: HP:0003604 alt_id: HP:0003619 alt_id: HP:0003620 alt_id: HP:0003625 alt_id: HP:0003659 alt_id: HP:0003661 alt_id: HP:0003670 def: "Onset of signs or symptoms of disease between the age of 5 and 15 years." [https://orcid.org/0000-0002-0736-9199] synonym: "Signs and symptoms begin before 15 years of age" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C4025588 is_a: HP:0410280 ! Pediatric onset [Term] id: HP:0003623 name: Neonatal onset alt_id: HP:0003622 def: "Onset of signs or symptoms of disease within the first 28 days of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Neonatal onset" EXACT layperson [] synonym: "Onset in first weeks of life" EXACT [] synonym: "Onset in neonatal period" EXACT [] xref: UMLS:C1855106 is_a: HP:0003674 ! Onset [Term] id: HP:0003634 name: Amyoplasia alt_id: HP:0008990 def: "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199] synonym: "Absent muscles since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Congenital absence of muscles" EXACT [] xref: SNOMEDCT_US:205532005 xref: UMLS:C0432185 is_a: HP:0100854 ! Aplasia of the musculature [Term] id: HP:0003635 name: Loss of subcutaneous adipose tissue in limbs alt_id: HP:0003757 def: "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Loss of fat tissue below the skin in limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT [] xref: UMLS:C1837764 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0003637 name: Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity def: "Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-0736-9199] comment: Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. synonym: "Reduced 4-Hydroxyphenylpyruvate dioxygenase level" EXACT [] synonym: "Reducted HPPD activity" EXACT abbreviation [] xref: UMLS:C4025587 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003639 name: Elevated urinary epinephrine level def: "The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urinary epinephrine" EXACT [] xref: UMLS:C1868393 is_a: HP:0011976 ! Elevated urinary catecholamine level [Term] id: HP:0003640 name: CNS foam cells def: "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system." [] xref: UMLS:C1843373 is_a: HP:0003651 ! Foam cells [Term] id: HP:0003641 name: Hemoglobinuria def: "The presence of free hemoglobin in the urine." [https://orcid.org/0000-0002-0736-9199] comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. synonym: "Haemoglobin in urine" EXACT uk_spelling [] synonym: "Hemoglobin in urine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:68600005 xref: UMLS:C0019048 is_a: HP:0033354 ! Abnormal urine metabolite level [Term] id: HP:0003642 name: Type I transferrin isoform profile def: "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II." [https://orcid.org/0000-0002-0736-9199, PMID:15105360, PMID:22516080] comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal. synonym: "Abnormal isoelectric focusing of serum transferrin, type I pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with CDG type I" EXACT [] synonym: "Type 1 transferrin isoform profile" EXACT [] xref: UMLS:C1837899 is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin [Term] id: HP:0003643 name: Sulfite oxidase deficiency def: "Abnormally reduced sulfite oxidase level." [https://orcid.org/0000-0002-0736-9199] comment: Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids. xref: SNOMEDCT_US:367368009 xref: UMLS:C0268624 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003645 name: Prolonged partial thromboplastin time def: "Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal partial thromboplastin time" EXACT [] synonym: "Delayed thromboplastin generation" EXACT [] synonym: "Partial thromboplastin time prolonged" EXACT [] synonym: "Prolonged activated partial thromboplastin time" EXACT [] synonym: "Prolonged PTT" EXACT abbreviation [] xref: SNOMEDCT_US:409675001 xref: UMLS:C0240671 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003646 name: Bicarbonaturia def: "Abnormally increased concentration of hydrogencarbonate in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urine bicarbonate concentration" EXACT abbreviation [] synonym: "Increased urine HCO3 concentration" EXACT [] xref: UMLS:C1839865 is_a: HP:0011279 ! Abnormality of urine bicarbonate level [Term] id: HP:0003647 name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect def: "A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase." [PMID:2989828] xref: UMLS:C4025586 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003648 name: Lacticaciduria def: "An increased concentration of lactic acid in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine lactic acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased urine lactate" EXACT [] xref: UMLS:C4025585 is_a: HP:0012072 ! Aciduria [Term] id: HP:0003649 name: Abnormal glycosidase enzyme activity def: "Abnormality of glycosidase enzyme activity. Glycoside hydrolases (GHs), including glycosidases and transglycosidases. These enzymes constitute 113 protein families that are responsible for the hydrolysis and/or transglycosylation of glycosidic bonds." [https://orcid.org/0000-0002-0736-9199] comment: Glycosides are molecules with a sugar moiety bound to some other moiety. synonym: "Abnormality of glycoside metabolism" EXACT [] xref: UMLS:C4025584 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T08:32:00Z [Term] id: HP:0003651 name: Foam cells alt_id: HP:0003650 def: "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance." [https://orcid.org/0000-0002-0736-9199] comment: Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy. synonym: "Foamy histiocytes" EXACT [] synonym: "Foamy macrophages" EXACT [] synonym: "Lipid-laden histiocytes" EXACT [] synonym: "Presence of foam cells" EXACT [] xref: SNOMEDCT_US:16980002 xref: UMLS:C0016390 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0003652 name: Recurrent myoglobinuria alt_id: HP:0008313 def: "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Myoglobinuria, episodic" EXACT [] synonym: "Myoglobinuria, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1838877 is_a: HP:0002913 ! Myoglobinuria [Term] id: HP:0003653 name: Cellular metachromasia def: "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans." [https://orcid.org/0000-0002-0736-9199, PMID:4195824] comment: This investigation is no longer in common use. xref: UMLS:C4025583 is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism [Term] id: HP:0003654 name: Reduced dihydropyrimidine dehydrogenase level def: "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level." [HPO_CONTRIBUTOR:gcarletti] comment: Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides. synonym: "Dihydropyrimidine dehydrogenase deficiency" RELATED [] xref: SNOMEDCT_US:77365006 xref: UMLS:C1959620 xref: UMLS:C4025582 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003655 name: Reduced level of N-acetylglucosaminyltransferase II def: "An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity." [HPO_CONTRIBUTOR:gcarletti] synonym: "Deficient N-acetylglucosaminyltransferase II" EXACT [] xref: UMLS:C4021725 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003656 name: Decreased beta-glucocerebrosidase level def: "Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose." [] comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides. synonym: "Decreased lysosomal acid glucosylceramidase activity" EXACT [] xref: UMLS:C1842710 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0003657 name: Vascular granular osmiophilic material deposition alt_id: HP:0034379 def: "Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin." [PMID:17183453, PMID:31667734] comment: In CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), GOM deposits can be observed located in the neighborhood of the smooth muscle cells, often within an infolding of the cell membrane. synonym: "Granular osmiophilic deposits (GROD) in cells" EXACT [] xref: UMLS:C1859833 is_a: HP:0025015 ! Abnormal vascular morphology [Term] id: HP:0003658 name: Hypomethioninemia def: "A decreased concentration of methionine in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Normal methionine blood levels are around 30 micromole per liter. synonym: "Decreased plasma methionine" EXACT layperson [] synonym: "Decreased serum methionine" EXACT layperson [] xref: UMLS:C1848555 is_a: HP:0010901 ! Abnormal circulating methionine concentration [Term] id: HP:0003665 name: Amyotrophy of the musculature of the pelvis def: "Muscular atrophy affecting the muscles of the pelvis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025581 is_a: HP:0008988 ! Pelvic girdle muscle atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:57:00Z [Term] id: HP:0003674 name: Onset alt_id: HP:0003588 alt_id: HP:0003590 alt_id: HP:0003597 alt_id: HP:0003602 alt_id: HP:0003603 alt_id: HP:0003618 alt_id: HP:0003626 alt_id: HP:0003628 alt_id: HP:0003630 alt_id: HP:0003663 alt_id: HP:0003664 alt_id: HP:0003668 alt_id: HP:0011007 def: "The age group in which disease manifestations appear." [https://orcid.org/0000-0002-0736-9199] comment: Adolescent is defined by WHO as a person between 10-19 years of age. synonym: "Age of onset" EXACT [] synonym: "Age symptoms begin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C0206132 is_a: HP:0031797 ! Clinical course [Term] id: HP:0003676 name: Progressive def: "Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age." [] synonym: "Progressive disorder" RELATED [] synonym: "Worsens with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:252157006 xref: SNOMEDCT_US:255314001 xref: UMLS:C0205329 xref: UMLS:C1864985 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003677 name: Slowly progressive alt_id: HP:0003675 alt_id: HP:0003681 def: "Applies to a disease manifestation that only slowly increases in scope or severity over the course of time." [] synonym: "Signs and symptoms worsen slowly with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Slow disease progression" EXACT [] synonym: "Slow progression" EXACT [] synonym: "Slowly progressive disorder" EXACT [] xref: UMLS:C1854494 is_a: HP:0003676 ! Progressive [Term] id: HP:0003678 name: Rapidly progressive def: "Applies to a disease manifestation that quickly increases in scope or severity over the course of time." [] synonym: "Rapid progression" EXACT [] synonym: "Rapidly progressive disorder" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Worsening quickly" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1838681 xref: UMLS:C1850776 is_a: HP:0003676 ! Progressive [Term] id: HP:0003679 name: Pace of progression xref: UMLS:C4025580 is_a: HP:0031797 ! Clinical course [Term] id: HP:0003680 name: Nonprogressive alt_id: HP:0003685 def: "Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age." [] synonym: "Does not worsen" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200] synonym: "Non-progressive" EXACT [] synonym: "Nonprogressive course" EXACT [] synonym: "Nonprogressive disorder" EXACT [] synonym: "Stationary" EXACT [] xref: SNOMEDCT_US:702322003 xref: UMLS:C3839460 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003682 name: Variable progression rate def: "Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another." [] xref: UMLS:C1970284 is_a: HP:0003676 ! Progressive [Term] id: HP:0003683 name: obsolete Large beaked nose is_obsolete: true replaced_by: HP:0000444 [Term] id: HP:0003687 name: Centrally nucleated skeletal muscle fibers def: "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells)." [https://orcid.org/0000-0002-0736-9199, PMID:20181480] comment: Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma). synonym: "Central nuclei" EXACT [] synonym: "Centralised nuclei" EXACT uk_spelling [] synonym: "Centralised sarcomeric nuclei" EXACT uk_spelling [] synonym: "Centralized nuclei" EXACT [] synonym: "Centralized sarcomeric nuclei" EXACT [] synonym: "Centrally nucleated skeletal muscle fibres" EXACT uk_spelling [] xref: UMLS:C1842170 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003688 name: Cytochrome C oxidase-negative muscle fibers alt_id: HP:0003734 alt_id: HP:0009006 def: "An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue." [https://orcid.org/0000-0002-0736-9199] comment: This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane. synonym: "Cytochrome c oxidase deficiency in skeletal muscle" EXACT [] synonym: "Cytochrome C oxidase-negative muscle fibres" EXACT uk_spelling [] synonym: "Decreased activity of cytochrome C oxidase in muscle tissue" EXACT [] synonym: "Decreased skeletal muscle cytochrome c oxidase activity" EXACT [] xref: UMLS:C4021724 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003689 name: Multiple mitochondrial DNA deletions alt_id: HP:0003801 def: "The presence of multiple deletions of mitochondrial DNA (mtDNA)." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be demonstrated by muscle biopsy. synonym: "Multiple mtDNA deletions" EXACT [] xref: UMLS:C3277376 is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue [Term] id: HP:0003690 name: Limb muscle weakness alt_id: HP:0002534 def: "Reduced strength and weakness of the muscles of the arms and legs." [https://orcid.org/0009-0006-4530-3154] synonym: "Limb muscle weakness" EXACT layperson [] synonym: "Limb weakness" EXACT layperson [] xref: SNOMEDCT_US:713514005 xref: UMLS:C0587246 is_a: HP:0001324 ! Muscle weakness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003691 name: Scapular winging alt_id: HP:0000783 def: "Abnormal protrusion of the scapula away from the surface of the back." [https://orcid.org/0000-0002-0736-9199] comment: The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging. subset: hposlim_core synonym: "Scapula alata" EXACT [] synonym: "Scapular weakness" RELATED [] synonym: "Winged scapulae" EXACT [] synonym: "Winged scapulas" EXACT [] synonym: "Winged shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10067628 "Winged scapula" xref: SNOMEDCT_US:17211005 xref: UMLS:C0240953 xref: UMLS:C4072849 is_a: HP:0000782 ! Abnormal scapula morphology is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0003693 name: Distal amyotrophy alt_id: HP:0002484 alt_id: HP:0002934 alt_id: HP:0003486 alt_id: HP:0003699 alt_id: HP:0006786 alt_id: HP:0006864 alt_id: HP:0008937 alt_id: HP:0008958 alt_id: HP:0009015 alt_id: HP:0009040 alt_id: HP:0009065 def: "Muscular atrophy affecting muscles in the distal portions of the extremities." [https://orcid.org/0000-0002-0736-9199] comment: Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution). synonym: "Amyotrophy of distal limb muscles" EXACT [] synonym: "Distal amyotrophy, especially of the hands and feet" EXACT [] synonym: "Distal limb muscle atrophy" EXACT [] synonym: "Distal muscle atrophy" EXACT [] synonym: "Distal muscle atrophy, upper and lower limbs" EXACT [] synonym: "Distal muscle degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Distal muscle wasting" EXACT layperson [] synonym: "Distal muscular atrophy" EXACT [] synonym: "Muscle atrophy, distal" EXACT [] xref: UMLS:C1848736 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003694 name: Late-onset proximal muscle weakness def: "Lack of strength of the proximal musculature occurring late in the clinical course." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025578 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003696 name: Absent epiphysis of the distal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the outermost bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent end part of the outermost bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent end part of the outermost bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025577 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T01:37:43Z [Term] id: HP:0003697 name: Scapuloperoneal amyotrophy alt_id: HP:0006920 alt_id: HP:0008957 def: "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Scapuloperoneal atrophy" EXACT [] xref: UMLS:C1842162 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003698 name: Difficulty standing synonym: "Difficulty in standing" EXACT layperson [] synonym: "Standing instability" EXACT [] xref: SNOMEDCT_US:249902000 xref: UMLS:C0241237 is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0003700 name: Generalized amyotrophy alt_id: HP:0008977 alt_id: HP:0008987 alt_id: HP:0008996 alt_id: HP:0009043 alt_id: HP:0009052 alt_id: HP:0009068 alt_id: HP:0009074 def: "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Diffuse amyotrophy" EXACT [] synonym: "Diffuse muscle atrophy" EXACT [] synonym: "Diffuse muscle wasting" EXACT [] synonym: "Diffuse skeletal muscle wasting" EXACT layperson [] synonym: "Generalised amyotrophy" EXACT uk_spelling [] synonym: "Generalised muscle atrophy" EXACT uk_spelling [] synonym: "Generalised muscle degeneration" EXACT uk_spelling [] synonym: "Generalized muscle atrophy" EXACT [] synonym: "Generalized muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscle atrophy, diffuse" EXACT [] synonym: "Muscle atrophy, generalised" EXACT uk_spelling [] synonym: "Muscle atrophy, generalized" EXACT layperson [] synonym: "Muscular atrophy, generalised" EXACT uk_spelling [] synonym: "Muscular atrophy, generalized" EXACT [] xref: UMLS:C1389113 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003701 name: Proximal muscle weakness alt_id: HP:0003432 alt_id: HP:0003475 alt_id: HP:0007195 alt_id: HP:0008950 alt_id: HP:0008961 alt_id: HP:0008975 alt_id: HP:0009033 alt_id: HP:0009075 def: "A lack of strength of the proximal muscles." [https://orcid.org/0000-0002-0736-9199] comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. synonym: "Muscle weakness, proximal" EXACT [] synonym: "Proximal limb muscle weakness" EXACT [] synonym: "Proximal limb weakness" EXACT [] synonym: "Proximal neurogenic muscle weakness" RELATED layperson [] synonym: "Weakness in muscles of upper arms and upper legs" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:249939004 xref: UMLS:C0221629 xref: UMLS:C1838869 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003704 name: Scapuloperoneal weakness synonym: "Neurogenic scapuloperoneal syndrome" EXACT [] xref: UMLS:C1842161 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003707 name: Calf muscle pseudohypertrophy def: "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat." [https://orcid.org/0000-0002-0736-9199] comment: Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions. synonym: "Pseudohypertrophy of the calves" EXACT [] xref: UMLS:C1839666 is_a: HP:0001430 ! Abnormal calf musculature morphology [Term] id: HP:0003710 name: Exercise-induced muscle cramps alt_id: HP:0008983 alt_id: HP:0009000 def: "Sudden and involuntary contractions of one or more muscles brought on by physical exertion." [https://orcid.org/0000-0002-0736-9199] synonym: "Exercise-induced muscle cramping" EXACT layperson [] synonym: "Exercise-induced muscle cramps" EXACT layperson [] synonym: "Muscle cramps following exercise" EXACT layperson [] synonym: "Muscle cramps on exercise" EXACT layperson [] synonym: "Muscle cramps on exertion" EXACT layperson [] synonym: "Muscle cramps with exertion" EXACT layperson [] xref: UMLS:C1855578 is_a: HP:0003394 ! Muscle spasm [Term] id: HP:0003712 name: Skeletal muscle hypertrophy alt_id: HP:0009042 def: "Abnormal increase in muscle size and mass not due to training." [https://orcid.org/0000-0002-0736-9199] comment: Increased muscle bulk based on clinical observation. Myofiber hyperplasia and hypertrophy may contribute but this is not easily tested clinically. synonym: "Hypertrophic muscles" EXACT [] synonym: "Increased skeletal muscle cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscle hypertrophy" EXACT [] synonym: "Muscular hypertrophy" EXACT [] xref: UMLS:C2265792 is_a: HP:0030236 ! Abnormality of muscle size [Term] id: HP:0003713 name: Muscle fiber necrosis alt_id: HP:0003726 def: "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle fibre necrosis" EXACT uk_spelling [] xref: UMLS:C1850848 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003715 name: Myofibrillar myopathy def: "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins." [https://orcid.org/0000-0002-0736-9199] comment: This feature is demonstrated by muscle biopsy. synonym: "Myofibrillar changes" EXACT [] xref: SNOMEDCT_US:699269005 xref: UMLS:C2678065 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003716 name: Generalized muscular appearance from birth synonym: "Generalised muscular appearance from birth" EXACT uk_spelling [] xref: UMLS:C1837799 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003717 name: Minimal subcutaneous fat synonym: "Minimal fat below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859442 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0003719 name: Muscle mounding def: "Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds." [PMID:20300641] comment: Transient swelling of muscle induced by percussion (e.g., tapping on muscle with a reflex hammer). xref: UMLS:C1853702 is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003720 name: Generalized muscle hypertrophy def: "Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised increase in muscle cell size" EXACT uk_spelling [] synonym: "Generalised muscle hypertrophy" EXACT uk_spelling [] synonym: "Generalized increase in muscle cell size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3805639 is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0003722 name: Neck flexor weakness alt_id: HP:0000469 def: "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [https://orcid.org/0000-0002-0736-9199] synonym: "Neck flexion weakness" EXACT layperson [] synonym: "Neck flexor muscle weakness" EXACT [] xref: UMLS:C1843637 is_a: HP:0000467 ! Neck muscle weakness [Term] id: HP:0003724 name: Shoulder girdle muscle atrophy def: "Amyotrophy affecting the muscles of the shoulder girdle." [https://orcid.org/0000-0002-0736-9199] synonym: "Shoulder girdle atrophy" EXACT [] synonym: "Shoulder girdle muscle wasting" EXACT layperson [] synonym: "Shoulder-girdle muscle atrophy" EXACT layperson [] xref: UMLS:C1847766 is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0003725 name: Firm muscles def: "A state of increased firmness (i.e., a reduced tendency to yield to pressure) of skeletal muscle tissue. This finding is ascertained by palpation and is to be distinguished from increased muscle tone (abnormal elevation in the resting tension of a muscle, leading to stiffness and resistance to movement)." [PMID:15389706, PMID:19213027] comment: This finding has been described in Arthrogryposis, distal, type 5 and Glycogen storage disease II. xref: UMLS:C1850656 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003729 name: Enteroviral dermatomyositis syndrome xref: UMLS:C3806660 is_a: HP:0002743 ! Recurrent enteroviral infections [Term] id: HP:0003730 name: EMG: myotonic runs def: "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)." [https://orcid.org/0000-0002-0736-9199] comment: This is a characteristic abnormality seen in the myotonias and periodic paralyzes. synonym: "EMG: spontaneous, repetitive electrical activity" RELATED [] xref: UMLS:C4020837 xref: UMLS:C4025576 is_a: HP:0002486 ! Myotonia is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003731 name: Quadriceps muscle weakness def: "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)." [https://orcid.org/0000-0002-0736-9199] synonym: "Quadriceps weakness" EXACT layperson [] xref: SNOMEDCT_US:300948004 xref: UMLS:C0577655 is_a: HP:0008994 ! Proximal muscle weakness in lower limbs [Term] id: HP:0003733 name: Thigh hypertrophy def: "Muscle hypertrophy affecting the thighs." [https://orcid.org/0000-0002-0736-9199] comment: Proximal lower limb hypertrophy synonym: "Increased thigh size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846674 is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0003736 name: Autophagic vacuoles def: "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue." [https://orcid.org/0000-0002-0736-9199, PMID:17027858] xref: UMLS:C0544966 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003737 name: Mitochondrial myopathy alt_id: HP:0008960 def: "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term that should not be used for future annotations. xref: SNOMEDCT_US:16851005 xref: UMLS:C0162670 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003738 name: Exercise-induced myalgia def: "The occurrence of an unusually high amount of muscle pain following exercise." [https://orcid.org/0000-0002-0736-9199] synonym: "Exercise-induced muscle pain" EXACT layperson [] synonym: "Muscle pain on exercise" EXACT layperson [] synonym: "Muscle pain with exercise" EXACT layperson [] synonym: "Muscle pain, exercise-induced" EXACT layperson [] xref: UMLS:C1850830 is_a: HP:0003326 ! Myalgia [Term] id: HP:0003739 name: Myoclonic spasms alt_id: HP:0006963 xref: UMLS:C3806442 is_a: HP:0001336 ! Myoclonus [Term] id: HP:0003740 name: Myotonia with warm-up phenomenon def: "Myotonia that occurs after a period of rest and decreases with continuing exercise." [https://orcid.org/0000-0002-0736-9199, PMID:7678441] xref: UMLS:C4025575 is_a: HP:0002486 ! Myotonia [Term] id: HP:0003741 name: obsolete Congenital muscular dystrophy is_obsolete: true replaced_by: HP:0003560 [Term] id: HP:0003743 name: Genetic anticipation def: "A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations." [https://orcid.org/0000-0002-0736-9199] comment: This mode of inheritance is characteristic of trinucleotide and some other repeat disorders. synonym: "Autosomal dominant with genetic anticipation" EXACT [] xref: UMLS:C0600498 is_a: HP:0034335 ! Inheritance qualifier [Term] id: HP:0003744 name: Genetic anticipation with paternal anticipation bias def: "A type of genetic anticipation observed predominantly upon transmission from affected males." [https://orcid.org/0000-0002-0736-9199] synonym: "Paternal anticipation bias" RELATED [] xref: UMLS:C1834002 xref: UMLS:C4025574 is_a: HP:0003743 ! Genetic anticipation [Term] id: HP:0003745 name: Sporadic alt_id: HP:0001420 alt_id: HP:0003747 alt_id: HP:0003769 def: "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Isolated cases" EXACT [] synonym: "No previous family history" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1853237 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0003749 name: Pelvic girdle muscle weakness alt_id: HP:0003692 alt_id: HP:0008999 alt_id: HP:0009036 def: "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Hip girdle muscle weakness" EXACT [] synonym: "Hip girdle weakness" EXACT [] synonym: "Hip-girdle muscle weakness" EXACT [] synonym: "Pelvic girdle weakness" EXACT [] xref: SNOMEDCT_US:249941003 xref: UMLS:C0427064 is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003750 name: Increased muscle fatiguability def: "An abnormal, increased fatiguability of the musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle fatigue" RELATED [] xref: SNOMEDCT_US:80449002 xref: UMLS:C0242979 xref: UMLS:C4025573 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003752 name: Episodic flaccid weakness def: "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025572 is_a: HP:0010547 ! Muscle flaccidity [Term] id: HP:0003755 name: Type 1 fibers relatively smaller than type 2 fibers def: "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers." [https://orcid.org/0000-0002-0736-9199] comment: This feature can only be observed on muscle biopsy. synonym: "Type 1 fibres relatively smaller than type 2 fibres" EXACT uk_spelling [] xref: UMLS:C4025571 is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size [Term] id: HP:0003756 name: Skeletal myopathy xref: SNOMEDCT_US:75047002 xref: UMLS:C1533847 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003758 name: Reduced subcutaneous adipose tissue alt_id: HP:0001002 alt_id: HP:0007409 def: "A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness." [] synonym: "Decreased subcutaneous adipose tissue" EXACT [] synonym: "Decreased subcutaneous fat" EXACT [] synonym: "Reduced fat tissue below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Reduced subcutaneous fat" EXACT [] synonym: "Scanty adipose tissue" EXACT [] xref: SNOMEDCT_US:248316006 xref: UMLS:C0424631 xref: UMLS:C1857657 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0040063 ! Decreased adipose tissue [Term] id: HP:0003759 name: Hypoplasia of lymphatic vessels def: "Congenital underdevelopment of lymph vessels." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be demonstrated by lymphography. synonym: "Underdeveloped lymphatic vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025570 is_a: HP:0100766 ! Abnormal lymphatic vessel morphology [Term] id: HP:0003760 name: Percussion-induced rapid rolling muscle contractions def: "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4280804 is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003761 name: Calcinosis def: "Formation of calcium deposits in any soft tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Calcium buildup in soft tissues of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:6595006 xref: UMLS:C0006663 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0003762 name: Uterus didelphys def: "A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis." [https://orcid.org/0000-0002-0736-9199] synonym: "Didelphic uteri" EXACT [] synonym: "Didelphic uterus" EXACT [] synonym: "Didelphyc uterus" EXACT [] synonym: "Double uterus" RELATED layperson [] synonym: "Doubling of uterus" EXACT [] synonym: "Duplex uterus" EXACT [] synonym: "Duplicated uterus" EXACT [] synonym: "Duplication of uterus" EXACT [] synonym: "Uterine didelphis" EXACT [] synonym: "Uterine didelphys" EXACT [] synonym: "Uterus didelphis" EXACT [] synonym: "Uterus didelphus" EXACT [] synonym: "Uterus duplex" EXACT [] xref: SNOMEDCT_US:15545001 xref: SNOMEDCT_US:22504001 xref: UMLS:C0152240 xref: UMLS:C0266393 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0003763 name: Bruxism def: "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake." [PMID:29926505] synonym: "Teeth grinding" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:191983006 xref: SNOMEDCT_US:90207007 xref: UMLS:C0006325 is_a: HP:5200017 ! Stereotypic movements of face and head property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0003764 name: Nevus def: "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin." [https://orcid.org/0000-0002-0736-9199] comment: The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. synonym: "Mole" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Naevi" RELATED [] synonym: "Naevus" EXACT [] synonym: "Nevi" RELATED [] xref: SNOMEDCT_US:21119008 xref: SNOMEDCT_US:400096001 xref: SNOMEDCT_US:51697005 xref: UMLS:C0027960 xref: UMLS:C0027962 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0003765 name: Psoriasiform dermatitis def: "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)." [https://orcid.org/0000-0002-0736-9199] comment: The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations). synonym: "Psoriasis" EXACT [] xref: SNOMEDCT_US:9014002 xref: UMLS:C0033860 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0003768 name: Periodic paralysis def: "Episodes of muscle weakness." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic paralysis" EXACT [] xref: SNOMEDCT_US:198030008 xref: UMLS:C1279412 is_a: HP:0003470 ! Paralysis [Term] id: HP:0003771 name: Pulp calcification def: "Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] synonym: "False denticles" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "False pulp stones" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Pulp calcifications" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pulp denticles" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pulp stones" EXACT layperson [] synonym: "Pulpoliths" EXACT [] synonym: "True denticles" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "True pulp stones" NARROW [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:57602001 xref: UMLS:C1527284 xref: UMLS:C4280259 xref: UMLS:C4280546 is_a: HP:0006479 ! Abnormal dental pulp morphology [Term] id: HP:0003774 name: Stage 5 chronic kidney disease alt_id: HP:0000101 alt_id: HP:0004720 alt_id: HP:0004725 alt_id: HP:0004733 alt_id: HP:0004738 alt_id: HP:0005570 def: "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine." [https://orcid.org/0000-0002-0736-9199] comment: Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. synonym: "Chronic renal failure" EXACT [] synonym: "End stage renal disease" EXACT [] synonym: "End stage renal failure" EXACT [] synonym: "End-stage renal disease" EXACT [] synonym: "End-stage renal failure" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Renal failure, endstage" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Stage 5 chronic kidney disease" EXACT layperson [] xref: SNOMEDCT_US:433146000 xref: UMLS:C2316810 is_a: HP:0012622 ! Chronic kidney disease [Term] id: HP:0003777 name: Pili torti def: "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Flattened and twisted hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:17170005 xref: UMLS:C0263491 is_a: HP:0003328 ! Abnormal hairshaft morphology [Term] id: HP:0003778 name: Short mandibular rami alt_id: HP:0005447 synonym: "Decreased height of mandibular ramus" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of mandibular ramus" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Short body and ramus of mandible" EXACT [] synonym: "Short mandibular ramus" EXACT [] synonym: "Underdeveloped mandibular rami" EXACT [] xref: UMLS:C1841648 xref: UMLS:C4280545 is_a: HP:0000347 ! Micrognathia is_a: HP:3000003 ! Abnormal mandibular ramus morphology [Term] id: HP:0003779 name: Antegonial notching of mandible synonym: "Deep antegonial notch of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large antegonial notch of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844509 is_a: HP:0010753 ! Midline defect of mandible [Term] id: HP:0003781 name: Excessive salivation def: "Excessive production of saliva." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive production of saliva" EXACT [] synonym: "Excessive salivation" EXACT layperson [] synonym: "Hypersalivation" EXACT [] synonym: "Mouth watering" EXACT layperson [] synonym: "Oversalivation" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ptyalism" EXACT [] synonym: "Watery mouth" EXACT layperson [] xref: SNOMEDCT_US:275295002 xref: SNOMEDCT_US:53827007 xref: SNOMEDCT_US:62718007 xref: UMLS:C0013132 xref: UMLS:C0037036 is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0003782 name: Eunuchoid habitus def: "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025569 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0003783 name: obsolete Externally rotated/abducted legs is_obsolete: true replaced_by: HP:0008796 [Term] id: HP:0003784 name: Type 1 collagen overmodification xref: UMLS:C1970463 is_a: HP:0011862 ! Abnormal bone collagen fibril morphology [Term] id: HP:0003785 name: Decreased CSF homovanillic acid concentration def: "Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine." [HPO_CONTRIBUTOR:KI_phemming, PMID:12615172] xref: UMLS:C4280803 is_a: HP:0034200 ! Abnormal CSF homovanillic acid concentration [Term] id: HP:0003787 name: Type 1 and type 2 muscle fiber minicore regions def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers." [https://orcid.org/0000-0002-0736-9199] synonym: "Type 1 and type 2 muscle fibre minicore regions" EXACT uk_spelling [] xref: UMLS:C4025568 is_a: HP:0003789 ! Minicore myopathy [Term] id: HP:0003789 name: Minicore myopathy alt_id: HP:0003804 def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1850674 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003791 name: Deposits immunoreactive to beta-amyloid protein xref: UMLS:C1853934 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003795 name: Short middle phalanx of toe def: "Developmental hypoplasia (shortening) of middle phalanx of toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Short middle bones (feet)" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short middle phalanges of toes" EXACT [] xref: UMLS:C4021723 is_a: HP:0001831 ! Short toe is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes [Term] id: HP:0003796 name: Irregular iliac crest def: "Irregularity of the iliac crest, which is the superior border of the wing of the ilium." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855180 is_a: HP:0002867 ! Abnormal ilium morphology [Term] id: HP:0003797 name: Limb-girdle muscle atrophy def: "Muscular atrophy affecting the muscles of the limb girdle." [https://orcid.org/0000-0002-0736-9199] synonym: "Limb-girdle myopathy" BROAD [] synonym: "Wasting of limb-girdle muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1404521 xref: UMLS:C1842552 is_a: HP:0003202 ! Skeletal muscle atrophy is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003798 name: Nemaline bodies def: "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [https://orcid.org/0000-0002-0736-9199, PMID:11333380] comment: This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23). synonym: "Nemaline rods" EXACT [] xref: UMLS:C3808039 is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies [Term] id: HP:0003799 name: Marked delay in bone age alt_id: HP:0005742 alt_id: HP:0005843 synonym: "Marked delay in bone age" EXACT layperson [] synonym: "Marked retardation in skeletal maturation" EXACT [] synonym: "Markedly retarded bone age" EXACT layperson [] xref: UMLS:C1868549 is_a: HP:0002750 ! Delayed skeletal maturation [Term] id: HP:0003800 name: Muscle abnormality related to mitochondrial dysfunction xref: UMLS:C4025566 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003803 name: Type 1 muscle fiber predominance alt_id: HP:0003721 alt_id: HP:0003807 def: "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [https://orcid.org/0000-0002-0736-9199] comment: This finding is demonstrated by muscle biopsy. synonym: "Type 1 muscle fibre predominance" EXACT uk_spelling [] synonym: "Type I muscle fiber predominance" EXACT [] synonym: "Type I muscle fibre predominance" EXACT uk_spelling [] xref: UMLS:C1854387 is_a: HP:0033684 ! Abnormal muscle fiber-type distribution [Term] id: HP:0003805 name: Rimmed vacuoles alt_id: HP:0009029 def: "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions." [https://orcid.org/0000-0002-0736-9199] comment: Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. synonym: "Rimmed vacuoles on biopsy" EXACT [] xref: UMLS:C1853932 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003808 name: Abnormal muscle tone synonym: "Abnormal muscle tone" EXACT layperson [] xref: UMLS:C0852413 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003809 name: Reduced intrathoracic adipose tissue def: "An abnormally reduced amount of adipose tissue in the thoracic cavity." [] xref: UMLS:C1837797 is_a: HP:0040063 ! Decreased adipose tissue [Term] id: HP:0003810 name: Late-onset distal muscle weakness alt_id: HP:0003728 xref: UMLS:C4025565 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003811 name: Neonatal death alt_id: HP:0003820 alt_id: HP:0003824 def: "Death within the first 28 days of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Neonatal lethal" EXACT layperson [] xref: SNOMEDCT_US:276506001 xref: UMLS:C0410916 is_a: HP:0011420 ! Age of death [Term] id: HP:0003812 name: Phenotypic variability alt_id: HP:0003813 alt_id: HP:0003815 alt_id: HP:0003821 alt_id: HP:0003822 def: "A variability of phenotypic features." [https://orcid.org/0000-0002-0736-9199] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "Clinical heterogeneity" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Highly variable clinical phenotype" EXACT [] synonym: "Highly variable phenotype" EXACT [] synonym: "Highly variable phenotype and severity" EXACT [] synonym: "Highly variable phenotype, even within families" EXACT [] synonym: "Variable phenotype" EXACT [] synonym: "Variable phenotypic severity" EXACT [] xref: UMLS:C1837514 xref: UMLS:C1839039 xref: UMLS:C1850667 xref: UMLS:C1866210 is_a: HP:0012823 ! Clinical modifier [Term] id: HP:0003819 name: Death in childhood alt_id: HP:0001432 alt_id: HP:0004149 def: "Death in during childhood, defined here as between the ages of 2 and 10 years." [https://orcid.org/0000-0002-0736-9199] comment: previous def was: 'has part' some (premature and ('inheres in' some death) and ('has modifier' some abnormal)) synonym: "Death in childhood" EXACT layperson [] xref: UMLS:C1843392 is_a: HP:0011420 ! Age of death [Term] id: HP:0003826 name: Stillbirth alt_id: HP:0001624 alt_id: HP:0001625 def: "Death of the fetus in utero after at least 22 weeks of gestation." [https://orcid.org/0000-0002-0736-9199] comment: The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges. synonym: "Fetal death" RELATED layperson [] synonym: "Fetal demise" RELATED [] synonym: "Foetal death" RELATED uk_spelling [] synonym: "Foetal demise" RELATED uk_spelling [] synonym: "Late fetal death" EXACT [] synonym: "Late foetal death" EXACT uk_spelling [] synonym: "Stillbirth" EXACT layperson [] synonym: "Stillborn" EXACT layperson [] xref: SNOMEDCT_US:237364002 xref: SNOMEDCT_US:276507005 xref: UMLS:C0015927 xref: UMLS:C0595939 is_a: HP:0034241 ! Prenatal death [Term] id: HP:0003828 name: Variable expressivity alt_id: HP:0003814 alt_id: HP:0003825 def: "A variable severity of phenotypic features." [https://orcid.org/0000-0002-0736-9199] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "Highly variable severity" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Variable severity" EXACT [] xref: UMLS:C1861403 xref: UMLS:C1866862 is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003829 name: Typified by incomplete penetrance alt_id: HP:0003830 def: "Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years." [https://orcid.org/0000-0002-0736-9199] comment: For example, Van der Woude syndrome due to IRF6 causes cleft lip and/or palate with penetrance estimated at 80%, and C9orf72 causes frontotemporal dementia and/or amyotrophic lateral sclerosis with approximately 50% penetrance. synonym: "Incomplete penetrance" EXACT [] synonym: "Reduced penetrance" EXACT [] xref: UMLS:C1836598 is_a: HP:0034335 ! Inheritance qualifier [Term] id: HP:0003831 name: Typified by age-related disease onset def: "Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject." [https://orcid.org/0000-0002-0736-9199] synonym: "Age dependent penetrance" EXACT [] synonym: "Age-dependent penetrance" EXACT [] synonym: "Typified by age-related penetrance" EXACT [] xref: UMLS:C1835978 is_a: HP:0034335 ! Inheritance qualifier [Term] id: HP:0003832 name: Abnormality of the tibial plateaux xref: UMLS:C4025564 is_a: HP:0002992 ! Abnormal tibia morphology [Term] id: HP:0003833 name: Laterally deficient tibial plateaux xref: UMLS:C4025563 is_a: HP:0003832 ! Abnormality of the tibial plateaux [Term] id: HP:0003834 name: Shoulder dislocation def: "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [https://orcid.org/0000-0002-0736-9199] synonym: "Shoulder dislocation" EXACT layperson [] xref: SNOMEDCT_US:125615005 xref: SNOMEDCT_US:417076003 xref: UMLS:C0037005 is_a: HP:0003043 ! Abnormal shoulder morphology is_a: HP:0030310 ! Upper extremity joint dislocation [Term] id: HP:0003835 name: Shoulder subluxation def: "A partial dislocation of the shoulder joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial shoulder dislocation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:263051004 xref: UMLS:C0434744 is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0003836 name: Stippled calcification of the shoulder xref: UMLS:C4025562 is_a: HP:0003043 ! Abnormal shoulder morphology [Term] id: HP:0003837 name: Soft-tissue ossification around the shoulders def: "Formation of calcified tissue in the soft tissues surrounding the shoulder." [https://orcid.org/0000-0002-0736-9199] synonym: "Calcification of the soft-tissue around the shoulders" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025561 is_a: HP:0011986 ! Ectopic ossification [Term] id: HP:0003839 name: Abnormal upper limb epiphysis morphology alt_id: HP:0003845 synonym: "Abnormal shape of end part of upper limb long bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the upper limbs" EXACT [] synonym: "Abnormality of upper limb epiphysis morphology" EXACT [] synonym: "Epihyseal plate abnormality of the upper limbs" EXACT [] xref: UMLS:C4021722 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006505 ! Abnormal limb epiphysis morphology [Term] id: HP:0003840 name: Delayed upper limb epiphyseal ossification def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed maturation of the end part of the upper limb bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025560 xref: UMLS:C4280544 is_a: HP:0002663 ! Delayed epiphyseal ossification is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology [Term] id: HP:0003841 name: Fragmented epiphyses of the upper limbs synonym: "Fragmented end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025559 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0003842 name: Irregular epiphyses of the upper limbs synonym: "Irregular end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025558 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0003843 name: Round epiphyses of the upper limbs synonym: "Round end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025557 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology [Term] id: HP:0003844 name: Small epiphyses of the upper limbs synonym: "Small end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025556 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology is_a: HP:0010585 ! Small epiphyses [Term] id: HP:0003846 name: Wide epiphyseal plates of the upper limbs synonym: "Broad epiphyseal plates of the upper limbs" EXACT [] synonym: "Broad growth plates of upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4020913 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology [Term] id: HP:0003848 name: Cupped metaphyses of the upper limbs synonym: "Cupped wide portion of the upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025555 is_a: HP:0003021 ! Metaphyseal cupping is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology [Term] id: HP:0003849 name: Flared upper limb metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm." [https://orcid.org/0000-0002-0736-9199] synonym: "Flared metaphyses of the upper limbs" EXACT [] synonym: "Flared wide portion of the upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021721 is_a: HP:0003015 ! Flared metaphysis is_a: HP:0003856 ! Upper limb metaphyseal widening [Term] id: HP:0003850 name: Upper-limb metaphyseal irregularity synonym: "Irregular metaphyses of the upper limbs" EXACT [] synonym: "Irregular wide portion of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021720 is_a: HP:0003025 ! Metaphyseal irregularity is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology [Term] id: HP:0003851 name: Lytic defects in metaphyses of the upper limbs xref: UMLS:C4025554 is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology [Term] id: HP:0003852 name: Normal density transverse bands in metaphyses of the upper limbs xref: UMLS:C4025553 is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology [Term] id: HP:0003853 name: Sclerosis with transverse striations in metaphyses of the upper limbs xref: UMLS:C4025552 is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs [Term] id: HP:0003854 name: Sclerosis of metaphyses of the upper limbs synonym: "Increased bone density in wide portion of the upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025551 is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology [Term] id: HP:0003855 name: Spurred metaphyses of the upper limbs synonym: "Spurred wide portion of upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025550 is_a: HP:0005054 ! Metaphyseal spurs is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology [Term] id: HP:0003856 name: Upper limb metaphyseal widening def: "Increased width (breadth) of metaphyses of the arms." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad wide portion of upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide/broad metaphyses of the upper limbs" EXACT [] xref: UMLS:C4021719 is_a: HP:0003016 ! Metaphyseal widening is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology [Term] id: HP:0003858 name: Cortical diaphyseal irregularity of the upper limbs xref: UMLS:C4025549 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003859 name: Cortical diaphyseal thickening of the upper limbs xref: UMLS:C4025548 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003860 name: Diaphyseal sclerosis of the upper limbs def: "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density in central part of long bone of upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025547 is_a: HP:0003034 ! Diaphyseal sclerosis is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003861 name: Broad diaphyses of the upper limbs synonym: "Broad shaft of long bone of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide diaphyses of the upper limbs" EXACT [] synonym: "Wide shaft of long bone of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021718 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003862 name: Absent humerus def: "Missing humerus bone associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the humerus" EXACT [] synonym: "Aplastic humerus" EXACT [] xref: UMLS:C2678399 is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0003863 name: Angulated humerus synonym: "Angulated long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025546 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003864 name: Bifid humerus def: "Clefting affecting the humerus." [https://orcid.org/0000-0002-0736-9199] synonym: "Notched long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025545 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003865 name: Bowed humerus def: "A bending or abnormal curvature of the humerus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bowed long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bowing of the humerus" EXACT [] synonym: "Humeral bowing" EXACT [] xref: UMLS:C1859460 is_a: HP:0006488 ! Bowing of the arm is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003866 name: Coarse humeral trabeculae xref: UMLS:C4025544 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003867 name: Humeral cortical irregularity xref: UMLS:C4025543 is_a: HP:0005731 ! Cortical irregularity is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus [Term] id: HP:0003868 name: Humeral cortical thickening xref: UMLS:C4025542 is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus [Term] id: HP:0003869 name: Humeral cortical thinning xref: UMLS:C4025541 is_a: HP:0002753 ! Thin bony cortex is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus [Term] id: HP:0003870 name: Crumpled humerus alt_id: HP:0003873 synonym: "Crumpled long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025540 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003871 name: Deformed humerus synonym: "Deformed long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025539 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003872 name: Humeral exostoses def: "Presence of more than one exostosis originating in one or both humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025538 is_a: HP:0002762 ! Multiple exostoses is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003874 name: Humerus varus subset: hposlim_core xref: UMLS:C4025537 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003875 name: Humeral lytic defects def: "Destruction of an area of humerus bone due to a disease process, such as cancer." [] comment: Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone. synonym: "Lytic defects of the humerus" EXACT [] xref: UMLS:C4025536 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003876 name: Osteoporotic humerus xref: UMLS:C4025535 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003877 name: Oval transradiancy of humerus synonym: "Humeral oval transradiancy" EXACT [] xref: UMLS:C4025534 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003878 name: Periosteal new bone of humerus xref: UMLS:C4025533 is_a: HP:0030314 ! Periostosis is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003879 name: Humeral pseudarthrosis synonym: "False joint (long bone in upper arm)" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025532 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003880 name: Sclerotic foci of the humerus synonym: "Humeral sclerotic foci" EXACT [] xref: UMLS:C4021717 is_a: HP:0003881 ! Humeral sclerosis [Term] id: HP:0003881 name: Humeral sclerosis synonym: "Increased bone density in long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Sclerosis of humerus" EXACT [] xref: UMLS:C4021716 is_a: HP:0006392 ! Increased density of long bones is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003882 name: Slender humerus def: "Reduction in diameter of the humerus." [https://orcid.org/0000-0002-0736-9199] synonym: "Slender long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021851 is_a: HP:0003100 ! Slender long bone is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003883 name: Tapered humerus synonym: "Tapered long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025531 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003884 name: Triangular humerus synonym: "Triangular long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025530 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003885 name: Undermodeled humerus xref: UMLS:C4025529 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003886 name: Wide humerus synonym: "Broad humerus" EXACT [] synonym: "Wide long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021715 is_a: HP:0005622 ! Broad long bones is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003887 name: Abnormal humeral head morphology synonym: "Abnormal head of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the humeral heads" EXACT [] xref: UMLS:C4025528 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003888 name: Flattened humeral heads synonym: "Flattended head of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3808869 is_a: HP:0003887 ! Abnormal humeral head morphology [Term] id: HP:0003889 name: Abnormal deltoid tuberosity morphology synonym: "Abnormality of the deltoid tuberosities" EXACT [] xref: UMLS:C4025527 is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003890 name: Prominent deltoid tuberosities xref: UMLS:C2674600 is_a: HP:0003889 ! Abnormal deltoid tuberosity morphology [Term] id: HP:0003891 name: Abnormal humeral epiphysis morphology def: "An anomaly of the humeral epiphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of end part of the long bone of the upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the humeral epiphyses" EXACT [] synonym: "Abnormality of the humeral epiphysis" EXACT [] xref: UMLS:C4021714 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003892 name: Absent humeral epiphyseal ossification def: "Lack of formation of bone in the epiphysis of the humerus." [https://orcid.org/0000-0002-0736-9199] comment: Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation. synonym: "Absent maturation of end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent ossification of the humeral epiphyses" EXACT [] xref: UMLS:C4021713 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003893 name: Advanced ossification of the humeral epiphysis def: "Ossification of the humeral epiphysis at an earlier age than normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Accelerated maturation of end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Advanced maturation of the humeral epiphyses" RELATED [] xref: UMLS:C4020836 xref: UMLS:C4025526 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0003894 name: Delayed humeral epiphyseal ossification def: "A delay in the process of formation and maturation of the humeral epiphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed maturation of the end part of the long bone in upper arm" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Delayed maturation/delayed ossification of the humeral epiphyses" EXACT [] xref: UMLS:C4021712 xref: UMLS:C4280543 is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003891 ! Abnormal humeral epiphysis morphology [Term] id: HP:0003895 name: Flattened humeral epiphyses synonym: "Flattened end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025525 is_a: HP:0003071 ! Flattened epiphysis is_a: HP:0003891 ! Abnormal humeral epiphysis morphology [Term] id: HP:0003896 name: Irregular humeral epiphyses synonym: "Irregular end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025524 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003891 ! Abnormal humeral epiphysis morphology [Term] id: HP:0003897 name: Irregular ossification of the humeral epiphyses synonym: "Irregular maturation of the end part of the long bone in upper arm" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025523 xref: UMLS:C4280542 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology is_a: HP:0010656 ! Abnormal epiphyseal ossification is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003898 name: Large humeral epiphyses synonym: "Large end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025522 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003899 name: Round humeral epiphyses synonym: "Round end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025521 is_a: HP:0003843 ! Round epiphyses of the upper limbs is_a: HP:0003891 ! Abnormal humeral epiphysis morphology [Term] id: HP:0003900 name: Small humeral epiphyses synonym: "Small end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025520 is_a: HP:0003844 ! Small epiphyses of the upper limbs is_a: HP:0003891 ! Abnormal humeral epiphysis morphology [Term] id: HP:0003901 name: Stippled calcification of the humeral epiphyses xref: UMLS:C4025519 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology [Term] id: HP:0003902 name: Epiphyseal stippling of the humerus def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Stippled ossification of the humeral epiphyses" EXACT [] xref: UMLS:C4021711 is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0003903 name: Broad humeral epiphyses def: "Increased width of the humeral epiphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide end part of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide humeral epiphyses" EXACT [] xref: UMLS:C4021710 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology is_a: HP:0003904 ! Wide epiphyses of the upper limbs [Term] id: HP:0003904 name: Wide epiphyses of the upper limbs synonym: "Broad epiphyses of the upper limbs" EXACT [] synonym: "Wide end part of upper limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021709 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003905 name: Abnormality of the humeral epiphyseal plate synonym: "Abnormality of arm long bone growth plate" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025518 xref: UMLS:C4280541 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology [Term] id: HP:0003906 name: Broad humeral epiphyseal plate def: "Increased width of the humeral epiphyseal growth plate." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide humeral epiphyseal plate" EXACT [] synonym: "Wide long bone of arm growth plate" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021708 xref: UMLS:C4280540 is_a: HP:0003846 ! Wide epiphyseal plates of the upper limbs is_a: HP:0003905 ! Abnormality of the humeral epiphyseal plate [Term] id: HP:0003907 name: Abnormal humeral metaphysis morphology synonym: "Abnormality of the humeral metaphyses" EXACT [] synonym: "Abnormality of the wide portion of the long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025517 is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003908 name: Corner fracture of metaphysis def: "Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias." [PMID:15206413, PMID:20544318] comment: A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure. synonym: "Bucket handle fracture" EXACT [] synonym: "Metaphyseal corner fracture" EXACT [] xref: UMLS:C4025516 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0003909 name: Cortical subperiosteal resorption of humeral metaphyses xref: UMLS:C4025515 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003910 name: Enlarged humeral metaphyses synonym: "Enlarged wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Expanded humeral metaphyses" EXACT [] xref: UMLS:C4021707 is_a: HP:0003051 ! Enlarged metaphyses is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003911 name: Flared humeral metaphysis alt_id: HP:0003925 def: "Flaring (increase of width with a splayed appearance) of the humeral metaphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Flared humerus" RELATED [] synonym: "Flared wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide/broad humeral metaphysis" EXACT [] xref: UMLS:C4020835 xref: UMLS:C4020912 is_a: HP:0003849 ! Flared upper limb metaphysis is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003912 name: Frayed humeral metaphyses xref: UMLS:C4025514 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003913 name: Humeral metaphyseal irregularity synonym: "Irregular humeral metaphyses" EXACT [] synonym: "Irregular wide portion of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021706 is_a: HP:0003850 ! Upper-limb metaphyseal irregularity is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003914 name: Irregular ossification of humeral metaphyses synonym: "Irregular bone maturation of the wide portion of the long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025513 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003915 name: Lytic defects of the humeral metaphysis xref: UMLS:C4025512 is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003916 name: Normal-density transverse humeral bands comment: Normal-density transverse bands of the humerus xref: UMLS:C4025511 is_a: HP:0003852 ! Normal density transverse bands in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003917 name: Pointed humeral metaphysis synonym: "Pointed wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025510 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003918 name: Sclerotic humeral metaphysis synonym: "Hardening of wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stiffening of wide portion of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025509 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003919 name: Sclerotic humeral metaphysis with longitudinal striations xref: UMLS:C4025508 is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0003920 name: Sloping humeral metaphysis synonym: "Sloping metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025507 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003921 name: Laterally sloping humeral metaphysis synonym: "Laterally sloping metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025506 is_a: HP:0003920 ! Sloping humeral metaphysis [Term] id: HP:0003922 name: Spurred humeral metaphysis synonym: "Spurred metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025505 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003923 name: Square humeral metaphysis synonym: "Square metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025504 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003924 name: Stippled calcification of humeral metaphysis synonym: "Speckled calcification in metaphysis of long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025503 is_a: HP:0003907 ! Abnormal humeral metaphysis morphology [Term] id: HP:0003926 name: Abnormal humeral diaphysis morphology def: "An anomaly of the humeral diaphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the humeral diaphysis" EXACT [] xref: UMLS:C4025502 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003927 name: Cortical irregularity of humeral diaphysis def: "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025501 is_a: HP:0003858 ! Cortical diaphyseal irregularity of the upper limbs is_a: HP:0003867 ! Humeral cortical irregularity is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003928 name: Cortical thickening of humeral diaphysis xref: UMLS:C4025500 is_a: HP:0003859 ! Cortical diaphyseal thickening of the upper limbs is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003929 name: Ground glass opacity of humeral diaphysis xref: UMLS:C4025499 is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003930 name: Lytic defects of humeral diaphysis synonym: "Humeral diaphyseal lysis" EXACT [] xref: UMLS:C4021705 is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003931 name: Periosteal new bone of humeral diaphysis xref: UMLS:C4025498 is_a: HP:0003926 ! Abnormal humeral diaphysis morphology is_a: HP:0030314 ! Periostosis [Term] id: HP:0003932 name: Sclerotic foci of humeral diaphysis xref: UMLS:C4025497 is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003933 name: Sclerosis of humeral diaphysis synonym: "Increased bone density in shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025496 is_a: HP:0003860 ! Diaphyseal sclerosis of the upper limbs is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003934 name: Slender humeral diaphysis synonym: "Slender shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025495 is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003935 name: Wide humeral diaphysis def: "Increased width of the humeral diaphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad humeral diaphysis" EXACT [] synonym: "Broad shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide shaft of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021704 is_a: HP:0003861 ! Broad diaphyses of the upper limbs is_a: HP:0003926 ! Abnormal humeral diaphysis morphology [Term] id: HP:0003938 name: Synostosis involving the elbow synonym: "Bone fusion involving the elbow" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025494 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0003939 name: Humeroulnar synostosis def: "An abnormal osseous union (fusion) between the ulna and the humerus." [https://orcid.org/0000-0002-0736-9199] synonym: "Humeral ulnar synostosis" EXACT [] xref: SNOMEDCT_US:205330003 xref: UMLS:C0431799 is_a: HP:0003938 ! Synostosis involving the elbow is_a: HP:0100745 ! Abnormality of the humeroulnar joint [Term] id: HP:0003940 name: Osteoarthritis of the elbow xref: SNOMEDCT_US:239866002 xref: UMLS:C0409954 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003941 name: Stippled calcification of the elbow xref: UMLS:C4025493 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003942 name: Synovial chondromatosis of the elbow xref: UMLS:C4025492 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003943 name: Abnormality of the joint spaces of the elbow synonym: "Abnormality of the joint spaces of the elbow" EXACT layperson [] xref: UMLS:C4025491 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003944 name: Narrow joint spaces of the elbow synonym: "Narrow joint spaces of the elbow" EXACT layperson [] xref: UMLS:C4025490 is_a: HP:0003943 ! Abnormality of the joint spaces of the elbow [Term] id: HP:0003945 name: Irregular articular surfaces of the elbow joints xref: UMLS:C4025489 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003946 name: Abnormality of the epiphyses of the elbow synonym: "Abnormality of end part of the elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025488 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003947 name: Delayed elbow epiphyseal ossification def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed maturation of the end part of the elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025487 is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003948 name: Irregular epiphyses of the elbow synonym: "Irregular end part of the elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025486 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003949 name: Abnormal elbow metaphysis morphology synonym: "Abnormal wide portion of elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025485 is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003950 name: Flared elbow metaphyses synonym: "Flared wide portion of elbow bone" EXACT layperson [] xref: UMLS:C4025484 is_a: HP:0003849 ! Flared upper limb metaphysis is_a: HP:0003949 ! Abnormal elbow metaphysis morphology [Term] id: HP:0003951 name: Distal humeral metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow)." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular metaphyses of elbow" EXACT [] synonym: "Irregular wide portion of elbow bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021703 is_a: HP:0003913 ! Humeral metaphyseal irregularity is_a: HP:0003949 ! Abnormal elbow metaphysis morphology [Term] id: HP:0003952 name: Sclerotic foci of metaphyses of the elbow synonym: "Vertical linear mixed lucent and sclerotic pattern of metaphyses" EXACT [] xref: UMLS:C4021702 is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0003949 ! Abnormal elbow metaphysis morphology [Term] id: HP:0003953 name: Absent forearm bone def: "Absence of one or more forearm bones associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent forearm bone" EXACT layperson [] synonym: "Aplasia of the forearm bones" EXACT [] xref: UMLS:C4021701 is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones [Term] id: HP:0003954 name: Angulated forearm bones synonym: "Angulated forearm bones" EXACT layperson [] xref: UMLS:C4025483 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003955 name: Bone-in-a-bone appearance of forearm def: "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography." [https://orcid.org/0000-0002-0736-9199] synonym: "Bone-in-a-bone appearance of forearm" EXACT layperson [] xref: UMLS:C4025482 is_a: HP:0002973 ! Abnormal forearm morphology [Term] id: HP:0003956 name: Bowed forearm bones def: "A bending or abnormal curvature affecting either the radius, the ulna, or both." [https://orcid.org/0000-0002-0736-9199] synonym: "Bowed forearm bones" EXACT layperson [] xref: UMLS:C4025481 is_a: HP:0006488 ! Bowing of the arm is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003957 name: Cortical thickening of the forearm bones xref: UMLS:C4021842 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003958 name: Cross-fusion of the forearm bones xref: UMLS:C4025480 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003959 name: Deformed forearm bones synonym: "Deformed forearm bones" EXACT layperson [] xref: UMLS:C4025479 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003960 name: Exostoses of the forearm bones xref: UMLS:C4025478 is_a: HP:0040072 ! Abnormal forearm bone morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0003961 name: Fractured forearm bone def: "Bone fracture in the radius, ulna, or wrist." [] synonym: "Broken forearm" EXACT [] synonym: "Fracture of the forearm" EXACT [] synonym: "Fractured forearm bones" EXACT plural_form [] xref: UMLS:C4025477 is_a: HP:0020110 ! Bone fracture is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003963 name: Lytic defects of the forearm bones xref: UMLS:C4025476 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003964 name: Osteoporotic forearm bones xref: UMLS:C4025475 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003965 name: Pseudarthrosis of the forearm bones xref: UMLS:C4025474 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003966 name: Sclerotic foci in forearm bones xref: UMLS:C4025473 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003967 name: Sclerotic forearm bones synonym: "Increased bone density of forearm bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025472 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003969 name: Slender forearm bones xref: UMLS:C4025471 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003970 name: Undermodelled forearm bones xref: UMLS:C4025470 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003971 name: Broad forearm bones def: "Abnormally wide bone of the skeleton of forearm." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad forearm bones" EXACT layperson [] synonym: "Wide forearm bones" EXACT layperson [] xref: UMLS:C4021700 is_a: HP:0040072 ! Abnormal forearm bone morphology [Term] id: HP:0003973 name: Wide radioulnar joints synonym: "Broad radioulnar joints" EXACT [] xref: UMLS:C4021699 is_a: HP:0003037 ! Enlarged joints is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0003974 name: Absent radius alt_id: HP:0002819 alt_id: HP:0005012 def: "Missing radius bone associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "absence of radius and ulna" EXACT [] synonym: "Absent ossification/absence of radius" EXACT [] synonym: "Aplasia of the radius" EXACT [] synonym: "Missing outer large bone of forearm" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Radial aplasia" EXACT [] xref: UMLS:C1405984 xref: UMLS:C1838608 xref: UMLS:C1849314 is_a: HP:0003953 ! Absent forearm bone is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009822 ! Aplasia involving forearm bones [Term] id: HP:0003975 name: obsolete Chevron-shaped/cone-shaped radius is_obsolete: true replaced_by: HP:0004000 [Term] id: HP:0003976 name: Constricted radius xref: UMLS:C4025468 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0003977 name: Deformed radius alt_id: HP:0005046 xref: UMLS:C4025467 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003959 ! Deformed forearm bones [Term] id: HP:0003978 name: Fractured radius xref: SNOMEDCT_US:12676007 xref: UMLS:C0034628 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003961 ! Fractured forearm bone is_a: HP:0025736 ! Long-bone fracture [Term] id: HP:0003979 name: Lytic defects of the radius xref: UMLS:C4021841 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003963 ! Lytic defects of the forearm bones [Term] id: HP:0003980 name: Pseudarthrosis of the radius xref: UMLS:C4025466 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003965 ! Pseudarthrosis of the forearm bones [Term] id: HP:0003981 name: Broad radius def: "Increased width of the radius." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide radius" EXACT [] xref: UMLS:C4021698 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003971 ! Broad forearm bones is_a: HP:0005622 ! Broad long bones [Term] id: HP:0003982 name: Aplasia of the ulna def: "Missing ulna bone associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent ossification/absent ulna" EXACT [] synonym: "Absent ulna" EXACT [] synonym: "Absent ulnae" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2678397 is_a: HP:0003953 ! Absent forearm bone is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna is_a: HP:0009822 ! Aplasia involving forearm bones [Term] id: HP:0003984 name: Posteriorly dislocated ulna xref: UMLS:C4025465 is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003985 name: Exostoses of the ulna xref: UMLS:C4025464 is_a: HP:0003960 ! Exostoses of the forearm bones is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003986 name: Exostoses of the radius xref: UMLS:C4025463 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003960 ! Exostoses of the forearm bones [Term] id: HP:0003987 name: Fractured ulna xref: SNOMEDCT_US:54556006 xref: UMLS:C0041601 is_a: HP:0003961 ! Fractured forearm bone is_a: HP:0025736 ! Long-bone fracture is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003988 name: Long ulna alt_id: HP:0006435 def: "Increased length of the ulna." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Disproportionately long ulnae" EXACT [] xref: UMLS:C1848108 is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003989 name: Notched ulna xref: UMLS:C4025462 is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003990 name: Pointed ulna xref: UMLS:C4025461 is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003991 name: Osteosclerosis of the ulna def: "Osteosclerosis (increased density related to increased bone mass) of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Sclerotic ulna" EXACT [] xref: UMLS:C4021697 is_a: HP:0003967 ! Sclerotic forearm bones is_a: HP:0006392 ! Increased density of long bones is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003992 name: Slender ulna def: "Reduction in diameter of the ulna." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1968814 is_a: HP:0003100 ! Slender long bone is_a: HP:0003969 ! Slender forearm bones is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003993 name: Broad ulna alt_id: HP:0200081 def: "Increased width of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide ulna" RELATED [] xref: UMLS:C4020692 xref: UMLS:C4025460 is_a: HP:0003971 ! Broad forearm bones is_a: HP:0005622 ! Broad long bones is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003994 name: Dislocated wrist alt_id: HP:0004992 def: "An injury of the wrist with displacement of any of the eight carpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Dislocated wrist" EXACT layperson [] synonym: "Dislocations of the wrists" EXACT layperson [] xref: MEDDRA:10013184 "Dislocation of wrist" xref: SNOMEDCT_US:125618007 xref: UMLS:C0159941 is_a: HP:0025799 ! Abnormal wrist physiology is_a: HP:0030310 ! Upper extremity joint dislocation [Term] id: HP:0003995 name: Abnormality of the radial head synonym: "Deformity of radial heads" EXACT [] xref: UMLS:C4021696 is_a: HP:0002818 ! Abnormal morphology of the radius [Term] id: HP:0003996 name: Flattened radial head xref: UMLS:C4025459 is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003997 name: Hypoplastic radial head synonym: "Small radial head" EXACT [] xref: UMLS:C4021695 is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003998 name: Constricted radial neck xref: UMLS:C4025458 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0003999 name: Abnormality of radial epiphyses alt_id: HP:0004011 synonym: "Abnormality of radial epiphyseal plates" EXACT [] xref: UMLS:C4021694 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology [Term] id: HP:0004000 name: Cone-shaped distal radial epiphysis alt_id: HP:0003975 def: "The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance." [] comment: The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous. synonym: "Chevron-shaped distal radial epiphysis" EXACT [] xref: UMLS:C4025457 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0004001 name: Medially deficient radial epiphyses xref: UMLS:C4025456 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004002 name: Flattened radial epiphyses xref: UMLS:C4025455 is_a: HP:0003071 ! Flattened epiphysis is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004003 name: Medially flattened radial epiphyses xref: UMLS:C4025454 is_a: HP:0004002 ! Flattened radial epiphyses [Term] id: HP:0004004 name: Irregular radial epiphyses xref: UMLS:C4025453 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0004005 name: Large radial epiphyses xref: UMLS:C4025452 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0004006 name: Round radial epiphyses xref: UMLS:C4025451 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004007 name: Sclerotic radial epiphyses xref: UMLS:C4025450 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004008 name: Sloping radial epiphyses xref: UMLS:C4025449 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004009 name: Medially sloping radial epiphyses xref: UMLS:C4025448 is_a: HP:0004008 ! Sloping radial epiphyses [Term] id: HP:0004010 name: Small radial epiphyses xref: UMLS:C4025447 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010585 ! Small epiphyses [Term] id: HP:0004012 name: Premature fusion of the radial epiphyseal plates def: "A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone." [https://orcid.org/0009-0006-4530-3154] comment: The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis). xref: UMLS:C4025446 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004013 name: Medially fused radial epiphyseal plates xref: UMLS:C4025445 is_a: HP:0004012 ! Premature fusion of the radial epiphyseal plates [Term] id: HP:0004014 name: Broad radial epiphyseal plate def: "Abnormal increase in width of the epiphyseal growth plate of the radius." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide radial epiphyseal plates" EXACT [] xref: UMLS:C4021693 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004015 name: Abnormal radial metaphysis morphology synonym: "Abnormality of radial metaphyses" EXACT [] xref: UMLS:C4025444 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology [Term] id: HP:0004016 name: Cupped radial metaphyses xref: UMLS:C4025443 is_a: HP:0003848 ! Cupped metaphyses of the upper limbs is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004017 name: Exostoses of the radial metaphysis xref: UMLS:C4025442 is_a: HP:0003986 ! Exostoses of the radius is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004018 name: Flared radial metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the radius." [https://orcid.org/0000-0002-0736-9199] synonym: "Broadening of the distal radius" RELATED [] xref: UMLS:C4025441 is_a: HP:0003849 ! Flared upper limb metaphysis is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004019 name: Radial metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis of the radius." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular radial metaphysis" EXACT [] xref: UMLS:C4021692 is_a: HP:0003850 ! Upper-limb metaphyseal irregularity is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004020 name: Irregular ossification of the radial metaphysis xref: UMLS:C4025440 is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004021 name: Lytic defects of radial metaphysis xref: UMLS:C4025439 is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004022 name: Sclerotic radial metaphysis with longitudinal striations xref: UMLS:C4025438 is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004023 name: Sloping radial metaphysis xref: UMLS:C4025437 is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004024 name: Medially sloping radial metaphysis xref: UMLS:C4025436 is_a: HP:0004023 ! Sloping radial metaphysis [Term] id: HP:0004025 name: Spurred radial metaphysis xref: UMLS:C4025435 is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004026 name: Broad radial metaphysis def: "Increase in width (breadth) of the radial metaphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide radial metaphysis" EXACT [] xref: UMLS:C4021691 is_a: HP:0003856 ! Upper limb metaphyseal widening is_a: HP:0003981 ! Broad radius is_a: HP:0004015 ! Abnormal radial metaphysis morphology [Term] id: HP:0004027 name: Abnormality of radial diaphysis def: "An anomaly of the radial diaphysis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025434 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0004028 name: Spurs of radial diaphysis xref: UMLS:C4025433 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004029 name: Lytic defects of radial diaphysis xref: UMLS:C4025432 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004030 name: Patchy sclerosis of radial diaphysis xref: UMLS:C4025431 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004031 name: Broad radial diaphysis def: "Increase in width of the diaphysis of radius." [https://orcid.org/0000-0002-0736-9199] comment: Increased diameter of the shaft (diaphysis) of the radius. synonym: "Wide radial diaphysis" EXACT [] xref: UMLS:C4021690 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004032 name: Abnormal olecranon morphology def: "Any structural abnormality of the olecranon, a bony eminence of the proximal ulna." [] synonym: "Abnormality of the olecranon" EXACT [] xref: UMLS:C4025430 is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0004033 name: Curved olecranon xref: UMLS:C4025429 is_a: HP:0004032 ! Abnormal olecranon morphology [Term] id: HP:0004034 name: Irregular olecranon xref: UMLS:C4025428 is_a: HP:0004032 ! Abnormal olecranon morphology [Term] id: HP:0004035 name: Abnormal ulnar styloid process morphology synonym: "Abnormality of the styloid process of ulna" EXACT [] xref: UMLS:C4025427 is_a: HP:0004037 ! Abnormal ulnar epiphysis morphology [Term] id: HP:0004036 name: Long styloid process of ulna xref: UMLS:C4025426 is_a: HP:0004035 ! Abnormal ulnar styloid process morphology [Term] id: HP:0004037 name: Abnormal ulnar epiphysis morphology synonym: "Abnormality of the epiphyseal plate of the ulna" EXACT [] synonym: "Abnormality of the ulnar epiphyses" EXACT [] xref: UMLS:C4021689 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0004038 name: obsolete Bony spicule of ulnar epiphyseal plate comment: obsoleted on July 11, 2019. is_obsolete: true [Term] id: HP:0004039 name: Abnormal ulnar metaphysis morphology def: "Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis." [] synonym: "Abnormality of ulnar metaphysis" EXACT [] xref: UMLS:C4025424 is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0004040 name: Corner fragments of ulnar metaphysis xref: UMLS:C4025423 is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology [Term] id: HP:0004041 name: Cupped ulnar metaphysis xref: UMLS:C4025422 is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology [Term] id: HP:0004042 name: Ulnar metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular ulnar metaphysis" EXACT [] xref: UMLS:C4021688 is_a: HP:0003850 ! Upper-limb metaphyseal irregularity is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology [Term] id: HP:0004043 name: Lytic defects of ulnar metaphysis xref: UMLS:C4025421 is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs [Term] id: HP:0004044 name: Pointed ulnar metaphysis xref: UMLS:C4025420 is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology [Term] id: HP:0004045 name: Sloping ulnar metaphysis def: "A sloped configuration of the metaphysis (shaft) of the ulna." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025419 is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology [Term] id: HP:0004046 name: Spurred ulnar metaphysis xref: UMLS:C4025418 is_a: HP:0003855 ! Spurred metaphyses of the upper limbs is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology [Term] id: HP:0004047 name: Wide ulnar metaphysis def: "Increase in width (breadth) of the ulnar metaphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad ulnar metaphysis" EXACT [] xref: UMLS:C4021687 is_a: HP:0003856 ! Upper limb metaphyseal widening is_a: HP:0004039 ! Abnormal ulnar metaphysis morphology [Term] id: HP:0004048 name: Narrow joint spaces of wrist xref: UMLS:C4025417 is_a: HP:0025798 ! Abnormal wrist morphology [Term] id: HP:0004049 name: Decreased carpal angles of wrist xref: UMLS:C4025416 is_a: HP:0025798 ! Abnormal wrist morphology [Term] id: HP:0004050 name: Absent hand def: "The total absence of the hand, with no bony elements distal to the radius or ulna." [PMID:19125433] subset: hposlim_core synonym: "Absent hand" EXACT layperson [] synonym: "Acheiria" EXACT [] xref: SNOMEDCT_US:371199008 xref: UMLS:C0265594 is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand is_a: HP:6000918 ! Transverse terminal upper limb defect [Term] id: HP:0004051 name: Advanced ossification of the hand bones def: "Ossification of hand bones at an earlier age than normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Accelerated maturation of hand bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Advanced maturation of the hand bones" RELATED [] xref: UMLS:C4020834 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004052 name: Delayed ossification of the hand bones def: "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Delay maturation/delayed ossification of the hand" EXACT [] synonym: "Delayed maturation of the hand bones" RELATED layperson [] xref: UMLS:C4020833 xref: UMLS:C4021686 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004053 name: Dysharmonic maturation of the hand bones alt_id: HP:0006204 def: "Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Disharmonic maturation of the hand bones" EXACT [] synonym: "Dysharmonic ossification of the hand bones" EXACT [] xref: UMLS:C4021685 is_a: HP:0010660 ! Abnormal hand bone ossification is_a: HP:0200000 ! Dysharmonic skeletal maturation [Term] id: HP:0004054 name: Sclerosis of hand bone alt_id: HP:0004055 def: "Osteosclerosis affecting one or more bones of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised sclerosis of hand bones" EXACT uk_spelling [] synonym: "Generalized sclerosis of hand bones" EXACT [] synonym: "Hand bone sclerosis" EXACT [] synonym: "Increased bone density in hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density in hand bones" EXACT [] xref: UMLS:C4021684 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004057 name: Mitten deformity def: "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity." [https://orcid.org/0000-0002-0736-9199, PMID:20301304] comment: Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly. synonym: "Pseudosyndactyly" EXACT [] xref: UMLS:C1969236 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004058 name: Hand monodactyly xref: UMLS:C4025415 is_a: HP:0009380 ! Finger aplasia [Term] id: HP:0004059 name: Radial club hand def: "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. The hand is radially deviated at the distal forearm in the shape of a golf club." [https://orcid.org/0000-0002-0736-9199, PMID:28603568] xref: UMLS:C4025414 is_a: HP:0006433 ! Radial dysplasia is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0004060 name: Trident hand def: "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits." [https://orcid.org/0000-0002-0736-9199] comment: This abnormality is often seen in patients with achondroplasia. subset: hposlim_core synonym: "trident abnormality" EXACT [] synonym: "trident deformity" EXACT [] xref: SNOMEDCT_US:249755001 xref: UMLS:C0426874 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0004066 name: obsolete Laterally deviated thumb phalanges is_obsolete: true consider: HP:0009602 [Term] id: HP:0004083 name: obsolete Laterally deviated terminal thumb phalanx is_obsolete: true consider: HP:0005895 [Term] id: HP:0004090 name: obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis is_obsolete: true consider: HP:0009662 [Term] id: HP:0004095 name: Curved fingers synonym: "Curved fingers" EXACT layperson [] xref: UMLS:C4025413 is_a: HP:0001167 ! Abnormal finger morphology is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004097 name: Deviation of finger alt_id: HP:0006229 def: "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [https://orcid.org/0000-0002-0736-9199] synonym: "Atypical position of finger" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Deviated fingers" EXACT [] synonym: "Finger pointing in a different direction than usual" EXACT layperson [] xref: SNOMEDCT_US:203556007 xref: SNOMEDCT_US:26517000 xref: UMLS:C0410740 is_a: HP:0001167 ! Abnormal finger morphology is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0004099 name: Macrodactyly def: "Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit." [PMID:19125433] comment: There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width. subset: hposlim_core synonym: "Finger overgrowth" EXACT layperson [https://orcid.org/0009-0006-4530-3154] synonym: "Megalodactyly" EXACT [] xref: MEDDRA:10025386 "Macrodactyly" xref: SNOMEDCT_US:48449000 xref: UMLS:C0265552 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0004100 name: Abnormal 2nd finger morphology def: "An anomaly of the second finger, also known as the index finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of index finger" EXACT layperson [] synonym: "Abnormality of the 2nd finger" EXACT [] xref: UMLS:C4021683 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0004110 name: obsolete Radially deviated index finger phalanges is_obsolete: true consider: HP:0009542 [Term] id: HP:0004112 name: Midline nasal groove def: "An abnormal groove on the midline of the nose that may extend to the nasal tip." [https://orcid.org/0009-0006-4530-3154] synonym: "Central nasal groove" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midline nasal groove" EXACT layperson [] xref: UMLS:C4025412 is_a: HP:0004122 ! Midline defect of the nose property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-21T04:59:08Z [Term] id: HP:0004121 name: obsolete Radially displaced proximal index finger phalanx is_obsolete: true consider: HP:0009544 [Term] id: HP:0004122 name: Midline defect of the nose alt_id: HP:0003190 def: "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [https://orcid.org/0009-0006-4530-3154] synonym: "Central cleft of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Central defect of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Central nasal defect" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Midline cleft of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midline defect of the nose" EXACT layperson [] synonym: "Midline nasal defect" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025411 xref: UMLS:C4280539 is_a: HP:0005105 ! Abnormal nasal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-21T04:59:54Z [Term] id: HP:0004132 name: Dimple on nasal tip def: "An abnormal indentation of the skin in the region of the nasal tip." [https://orcid.org/0009-0006-4530-3154] synonym: "Dimple on nasal tip" EXACT layperson [] synonym: "Dimpled tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1863349 is_a: HP:0000436 ! Abnormal nasal tip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-21T05:05:55Z [Term] id: HP:0004138 name: obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger is_obsolete: true consider: HP:0009541 [Term] id: HP:0004139 name: obsolete Flared metaphysis of middle phalanx of index finger is_obsolete: true consider: HP:0009569 [Term] id: HP:0004143 name: obsolete Radially deviated terminal index finger phalanx is_obsolete: true consider: HP:0009542 [Term] id: HP:0004144 name: obsolete Duplication of terminal index finger phalanx is_obsolete: true replaced_by: HP:0009948 [Term] id: HP:0004150 name: Abnormal 3rd finger morphology def: "An anomaly of the third finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the 3rd finger" EXACT [] synonym: "Abnormality of the middle finger" EXACT [] xref: UMLS:C4021682 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0004153 name: obsolete Overgrowth of middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004157 name: obsolete Accessory middle-finger phalanges is_obsolete: true replaced_by: HP:0009963 [Term] id: HP:0004161 name: obsolete Periosteal new bone of middle finger phalanges is_obsolete: true consider: HP:0009316 [Term] id: HP:0004162 name: obsolete Radially pointed middle finger phalanges is_obsolete: true consider: HP:0009316 [Term] id: HP:0004168 name: obsolete Radially pointed proximal middle-finger phalanx is_obsolete: true consider: HP:0009316 [Term] id: HP:0004172 name: Abnormality of the middle phalanx of the 3rd finger synonym: "Abnormal middle finger bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025410 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology [Term] id: HP:0004174 name: obsolete Accessory middle phalanx of middle finger is_obsolete: true replaced_by: HP:0009963 [Term] id: HP:0004175 name: obsolete Periosteal new bone of middle phalanx of middle-finger is_obsolete: true consider: HP:0004172 [Term] id: HP:0004180 name: Short distal phalanx of the 3rd finger alt_id: HP:0004182 def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic/small distal phalanx of the 3rd finger" EXACT [] synonym: "Short distal phalanx of the third finger" EXACT [] synonym: "Short outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short terminal phalanx of middle finger" EXACT [] xref: UMLS:C4021681 is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger is_a: HP:0009882 ! Short distal phalanx of finger [Term] id: HP:0004183 name: obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger is_obsolete: true consider: HP:0009357 [Term] id: HP:0004184 name: obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009423 [Term] id: HP:0004185 name: obsolete Fused epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004186 name: obsolete Large epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004187 name: obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004188 name: Abnormal 4th finger morphology synonym: "Abnormality of the 4th finger" EXACT [] synonym: "Abnormality of the ring finger" EXACT [] xref: UMLS:C4021680 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0004192 name: obsolete Bracket epiphyses of the 4th finger is_obsolete: true replaced_by: HP:0009394 [Term] id: HP:0004193 name: obsolete Expanded phalanges of the ring finger is_obsolete: true consider: HP:0009172 [Term] id: HP:0004194 name: obsolete Hypoplastic phalanges of the ring finger is_obsolete: true consider: HP:0009408 [Term] id: HP:0004195 name: Osteolytic defects of the phalanges of the 4th finger def: "Osteolytic defects of the phalanges of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Lytic defects of the phalanges of the ring finger" RELATED [] xref: UMLS:C4020832 xref: UMLS:C4025409 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004196 name: obsolete Short phalanges of the ring finger is_obsolete: true consider: HP:0009408 [Term] id: HP:0004197 name: Symphalangism of the 4th finger def: "Fusion of two or more bones of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism of the ring finger" EXACT [] xref: UMLS:C4021679 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004198 name: obsolete Wide/broad phalanges of the ring finger is_obsolete: true consider: HP:0009172 [Term] id: HP:0004201 name: obsolete Expanded proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009310 [Term] id: HP:0004202 name: obsolete Lytic defects of the proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009312 [Term] id: HP:0004203 name: obsolete Short proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009300 [Term] id: HP:0004207 name: Abnormal 5th finger morphology def: "An abnormality affecting one or both 5th fingers." [https://orcid.org/0009-0006-4530-3154] synonym: "Abnormality of the 5th finger" EXACT [] synonym: "Abnormality of the little finger" EXACT layperson [] synonym: "Abnormality of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021678 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0004209 name: Clinodactyly of the 5th finger alt_id: HP:0001158 alt_id: HP:0001588 alt_id: HP:0004212 alt_id: HP:0006083 alt_id: HP:0006181 alt_id: HP:0009181 def: "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [https://orcid.org/0000-0002-0736-9199, PMID:16252026] comment: Minor degrees of curvature of the small finger are so common as to be considered normal. synonym: "Bilateral fifth digit clinodactyly" EXACT [] synonym: "Bilateral fifth finger clinodactyly" EXACT [] synonym: "Clinodactyly of fifth digit" EXACT [] synonym: "Clinodactyly of the little finger" EXACT [] synonym: "Curvature of little finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of pinkie finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of pinky finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fifth finger clinodactyly" EXACT [] synonym: "Permanent curving of the pinkie finger" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1850049 xref: UMLS:C4280538 is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0040019 ! Finger clinodactyly [Term] id: HP:0004213 name: Abnormal 5th finger phalanx morphology def: "Abnormality of the phalanges of the 5th (little) finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Abnormality of the little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the phalanges of the 5th finger" EXACT [] synonym: "Abnormality of the pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025408 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0004214 name: Curved phalanges of the 5th finger def: "Curved phalanges of the 5th (little) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025407 is_a: HP:0004095 ! Curved fingers is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009770 ! Curved phalanges of the hand [Term] id: HP:0004216 name: Osteolytic defects of the phalanges of the 5th finger def: "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Lytic defects of the phalanges of the little finger" EXACT [] xref: UMLS:C4021677 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004218 name: Symphalangism of the 5th finger def: "Fusion of two or more bones of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fifth finger symphalangism" EXACT [] synonym: "Fused little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalagism of the little finger" EXACT [] xref: UMLS:C4021676 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004219 name: Abnormality of the middle phalanx of the 5th finger synonym: "Abnormality of the middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of the middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025406 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology [Term] id: HP:0004220 name: Short middle phalanx of the 5th finger alt_id: HP:0001243 alt_id: HP:0003069 alt_id: HP:0004221 alt_id: HP:0005649 alt_id: HP:0005706 alt_id: HP:0005734 alt_id: HP:0005813 def: "Hypoplastic/small middle phalanx of the fifth finger." [https://orcid.org/0000-0002-5316-1399, PMID:18494372] comment: Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). synonym: "5th finger middle phalangeal hypoplasia" EXACT [] synonym: "Brachymesophalangism V" EXACT [] synonym: "Brachymesophalangy V (finger)" EXACT [] synonym: "Fifth finger mid-phalanx hypoplasia" EXACT [] synonym: "Hypoplastic fifth finger middle phalanx" EXACT [] synonym: "Hypoplastic middle phalanx of the 5th finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 5th finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the little finger" EXACT [] synonym: "Short middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short middle phalanx of the little finger" EXACT [] synonym: "Type A3 brachydactyly" EXACT [] xref: UMLS:C1834060 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009237 ! Short 5th finger is_a: HP:0009370 ! Type A brachydactyly [Term] id: HP:0004222 name: Cone-shaped epiphysis of the distal phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped end part of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped end part of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of the distal phalanx of the little finger" EXACT [] xref: UMLS:C4021675 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand [Term] id: HP:0004223 name: Ivory epiphysis of the distal phalanx of the 5th finger alt_id: HP:0004229 def: "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density of end part of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density of end part of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ivory epiphysis of the distal phalanx of the little finger" EXACT [] synonym: "Ivory epiphysis of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021674 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand [Term] id: HP:0004224 name: Abnormality of the epiphysis of the middle phalanx of the 5th finger def: "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025405 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand [Term] id: HP:0004225 name: Abnormality of the distal phalanx of the 5th finger def: "Abnormality of the distal phalanx of the 5th (little) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the distal phalanx of the little finger" EXACT [] synonym: "Abnormality of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021673 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology [Term] id: HP:0004226 name: Curved distal phalanx of the 5th finger def: "Curved appearance of the distal phalanx of the 5th (little) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021672 is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009838 ! Curved distal phalanges of the hand [Term] id: HP:0004227 name: Short distal phalanx of the 5th finger alt_id: HP:0006171 def: "Hypoplastic/small distal phalanx of the fifth finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Brachytelophalangism V" EXACT [] synonym: "Fifth digit distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplastic/small terminal phalanx of the little finger" EXACT [] synonym: "Short distal phalanx of the fifth finger" EXACT [] synonym: "Short outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836674 is_a: HP:0009237 ! Short 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger is_a: HP:0009882 ! Short distal phalanx of finger [Term] id: HP:0004230 name: Subluxation of the proximal interphalangeal joint of the little finger def: "A partial dislocation of the proximal interphalangeal joint of the little finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Partially dislocated innermost hinge joint of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partially dislocated innermost hinge joint of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partially dislocated innermost hinge joint of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025404 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0004231 name: Carpal bone aplasia alt_id: HP:0005056 alt_id: HP:0006020 alt_id: HP:0006084 def: "Congenital absence of a carpal bone." [https://orcid.org/0000-0002-0736-9199] comment: Radiographically difficult to distinguish between absent ossification of a carpal bone. synonym: "Absent carpal bone" EXACT [] synonym: "Absent carpal bones" EXACT [] synonym: "Absent carpal ossification center" EXACT [] synonym: "Absent carpal ossification centre" EXACT uk_spelling [] synonym: "Absent wrist bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic carpal bone" EXACT [] synonym: "Missing wrist bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836219 xref: UMLS:C4280537 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0004232 name: Accessory carpal bones def: "The presence of more than the normal number of carpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Supernumerary carpal bones" EXACT [] xref: SNOMEDCT_US:20136007 xref: SNOMEDCT_US:9181003 xref: UMLS:C0265609 is_a: HP:0001191 ! Abnormal carpal morphology is_a: HP:0004275 ! Duplication of hand bones [Term] id: HP:0004233 name: Advanced ossification of carpal bones alt_id: HP:0006104 def: "Ossification of carpal bones at an abnormally early age." [https://orcid.org/0000-0002-0736-9199] synonym: "Accelerated carpal bone maturation" EXACT [] synonym: "Accelerated wrist bone maturation" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Advanced carpal bone age" EXACT [] synonym: "Advanced carpal ossification" EXACT [] synonym: "Precociously ossified carpal bones" EXACT [] xref: UMLS:C1849292 xref: UMLS:C4280536 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004234 name: Bone-in-a-bone appearance of carpal bones def: "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Bone-in-a-bone appearance of wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025403 is_a: HP:0009164 ! Abnormal calcification of the carpal bones is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004235 name: Comma-shaped carpal bones synonym: "Comma-shaped wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025402 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004236 name: Irregular carpal bones def: "Carpal bones with irregular or fragmented margins." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025401 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004237 name: Large carpal bones def: "Increased size of carpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Large carpals" EXACT [] synonym: "Large wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021671 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004238 name: Lytic defects of carpal bones xref: UMLS:C4025400 is_a: HP:0001495 ! Carpal osteolysis [Term] id: HP:0004239 name: Proximally placed carpal bones xref: UMLS:C4025399 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0004240 name: Sclerotic foci within carpal bones synonym: "Hardened spots within wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stiffened spots within wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025398 xref: UMLS:C4280535 is_a: HP:0004054 ! Sclerosis of hand bone is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004241 name: Stippled calcification in carpal bones alt_id: HP:0006177 def: "Point-shaped (punctate) calcifications affecting the carpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Punctate calcifications of carpals" EXACT [] xref: UMLS:C1844846 is_a: HP:0004054 ! Sclerosis of hand bone is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004242 name: Broad carpal bones synonym: "Wide carpal bones" EXACT [] synonym: "Wide wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3554618 is_a: HP:0004237 ! Large carpal bones [Term] id: HP:0004243 name: Abnormal scaphoid morphology def: "Any structural anomaly of the scaphoid. The scaphoid is the largest bone of the proximal row of carpal bones. It is located on the same side as the thumb." [] synonym: "Abnormality of the scaphoid" EXACT [] xref: UMLS:C4025397 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0004244 name: Accessory scaphoid def: "Variations in the development of carpal bones are uncommon, with the scaphoid bone typically forming from the fusion of the os centrale carpi and the radial chondrification center during embryogenesis. A bipartite scaphoid is a rare congenital disorder that occurs when these ossification centers fail to fuse." [PMID:39764661] synonym: "Bipartite scaphoid" EXACT [] xref: UMLS:C4025396 is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004243 ! Abnormal scaphoid morphology [Term] id: HP:0004245 name: Comma-shaped scaphoid xref: UMLS:C4025395 is_a: HP:0004235 ! Comma-shaped carpal bones is_a: HP:0004243 ! Abnormal scaphoid morphology [Term] id: HP:0004246 name: Delayed ossification of the scaphoid def: "Formation of bone tissue of scaphoid is less than expected for age." [https://orcid.org/0009-0006-4530-3154] synonym: "Delayed maturation of the scaphoid" EXACT [] xref: UMLS:C4021670 is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0045003 ! Abnormal ossification of the scaphoid [Term] id: HP:0004247 name: Small scaphoid def: "Underdevelopment of the scaphoid." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025394 is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004243 ! Abnormal scaphoid morphology [Term] id: HP:0004248 name: Abnormal lunate bone morphology def: "Any structural anomaly of the lunate bone, which is located in the proximal row of carpal bones." [] xref: UMLS:C4025393 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0004249 name: Accessory lunate xref: UMLS:C4025392 is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004248 ! Abnormal lunate bone morphology [Term] id: HP:0004250 name: Proximally placed lunate xref: UMLS:C4025391 is_a: HP:0004239 ! Proximally placed carpal bones is_a: HP:0004248 ! Abnormal lunate bone morphology [Term] id: HP:0004251 name: Lunate-triquetral fusion def: "Osseous fusion of the lunate and triquetrum." [PMID:23853014] comment: Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved. synonym: "Lunotriquetral synostosis" EXACT [] xref: UMLS:C1867930 is_a: HP:0004248 ! Abnormal lunate bone morphology [Term] id: HP:0004252 name: Abnormal trapezium morphology def: "An anomaly of the trapezium, which is the carpal bone located at the base of the thumb." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025390 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0004253 name: Absent trapezium synonym: "Absent trapezium bone" EXACT [] xref: UMLS:C1847190 is_a: HP:0004252 ! Abnormal trapezium morphology is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004254 name: Delayed ossification of the trapezium def: "Formation of bone tissue of trapezium is less than expected for age." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed maturation of the trapezium" EXACT [] xref: UMLS:C4021669 is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0045001 ! Abnormal ossification of the trapezium [Term] id: HP:0004255 name: Small trapezium def: "Underdevelopment of the trapezium." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025389 is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004252 ! Abnormal trapezium morphology [Term] id: HP:0004256 name: Abnormal trapezoid bone morphology def: "A structural anomaly of the trapezoid bone, which is the smallest bone in the distal row of carpal bones." [] synonym: "Abnormality of the trapezoid bone" EXACT [] xref: UMLS:C4025388 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0004257 name: Delayed ossification of the trapezoid bone def: "Formation of bone tissue of trapezoid is less than expected for age." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed maturation of the trapezoid bone" EXACT [] xref: UMLS:C4021668 is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0045004 ! Abnormal ossification of the trapezoid bone [Term] id: HP:0004258 name: Small trapezoid bone def: "Underdevelopment of the trapezoid." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025387 is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004256 ! Abnormal trapezoid bone morphology [Term] id: HP:0004259 name: Abnormal hamate bone morphology def: "A structural anomaly of the hamate bone, which is the ulnar-most bone located within the distal row of carpal bones, neighboured by the capitate bone radially." [PMID:39552736] synonym: "Abnormality of the hamate bone" EXACT [] xref: UMLS:C4025386 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0004260 name: Large hamate bone synonym: "Large unciform bone" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025385 is_a: HP:0004237 ! Large carpal bones is_a: HP:0004259 ! Abnormal hamate bone morphology [Term] id: HP:0004261 name: Wide hamate bone synonym: "Broad hamate bone" EXACT [] synonym: "Wide unciform bone" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021667 is_a: HP:0004242 ! Broad carpal bones is_a: HP:0004260 ! Large hamate bone [Term] id: HP:0004262 name: Abnormal capitate bone morphology def: "A structural anomaly of the capitate bone, which is the largest of the carpal bones in the human hand." [PMID:27524693] synonym: "Abnormality of the capitate bone" EXACT [] xref: UMLS:C4025384 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0004263 name: Large capitate bone xref: UMLS:C4025383 is_a: HP:0004237 ! Large carpal bones is_a: HP:0004262 ! Abnormal capitate bone morphology [Term] id: HP:0004264 name: Narrow carpal joint spaces alt_id: HP:0004265 synonym: "Decreased carpal joint angles" EXACT [] xref: UMLS:C4021666 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0004267 name: Narrow small joints of the hand synonym: "Narrow small joints of the hand" EXACT layperson [] xref: UMLS:C4025382 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0004268 name: Osteoarthritis of the small joints of the hand xref: UMLS:C4025381 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0004269 name: Subluxation of the small joints of the hand def: "A partial dislocation of some or all of the small joints of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial dislocation of small joints of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025380 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0004271 name: Cortical thickening of hand bones xref: UMLS:C4025379 is_a: HP:0005926 ! Abnormal hand cortical bone morphology is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0004272 name: Cortical thinning of hand bones xref: UMLS:C4025378 is_a: HP:0002753 ! Thin bony cortex is_a: HP:0005926 ! Abnormal hand cortical bone morphology [Term] id: HP:0004273 name: Cupped metaphyses of hand bones synonym: "Cupped metaphysis of hand bones" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Cupped wide portion of hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025377 is_a: HP:0005923 ! Abnormal hand metaphysis morphology [Term] id: HP:0004274 name: Deficient ossification of hand bones synonym: "Deficient maturation of hand bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025376 xref: UMLS:C4280534 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004275 name: Duplication of hand bones synonym: "Duplication of hand bones" EXACT layperson [] xref: UMLS:C3276746 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0009142 ! Duplication of bones involving the upper extremities [Term] id: HP:0004276 name: Exostoses of hand bones def: "Abnormal formation of new bone on the surface of a bone of the hand." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025375 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0004277 name: Fractured hand bones alt_id: HP:0041232 synonym: "Broken hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fractured hand bones" EXACT layperson [] xref: SNOMEDCT_US:20511007 xref: UMLS:C0435632 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0020110 ! Bone fracture [Term] id: HP:0004278 name: Synostosis involving bones of the hand def: "An abnormal union between bones or parts of bones of the hand." [https://orcid.org/0009-0006-4530-3154] synonym: "Fused hand bones" RELATED layperson [] xref: UMLS:C4020831 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0004279 name: Short palm alt_id: HP:0001165 def: "Short palm." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short. synonym: "Hypoplastic hands" RELATED [] synonym: "Short hands" RELATED layperson [] synonym: "Short palm" EXACT layperson [] synonym: "Short palms" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1843108 is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand is_a: HP:0100871 ! Abnormal palm morphology [Term] id: HP:0004280 name: Irregular ossification of hand bones synonym: "Irregular maturation of hand bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025374 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004281 name: Irregular sclerosis of hand bones xref: UMLS:C4025373 is_a: HP:0004054 ! Sclerosis of hand bone [Term] id: HP:0004283 name: Narrow palm def: "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length." [PMID:19125433] comment: Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not. synonym: "Narrow hand" EXACT [] synonym: "Narrow hands" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Narrow palm" EXACT layperson [] xref: UMLS:C1857632 is_a: HP:0100871 ! Abnormal palm morphology [Term] id: HP:0004284 name: Notched hand bones synonym: "Notched hand bones" EXACT layperson [] xref: UMLS:C4025372 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004285 name: Overmodelled hand bones xref: UMLS:C4025371 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004286 name: Patchy sclerosis of hand bones synonym: "Uneven increase in bone density in hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025370 is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004287 name: Pointed hand bones synonym: "Pointed hand bones" EXACT layperson [] xref: UMLS:C4025369 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004288 name: Pseudoepiphyses of hand bones xref: UMLS:C4025368 is_a: HP:0005924 ! Abnormal hand epiphysis morphology is_a: HP:0010584 ! Pseudoepiphyses [Term] id: HP:0004289 name: Sclerotic foci in hand bones xref: UMLS:C4025367 is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004290 name: Sclerosis of hand bones with transverse striations xref: UMLS:C4025366 is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004291 name: Stippled calcification of hand bones xref: UMLS:C4025365 is_a: HP:0004280 ! Irregular ossification of hand bones [Term] id: HP:0004292 name: Undermodelled hand bones xref: UMLS:C4025364 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004293 name: Synostosis of second metacarpal-trapezoid def: "Fusion of the second metacarpal-trapezoid." [https://orcid.org/0000-0002-0736-9199] synonym: "Fusion of second metacarpal-trapezoid" EXACT [] xref: UMLS:C4021665 is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal is_a: HP:0100328 ! Carpometacarpal synostosis [Term] id: HP:0004294 name: Subluxation of metacarpal phalangeal joints def: "A partial dislocation affecting some or all of the metacarpophalangeal joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial knuckle dislocation" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Subluxation of metacarpophalangeal joints" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025363 is_a: HP:0011911 ! Abnormal metacarpophalangeal joint morphology is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0004295 name: Abnormal gastric mucosa morphology def: "An abnormality of the gastric mucous membrane." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the gastric mucosa" EXACT [] synonym: "Abnormality of the mucous membrane layer of stomach" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025362 is_a: HP:0002577 ! Abnormal stomach morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:12:00Z [Term] id: HP:0004296 name: Abnormal gastrointestinal vascular morphology synonym: "Abnormality of gastrointestinal vasculature" EXACT [] synonym: "Abnormality of GI blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of GI vasculature" EXACT abbreviation [] xref: UMLS:C4025361 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology is_a: HP:0025015 ! Abnormal vascular morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:24:00Z [Term] id: HP:0004297 name: Abnormality of the biliary system def: "An abnormality of the biliary system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0940767 is_a: HP:0001392 ! Abnormality of the liver property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:34:00Z [Term] id: HP:0004298 name: Abnormality of the abdominal wall alt_id: HP:0001462 def: "The presence of any abnormality affecting the abdominal wall." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of external features of the abdomen" EXACT [] synonym: "Abnormality of the abdominal wall" EXACT layperson [] xref: UMLS:C4021664 is_a: HP:0025031 ! Abnormality of the digestive system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:40:00Z [Term] id: HP:0004299 name: Hernia of the abdominal wall def: "The presence of a hernia in the abdominal wall." [https://orcid.org/0000-0002-0736-9199] comment: A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. subset: hposlim_core synonym: "Herniated abdominal wall" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4414 xref: SNOMEDCT_US:128545000 xref: UMLS:C1442978 is_a: HP:0010866 ! Abdominal wall defect is_a: HP:0100790 ! Hernia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:42:00Z [Term] id: HP:0004302 name: Functional motor deficit synonym: "Functional motor problems" EXACT [] xref: UMLS:C4025360 is_a: HP:0011804 ! Abnormal muscle physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:52:00Z [Term] id: HP:0004303 name: Abnormal muscle fiber morphology alt_id: HP:0003706 alt_id: HP:0011806 def: "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers." [https://orcid.org/0000-0002-0736-9199, PMID:22938878] comment: Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products. synonym: "Abnormal muscle fibre morphology" EXACT uk_spelling [] synonym: "Abnormal skeletal muscle fiber morphology" EXACT [] synonym: "Abnormal skeletal muscle fibre morphology" EXACT uk_spelling [] synonym: "Abnormality of muscle fibers" EXACT [] synonym: "Abnormality of muscle fibres" EXACT uk_spelling [] xref: UMLS:C4021663 is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T12:04:00Z [Term] id: HP:0004305 name: Involuntary movements alt_id: HP:0007120 def: "Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face." [https://orcid.org/0000-0002-0736-9199] synonym: "Involuntary movements" EXACT layperson [] synonym: "Involuntary muscle contractions" EXACT layperson [] xref: SNOMEDCT_US:102542000 xref: UMLS:C0235086 is_a: HP:0011442 ! Abnormal central motor function is_a: HP:0100022 ! Abnormality of movement property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T12:18:00Z [Term] id: HP:0004306 name: Abnormal endocardium morphology alt_id: HP:0005260 def: "An abnormality of the endocardium." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the endocardium" EXACT [] synonym: "Abnormality of the endomycoardium" EXACT [] xref: UMLS:C4021662 is_a: HP:0001627 ! Abnormal heart morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004307 name: Abnormal anatomic location of the heart def: "Developmental defect characterized by an anomalous anatomic location of the heart." [] xref: UMLS:C4025359 is_a: HP:0001627 ! Abnormal heart morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004308 name: Ventricular arrhythmia synonym: "Ventricular arrhythmias" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:44103008 xref: UMLS:C0085612 is_a: HP:0011675 ! Arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T01:28:00Z [Term] id: HP:0004309 name: Ventricular preexcitation alt_id: HP:0006676 def: "An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway." [https://orcid.org/0000-0002-0736-9199] comment: Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node. synonym: "Pre-excitation syndrome" EXACT [] synonym: "Preexcitation" EXACT [] synonym: "Ventricular pre-excitation" EXACT [] xref: SNOMEDCT_US:195060002 xref: UMLS:C0559106 is_a: HP:0004308 ! Ventricular arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T01:29:00Z [Term] id: HP:0004311 name: Abnormal macrophage morphology alt_id: HP:0004310 def: "An abnormality of macrophages." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of histiocytes" EXACT [] synonym: "Abnormality of macrophages" EXACT [] xref: UMLS:C4021661 is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T03:14:00Z [Term] id: HP:0004312 name: Abnormal reticulocyte morphology def: "A reticulocyte abnormality." [https://orcid.org/0000-0002-0736-9199] comment: Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining. synonym: "Abnormality of reticulocytes" EXACT [] xref: UMLS:C4025358 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T03:19:00Z [Term] id: HP:0004313 name: Decreased circulating immunoglobulin concentration alt_id: HP:0010703 def: "An abnormally decreased level of immunoglobulin in blood." [https://orcid.org/0000-0002-0736-9199] comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. synonym: "Decreased antibody level in blood" EXACT [] synonym: "Decreased circulating antibody level" EXACT layperson [] synonym: "Decreased immunoglobulin level" EXACT [] synonym: "Decreased serum immunoglobulin" EXACT [] synonym: "Hypogammaglobulinemia" EXACT [] synonym: "Immunoglobulin deficiency" EXACT [] synonym: "Reduced immunoglobulin levels" EXACT [] xref: SNOMEDCT_US:119250001 xref: UMLS:C0086438 xref: UMLS:C4048270 is_a: HP:0010701 ! Abnormal circulating immunoglobulin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T03:34:00Z [Term] id: HP:0004315 name: Decreased circulating IgG concentration alt_id: HP:0003289 alt_id: HP:0003294 alt_id: HP:0005394 alt_id: HP:0008325 alt_id: HP:0008340 def: "An abnormally decreased level of immunoglobulin G (IgG) in blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased circulating IgG level" EXACT [] synonym: "Decreased gamma-globin expression" EXACT [] synonym: "Decreased IgG level" EXACT [] synonym: "Decreased IgG level in blood" EXACT [] synonym: "Decreased immunoglobulin G" EXACT [] synonym: "Decreased serum IgG" EXACT [] synonym: "IgG deficiency" EXACT [] synonym: "Reduced IgG levels" EXACT [] xref: SNOMEDCT_US:123785006 xref: SNOMEDCT_US:190981001 xref: UMLS:C0162539 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration is_a: HP:0410242 ! Abnormal circulating IgG concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T03:43:00Z [Term] id: HP:0004319 name: Decreased circulating aldosterone concentration alt_id: HP:0000355 alt_id: HP:0002924 alt_id: HP:0008184 alt_id: HP:0008190 def: "Abnormally reduced levels of aldosterone." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] comment: Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. synonym: "Decreased aldosterone" EXACT [] synonym: "Decreased aldosterone production" EXACT [] synonym: "Decreased serum aldosterone" EXACT [] synonym: "Hypoaldosteronism" EXACT [] synonym: "Low blood aldosterone level" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Mineralocorticoid insufficiency" EXACT [] xref: SNOMEDCT_US:60086000 xref: UMLS:C0020595 xref: UMLS:C0857899 xref: UMLS:C1846226 is_a: HP:0040085 ! Abnormal circulating aldosterone concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T10:45:00Z [Term] id: HP:0004320 name: Vaginal fistula def: "The presence of a fistula of the vagina." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:45135002 xref: UMLS:C0042253 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0100589 ! Urogenital fistula property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T12:17:00Z [Term] id: HP:0004321 name: Bladder fistula def: "The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:68666001 xref: UMLS:C0005690 is_a: HP:0025487 ! Abnormal bladder morphology is_a: HP:0100589 ! Urogenital fistula property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T12:32:00Z [Term] id: HP:0004322 name: Short stature alt_id: HP:0001509 alt_id: HP:0003501 alt_id: HP:0003507 alt_id: HP:0003512 alt_id: HP:0003518 alt_id: HP:0003519 alt_id: HP:0008871 alt_id: HP:0008882 alt_id: HP:0008888 alt_id: HP:0008913 def: "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased body height" EXACT layperson [] synonym: "Height less than 3rd percentile" EXACT [] synonym: "Short stature" EXACT layperson [] synonym: "Small stature" EXACT layperson [] synonym: "Stature below 3rd percentile" EXACT [] xref: SNOMEDCT_US:237836003 xref: UMLS:C0349588 is_a: HP:0000002 ! Abnormality of body height is_a: HP:0001510 ! Growth delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:19:00Z [Term] id: HP:0004323 name: Abnormality of body weight alt_id: HP:0010718 def: "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of body weight" EXACT layperson [] synonym: "Abnormality of habitus" RELATED [] xref: UMLS:C0878621 xref: UMLS:C4025357 is_a: HP:0001507 ! Growth abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004324 name: Increased body weight alt_id: HP:0045083 def: "Abnormally increased body weight." [] synonym: "Increased body weight" EXACT layperson [] synonym: "Weight gain" RELATED layperson [] xref: SNOMEDCT_US:161831008 xref: SNOMEDCT_US:262286000 xref: SNOMEDCT_US:8943002 xref: UMLS:C0043094 is_a: HP:0004323 ! Abnormality of body weight property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004325 name: Decreased body weight alt_id: HP:0001823 alt_id: HP:0001826 def: "Abnormally low body weight." [] synonym: "Decreased body weight" EXACT layperson [] synonym: "Decreased weight" EXACT layperson [] synonym: "Low body weight" EXACT layperson [] synonym: "Low weight" EXACT layperson [] synonym: "Weight less than 3rd percentile" EXACT layperson [] xref: SNOMEDCT_US:161832001 xref: SNOMEDCT_US:248342006 xref: SNOMEDCT_US:262285001 xref: SNOMEDCT_US:89362005 xref: UMLS:C0041667 xref: UMLS:C1262477 xref: UMLS:C1844806 is_a: HP:0004323 ! Abnormality of body weight property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:22:00Z [Term] id: HP:0004326 name: Cachexia def: "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease." [https://orcid.org/0000-0002-0736-9199] synonym: "Wasting syndrome" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:238108007 xref: SNOMEDCT_US:285384003 xref: UMLS:C0006625 is_a: HP:0001824 ! Weight loss property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T03:23:00Z [Term] id: HP:0004327 name: Abnormal vitreous humor morphology def: "Any structural anomaly of the vitreous body." [https://orcid.org/0000-0002-0736-9199] comment: The vitreous humor is the clear gel that fills the space between the lens and the retina. subset: hposlim_core synonym: "Abnormal vitreous humour morphology" EXACT uk_spelling [] xref: UMLS:C4025356 is_a: HP:0004329 ! Abnormal posterior eye segment morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T04:20:00Z [Term] id: HP:0004328 name: Abnormal anterior eye segment morphology def: "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens)." [https://orcid.org/0000-0002-0736-9199] comment: The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens. synonym: "Abnormal anterior segment morphology" EXACT [] synonym: "Abnormality of the anterior segment of the eye" EXACT [] synonym: "Abnormality of the anterior segment of the eyeball" EXACT [] synonym: "Abnormality of the anterior segment of the globe" EXACT [] xref: UMLS:C4025355 is_a: HP:0012372 ! Abnormal eye morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T04:23:00Z [Term] id: HP:0004329 name: Abnormal posterior eye segment morphology comment: The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. synonym: "Abnormal morphology of the posterior segment of the globe" EXACT [] synonym: "Abnormality of the posterior segment of the eye" EXACT [] synonym: "Abnormality of the posterior segment of the eyeball" EXACT [] synonym: "Abnormality of the posterior segment of the globe" EXACT [] xref: UMLS:C4025354 is_a: HP:0012372 ! Abnormal eye morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T04:25:00Z [Term] id: HP:0004330 name: Increased skull ossification def: "An increase in the magnitude or amount of ossification of the skull." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hyperossification of skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased calcification of skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased Mineralization of skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Sclerosis of bones of skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Sclerosis of skull" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:17401000119104 xref: UMLS:C0020496 xref: UMLS:C4072850 xref: UMLS:C4072851 is_a: HP:0002703 ! Abnormality of skull ossification is_a: HP:0011001 ! Increased bone mineral density property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004331 name: Decreased skull ossification alt_id: HP:0003780 def: "A reduction in the magnitude or amount of ossification of the skull." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased bone formation of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Decreased calcification of skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased mineralization of skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficient skull ossification" EXACT [] synonym: "Hypoossification of skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Ossification defect of skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Poorly mineralized skull" EXACT [] synonym: "Poorly ossified skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Poorly ossified skull bones" EXACT [] xref: SNOMEDCT_US:253980008 xref: UMLS:C0432073 xref: UMLS:C4280533 is_a: HP:0002703 ! Abnormality of skull ossification is_a: HP:0011849 ! Abnormal bone ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004332 name: Abnormal lymphocyte morphology alt_id: HP:0001887 alt_id: HP:0012140 def: "An abnormality of lymphocytes." [https://orcid.org/0000-0002-0736-9199] comment: A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. synonym: "Abnormal lymphocytes" EXACT [] synonym: "Abnormality of cells of the lymphoid lineage" EXACT [] xref: SNOMEDCT_US:250284007 xref: UMLS:C0427546 is_a: HP:0001881 ! Abnormal leukocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-28T06:46:00Z [Term] id: HP:0004333 name: Bone-marrow foam cells alt_id: HP:0001979 def: "The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Bone marrow foam cells" EXACT [] synonym: "Large vacuolated foam cells ('NP cells') on bone marrow biopsy" EXACT [] synonym: "Large vacuolated foam cells on bone marrow biopsy" EXACT [] xref: UMLS:C1856560 is_a: HP:0003651 ! Foam cells is_a: HP:0004311 ! Abnormal macrophage morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-28T06:48:00Z [Term] id: HP:0004334 name: Dermal atrophy alt_id: HP:0000985 alt_id: HP:0001077 def: "Partial or complete wasting (atrophy) of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Atrophic skin" EXACT [] synonym: "Skin atrophy" EXACT [] synonym: "Skin degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10040799 "Skin atrophy" xref: SNOMEDCT_US:399979006 xref: SNOMEDCT_US:400190005 xref: UMLS:C0151514 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-04T06:24:00Z [Term] id: HP:0004336 name: Myelin outfoldings alt_id: HP:0003433 alt_id: HP:0006898 alt_id: HP:0007290 def: "The presence of excessive redundant myelin in the peripheral nerve sheath." [https://orcid.org/0000-0002-0736-9199, PMID:10932274] comment: This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy). synonym: "Excessive focal folding of myelin sheaths" EXACT [] synonym: "Irregular myelin foldings" EXACT [] xref: UMLS:C1843168 is_a: HP:0030173 ! Peripheral hypermyelination property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-04T06:41:00Z [Term] id: HP:0004337 name: Abnormality of amino acid metabolism def: "Abnormality of an amino acid metabolic process." [https://orcid.org/0000-0002-0736-9199] synonym: "Amino acid levels abnormal" RELATED [] xref: UMLS:C1328440 is_a: HP:0032245 ! Abnormal metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T07:53:00Z [Term] id: HP:0004338 name: Abnormal circulating aromatic amino acid concentration def: "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of aromatic amino acid family metabolism" EXACT [] xref: UMLS:C4025352 is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T07:55:00Z [Term] id: HP:0004339 name: Abnormal circulating sulfur amino acid concentration def: "Any deviation from the normal concentration of a sulfur amino acid in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] comment: Cysteine and methionine contain a sulfur atom. synonym: "Abnormal circulating sulphur amino acid concentration" EXACT uk_spelling [] synonym: "Abnormality of sulfur-containing amino acids" EXACT [] xref: UMLS:C4021660 is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T08:01:00Z [Term] id: HP:0004340 name: Abnormality of vitamin B metabolism synonym: "Abnormality of B-vitamin metabolism" EXACT [] xref: UMLS:C4021659 is_a: HP:0100508 ! Abnormality of vitamin metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T08:08:00Z [Term] id: HP:0004341 name: Abnormality of vitamin B12 metabolism synonym: "Abnormality of the vitamin B12 metabolism" EXACT [] xref: UMLS:C4021658 is_a: HP:0004340 ! Abnormality of vitamin B metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T08:09:00Z [Term] id: HP:0004342 name: Abnormal galactosidase enyzme activity def: "Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose." [HPO_CONTRIBUTOR:gcarletti] synonym: "Abnormality of galactoside metabolism" EXACT [] xref: UMLS:C4025351 is_a: HP:0003649 ! Abnormal glycosidase enzyme activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T08:33:00Z [Term] id: HP:0004343 name: Abnormal glycosphingolipid metabolism def: "An abnormality of glycosphingolipid metabolism." [https://orcid.org/0000-0002-0736-9199] comment: Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. synonym: "Abnormality of glycosphingolipid metabolism" EXACT [] xref: UMLS:C4025350 is_a: HP:0010969 ! Abnormality of glycolipid metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T08:35:00Z [Term] id: HP:0004344 name: Abnormality of cerebrosidase metabolism xref: UMLS:C4025349 is_a: HP:0004343 ! Abnormal glycosphingolipid metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-08T08:36:00Z [Term] id: HP:0004345 name: Ganglioside accumulation def: "Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease)." [https://orcid.org/0000-0002-0736-9199, PMID:21937853] comment: A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain. xref: UMLS:C4025348 is_a: HP:0004343 ! Abnormal glycosphingolipid metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-11T07:50:00Z [Term] id: HP:0004347 name: Weakness of muscles of respiration def: "Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025347 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002795 ! Abnormal respiratory system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-11T08:03:00Z [Term] id: HP:0004348 name: Abnormality of bone mineral density def: "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of bone mineralisation and ossification" EXACT [] xref: UMLS:C4021657 is_a: HP:0011849 ! Abnormal bone ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004349 name: Reduced bone mineral density def: "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [https://orcid.org/0009-0006-4530-3154] synonym: "Decreased bone mineral density" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Decreased bone mineral density Z score" EXACT [] synonym: "Low solidness and mass of the bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C2674432 is_a: HP:0004348 ! Abnormality of bone mineral density property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004352 name: Abnormal circulating purine concentration def: "Any deviation from the normal concentration of a purine in the blood circulation." [] comment: Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine. synonym: "Abnormal circulating purine level" EXACT [] xref: UMLS:C4025346 is_a: HP:0010932 ! Abnormal circulating nucleobase concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T01:04:00Z [Term] id: HP:0004353 name: Abnormal circulating pyrimidine concentration def: "Any deviation from the normal concentration of a pyrimidine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025345 is_a: HP:0010932 ! Abnormal circulating nucleobase concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T01:05:00Z [Term] id: HP:0004354 name: Abnormal circulating carboxylic acid concentration def: "Any deviation from the normal concentration of a carboxylic acid in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] comment: Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). xref: UMLS:C4025344 is_a: HP:0430071 ! Abnormal circulating organic compound concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T01:11:00Z [Term] id: HP:0004355 name: obsolete Abnormality of proteoglycan metabolism is_obsolete: true replaced_by: HP:0001939 creation_date: 2008-03-17T01:12:00Z [Term] id: HP:0004356 name: Abnormality of lysosomal metabolism comment: A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors. xref: UMLS:C4025342 is_a: HP:0011017 ! Abnormal cellular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T02:40:00Z [Term] id: HP:0004357 name: Abnormal circulating leucine concentration def: "Any deviation from the normal circulation of leucine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025341 is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T03:02:00Z [Term] id: HP:0004358 name: Abnormality of superoxide metabolism comment: NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. xref: UMLS:C4025340 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T03:22:00Z [Term] id: HP:0004359 name: Abnormal circulating fatty-acid concentration def: "A deviation from the normal concentration of a fatty acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids. synonym: "Abnormality of fatty acid metabolism" EXACT [] synonym: "Fatty acids abnormal" RELATED [] xref: UMLS:C4020830 xref: UMLS:C4021656 is_a: HP:0003119 ! Abnormal circulating lipid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T03:28:00Z [Term] id: HP:0004360 name: Abnormality of acid-base homeostasis def: "An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH." [https://orcid.org/0000-0002-0736-9199] synonym: "Acid base imbalance" RELATED [] xref: UMLS:C0001118 is_a: HP:0012337 ! Abnormal homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T03:35:00Z [Term] id: HP:0004361 name: Abnormal circulating leptin concentration def: "An abnormal concentration of leptin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of circulating leptin level" EXACT [] xref: UMLS:C4025339 is_a: HP:0003117 ! Abnormal circulating hormone concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T03:37:00Z [Term] id: HP:0004362 name: Abnormal enteric ganglion morphology alt_id: HP:0002596 alt_id: HP:0003283 def: "An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of enteric ganglion morphology" EXACT [] synonym: "Abnormality of the enteric ganglia" RELATED [] xref: UMLS:C4025338 is_a: HP:0025028 ! Abnormal enteric nervous system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T03:40:00Z [Term] id: HP:0004363 name: Abnormal circulating calcium concentration alt_id: HP:0040077 def: "Any deviation from the normal concentration of calcium in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood calcium concentration" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal blood calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal circulating Ca concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal circulating Ca2+ concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] is_a: HP:0010927 ! Abnormal blood inorganic cation concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T04:15:00Z [Term] id: HP:0004364 name: Abnormal circulating nitrogen compound concentration def: "Any deviation from the normal concentration of a nitrogen compound in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] comment: Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. xref: UMLS:C4025336 is_a: HP:0430071 ! Abnormal circulating organic compound concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T04:51:00Z [Term] id: HP:0004365 name: Abnormal circulating tryptophan concentration def: "Any deviation from the normal concentration of tryptophan in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of tryptophan metabolism" EXACT [] xref: UMLS:C4025335 is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T04:55:00Z [Term] id: HP:0004366 name: obsolete Abnormality of glycolysis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0011013 creation_date: 2008-03-17T05:00:00Z [Term] id: HP:0004367 name: obsolete Abnormality of glycoprotein metabolism is_obsolete: true replaced_by: HP:0001939 [Term] id: HP:0004368 name: Increased circulating purine concentration def: "Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring." [] synonym: "Increased purine level" EXACT [] synonym: "Increased purine levels" EXACT layperson [] xref: UMLS:C4025332 is_a: HP:0004352 ! Abnormal circulating purine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T06:31:00Z [Term] id: HP:0004369 name: Decreased circulating purine concentration def: "Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring." [] synonym: "Decreased purine level" EXACT [] synonym: "Decreased purine levels" EXACT layperson [] xref: UMLS:C4025331 is_a: HP:0004352 ! Abnormal circulating purine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T06:32:00Z [Term] id: HP:0004370 name: Abnormality of temperature regulation def: "An abnormality of temperature homeostasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of temperature regulation" EXACT layperson [] synonym: "Body temperature changes" RELATED layperson [] synonym: "Impaired temperature control" EXACT [] synonym: "Impaired temperature regulation" EXACT [] synonym: "Inability to control temperature" EXACT [] synonym: "Inability to regulate temperature" EXACT [] synonym: "Poor control of temperature" EXACT [] synonym: "Poor regulation of temperature" EXACT [] synonym: "Poor temperature control" EXACT [] synonym: "Poor temperature regulation" EXACT layperson [] synonym: "Unable to control temperature" EXACT [] xref: UMLS:C0005904 xref: UMLS:C1832160 is_a: HP:0012337 ! Abnormal homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T06:34:00Z [Term] id: HP:0004371 name: Abnormality of glycosaminoglycan metabolism def: "Abnormality of glycosaminoglycan metabolism." [https://orcid.org/0000-0002-0736-9199] comment: A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan. xref: UMLS:C4025330 is_a: HP:0011017 ! Abnormal cellular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T06:36:00Z [Term] id: HP:0004372 name: Reduced consciousness def: "Abnormally diminished level of attention, responsiveness, or wakefulness." [] synonym: "Disturbances of consciousness" EXACT layperson [] synonym: "Lowered consciousness" EXACT layperson [] synonym: "Reduced consciousness/confusion" EXACT layperson [] xref: SNOMEDCT_US:3006004 xref: UMLS:C0234428 is_a: HP:0011446 ! Abnormality of mental function property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T07:12:00Z [Term] id: HP:0004373 name: Focal dystonia alt_id: HP:0007140 def: "A type of dystonia that is localized to a specific part of the body." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:445006008 xref: UMLS:C0743332 is_a: HP:0001332 ! Dystonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T07:33:00Z [Term] id: HP:0004374 name: Hemiplegia/hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [https://orcid.org/0000-0002-0736-9199] synonym: "Paralysis or weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C0375206 is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T07:35:00Z [Term] id: HP:0004375 name: Neoplasm of the nervous system def: "A tumor (abnormal growth of tissue) of the nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Neoplasia of the nervous system" RELATED [] synonym: "Nervous system cancer" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Tumor of the nervous system" EXACT layperson [https://orcid.org/0009-0006-4530-3154] synonym: "Tumour of the nervous system" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126950007 xref: UMLS:C0027766 is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0012639 ! Abnormal nervous system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T07:38:00Z [Term] id: HP:0004376 name: Neuroblastic tumor def: "A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma." [PMID:27823645] comment: Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. synonym: "Neuroblastic tumour" EXACT uk_spelling [] xref: UMLS:C1334953 is_a: HP:0100836 ! Malignant neoplasm of the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T07:39:00Z [Term] id: HP:0004377 name: Hematological neoplasm def: "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)." [http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms] synonym: "Blood tumor" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Blood tumour" BROAD uk_spelling [] synonym: "Haematological neoplasm" EXACT uk_spelling [] xref: SNOMEDCT_US:129154003 xref: SNOMEDCT_US:269475001 xref: UMLS:C0376545 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0011793 ! Neoplasm by anatomical site property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T07:44:00Z [Term] id: HP:0004378 name: Abnormality of the anus def: "Abnormality of the anal canal." [https://orcid.org/0000-0002-0736-9199] comment: The anal canal is continuous proximally with the rectum and distally terminates with the anus. synonym: "Abnormality of the anus" EXACT layperson [] xref: UMLS:C4025329 is_a: HP:0025031 ! Abnormality of the digestive system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T08:11:00Z [Term] id: HP:0004379 name: Abnormality of alkaline phosphatase level def: "An abnormality of alkaline phosphatase level." [https://orcid.org/0000-0002-0736-9199] comment: Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease. synonym: "Abnormality of alkaline phosphatase activity" EXACT [] synonym: "Abnormality of ALP level" EXACT abbreviation [] synonym: "Alkaline phosphatase abnormal" RELATED [] xref: UMLS:C4020829 xref: UMLS:C4025328 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T08:13:00Z [Term] id: HP:0004380 name: Aortic valve calcification alt_id: HP:0004759 alt_id: HP:0005173 def: "Deposition of calcium salts in the aortic valve." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:250978003 xref: UMLS:C0428791 is_a: HP:0001646 ! Abnormal aortic valve morphology is_a: HP:0005146 ! Cardiac valve calcification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T08:52:00Z [Term] id: HP:0004381 name: Supravalvular aortic stenosis def: "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:1430 xref: SNOMEDCT_US:268185002 xref: UMLS:C0003499 is_a: HP:0031652 ! Abnormal aortic valve physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T08:54:00Z [Term] id: HP:0004382 name: Mitral valve calcification alt_id: HP:0005149 alt_id: HP:0200129 def: "Abnormal calcification of the mitral valve." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:473372009 xref: UMLS:C0919718 is_a: HP:0001633 ! Abnormal mitral valve morphology is_a: HP:0005146 ! Cardiac valve calcification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T08:55:00Z [Term] id: HP:0004383 name: Hypoplastic left heart def: "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta." [https://orcid.org/0000-0002-0736-9199, PMID:22192721] comment: Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes. synonym: "Heart left ventricle hypoplasia" EXACT [] synonym: "Left ventricular hypoplasia" EXACT [] synonym: "Underdeveloped left heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:62067003 xref: UMLS:C0152101 is_a: HP:0001961 ! Hypoplastic heart is_a: HP:0045017 ! Congenital malformation of the left heart property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T08:56:00Z [Term] id: HP:0004384 name: Type I truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type I" EXACT [] synonym: "Type 1 truncus arteriosus" EXACT [] xref: Fyler:0510 xref: Fyler:510 xref: UMLS:C1834934 is_a: HP:0001660 ! Truncus arteriosus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T08:57:00Z [Term] id: HP:0004385 name: Protracted diarrhea synonym: "Protracted diarrhoea" EXACT uk_spelling [] xref: SNOMEDCT_US:236077008 xref: UMLS:C0473133 is_a: HP:0002014 ! Diarrhea property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:00:00Z [Term] id: HP:0004386 name: Gastrointestinal inflammation def: "Inflammation of the alimentary part of the gastrointestinal system." [] synonym: "Gastrointestinal inflammation" EXACT layperson [] synonym: "GI inflammation" EXACT abbreviation [] xref: UMLS:C1535950 is_a: HP:0012649 ! Increased inflammatory response is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:01:00Z [Term] id: HP:0004387 name: Enterocolitis def: "An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine)." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:43752006 xref: UMLS:C0014356 is_a: HP:0002583 ! Colitis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004388 name: Microcolon def: "A colon of abnormally small caliber." [PMID:3484569] synonym: "Microcolon on contrast enema" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:18389004 xref: UMLS:C0266200 xref: UMLS:C3553395 is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004389 name: Intestinal pseudo-obstruction def: "A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded." [https://orcid.org/0000-0002-0736-9199] synonym: "Intestinal pseudoobstruction" EXACT [] xref: SNOMEDCT_US:235825006 xref: SNOMEDCT_US:715201005 xref: UMLS:C0021847 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0002579 ! Gastrointestinal dysmotility property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:03:00Z [Term] id: HP:0004390 name: Hamartomatous polyposis def: "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture." [https://orcid.org/0009-0006-4530-3154, PMID:17768394] comment: Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps. synonym: "Gastrointestinal hamartoma" EXACT [] synonym: "Gastrointestinal hamartomatous polyps" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Hamartomatous polyps" EXACT [] xref: SNOMEDCT_US:27391005 xref: UMLS:C0334092 xref: UMLS:C3277418 is_a: HP:0005266 ! Intestinal polyp is_a: HP:0010566 ! Hamartoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:04:00Z [Term] id: HP:0004392 name: Prune belly def: "A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants." [https://orcid.org/0000-0002-0736-9199] comment: Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles. synonym: "Prune belly" EXACT layperson [] xref: SNOMEDCT_US:5187006 xref: UMLS:C0033770 is_a: HP:0004298 ! Abnormality of the abdominal wall property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:08:00Z [Term] id: HP:0004394 name: Multiple gastric polyps xref: SNOMEDCT_US:78809005 xref: SNOMEDCT_US:87252009 xref: UMLS:C0236048 is_a: HP:0006753 ! Neoplasm of the stomach property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:11:00Z [Term] id: HP:0004395 name: Malnutrition def: "A deficiency in the intake of energy and nutrients." [] synonym: "Malnutrition" EXACT layperson [] xref: SNOMEDCT_US:248325000 xref: SNOMEDCT_US:2492009 xref: SNOMEDCT_US:47563007 xref: SNOMEDCT_US:65404009 xref: SNOMEDCT_US:70241007 xref: UMLS:C0162429 is_a: HP:0011458 ! Abdominal symptom property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004396 name: Poor appetite def: "A reduced desire to eat." [] synonym: "Decreased appetite" EXACT layperson [] synonym: "Loss of appetite" EXACT [] synonym: "No appetite" RELATED layperson [] synonym: "Poor appetite" EXACT layperson [] xref: SNOMEDCT_US:64379006 xref: UMLS:C0232462 is_a: HP:0011458 ! Abdominal symptom property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004397 name: Ectopic anus def: "Abnormal displacement or malposition of the anus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal anus position" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Anus malposition" EXACT [] xref: SNOMEDCT_US:5153001 xref: UMLS:C0266231 is_a: HP:0034915 ! Abnormal anus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:13:00Z [Term] id: HP:0004398 name: Peptic ulcer def: "The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers." [https://orcid.org/0000-0002-0736-9199, PMID:28242110] comment: Symptoms of peptic ulcer disease have limited predictive value because they are non-specific. Patients with duodenal ulcers typically feel hungry or have nocturnal abdominal pain. By contrast, patients with gastric ulcers have postprandial abdominal pain, nausea, vomiting, and weight loss. Patients with untreated peptic ulcer disease typically have relapsing symptoms because of spontaneous healing and relapse while the causal factor (eg, H pylori infection or NSAID use) persists. synonym: "Sore in the lining of gastrointestinal tract" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:13200003 xref: UMLS:C0030920 is_a: HP:0034274 ! Gastrointestinal ulcer property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:14:00Z [Term] id: HP:0004399 name: Congenital pyloric atresia def: "Congenital atresia of the pylorus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C4025327 is_a: HP:0004400 ! Abnormality of the pylorus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004400 name: Abnormality of the pylorus def: "An abnormality of the pylorus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025326 is_a: HP:0002577 ! Abnormal stomach morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004401 name: Meconium ileus alt_id: HP:0002610 alt_id: HP:0004402 def: "Obstruction of the intestine due to abnormally thick meconium." [https://orcid.org/0000-0002-0736-9199] comment: Obstruction of the intestine is known as ileus. synonym: "Distal intestinal obstruction syndrome" RELATED [] synonym: "Meconium ileus in neonates" EXACT [] synonym: "Meconium ileus on ultrasonography" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:206523001 xref: SNOMEDCT_US:233662009 xref: SNOMEDCT_US:86092005 xref: UMLS:C0398349 xref: UMLS:C2939175 xref: UMLS:C3553397 is_a: HP:0010676 ! Mechanical ileus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:16:00Z [Term] id: HP:0004403 name: Proximal esophageal atresia xref: UMLS:C4025325 is_a: HP:0002032 ! Esophageal atresia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:17:00Z [Term] id: HP:0004404 name: Abnormal nipple morphology def: "An abnormality of the nipple." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the nipple" EXACT layperson [] xref: SNOMEDCT_US:700153004 xref: UMLS:C3839073 is_a: HP:0031093 ! Abnormal breast morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:18:00Z [Term] id: HP:0004405 name: Prominent nipples subset: hposlim_core synonym: "Prominent nipples" EXACT layperson [] xref: UMLS:C1855513 is_a: HP:0004404 ! Abnormal nipple morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:19:00Z [Term] id: HP:0004406 name: Spontaneous, recurrent epistaxis alt_id: HP:0003684 synonym: "Recurrent epistaxes" EXACT [] synonym: "Recurrent epistaxis" EXACT [] synonym: "Recurring nosebleed" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spontaneous, recurrent nosebleed" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3809715 is_a: HP:0000421 ! Epistaxis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004407 name: Bony paranasal bossing xref: UMLS:C1857499 is_a: HP:0012812 ! Fullness of paranasal tissue property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004408 name: Abnormality of the sense of smell alt_id: HP:0004410 def: "An anomaly in the ability to perceive and distinguish scents (odors)." [] subset: hposlim_core synonym: "Abnormal sense of smell" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of olfaction" EXACT [] synonym: "Abnormality of the sense of smell" EXACT layperson [] synonym: "Smell defect" EXACT layperson [] xref: UMLS:C4021655 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004409 name: Hyposmia def: "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased smell sensation" EXACT [] synonym: "Sense of smell impaired" EXACT [] xref: SNOMEDCT_US:83156004 xref: UMLS:C2364082 is_a: HP:0004408 ! Abnormality of the sense of smell property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004411 name: Deviated nasal septum def: "Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Crooked nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deviated nasal septum" EXACT layperson [] synonym: "Deviated septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:126660000 xref: UMLS:C0549397 is_a: HP:0000419 ! Abnormal nasal septum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:23:00Z [Term] id: HP:0004414 name: Abnormality of the pulmonary artery def: "An abnormality of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:128588008 xref: SNOMEDCT_US:198914002 xref: SNOMEDCT_US:36110001 xref: UMLS:C0009681 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004415 name: Pulmonary artery stenosis def: "An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [https://orcid.org/0000-0002-0736-9199, PMID:30587259] comment: Stenosis, or narrowing, of the branches of the pulmonary artery is a type of congenital heart disease that, if left untreated, may lead to significant complications. Ideally, interventions to treat stenosis occur before significant complications or long-term sequelae take place, often within the first 2 years of life. synonym: "Narrowing of lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:1622 xref: SNOMEDCT_US:95441000 xref: UMLS:C0238397 is_a: HP:0030966 ! Abnormal pulmonary artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004416 name: Precocious atherosclerosis synonym: "Premature atherosclerosis" EXACT [] synonym: "Premature plaque build-up in arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021654 xref: UMLS:C4280264 is_a: HP:0002621 ! Atherosclerosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004417 name: Intermittent claudication def: "Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still." [PMID:27770207] comment: Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. xref: SNOMEDCT_US:63491006 xref: UMLS:C0021775 is_a: HP:0025323 ! Abnormal arterial physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:29:00Z [Term] id: HP:0004418 name: Thrombophlebitis def: "Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:64156001 xref: UMLS:C0040046 is_a: HP:0004936 ! Venous thrombosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:30:00Z [Term] id: HP:0004419 name: Recurrent thrombophlebitis def: "Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent phlebitis" EXACT [] synonym: "Recurrent thrombosis" EXACT [] xref: UMLS:C3550150 is_a: HP:0004418 ! Thrombophlebitis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:31:00Z [Term] id: HP:0004420 name: Arterial thrombosis def: "The formation of a blood clot inside an artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in artery" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:65198009 xref: UMLS:C0151942 is_a: HP:0001977 ! Abnormal thrombosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:32:00Z [Term] id: HP:0004421 name: Elevated systolic blood pressure alt_id: HP:0004956 def: "Abnormal increase in systolic blood pressure." [https://orcid.org/0000-0002-0736-9199] comment: Normal systolic blood pressure is less than 120 mmHg in adults. synonym: "Elevated systolic BP" EXACT abbreviation [] xref: UMLS:C1840374 is_a: HP:0032263 ! Increased blood pressure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:33:00Z [Term] id: HP:0004422 name: Biparietal narrowing def: "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased width of the skull" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1854418 xref: UMLS:C4280532 is_a: HP:0002683 ! Abnormal calvaria morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:35:00Z [Term] id: HP:0004423 name: Cranium bifidum occultum def: "Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures. Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain. Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge." [PMID:28522383] comment: Cranium bifidum tends to resolve into distinct enlarged parietal foramina over the first few years of life through the midline ossification of a central bridge of bone bisecting the defect. xref: SNOMEDCT_US:718099006 xref: UMLS:C1868598 is_a: HP:0002084 ! Encephalocele property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:37:00Z [Term] id: HP:0004425 name: Flat forehead alt_id: HP:0004659 def: "A forehead with abnormal flatness." [https://orcid.org/0000-0002-0736-9199] synonym: "Flat forehead" EXACT layperson [] synonym: "Flattened forehead" EXACT layperson [] synonym: "Frontal flattening" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1857485 is_a: HP:0000290 ! Abnormal forehead morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:41:00Z [Term] id: HP:0004426 name: Abnormal cheek morphology def: "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface" [] synonym: "Abnormality of the cheek" EXACT layperson [] synonym: "Abnormality of the cheeks" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the cheeks" NARROW layperson [] synonym: "Deformity of the cheeks" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the cheeks" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025324 is_a: HP:0000309 ! Abnormal midface morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:42:00Z [Term] id: HP:0004428 name: Elfin facies def: "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Elf-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Elf-like facial features" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Leprechaun facies" RELATED [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:69288002 xref: UMLS:C0332606 is_a: HP:0001999 ! Abnormal facial shape property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:43:00Z [Term] id: HP:0004429 name: Recurrent viral infections alt_id: HP:0005364 def: "Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1837066 is_a: HP:0002719 ! Recurrent infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:45:00Z [Term] id: HP:0004430 name: Severe combined immunodeficiency def: "A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems." [https://orcid.org/0000-0002-0736-9199] synonym: "Immunodeficiency, severe combined" EXACT [] xref: SNOMEDCT_US:31323000 xref: UMLS:C0085110 is_a: HP:0005387 ! Combined immunodeficiency property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:46:00Z [Term] id: HP:0004431 name: Reduced circulating complement concentration def: "An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins." [PMID:24161035] synonym: "Complement deficiency" EXACT [] xref: SNOMEDCT_US:24743004 xref: UMLS:C0272242 is_a: HP:0005339 ! Abnormality of complement system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:51:00Z [Term] id: HP:0004432 name: Agammaglobulinemia alt_id: HP:0008328 def: "A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured." [https://orcid.org/0000-0002-0736-9199] synonym: "Agammaglobulinaemia" EXACT [] xref: SNOMEDCT_US:119249001 xref: UMLS:C0001768 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:47:00Z [Term] id: HP:0004433 name: Secretory IgA deficiency def: "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens." [https://orcid.org/0000-0002-0736-9199, PMID:2251975] xref: SNOMEDCT_US:234554004 xref: UMLS:C0398709 is_a: HP:0041078 ! Decreased immunoglobulin level in body fluid property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:48:00Z [Term] id: HP:0004434 name: Decreased circulating complement C8 concentration def: "Concentration of the complement component C8 in the blood circulation below the lower limit of normal." [PMID:8098723] comment: The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections. synonym: "C8 deficiency" EXACT [] synonym: "Decreased serum complement C8" EXACT [] xref: UMLS:C3151082 is_a: HP:0033057 ! Decreased circulating terminal complement component concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:53:00Z [Term] id: HP:0004437 name: Cranial hyperostosis alt_id: HP:0002698 def: "Excessive growth of the bones of cranium, i.e., of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlargement of skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive growth of skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of cranial vault" EXACT [] synonym: "Hypertrophy of cranial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1832451 xref: UMLS:C4280528 xref: UMLS:C4280529 xref: UMLS:C4280530 xref: UMLS:C4280531 is_a: HP:0002683 ! Abnormal calvaria morphology is_a: HP:0100774 ! Hyperostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004438 name: Hyperostosis frontalis interna def: "Bony overgrowth of the internal (endosteal) surface of the frontal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlargement of the inner surface of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive growth of inner surface of the frontal bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of the internal surface of the frontal bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of the internal surface of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of the internal surface of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of the inner surface of the frontal bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of the inside of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Thick inner surface of the frontal bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick internal surface of the frontal bone" BROAD [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:82054006 xref: UMLS:C0020494 xref: UMLS:C4280524 xref: UMLS:C4280525 xref: UMLS:C4280526 xref: UMLS:C4280527 is_a: HP:0004437 ! Cranial hyperostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004439 name: Craniofacial dysostosis def: "A characteristic appearance resulting from defective ossification of craniofacial bones." [https://orcid.org/0000-0002-0736-9199] comment: Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. synonym: "Crouzon syndrome" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:28861008 xref: UMLS:C0010273 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000929 ! Abnormal skull morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:58:00Z [Term] id: HP:0004440 name: Coronal craniosynostosis alt_id: HP:0002675 alt_id: HP:0002685 alt_id: HP:0002739 alt_id: HP:0004441 def: "Premature closure of the coronal suture of skull." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Coronal suture craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Coronal suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Craniosynostosis of coronal suture" EXACT [] xref: UMLS:C1856266 is_a: HP:0001363 ! Craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T09:59:00Z [Term] id: HP:0004442 name: Sagittal craniosynostosis def: "A kind of craniosynostosis affecting the sagittal suture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Craniosynostosis, sagittal" EXACT [] synonym: "Craniosynostosis, sagittal suture" EXACT [] synonym: "Early closure of midline skull joint" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Midline skull joint closes early" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Sagittal suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:109418001 xref: UMLS:C0432123 is_a: HP:0001363 ! Craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004443 name: Lambdoidal craniosynostosis alt_id: HP:0004486 def: "A kind of craniosynostosis affecting the lambdoidal suture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Lambdoid suture craniosynostosis" EXACT [] synonym: "Lambdoid suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:109417006 xref: UMLS:C1833340 is_a: HP:0001363 ! Craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004444 name: Spherocytosis alt_id: HP:0004816 def: "The presence of erythrocytes that are sphere-shaped." [https://orcid.org/0000-0002-0736-9199] comment: Erythrocytes are normally biconcave rather than spherical. xref: SNOMEDCT_US:17235000 xref: UMLS:C0553720 is_a: HP:0004447 ! Poikilocytosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004445 name: Elliptocytosis alt_id: HP:0004837 def: "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear." [https://orcid.org/0000-0002-0736-9199, PMID:16304353, PMID:21250106] comment: Elliptocytes (ovalocytes) are abnormal erythrocytes ranging from slightly oval to elongated cigar-shaped forms. synonym: "Elliptocyte" RELATED [] synonym: "Hereditary elliptocytosis" RELATED [] synonym: "Ovalocytes" EXACT [] synonym: "Ovalocytosis" EXACT [https://en.wikipedia.org/wiki/hereditary_elliptocytosis, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:178935009 xref: SNOMEDCT_US:191169008 xref: SNOMEDCT_US:250242004 xref: UMLS:C0013902 xref: UMLS:C0427480 is_a: HP:0004447 ! Poikilocytosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004446 name: Stomatocytosis alt_id: HP:0004801 def: "The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear." [https://orcid.org/0000-0002-0736-9199, PMID:16304353] synonym: "erythrocyte stomatocytes" EXACT [] synonym: "Red cell stomatocytosis" EXACT [] xref: UMLS:C0677598 is_a: HP:0004447 ! Poikilocytosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004447 name: Poikilocytosis def: "The presence of abnormally shaped erythrocytes." [https://orcid.org/0000-0002-0736-9199] comment: General description for abnormally shaped erythrocytes. xref: SNOMEDCT_US:165479004 xref: UMLS:C0221281 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:06:00Z [Term] id: HP:0004448 name: Fulminant hepatic failure def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:197270009 xref: SNOMEDCT_US:235884008 xref: UMLS:C0162557 is_a: HP:0006554 ! Acute hepatic failure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-18T10:09:00Z [Term] id: HP:0004450 name: Preauricular skin furrow def: "A groove of the skin immediately in front of the ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Preauricular skin furrows" EXACT [] synonym: "Preauricular skin groove" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular skin sulcus" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Skin groove in front of the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Skin sulcus in front of the ear" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1852411 is_a: HP:0000383 ! Abnormal periauricular region morphology [Term] id: HP:0004451 name: Postauricular skin tag def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear)." [https://orcid.org/0000-0002-0736-9199] synonym: "Postauricular acrochordon" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Postauricular fibroepithelial polyp" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Skin tag behind the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025323 is_a: HP:0000383 ! Abnormal periauricular region morphology [Term] id: HP:0004452 name: Abnormality of the middle ear ossicles alt_id: HP:0001759 def: "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Malformed ossicles" EXACT [] synonym: "Ossicular malformation" EXACT [] xref: UMLS:C1836678 is_a: HP:0008609 ! Abnormal middle ear morphology [Term] id: HP:0004453 name: Overfolding of the superior helices def: "A condition in which the superior portion of the helix is folded over to a greater degree than normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Overfolding of superior helix" EXACT [] xref: UMLS:C1865304 is_a: HP:0000396 ! Overfolded helix [Term] id: HP:0004454 name: Abnormal middle ear reflexes xref: UMLS:C1970887 is_a: HP:0011452 ! Functional abnormality of the middle ear [Term] id: HP:0004458 name: Dilatated internal auditory canal def: "The presence of a dilated inner part of external acoustic meatus." [https://orcid.org/0000-0002-0736-9199] synonym: "Bulbous internal auditory canal" EXACT [] synonym: "Enlarged internal auditory canal" EXACT [] xref: UMLS:C2676973 is_a: HP:0011384 ! Abnormality of the internal auditory canal [Term] id: HP:0004459 name: Exostosis of the external auditory canal def: "A benign bony growth projecting outward from a bone surface within the external auditory canal." [https://orcid.org/0000-0002-0736-9199] synonym: "External auditory canal exostoses" EXACT [] xref: SNOMEDCT_US:19560007 xref: UMLS:C0155411 is_a: HP:0000372 ! Abnormal auditory canal morphology is_a: HP:0040095 ! Neoplasm of the outer ear is_a: HP:0100777 ! Exostoses [Term] id: HP:0004461 name: Congenital earlobe sinuses def: "Pits in the earlobes at the location where ears are typically pierced for earrings." [PMID:6958333] xref: UMLS:C1969394 is_a: HP:0000363 ! Abnormal earlobe morphology [Term] id: HP:0004463 name: Absent brainstem auditory responses def: "Lack of measurable response to stimulation of auditory evoked potentials." [https://orcid.org/0000-0002-0736-9199] synonym: "No auditory brainstem response" EXACT [] xref: UMLS:C1836742 is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004464 name: Postauricular pit def: "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Pit behind the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Postauricular earpits" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Postauricular fistula" EXACT [] synonym: "Posterior auricular pit" EXACT [] synonym: "Posterior auricular sinus" EXACT [] xref: SNOMEDCT_US:43887004 xref: UMLS:C0395905 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0004466 name: Delayed brainstem auditory evoked response conduction time def: "An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response." [] xref: UMLS:C4025322 is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004467 name: Preauricular pit alt_id: HP:0000392 alt_id: HP:0004460 alt_id: HP:0005118 alt_id: HP:0008552 alt_id: HP:0008578 def: "Small indentation anterior to the insertion of the ear." [https://orcid.org/0009-0006-4530-3154, PMID:19152421] comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. synonym: "Ear pit" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Pit in front of the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular earpits" EXACT [] synonym: "Preauricular fistulas" EXACT [] synonym: "Preauricular pits" EXACT [] synonym: "Preauricular sinus" EXACT [] xref: SNOMEDCT_US:1955003 xref: SNOMEDCT_US:204271000 xref: SNOMEDCT_US:204272007 xref: UMLS:C0266610 xref: UMLS:C0266625 xref: UMLS:C0546969 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0004468 name: Anomalous tracheal cartilage def: "An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue)." [] synonym: "Abnormal tracheal cartilaginous ring" EXACT [] xref: UMLS:C1863406 is_a: HP:0002778 ! Abnormal tracheal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0004469 name: Chronic bronchitis def: "Chronic inflammation of the bronchi." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:63480004 xref: UMLS:C0008677 is_a: HP:0012387 ! Bronchitis [Term] id: HP:0004470 name: Atretic occipital cephalocele def: "A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1836600 is_a: HP:0011815 ! Cephalocele [Term] id: HP:0004471 name: Aplasia cutis congenita over the scalp vertex def: "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent cutis congenita of vertex" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia cutis congenita of vertex" EXACT [] xref: UMLS:C1970112 is_a: HP:0007385 ! Aplasia cutis congenita of scalp [Term] id: HP:0004472 name: Mandibular hyperostosis def: "Hyperostosis (bony overgrowth) of the mandible." [https://orcid.org/0000-0002-0736-9199] comment: This bundled term will be made obsolete in future versions of the HPO. synonym: "Excessive growth of mandibular bone" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of mandibular bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of lower jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of mandible" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of mandibular bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of mandibular bone" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Thick lower jaw bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick mandibular bone" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025321 xref: UMLS:C4280521 xref: UMLS:C4280522 xref: UMLS:C4280523 is_a: HP:0005465 ! Facial hyperostosis [Term] id: HP:0004474 name: Persistent open anterior fontanelle alt_id: HP:0004475 alt_id: HP:0004483 def: "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior fontanelle open in adults" RELATED [] synonym: "Front fontanelle stays open" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Persistent, open anterior fontanel" EXACT [] xref: UMLS:C1849537 is_a: HP:0001476 ! Delayed closure of the anterior fontanelle [Term] id: HP:0004476 name: Aplasia cutis congenita over parietal area def: "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent cutis congenita over parietal area" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1863492 is_a: HP:0007385 ! Aplasia cutis congenita of scalp [Term] id: HP:0004478 name: obsolete Ethmoidal encephalocele is_obsolete: true replaced_by: HP:0007330 [Term] id: HP:0004481 name: Progressive macrocephaly alt_id: HP:0000261 def: "The progressive development of an abnormally large skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Macrocephaly, progressive" EXACT [] synonym: "Progressively abnormally enlarging cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Progressively abnormally enlarging skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859896 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004482 name: Relative macrocephaly alt_id: HP:0000257 alt_id: HP:0001364 def: "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [https://orcid.org/0000-0002-0736-9199] synonym: "Disproportionately large head" EXACT [] synonym: "Macrocephaly, relative" EXACT [] synonym: "Relatively large head" EXACT layperson [] xref: SNOMEDCT_US:3961000119101 xref: UMLS:C1849075 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004484 name: Craniofacial asymmetry def: "Asymmetry of the bones of the skull and the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of craniofacial shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of craniofacial shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven craniofacial structures" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025320 is_a: HP:0000267 ! Cranial asymmetry is_a: HP:0000324 ! Facial asymmetry is_a: HP:0011821 ! Abnormal facial skeleton morphology [Term] id: HP:0004485 name: Cessation of head growth def: "Stagnation of head growth seen as flattening of the head circumference curve." [https://orcid.org/0000-0002-0736-9199] synonym: "Cranium stopped growing" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Head stopped growing" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Skull stopped growing" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025319 is_a: HP:0005484 ! Secondary microcephaly [Term] id: HP:0004487 name: Acrobrachycephaly def: "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:711039004 xref: UMLS:C1863395 is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0004488 name: Macrocephaly at birth def: "The presence of an abnormally large skull with onset at birth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Big cranium present at birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Big cranium present since birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Big head present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big head present since birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big skull present at birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big skull present since birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital large cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital large head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital large skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital macrocephaly" EXACT [] synonym: "Head circumference large for gestational age" EXACT [] synonym: "Large cranium present at birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large cranium present since birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large head present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large head present since birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large skull present at birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large skull present since birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836599 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004490 name: Calvarial hyperostosis def: "Excessive growth of the calvaria." [https://orcid.org/0000-0002-0736-9199] comment: The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw. synonym: "Enlargement of calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive growth of calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of calvarial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of calvarial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of skullcap" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick calvarial bones" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1863351 xref: UMLS:C4280519 xref: UMLS:C4280520 is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0004491 name: Large posterior fontanelle def: "An enlargement of the posterior fontanelle relative to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Large posterior fontanel" EXACT [] xref: UMLS:C1855233 is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0004492 name: Widely patent fontanelles and sutures alt_id: HP:0002646 alt_id: HP:0005492 def: "An abnormally increased width of the cranial fontanelles and sutures." [https://orcid.org/0000-0002-0736-9199] comment: This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures. synonym: "Widely patent fontanels and sutures" EXACT [] xref: UMLS:C1849300 is_a: HP:0000239 ! Large fontanelles is_a: HP:0010537 ! Wide cranial sutures [Term] id: HP:0004493 name: Craniofacial hyperostosis def: "Excessive growth of the craniofacial bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Enlargement of craniofacial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive bone growth of the skull and face" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Excessive growth of craniofacial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of craniofacial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of craniofacial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of craniofacial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of craniofacial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick craniofacial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1868085 xref: UMLS:C4280516 xref: UMLS:C4280517 xref: UMLS:C4280518 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0004437 ! Cranial hyperostosis is_a: HP:0011821 ! Abnormal facial skeleton morphology [Term] id: HP:0004495 name: obsolete Thin anteverted nares is_obsolete: true replaced_by: HP:0000463 [Term] id: HP:0004496 name: obsolete Posterior choanal atresia is_obsolete: true replaced_by: HP:0000453 [Term] id: HP:0004499 name: Chronic rhinitis due to narrow nasal airway synonym: "Chronic nasal inflammation due to narrow nasal airway" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025318 is_a: HP:0002257 ! Chronic rhinitis [Term] id: HP:0004502 name: Bilateral choanal atresia def: "Bilateral absence (atresia) of the posterior nasal aperture (choana)." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral blockage of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral obstruction of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025317 is_a: HP:0000453 ! Choanal atresia [Term] id: HP:0004510 name: Pancreatic islet-cell hyperplasia alt_id: HP:0001736 alt_id: HP:0006275 def: "Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells." [https://orcid.org/0000-0002-0736-9199] comment: The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin). synonym: "Hyperplastic islets of langerhans" EXACT [] synonym: "Hypertrophic pancreatic islets" EXACT [] synonym: "Islet of Langerhans hyperplasia" EXACT [] synonym: "Islets of langerhans hypertrophy" EXACT [] synonym: "Pancreatic islet-cell hypertrophy" EXACT [] xref: UMLS:C0597167 is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0004523 name: Long eyebrows def: "Increased length of the hairs of the eyebrows." [https://orcid.org/0000-0002-0736-9199] synonym: "Elongated eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased horizontal length of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased transverse length of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long eyebrows" EXACT layperson [] xref: UMLS:C3280131 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0004524 name: Temporal hypotrichosis def: "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)." [https://orcid.org/0000-0002-0736-9199] synonym: "Reduced hair growth in temporal region" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025316 is_a: HP:0011361 ! Congenital abnormal hair pattern [Term] id: HP:0004527 name: Large clumps of pigment irregularly distributed along hair shaft synonym: "Large clumps of pigment irregularly distributed along hair shaft" EXACT layperson [] xref: UMLS:C4025315 is_a: HP:0002220 ! Melanin pigment aggregation in hair shafts [Term] id: HP:0004528 name: Generalized hypotrichosis alt_id: HP:0004513 def: "Reduced or lacking hair growth in a generalized distribution." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised hypotrichosis" EXACT uk_spelling [] synonym: "Hypotrichosis, generalised" EXACT uk_spelling [] synonym: "Hypotrichosis, generalized" EXACT [] xref: UMLS:C4021653 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0004529 name: Atrophic, patchy alopecia xref: UMLS:C4025314 is_a: HP:0002232 ! Patchy alopecia [Term] id: HP:0004532 name: Sacral hypertrichosis def: "Excessive, increased hair growth located in the sacral region." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025313 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004535 name: Anterior cervical hypertrichosis alt_id: HP:0004517 alt_id: HP:0004773 def: "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence." [https://orcid.org/0000-0002-0736-9199, PMID:20400390] synonym: "Congenital cervical hypertrichosis" EXACT [] synonym: "Hypertrichosis, congenital anterior cervical" EXACT [] xref: UMLS:C1838123 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004540 name: Congenital, generalized hypertrichosis alt_id: HP:0004547 alt_id: HP:0004769 def: "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth." [https://orcid.org/0000-0002-0736-9199] comment: Hypertrichosis refers to excessive, abnormal hairiness. synonym: "Congenital generalised hypertrichosis" EXACT uk_spelling [] synonym: "Congenital generalized hypertrichosis" EXACT [] synonym: "Congenital, generalised hypertrichosis" EXACT uk_spelling [] synonym: "Hypertrichosis universalis" EXACT [] xref: UMLS:C1855900 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004544 name: obsolete Pointed frontal hairline is_obsolete: true replaced_by: HP:0000349 [Term] id: HP:0004552 name: Scarring alopecia of scalp synonym: "Cicatricial alopecia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hair loss on scalp from scarring condition" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3806301 is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0002293 ! Alopecia of scalp [Term] id: HP:0004554 name: Generalized hypertrichosis alt_id: HP:0004543 alt_id: HP:0004766 def: "Generalized excessive, abnormal hairiness." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised hypertrichosis" EXACT uk_spelling [] xref: UMLS:C3277940 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004557 name: Anterior vertebral fusion xref: UMLS:C1969393 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0004558 name: Cervical platyspondyly alt_id: HP:0005641 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine." [https://orcid.org/0000-0002-0736-9199] synonym: "Flattened cervical vertebral bodies" EXACT [] xref: UMLS:C1856641 is_a: HP:0000926 ! Platyspondyly is_a: HP:0046508 ! Abnormal cervical spine morphology [Term] id: HP:0004562 name: Beaking of vertebral bodies T12-L3 xref: UMLS:C1854941 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004563 name: Increased spinal bone density def: "Increased bone density affecting the bones of the spine (vertebral column)." [https://orcid.org/0000-0002-0736-9199] synonym: "Compact spinal bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Concrete spinal bone" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dense spinal bone" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eburnation of spinal bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased density of spinal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased spinal bone density Z-score" RELATED [] synonym: "Ivory spinal bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Sclerosis of spinal bone" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4020828 xref: UMLS:C4280254 xref: UMLS:C4280513 xref: UMLS:C4280514 xref: UMLS:C4280515 is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0004565 name: Severe platyspondyly alt_id: HP:0004564 synonym: "platyspondyly, extreme" EXACT [] xref: UMLS:C1850293 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004566 name: Pear-shaped vertebrae def: "Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours." [https://orcid.org/0000-0002-0736-9199, PMID:16167086] synonym: "Pear-shaped vertebral bodies" EXACT [] xref: UMLS:C1866731 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004568 name: Beaking of vertebral bodies alt_id: HP:0003313 alt_id: HP:0003315 alt_id: HP:0004569 alt_id: HP:0004577 alt_id: HP:0004584 alt_id: HP:0005122 def: "Anterior tongue-like protrusions of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "anterior beaking" EXACT [] synonym: "Anterior beaking of vertebrae" EXACT [] synonym: "Anterior beaking of vertebral bodies" EXACT [] synonym: "Beaked vertebral bodies" EXACT [] synonym: "Vertebral tongue-like protrusion" EXACT [] xref: SNOMEDCT_US:19888007 xref: UMLS:C0264112 xref: UMLS:C1856599 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004570 name: Increased vertebral height alt_id: HP:0005693 def: "Increased top to bottom height of vertebral bodies." [https://orcid.org/0000-0002-0736-9199] synonym: "Tall vertebral bodies" EXACT [] xref: UMLS:C1864853 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004571 name: Widening of cervical spinal canal xref: UMLS:C3807591 is_a: HP:0046508 ! Abnormal cervical spine morphology [Term] id: HP:0004573 name: Anterior wedging of T11 def: "An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front)." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior wedging of the 11th thoracic vertebra" EXACT [] synonym: "Wedge-shaped 11th thoracic vertebra" EXACT [] xref: UMLS:C4021652 is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0004575 name: Fusion of midcervical facet joints xref: UMLS:C1847394 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004576 name: Sclerotic vertebral endplates def: "Sclerosis (increased density) affecting vertebral end plates." [https://orcid.org/0000-0002-0736-9199] synonym: "Endplate sclerosis" EXACT [] xref: UMLS:C1859698 is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0004580 name: Anterior scalloping of vertebral bodies def: "An excessive concavity of the anterior surface of one or more vertebral bodies." [https://orcid.org/0000-0002-0736-9199] comment: One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin. synonym: "Anterior scalloping vertebral bodies" RELATED [] xref: UMLS:C2673652 is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0004581 name: Increased anterior vertebral height xref: UMLS:C1866732 is_a: HP:0004570 ! Increased vertebral height [Term] id: HP:0004582 name: Irregularity of vertebral bodies xref: UMLS:C4025311 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004586 name: Biconcave vertebral bodies alt_id: HP:0002952 alt_id: HP:0004561 alt_id: HP:0004620 def: "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward." [https://orcid.org/0000-0002-0736-9199] comment: This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies. subset: hposlim_core synonym: "Biconcave 'codfish' vertebrae" EXACT [] synonym: "Biconcave vertebrae" EXACT [] synonym: "Codfish vertebrae" EXACT [] synonym: "Fish vertebrae" EXACT [] synonym: "Scalloping of vertebral bodies" EXACT [] xref: UMLS:C1856087 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004589 name: Dysplasia of second lumbar vertebra xref: UMLS:C4025310 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0004590 name: Hypoplastic sacrum def: "A developmental defect characterized by undergrowth of the sacrum, which is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1-S5)." [PMID:15350034] synonym: "Small sacrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1970816 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0004591 name: Disc-like vertebral bodies xref: UMLS:C1835444 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004592 name: Thoracic platyspondyly def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1862428 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004594 name: Hump-shaped mound of bone in central and posterior portions of vertebral endplate xref: UMLS:C1839252 is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004598 name: Supernumerary vertebral ossification centers def: "Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine." [https://orcid.org/0000-0002-0736-9199] synonym: "Supernumerary vertebral ossification centres" EXACT uk_spelling [] xref: UMLS:C4025309 is_a: HP:0000926 ! Platyspondyly is_a: HP:0100569 ! Abnormally ossified vertebrae [Term] id: HP:0004599 name: Absent or minimally ossified vertebral bodies xref: UMLS:C1832983 is_a: HP:0100569 ! Abnormally ossified vertebrae [Term] id: HP:0004601 name: Spina bifida occulta at L5 def: "The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025308 is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004602 name: Cervical C2/C3 vertebral fusion alt_id: HP:0004636 def: "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [https://orcid.org/0000-0002-0736-9199] synonym: "Fusion of cervical vertebrae c2-3" EXACT [] synonym: "Klippel-Feil anomaly" EXACT [] synonym: "Klippel-Feil syndrome" EXACT [] xref: SNOMEDCT_US:388981000 xref: SNOMEDCT_US:5601008 xref: UMLS:C0022738 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004603 name: Hyperconvex vertebral body endplates xref: UMLS:C4025307 is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0004605 name: Absent vertebral body mineralization def: "A lack of bone mineralization of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1860191 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0004606 name: Unossified vertebral bodies alt_id: HP:0008427 def: "A lack of ossification of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1860202 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0004607 name: Anterior beaking of lower thoracic vertebrae def: "Anterior tongue-like protrusions of the lower thoracic vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025306 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004608 name: Anteriorly placed odontoid process def: "Anterior mislocalization of the dens of the axis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1844512 is_a: HP:0003310 ! Abnormal odontoid process morphology [Term] id: HP:0004609 name: Patchy distortion of vertebrae xref: UMLS:C4025305 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004610 name: Lumbar spinal canal stenosis def: "An abnormal narrowing of the lumbar spinal canal." [https://orcid.org/0000-0002-0736-9199, PMID:3160275] comment: Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease). synonym: "Lumbar spinal stenosis" EXACT [] synonym: "Narrow lumbar spinal canal" EXACT [] xref: SNOMEDCT_US:18347007 xref: UMLS:C0158288 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0004611 name: Anterior concavity of thoracic vertebrae synonym: "Anteriorly concave vertebrae" EXACT [] xref: UMLS:C1839822 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004614 name: Spina bifida occulta at S1 def: "The closed form of spina bifida with incomplete closure of S1 with intact overlying skin." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025304 is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004616 name: Cleft vertebral arch def: "A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft vertebral arches" RELATED [] xref: UMLS:C1859458 is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0004617 name: Butterfly vertebral arch def: "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1861627 is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0004618 name: Sandwich appearance of vertebral bodies xref: UMLS:C1850134 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004619 name: Lumbar kyphoscoliosis xref: UMLS:C1834953 is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0004626 ! Lumbar scoliosis is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0004621 name: Enlarged vertebral pedicles def: "Increased size of the vertebral pedicle." [https://orcid.org/0000-0002-0736-9199] comment: The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch. synonym: "Hyperplastic vertebral pedicles" EXACT [] xref: UMLS:C4025303 is_a: HP:0030277 ! Abnormal vertebral pedicle morphology [Term] id: HP:0004622 name: Progressive intervertebral space narrowing def: "A progressive form of decreased height of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1837670 is_a: HP:0002945 ! Intervertebral space narrowing [Term] id: HP:0004625 name: Biconvex vertebral bodies def: "Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates." [https://orcid.org/0000-0002-0736-9199] comment: Note that biconvex vertebral bodies can be a normal finding in newborns. xref: UMLS:C1866675 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004626 name: Lumbar scoliosis xref: UMLS:C2748518 is_a: HP:0002944 ! Thoracolumbar scoliosis [Term] id: HP:0004629 name: Small cervical vertebral bodies alt_id: HP:0008429 def: "Reduced size of cervical vertebrae." [https://orcid.org/0000-0002-0736-9199] synonym: "Small cervical vertebrae" EXACT [] xref: UMLS:C1851130 is_a: HP:0008479 ! Hypoplastic vertebral bodies [Term] id: HP:0004630 name: Anterior beaking of thoracic vertebrae def: "Anterior tongue-like protrusions of thoracic vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025302 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004631 name: Decreased cervical spine flexion due to contractures of posterior cervical muscles synonym: "Contracture of post-cervical muscles" EXACT [] synonym: "Inability to touch chin to chest" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839653 xref: UMLS:C4280512 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0004632 name: Cervical segmentation defect alt_id: HP:0004612 def: "An abnormality related to a defect of vertebral separation of cervical vertebrae during development." [https://orcid.org/0000-0002-0736-9199] synonym: "Cervical spine segmentation defect" EXACT [] xref: UMLS:C1862415 is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0004633 name: Lower thoracic kyphosis def: "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump." [https://orcid.org/0000-0002-0736-9199] synonym: "Round mid-back" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1864361 is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0004634 name: Cuboid-shaped vertebral bodies synonym: "Cuboid vertebral bodies" EXACT [] xref: UMLS:C2673653 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004635 name: Cervical C5/C6 vertebrae fusion def: "Fusion of the C5 and C6 cervical vertebrae." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025301 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004637 name: Decreased cervical spine mobility synonym: "Limited neck movement" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1859692 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004639 name: Elevated amniotic fluid alpha-fetoprotein alt_id: HP:0005985 def: "An elevation of alpha-feto protein measured in the amniotic fluid." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele. synonym: "Elevated amniotic fluid alpha fetal protein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, https://orcid.org/0000-0001-5208-3432] synonym: "Elevated amniotic fluid alpha foetal protein" EXACT uk_spelling [] synonym: "Elevated amniotic fluid alpha-1-fetoprotein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, https://orcid.org/0000-0001-5208-3432] synonym: "Elevated amniotic fluid alpha-fetoglobulin" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1839860 is_a: HP:0006254 ! Elevated circulating alpha-fetoprotein concentration [Term] id: HP:0004646 name: Hypoplasia of the nasal bone def: "Underdevelopment of the nasal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased size of nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic nasal bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal bone hypoplasia" EXACT [] synonym: "Small nasal bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021651 is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone [Term] id: HP:0004660 name: Hypoplasia of facial musculature def: "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199] synonym: "Atrophy of facial musculature" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of facial musculature" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic facial musculature" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small facial muscles" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1834042 xref: UMLS:C4280509 xref: UMLS:C4280510 xref: UMLS:C4280511 is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0004661 name: Frontalis muscle weakness def: "Reduced strength of the frontalis muscle (which is located on the forehead)." [https://orcid.org/0000-0002-0736-9199] synonym: "Weak frontalis muscle" EXACT [] synonym: "Weakness of forehead muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859438 is_a: HP:0010628 ! Facial palsy is_a: HP:3000004 ! Abnormal frontalis muscle physiology property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0004664 name: Facial midline hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1862496 is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0004673 name: Decreased facial expression def: "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased facial expression" EXACT layperson [] xref: UMLS:C1862474 is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0004676 name: Prominent supraorbital arches in adult xref: UMLS:C1834993 is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0004679 name: Large tarsal bones synonym: "Large ankle bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1859116 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0004681 name: Deep longitudinal plantar crease def: "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot." [PMID:19125433] subset: hposlim_core synonym: "Foot crease" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Longitudinal groove on soles" EXACT [] xref: UMLS:C1859223 xref: UMLS:C4280508 is_a: HP:0001869 ! Deep plantar creases [Term] id: HP:0004684 name: Talipes valgus def: "Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot." [https://orcid.org/0000-0002-0736-9199] comment: The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone). xref: SNOMEDCT_US:79807003 xref: UMLS:C0152236 is_a: HP:0034673 ! Abnormal ankle morphology [Term] id: HP:0004686 name: Short third metatarsal alt_id: HP:0010673 def: "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of the 3rd metatarsal bone" EXACT [] synonym: "Short 3rd long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021650 is_a: HP:0010672 ! Abnormality of the third metatarsal bone is_a: HP:0010743 ! Short metatarsal [Term] id: HP:0004688 name: Irregular tarsal bones synonym: "Abnormal shape of ankle bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1855240 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0004689 name: Short fourth metatarsal def: "Short fourth metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral fourth metatarsal shortening" EXACT [] synonym: "Short 4th long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short fourth metatarsals" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Short fourth metatarsus" EXACT [] xref: UMLS:C1848514 is_a: HP:0010743 ! Short metatarsal is_a: HP:0040035 ! Abnormality of the fourth metatarsal bone [Term] id: HP:0004690 name: Thickened Achilles tendon def: "An abnormal thickening of the Achilles tendon." [https://orcid.org/0000-0002-0736-9199] synonym: "Thickened Achilles tendon" EXACT layperson [] xref: UMLS:C0919997 is_a: HP:0005109 ! Abnormality of the Achilles tendon [Term] id: HP:0004691 name: 2-3 toe syndactyly alt_id: HP:0001846 alt_id: HP:0001856 alt_id: HP:0003773 alt_id: HP:0004683 alt_id: HP:0004685 alt_id: HP:0004697 alt_id: HP:0004703 alt_id: HP:0008086 alt_id: HP:0008123 def: "Syndactyly with fusion of toes two and three." [https://orcid.org/0009-0006-4530-3154] synonym: "2-3 syndactyly of feet" EXACT [] synonym: "2-3 toe soft tissue syndactyly" EXACT [] synonym: "2-3 toes syndactyly" EXACT [] synonym: "partial or complete syndactyly 2nd-3rd toes" EXACT [] synonym: "Syndactyly of second and third toes" EXACT [] synonym: "Toe syndactyly, 2-3" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Webbed 2nd and 3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205145001 xref: UMLS:C0432040 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004692 name: 4-5 toe syndactyly alt_id: HP:0005826 alt_id: HP:0005861 def: "Syndactyly with fusion of toes four and five." [https://orcid.org/0009-0006-4530-3154] synonym: "Symmetric syndactyly, toes 4 and 5" EXACT [] synonym: "Syndactyly of toes 4 and 5" EXACT [] synonym: "Webbed 4th-5th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837836 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004695 name: Calcaneal epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1861708 is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0004696 name: Talipes cavus equinovarus xref: UMLS:C1832342 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0004699 name: Osteoporotic metatarsal def: "Decrease in mass and density of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1836873 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0004704 name: Short fifth metatarsal alt_id: HP:0004702 alt_id: HP:0010671 def: "Short (hypoplastic) fifth metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of the fifth metatarsal bone" EXACT [] synonym: "Short 5th long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021649 is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone is_a: HP:0010743 ! Short metatarsal [Term] id: HP:0004712 name: Renal malrotation alt_id: HP:0004730 def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation. synonym: "Abnormal rotation of the kidneys" EXACT layperson [] synonym: "Malrotation of the kidney" EXACT [] xref: SNOMEDCT_US:49008000 xref: UMLS:C0238210 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004713 name: Reversible renal failure def: "Acute renal failure with resolution of manifestations." [https://orcid.org/0000-0002-0736-9199] synonym: "Reversible kidney failure" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Reversible renal failure" EXACT layperson [] xref: UMLS:C1843276 is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0004717 name: Axial malrotation of the kidney def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025300 is_a: HP:0004712 ! Renal malrotation [Term] id: HP:0004719 name: Hyperechogenic kidneys def: "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal." [https://orcid.org/0000-0002-0736-9199, PMID:2259758, PMID:24235286] comment: Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright. synonym: "Echogenic kidneys" EXACT [] synonym: "Increased echogenicity of the renal parenchyma" EXACT [] xref: UMLS:C3275899 is_a: HP:0033130 ! Abnormal renal echogenicity [Term] id: HP:0004722 name: Thickened glomerular basement membrane def: "Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: This finding is demonstrated on renal biopsy. xref: SNOMEDCT_US:264932002 xref: UMLS:C0445347 is_a: HP:0033282 ! Abnormal glomerular basement membrane morphology property_value: RO:0002581 "Thickening of the glomerular basement membrane" xsd:string [Term] id: HP:0004724 name: Calcium nephrolithiasis def: "The presence of calcium-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] comment: The overwhelming majority of renal calculi contain calcium. synonym: "Ca kidney stone" EXACT abbreviation [] synonym: "Ca nephrolithiasis" EXACT abbreviation [] synonym: "Ca2+ kidney stone" EXACT abbreviation [] synonym: "Ca2+ nephrolithiasis" EXACT abbreviation [] synonym: "Calcium kidney stone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1855801 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0004727 name: Impaired renal concentrating ability alt_id: HP:0005568 def: "A defect in the ability to concentrate the urine." [https://orcid.org/0000-0002-0736-9199] comment: An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation. synonym: "Urine concentrating defect" EXACT [] synonym: "Urine concentration defect" EXACT [] xref: UMLS:C1859819 is_a: HP:0011038 ! Abnormal renal tubular resorption [Term] id: HP:0004729 name: Acute tubulointerstitial nephritis def: "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1843274 is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004732 name: Impaired renal uric acid clearance def: "A reduction in the ability of the kidneys to remove uric acid from the serum." [https://orcid.org/0000-0002-0736-9199] synonym: "Uric acid fractional excretion decreased" EXACT [] xref: UMLS:C1969371 is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0004734 name: Renal cortical microcysts alt_id: HP:0000814 def: "Cysts of microscopic size confined to the cortex of the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Cortical microcysts" EXACT [] synonym: "Multiple renal cortical microcysts" EXACT [] synonym: "Multiple small renal cortical cysts" EXACT [] xref: UMLS:C1865877 is_a: HP:0000803 ! Renal cortical cysts [Term] id: HP:0004736 name: Crossed fused renal ectopia def: "A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Crossed-fused renal ectopia" EXACT [] synonym: "Ectopic kidney with fusion" EXACT [] xref: UMLS:C1835796 is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0004737 name: Global glomerulosclerosis def: "Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, https://orcid.org/0000-0003-2356-950X] comment: Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). xref: UMLS:C1865276 is_a: HP:0000096 ! Glomerular sclerosis [Term] id: HP:0004742 name: Abnormal renal collecting system morphology alt_id: HP:0004731 def: "An abnormality of the renal collecting system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal collecting system" EXACT [] synonym: "Abnormality of the renal collecting system" EXACT [] synonym: "Renal collecting system anomalies" EXACT [] xref: UMLS:C1851303 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004743 name: Chronic tubulointerstitial nephritis def: "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:60926001 xref: UMLS:C0238304 is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004746 name: Glomerular subendothelial electron-dense deposits def: "Electron dense deposits at the glomerular basement membrane," [HPO_CONTRIBUTOR:Eurenomics_ewuehl, PMID:20301598, PMID:30085237] comment: Subendothelial electron-dense deposits are a characteristic feature of dense-deposit disease. synonym: "Dense deposit disease" RELATED [] synonym: "Membranoproliferative glomerulonephritis type II" RELATED [] xref: SNOMEDCT_US:59479006 xref: UMLS:C0268743 is_a: HP:0030949 ! Glomerular deposits [Term] id: HP:0004749 name: Atrial flutter def: "A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit." [https://orcid.org/0000-0002-0736-9199] comment: Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent. xref: SNOMEDCT_US:5370000 xref: UMLS:C0004239 is_a: HP:0001692 ! Atrial arrhythmia [Term] id: HP:0004751 name: Paroxysmal ventricular tachycardia alt_id: HP:0005141 def: "Episodes of ventricular tachycardia that have a sudden onset and ending." [] synonym: "Episodes of ventricular tachycardia" EXACT [] xref: SNOMEDCT_US:66657009 xref: UMLS:C0030591 is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004752 name: Congenital atrioventricular dissociation def: "A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025299 is_a: HP:0011709 ! Atrioventricular dissociation [Term] id: HP:0004754 name: Permanent atrial fibrillation def: "Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent." [https://orcid.org/0000-0002-0736-9199, PMID:12860883] comment: The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic. synonym: "Chronic atrial fibrillation" RELATED [] xref: SNOMEDCT_US:426749004 xref: SNOMEDCT_US:440028005 xref: UMLS:C0694539 xref: UMLS:C2586056 is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004755 name: Supraventricular tachycardia def: "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular. synonym: "Supraventricular tachyarrhythmia" EXACT [] synonym: "SVT" EXACT abbreviation [] xref: SNOMEDCT_US:6456007 xref: UMLS:C0039240 xref: UMLS:C1698480 is_a: HP:0001649 ! Tachycardia is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0004756 name: Ventricular tachycardia def: "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)." [] comment: Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease. xref: Fyler:7160 xref: SNOMEDCT_US:25569003 xref: UMLS:C0042514 is_a: HP:0001649 ! Tachycardia [Term] id: HP:0004757 name: Paroxysmal atrial fibrillation def: "Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously." [https://orcid.org/0000-0002-0736-9199, PMID:30571060] synonym: "Atrial fibrillation, paroxysmal" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Intermittent atrial fibrillation" EXACT [] synonym: "Paroxysmal AF" EXACT abbreviation [] xref: SNOMEDCT_US:282825002 xref: UMLS:C0235480 is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004758 name: Effort-induced polymorphic ventricular tachycardia def: "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration." [PMID:15913575] synonym: "Catecholaminergic polymorphic ventricular tachycardia" EXACT [] synonym: "Exercise-induced polymorphic ventricular tachycardia" EXACT [] xref: UMLS:C4025298 is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004759 name: obsolete Nodular calcific aortic valve disease is_obsolete: true consider: HP:0004380 [Term] id: HP:0004760 name: obsolete Congenital septal defect is_obsolete: true consider: HP:0001671 [Term] id: HP:0004761 name: Post-angioplasty coronary artery restenosis xref: UMLS:C2676505 is_a: HP:0001677 ! Coronary artery atherosclerosis [Term] id: HP:0004762 name: Hypoplasia of right ventricle alt_id: HP:0004951 def: "Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells." [MP:0010422] synonym: "Heart right ventricle hypoplasia" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Small right heart chamber" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Underdeveloped right heart chamber" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: Fyler:1821 xref: UMLS:C4082954 is_a: HP:0001707 ! Abnormal right ventricle morphology [Term] id: HP:0004763 name: Paroxysmal supraventricular tachycardia alt_id: HP:0004765 def: "An episodic form of supraventricular tachycardia with abrupt onset and termination." [PMID:18025404] comment: PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). synonym: "Episodic rapid heart beat" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Episodic supraventricular tachycardia" EXACT [] synonym: "PSVT" EXACT abbreviation [] xref: SNOMEDCT_US:67198005 xref: UMLS:C0030590 xref: UMLS:C4280507 is_a: HP:0004755 ! Supraventricular tachycardia [Term] id: HP:0004764 name: Myxomatous mitral valve degeneration def: "Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view." [https://orcid.org/0000-0002-0736-9199, PMID:21143934] xref: SNOMEDCT_US:253395003 xref: SNOMEDCT_US:42069006 xref: UMLS:C0264885 is_a: HP:0001634 ! Mitral valve prolapse [Term] id: HP:0004768 name: Sparse anterior scalp hair def: "Decreased number of head hairs per unit area on the anterior region of the scalp." [https://orcid.org/0000-0002-0736-9199] synonym: "Sparse scalp hair at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin scalp hair at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1866246 is_a: HP:0000599 ! Abnormality of the frontal hairline is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004771 name: Premature graying of body hair synonym: "Premature graying of body hair" EXACT layperson [] synonym: "Premature greying of body hair" EXACT uk_spelling [] xref: UMLS:C1849125 is_a: HP:0002216 ! Premature graying of hair [Term] id: HP:0004779 name: Brittle scalp hair alt_id: HP:0004776 def: "Fragile, easily breakable scalp hair." [https://orcid.org/0000-0003-1773-4011] synonym: "Brittle scalp hair" EXACT layperson [] xref: UMLS:C4025296 is_a: HP:0002299 ! Brittle hair [Term] id: HP:0004780 name: Elbow hypertrichosis def: "Excessive, increased hair growth located in the elbow region." [https://orcid.org/0000-0002-0736-9199] synonym: "Hairy elbow" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Hairy elbow syndrome" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Hypertrichosis cubiti" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Pilosity of elbow" EXACT [PMID:32005960] xref: UMLS:C4025295 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004782 name: obsolete Hypotrichosis of the scalp is_obsolete: true replaced_by: HP:0002209 [Term] id: HP:0004783 name: Duodenal polyposis def: "Presence of multiple polyps in the duodenum." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple duodenal polyps" EXACT [] xref: SNOMEDCT_US:301797007 xref: UMLS:C0578477 is_a: HP:0030256 ! Small intestinal polyposis [Term] id: HP:0004784 name: Juvenile gastrointestinal polyposis def: "The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps." [https://orcid.org/0000-0002-0736-9199, PMID:25022750] synonym: "Juvenile GI polyposis" EXACT abbreviation [] xref: UMLS:C4025294 is_a: HP:0004390 ! Hamartomatous polyposis [Term] id: HP:0004785 name: Malrotation of colon def: "An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:6477005 xref: UMLS:C0266196 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004786 name: Jejunal diverticula xref: UMLS:C4025293 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004787 name: Fulminant hepatitis def: "Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice." [https://orcid.org/0000-0002-0736-9199, PMID:18825677] comment: Note that different definitions of fulminant hepatitis are used in the medical literature. xref: SNOMEDCT_US:427044009 xref: UMLS:C0302809 is_a: HP:0004448 ! Fulminant hepatic failure is_a: HP:0012115 ! Hepatitis [Term] id: HP:0004788 name: Intestinal lymphedema def: "Fluid retention and edema in the intestine caused by a compromised lymphatic system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025292 is_a: HP:0001004 ! Lymphedema is_a: HP:0005225 ! Intestinal edema [Term] id: HP:0004789 name: Lactose intolerance def: "An inability to digest lactose." [https://orcid.org/0000-0002-0736-9199] synonym: "Lactose intolerance" EXACT layperson [] synonym: "Milk intolerance" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:267425008 xref: SNOMEDCT_US:700094005 xref: UMLS:C0022951 is_a: HP:0002024 ! Malabsorption [Term] id: HP:0004790 name: Hypoplasia of the small intestine def: "Underdevelopment of the small intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped small intestine" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025291 is_a: HP:0002244 ! Abnormal small intestine morphology is_a: HP:0005245 ! Intestinal hypoplasia [Term] id: HP:0004791 name: Esophageal ulceration def: "Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus." [https://orcid.org/0000-0002-0736-9199] synonym: "Esophagus ulcer" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Oesophagus ulcer" EXACT uk_spelling [] synonym: "Oesophagus ulceration" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:30811009 xref: UMLS:C0151970 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0034274 ! Gastrointestinal ulcer [Term] id: HP:0004792 name: Rectoperineal fistula def: "The presence of a fistula between the perineum and the rectum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0240880 is_a: HP:0004871 ! Perineal fistula is_a: HP:0100590 ! Rectal fistula [Term] id: HP:0004794 name: Malrotation of small bowel def: "A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel." [https://orcid.org/0000-0002-0736-9199] comment: Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus. synonym: "Malrotation of the small intestine" EXACT [] xref: UMLS:C1860244 is_a: HP:0002244 ! Abnormal small intestine morphology is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004795 name: Hamartomatous stomach polyps def: "Polyp-like protrusions which are histologically hamartomas located in the stomach." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1862304 is_a: HP:0004390 ! Hamartomatous polyposis is_a: HP:0006753 ! Neoplasm of the stomach [Term] id: HP:0004796 name: Gastrointestinal obstruction synonym: "Gastrointestinal obstruction" EXACT layperson [] synonym: "GI obstruction" EXACT abbreviation [] synonym: "Obstruction in digestive tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:126765001 xref: UMLS:C0236124 is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0004797 name: Multiple small bowel atresias def: "The presence of multiple areas of atresia affecting the small intestine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857476 is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0004798 name: Recurrent infection of the gastrointestinal tract def: "Recurrent infection of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Gastrointestinal infections" RELATED layperson [] synonym: "Gastrointestinal infections, recurrent" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent gastrointestinal infections" EXACT layperson [] synonym: "Recurrent infection of the gastrointestinal tract" EXACT layperson [] synonym: "Recurrent infection of the GI tract" EXACT abbreviation [] xref: SNOMEDCT_US:715852004 xref: UMLS:C1854495 xref: UMLS:C4082764 is_a: HP:0002719 ! Recurrent infections is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0004799 name: Jejunoileal diverticula xref: UMLS:C4025290 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004800 name: Duodenal diverticula xref: SNOMEDCT_US:197083003 xref: UMLS:C0341266 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004802 name: Episodic hemolytic anemia def: "A form of hemolytic anemia that occurs in repeated episodes." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic hemolysis" EXACT [] synonym: "Episodic hemolytic anaemia" EXACT uk_spelling [] xref: UMLS:C1859495 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004804 name: Congenital hemolytic anemia alt_id: HP:0004811 alt_id: HP:0004824 def: "A form of hemolytic anemia with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital haemolytic anaemia" EXACT uk_spelling [] synonym: "Congenital haemolytic anemia" EXACT [] synonym: "Congenital hemolytic anaemia" EXACT uk_spelling [] synonym: "Neonatal hemolytic anaemia" RELATED uk_spelling [] synonym: "Neonatal hemolytic anemia" RELATED [] xref: SNOMEDCT_US:38911009 xref: SNOMEDCT_US:42601008 xref: UMLS:C0002881 xref: UMLS:C4020827 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004808 name: Acute myeloid leukemia alt_id: HP:0001914 alt_id: HP:0004843 alt_id: HP:0005516 alt_id: HP:0006724 alt_id: HP:0006728 def: "A form of leukemia characterized by overproduction of an early myeloid cell." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute myeloblastic leukaemia" EXACT uk_spelling [] synonym: "Acute myeloblastic leukemia" EXACT [] synonym: "Acute myelocytic leukaemia" EXACT uk_spelling [] synonym: "Acute myelocytic leukemia" EXACT [] synonym: "Acute myelogenous leukaemia" EXACT uk_spelling [] synonym: "Acute myelogenous leukemia" EXACT [] synonym: "Acute myeloid leukaemia" EXACT uk_spelling [] synonym: "AML" EXACT abbreviation [] xref: SNOMEDCT_US:17788007 xref: SNOMEDCT_US:413443009 xref: SNOMEDCT_US:91861009 xref: UMLS:C0023467 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004809 name: Neonatal alloimmune thrombocytopenia def: "Low platelet count associated with maternal platelet-specific alloantibodies." [https://orcid.org/0000-0002-0736-9199] comment: Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies. xref: SNOMEDCT_US:240305000 xref: UMLS:C3853779 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004810 name: Congenital hypoplastic anemia alt_id: HP:0005545 def: "A type of hypoplastic anemia with congenital onset." [https://orcid.org/0000-0002-0736-9199] comment: In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature. synonym: "Congenital dyserythropoietic anaemia" EXACT uk_spelling [] synonym: "Congenital dyserythropoietic anemia" EXACT [] synonym: "Congenital hypoplastic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:234371002 xref: SNOMEDCT_US:52951008 xref: SNOMEDCT_US:88854002 xref: UMLS:C0002876 xref: UMLS:C1260899 is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004812 name: B Acute Lymphoblastic Leukemia def: "A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood." [NCIT:C8644] synonym: "B Acute Lymphoblastic Leukaemia" EXACT uk_spelling [] synonym: "Pre-B-cell acute lymphoblastic leukaemia" EXACT uk_spelling [] synonym: "Pre-B-cell acute lymphoblastic leukemia" EXACT [] is_a: HP:0006721 ! Acute lymphoblastic leukemia [Term] id: HP:0004813 name: Post-transfusion thrombocytopenia def: "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages." [https://orcid.org/0000-0002-4381-2442] comment: Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy. synonym: "Post-transfusion purpura" RELATED [] xref: SNOMEDCT_US:73162004 xref: UMLS:C0398648 xref: UMLS:C1868252 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004814 name: Fava bean-induced hemolytic anemia def: "A kind of hemolytic anemia that is induced by the ingestion of fava beans." [https://orcid.org/0000-0002-0736-9199] comment: Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compounds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations. synonym: "Fava bean-induced hemolytic anaemia" EXACT uk_spelling [] synonym: "Hemolytic anaemia following ingestion of fava beans" EXACT uk_spelling [] synonym: "Hemolytic anemia following ingestion of fava beans" EXACT [] xref: UMLS:C4021648 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004817 name: Drug-sensitive hemolytic anemia def: "A form of hemolytic anemia that is triggered by ingestion of certain drugs." [https://orcid.org/0000-0002-0736-9199] synonym: "Drug-sensitive hemolytic anaemia" EXACT uk_spelling [] xref: UMLS:C4025289 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004818 name: Paroxysmal nocturnal hemoglobinuria synonym: "Paroxysmal nocturnal haemoglobinuria" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:1963002 xref: UMLS:C0024790 is_a: HP:0003641 ! Hemoglobinuria [Term] id: HP:0004819 name: Normocytic hypoplastic anemia def: "A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)." [https://orcid.org/0000-0002-0736-9199] synonym: "Normocytic hypoplastic anaemia" EXACT uk_spelling [] xref: UMLS:C1835875 is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004820 name: Acute myelomonocytic leukemia def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors." [NCIT:C7463] synonym: "Acute myelomonocytic leukaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:110005000 xref: SNOMEDCT_US:277601005 xref: SNOMEDCT_US:30962008 xref: UMLS:C0023479 is_a: HP:0002488 ! Acute leukemia is_a: HP:0012324 ! Myeloid leukemia [Term] id: HP:0004821 name: Hypersegmentation of neutrophil nuclei def: "An excessive division of the lobes of the nucleus of a neutrophil." [https://orcid.org/0000-0002-0736-9199] comment: Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies. synonym: "Hypermature neutrophils" EXACT [] synonym: "Hypersegmentation of neutrophil nuclei in peripheral blood" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-8169-9049] xref: UMLS:C4025288 is_a: HP:0011992 ! Abnormal neutrophil morphology [Term] id: HP:0004822 name: Atypical elliptocytosis xref: UMLS:C1857010 is_a: HP:0004445 ! Elliptocytosis [Term] id: HP:0004823 name: Anisopoikilocytosis def: "A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2675920 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004825 name: Increased hemoglobin oxygen affinity def: "An abnormal increase in the binding affinity of hemoglobin for oxygen." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased haemoglobin O2 affinity" EXACT uk_spelling [] synonym: "Increased Hb O2 affinity" EXACT abbreviation [] synonym: "Increased Hb oxygen affinity" EXACT abbreviation [] synonym: "Increased hemoglobin O2 affinity" EXACT abbreviation [] synonym: "Increased hemoglobin oxygen affinity" EXACT [] xref: UMLS:C4021647 is_a: HP:0020054 ! Abnormal erythrocyte physiology [Term] id: HP:0004826 name: Folate-unresponsive megaloblastic anemia def: "A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Folate-unresponsive megaloblastic anaemia" EXACT uk_spelling [] xref: UMLS:C4025287 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004828 name: Refractory anemia with ringed sideroblasts def: "A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts." [https://orcid.org/0000-0002-0736-9199] synonym: "Myelodysplasia with sideroblastosis" EXACT [] synonym: "Refractory anaemia with ringed sideroblasts" EXACT uk_spelling [] xref: ICD-O:M9982/3 "Refractory anemia with ringed sideroblasts" xref: SNOMEDCT_US:109998009 xref: SNOMEDCT_US:128846006 xref: UMLS:C1264195 is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology is_a: HP:0012150 ! Single lineage myelodysplasia [Term] id: HP:0004831 name: Recurrent thromboembolism def: "Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent thromboembolic disease" RELATED [] xref: UMLS:C0749398 xref: UMLS:C4025286 is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0004835 name: Microspherocytosis def: "The presence of erythrocytes that are sphere-shaped and reduced in size." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025285 is_a: HP:0004444 ! Spherocytosis [Term] id: HP:0004836 name: Acute promyelocytic leukemia def: "A type of acute myeloid leukemia in which abnormal promyelocytes predominate." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute promyelocytic leukaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:110004001 xref: SNOMEDCT_US:28950004 xref: UMLS:C0023487 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004839 name: Pyropoikilocytosis alt_id: HP:0004805 def: "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn." [https://orcid.org/0000-0002-0736-9199, PMID:16304353] synonym: "hereditary pyropoikilocytosis" EXACT [] xref: SNOMEDCT_US:9434008 xref: UMLS:C0520739 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004840 name: Hypochromic microcytic anemia alt_id: HP:0004842 def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypochromic microcytic anaemia" EXACT uk_spelling [] synonym: "Hypochromic, microcytic anaemia" EXACT uk_spelling [] synonym: "Hypochromic, microcytic anemia" EXACT [] xref: SNOMEDCT_US:44666001 xref: UMLS:C0271901 is_a: HP:0001931 ! Hypochromic anemia is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004841 name: Reduced factor XII activity alt_id: HP:0005514 alt_id: HP:0005551 alt_id: HP:0008286 def: "Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade." [https://orcid.org/0000-0002-0736-9199] synonym: "Factor XII deficiency" EXACT [] synonym: "Hageman factor deficiency" EXACT [] xref: SNOMEDCT_US:46981006 xref: UMLS:C0015526 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0004844 name: Coombs-positive hemolytic anemia alt_id: HP:0003539 def: "A type of hemolytic anemia in which the Coombs test is positive." [https://orcid.org/0000-0002-0736-9199] comment: The Coombs test measures a coating of immunoglobulin or complement on the red cell surface. synonym: "Coombs-positive hemolytic anaemia" EXACT uk_spelling [] synonym: "Direct Coombs positive" EXACT [] xref: SNOMEDCT_US:74789008 xref: UMLS:C0520736 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004845 name: Acute monocytic leukemia alt_id: HP:0004833 def: "The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation." [PMID:24904835] synonym: "Acute monoblastic leukaemia" EXACT uk_spelling [] synonym: "Acute monoblastic leukemia" EXACT [] synonym: "Acute monocytic leukaemia" EXACT uk_spelling [] synonym: "AML-M5" EXACT abbreviation [] synonym: "AMoL" EXACT abbreviation [] xref: SNOMEDCT_US:22331004 xref: SNOMEDCT_US:413441006 xref: UMLS:C0023465 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004846 name: Prolonged bleeding after surgery def: "Bleeding that persists longer than the normal time following a surgical procedure." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive bleeding during surgery" EXACT layperson [] synonym: "Prolonged bleeding after surgery" EXACT layperson [] synonym: "Protracted bleeding after surgery" EXACT layperson [] xref: UMLS:C4021646 is_a: HP:0011890 ! Prolonged bleeding following procedure [Term] id: HP:0004848 name: Ph-positive acute lymphoblastic leukemia def: "A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity." [PMID:21472706] synonym: "Ph-positive acute lymphoblastic leukaemia" EXACT uk_spelling [] synonym: "Philadelphia-positive acute lymphoblastic leukaemia" EXACT uk_spelling [] synonym: "Philadelphia-positive acute lymphoblastic leukemia" EXACT [] xref: SNOMEDCT_US:425688002 xref: SNOMEDCT_US:426955004 xref: UMLS:C1960397 is_a: HP:0006721 ! Acute lymphoblastic leukemia [Term] id: HP:0004850 name: Recurrent deep vein thrombosis def: "Repeated episodes of the formation of a blot clot in a deep vein." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent deep vein blood clot" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Recurrent venous thrombosis" EXACT [] xref: SNOMEDCT_US:710167004 xref: UMLS:C1735901 is_a: HP:0002625 ! Deep venous thrombosis [Term] id: HP:0004851 name: Folate-responsive megaloblastic anemia def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate." [https://orcid.org/0000-0002-0736-9199] synonym: "Folate-responsive megaloblastic anaemia" EXACT uk_spelling [] xref: UMLS:C2749656 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004852 name: Reduced leukocyte alkaline phosphatase def: "Decreased alkaline phosphatase measured within leukocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Low leukocyte alkaline phosphatase" EXACT [] synonym: "Reduced leukocyte ALP" EXACT abbreviation [] xref: UMLS:C1850780 is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity [Term] id: HP:0004854 name: Intermittent thrombocytopenia def: "Reduced platelet count that occurs sporadically, i.e., it comes and goes." [https://orcid.org/0000-0002-0736-9199, PMID:8384898] xref: UMLS:C1839167 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004855 name: Reduced protein S activity def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C." [https://orcid.org/0000-0002-0736-9199] comment: Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis. synonym: "Protein S deficiency" NARROW [] xref: SNOMEDCT_US:1563006 xref: UMLS:C0242666 xref: UMLS:C4025284 is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway [Term] id: HP:0004856 name: Normochromic microcytic anemia def: "A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Normochromic microcytic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:4984008 xref: UMLS:C0271902 is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004857 name: Hyperchromic macrocytic anemia def: "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperchromic macrocytic anaemia" EXACT uk_spelling [] xref: UMLS:C3854594 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004859 name: Amegakaryocytic thrombocytopenia def: "Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:234482009 xref: UMLS:C0398639 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004860 name: Thiamine-responsive megaloblastic anemia def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine." [https://orcid.org/0000-0002-0736-9199] synonym: "Thiamine-responsive megaloblastic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:12907000 xref: UMLS:C0271972 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004861 name: Refractory macrocytic anemia synonym: "Refractory macrocytic anaemia" EXACT uk_spelling [] xref: UMLS:C2675059 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004863 name: Compensated hemolytic anemia synonym: "Compensated hemolytic anaemia" EXACT uk_spelling [] xref: UMLS:C4025283 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004864 name: Elevated bone marrow ring sideroblast count def: "Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts." [https://orcid.org/0000-0002-0736-9199, PMID:30725758, PMID:33061728] comment: Sideroblastic anemia includes a group of inherited and acquired anemias of ineffective erythropoiesis characterized by an accumulation of ring sideroblasts in the bone marrow and decreased production of mature red blood cells. Additionally, refractory anemia with ring sideroblasts is a type of myelodysplastic syndrome that is characterized by anemia and the presence of at least 15 percent ring sideroblasts in the marrow. synonym: "Refractory sideroblastic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:41841004 xref: UMLS:C0002896 is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology [Term] id: HP:0004866 name: Impaired ADP-induced platelet aggregation def: "Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP." [https://orcid.org/0000-0002-0736-9199, PMID:11413156] xref: UMLS:C4025282 is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0004870 name: Chronic hemolytic anemia alt_id: HP:0004815 def: "An chronic form of hemolytic anemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic hemolytic anaemia" EXACT uk_spelling [] synonym: "hemolytic anemia, chronic" EXACT [] xref: SNOMEDCT_US:707480001 xref: UMLS:C1387532 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004871 name: Perineal fistula def: "The presence of a fistula between the bowel and the perineum." [https://orcid.org/0000-0002-0736-9199] comment: The perineum is the diamond-shaped region of the body between the pubic arch and the anus. xref: SNOMEDCT_US:284077005 xref: UMLS:C0561921 is_a: HP:0100589 ! Urogenital fistula [Term] id: HP:0004872 name: Incisional hernia def: "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent abdominal hernia" EXACT [] xref: SNOMEDCT_US:236037000 xref: SNOMEDCT_US:241556001 xref: UMLS:C0267716 xref: UMLS:C4021645 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0004875 name: Neonatal inspiratory stridor xref: UMLS:C4025281 is_a: HP:0002643 ! Neonatal respiratory distress is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004876 name: Spontaneous neonatal pneumothorax def: "Pneumothorax occurring neonatally without traumatic injury to the chest or lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Neonatal pneumothorax" EXACT [] xref: UMLS:C1857021 is_a: HP:0002108 ! Spontaneous pneumothorax [Term] id: HP:0004878 name: Intercostal muscle weakness def: "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall." [https://orcid.org/0000-0002-0736-9199] synonym: "Dependence on diaphragmatic breathing" RELATED [] synonym: "Muscle weakness between ribs" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C0240017 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004879 name: Intermittent hyperventilation def: "Episodic hyperventilation." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic hyperventilation" EXACT [] synonym: "Intermittent overbreathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:423427003 xref: UMLS:C1828017 is_a: HP:0002883 ! Hyperventilation [Term] id: HP:0004880 name: Respiratory infections in early life def: "Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections." [] xref: UMLS:C4025280 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004881 name: Episodic hypoventilation synonym: "Episodic slow breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Episodic under breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1844946 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0004885 name: Episodic respiratory distress synonym: "Episodic difficulty breathing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "respiratory distress, episodic" EXACT [] xref: UMLS:C1844945 is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0004886 name: Congenital laryngeal stridor xref: SNOMEDCT_US:55490007 xref: UMLS:C0265763 is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004887 name: Respiratory failure requiring assisted ventilation alt_id: HP:0004883 def: "A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation." [https://orcid.org/0000-0002-7440-8864, PMID:18710593, PMID:28620428] synonym: "Respiratory distress necessitating mechanical ventilation" EXACT [] synonym: "Respiratory distress requiring endotracheal intubation" EXACT [] synonym: "Respiratory distress requiring mechanical ventilation" EXACT [] xref: UMLS:C4025279 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004889 name: Intermittent episodes of respiratory insufficiency due to muscle weakness xref: UMLS:C3807025 is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004890 name: Elevated pulmonary artery pressure alt_id: HP:0004958 def: "An abnormally elevated blood pressure in the circulation of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated lung artery pressure" EXACT [] synonym: "increased pulmonary artery pressure" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3805917 is_a: HP:0030875 ! Abnormality of pulmonary circulation [Term] id: HP:0004891 name: Recurrent infections due to aspiration def: "Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration." [] xref: UMLS:C3806285 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004894 name: Laryngotracheal stenosis xref: UMLS:C3806280 is_a: HP:0001602 ! Laryngeal stenosis is_a: HP:0002777 ! Tracheal stenosis [Term] id: HP:0004897 name: Stress/infection-induced lactic acidosis def: "A form of lactic acidemia that occurs in relation to stress or infection." [https://orcid.org/0000-0002-0736-9199] synonym: "Metabolic crises during febrile infections" RELATED [] xref: UMLS:C4025278 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004898 name: Persistent lactic acidosis def: "A continuous form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3554538 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004900 name: Severe lactic acidosis def: "A severe form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1839436 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004901 name: Exercise-induced lactic acidemia def: "A form of lactic acidemia that occurs following exercise or exertion." [https://orcid.org/0000-0002-0736-9199, PMID:15308499] synonym: "Exercise-induced lactic acidosis" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025277 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004902 name: Congenital lactic acidosis def: "A form of lactic acidemia with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025276 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004904 name: Maturity-onset diabetes of the young def: "The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells." [https://orcid.org/0000-0002-0736-9199] synonym: "Maturity onset diabetes of the young" EXACT [] synonym: "MODY" RELATED abbreviation [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:609561005 xref: UMLS:C0342276 is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0004905 name: Reduced circulating vitamin A concentration def: "Concentration of vitamin A below the lower limit of normal in the blood circulation." [] synonym: "Low levels of vitamin A" EXACT [] synonym: "Vitamin A deficiency" EXACT layperson [] xref: SNOMEDCT_US:72000004 xref: UMLS:C0042842 is_a: HP:0008372 ! Abnormal circulating vitamin A concentration [Term] id: HP:0004906 name: Hypernatremic dehydration xref: SNOMEDCT_US:427784006 xref: UMLS:C1850544 is_a: HP:0001986 ! Hypertonic dehydration [Term] id: HP:0004909 name: Hypokalemic hypochloremic metabolic alkalosis xref: UMLS:C0740896 is_a: HP:0001960 ! Hypokalemic metabolic alkalosis is_a: HP:0005977 ! Hypochloremic metabolic alkalosis [Term] id: HP:0004910 name: Bicarbonate-wasting renal tubular acidosis synonym: "HCO3-wasting renal tubular acidosis" EXACT abbreviation [] synonym: "Renal bicarbonate wasting" EXACT [] xref: UMLS:C1858626 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0004911 name: Episodic metabolic acidosis alt_id: HP:0005963 def: "Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent episodes of acidosis" EXACT [] xref: UMLS:C1859516 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004912 name: Hypophosphatemic rickets xref: SNOMEDCT_US:66266003 xref: UMLS:C1704375 is_a: HP:0002148 ! Hypophosphatemia is_a: HP:0002748 ! Rickets [Term] id: HP:0004913 name: Intermittent lactic acidemia def: "An intermittent (discontinuous) form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1844917 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004914 name: Recurrent infantile hypoglycemia alt_id: HP:0004917 def: "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic infantile hypoglycemia" EXACT [] synonym: "Recurrent low blood sugar in infant" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021644 is_a: HP:0001988 ! Recurrent hypoglycemia [Term] id: HP:0004915 name: Impairment of galactose metabolism def: "An impairment of galactose metabolism." [https://orcid.org/0000-0002-0736-9199] synonym: "Impaired galactose metabolism" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4021643 is_a: HP:0032245 ! Abnormal metabolism [Term] id: HP:0004916 name: Generalized distal tubular acidosis synonym: "Generalised distal tubular acidosis" EXACT uk_spelling [] xref: UMLS:C4025275 is_a: HP:0008341 ! Distal renal tubular acidosis [Term] id: HP:0004918 name: Hyperchloremic metabolic acidosis def: "A form of metabolic acidosis with increased serum chloride levels." [PMID:31418093] synonym: "Non-gap acidosis" EXACT [] xref: UMLS:C1969073 is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0001995 ! Hyperchloremic acidosis [Term] id: HP:0004919 name: Galactose intolerance xref: SNOMEDCT_US:190745006 xref: SNOMEDCT_US:190749000 xref: UMLS:C0016952 is_a: HP:0004915 ! Impairment of galactose metabolism [Term] id: HP:0004920 name: Phenylpyruvic acidemia xref: UMLS:C1849926 is_a: HP:0032368 ! Acidemia [Term] id: HP:0004921 name: Abnormal magnesium concentration alt_id: HP:0008274 def: "An abnormality of magnesium ion homeostasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal magnesium metabolism" RELATED [] synonym: "Abnormal Mg concentration" EXACT abbreviation [] synonym: "Abnormality of magnesium homeostasis" EXACT [] xref: UMLS:C4020826 xref: UMLS:C4025274 is_a: HP:0010927 ! Abnormal blood inorganic cation concentration [Term] id: HP:0004922 name: Atypical hyperphenylalaninemia xref: UMLS:C4025273 is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration [Term] id: HP:0004923 name: Hyperphenylalaninemia def: "An increased concentration of L-phenylalanine in the blood." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:68528007 xref: UMLS:C0751435 is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration [Term] id: HP:0004924 name: Abnormal oral glucose tolerance def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal glucose oral tolerance test" EXACT [] xref: UMLS:C1847425 is_a: HP:0040270 ! Impaired glucose tolerance [Term] id: HP:0004925 name: Chronic lactic acidosis alt_id: HP:0004899 def: "A chronic form of lactic acidemia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1839437 is_a: HP:0003128 ! Lactic acidosis is_a: HP:0012468 ! Chronic acidosis [Term] id: HP:0004926 name: Orthostatic hypotension due to autonomic dysfunction xref: UMLS:C1868528 is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0004927 name: Pulmonary artery dilatation def: "An abnormal widening of the diameter of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:251047005 xref: UMLS:C0428851 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004928 name: obsolete Peripheral arterial stenosis is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0004929 name: obsolete Coronary atherosclerosis is_obsolete: true replaced_by: HP:0001677 [Term] id: HP:0004930 name: Abnormality of the pulmonary vasculature synonym: "Abnormality of the lung blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025271 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0002597 ! Abnormality of the vasculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:07:00Z [Term] id: HP:0004931 name: Arteriosclerosis of small cerebral arteries def: "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Hardened artery wall in small cerebral arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025270 xref: UMLS:C4280505 is_a: HP:0002634 ! Arteriosclerosis is_a: HP:0009145 ! Abnormal cerebral artery morphology [Term] id: HP:0004933 name: Ascending aortic dissection def: "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [https://orcid.org/0000-0002-0736-9199] comment: According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. synonym: "Type A aortic dissection" EXACT [] xref: UMLS:C1836653 is_a: HP:0002647 ! Aortic dissection is_a: HP:0031784 ! Abnormal ascending aorta morphology [Term] id: HP:0004934 name: Vascular calcification def: "Abnormal calcification of the vasculature." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:237897009 xref: UMLS:C0342649 is_a: HP:0011915 ! Cardiovascular calcification is_a: HP:0033353 ! Abnormal blood vessel morphology [Term] id: HP:0004935 name: Pulmonary artery atresia def: "A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] comment: Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. synonym: "Atresia of the pulmonary artery" EXACT [] synonym: "Pulmonary atresia" EXACT [] xref: SNOMEDCT_US:10930001 xref: SNOMEDCT_US:204443008 xref: UMLS:C0265908 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004936 name: Venous thrombosis def: "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in vein" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:111293003 xref: UMLS:C0042487 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0004937 name: Pulmonary artery aneurysm def: "An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:194892009 xref: UMLS:C0155676 is_a: HP:0004927 ! Pulmonary artery dilatation [Term] id: HP:0004938 name: Tortuous cerebral arteries def: "Excessive bending, twisting, and winding of a cerebral artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Twisted cerebral arteries" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1836791 is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0009145 ! Abnormal cerebral artery morphology [Term] id: HP:0004940 name: Generalized arterial calcification alt_id: HP:0004967 def: "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised arterial calcification" EXACT uk_spelling [] xref: UMLS:C4025269 is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004941 name: Extrahepatic portal hypertension def: "Increased pressure in the pre-hepatic portal vein." [https://orcid.org/0000-0002-0736-9199] comment: Hypertension in the portal venous tree proper. previous def: 'has part' some ('increased pressure' and ('inheres in' some ('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal)) xref: UMLS:C4025268 is_a: HP:0001409 ! Portal hypertension [Term] id: HP:0004942 name: Aortic aneurysm alt_id: HP:0001724 def: "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter." [] comment: Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangeably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym. synonym: "Aortic dilatation" EXACT [] synonym: "Bulge in wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Enlarged aorta" EXACT layperson [] xref: Fyler:2301 xref: Fyler:2708 xref: SNOMEDCT_US:67362008 xref: UMLS:C0003486 is_a: HP:0001679 ! Abnormal aortic morphology is_a: HP:0002617 ! Vascular dilatation [Term] id: HP:0004943 name: Accelerated atherosclerosis def: "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors." [PMID:29040156] synonym: "Accelerated plaque build-up in arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849618 xref: UMLS:C4280504 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0004944 name: Dilatation of the cerebral artery alt_id: HP:0002618 alt_id: HP:0006816 def: "The presence of a localized dilatation or ballooning of a cerebral artery." [https://orcid.org/0000-0002-0736-9199] comment: Aneurysm is considered a severe form of dilatation. synonym: "Brain aneurysm" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Cerebral aneurysm" NARROW [] synonym: "Cerebral artery aneurysm" NARROW [] synonym: "Intracranial aneurysm" BROAD [] xref: SNOMEDCT_US:128608001 xref: UMLS:C0751003 xref: UMLS:C1290398 is_a: HP:0002617 ! Vascular dilatation is_a: HP:0009145 ! Abnormal cerebral artery morphology [Term] id: HP:0004945 name: Extracranial internal carotid artery dissection def: "A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025267 is_a: HP:0005294 ! Arterial dissection is_a: HP:0012159 ! Internal carotid artery dissection [Term] id: HP:0004947 name: Arteriovenous fistula alt_id: HP:0004946 def: "An abnormal connection between an artery and vein." [https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567] synonym: "Arteriovenous fistulas" EXACT [] xref: SNOMEDCT_US:128617001 xref: SNOMEDCT_US:439470001 xref: UMLS:C0003855 is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0004948 name: Vascular tortuosity def: "Abnormal twisting of arteries or veins." [PMID:22433458] synonym: "Twisted blood vessels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C2673776 is_a: HP:0033353 ! Abnormal blood vessel morphology [Term] id: HP:0004950 name: Peripheral arterial stenosis alt_id: HP:0004928 alt_id: HP:0004973 alt_id: HP:0005296 alt_id: HP:0005299 alt_id: HP:0005309 alt_id: HP:0005315 alt_id: HP:0005794 def: "Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication." [] comment: The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease. synonym: "Arterial disease of legs" RELATED [] synonym: "Occlusive arterial disease" RELATED [] synonym: "Occlusive vascular disease" RELATED [] synonym: "Peripheral artery disease" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Peripheral artery occlusive disease" RELATED [] synonym: "Peripheral vascular disease" RELATED [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:399957001 xref: SNOMEDCT_US:400047006 xref: UMLS:C0085096 xref: UMLS:C1704436 is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0004952 name: Pulmonary arteriovenous fistulas def: "A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed." [PMID:27122941] xref: SNOMEDCT_US:111289009 xref: UMLS:C0155675 is_a: HP:0004947 ! Arteriovenous fistula [Term] id: HP:0004953 name: obsolete Dilatation of abdominal aorta is_obsolete: true replaced_by: HP:0005112 [Term] id: HP:0004954 name: obsolete Dilatation of the descending aorta is_obsolete: true replaced_by: HP:0004959 [Term] id: HP:0004955 name: Generalized arterial tortuosity def: "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries." [https://orcid.org/0000-0002-0736-9199] synonym: "Arterial tortuosity, general" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Arterial tortuosity, generalised" RELATED uk_spelling [] synonym: "Arterial tortuosity, generalized" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Generalised arterial tortuosity" EXACT uk_spelling [] synonym: "Generalised twisted arteries" EXACT uk_spelling [] synonym: "Generalized twisted arteries" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1836651 xref: UMLS:C3279191 is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0004959 name: Descending thoracic aorta aneurysm alt_id: HP:0004954 def: "An abnormal localized widening (dilatation) of the descending thoracic aorta." [] synonym: "Dilatation of the descending thoracic aorta" BROAD [] xref: Fyler:2754 xref: UMLS:C4025266 is_a: HP:0012727 ! Thoracic aortic aneurysm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:32:00Z [Term] id: HP:0004960 name: Absent pulmonary artery def: "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery." [https://orcid.org/0000-0002-0736-9199, PMID:17192541] comment: This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP. synonym: "Absent lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Missing pulmonary artery" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:86252004 xref: UMLS:C0265905 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004961 name: Pulmonary artery sling def: "An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:16549603, PMID:18458183] xref: UMLS:C1856123 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004962 name: Thoracic aorta calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1969292 is_a: HP:0004963 ! Calcification of the aorta [Term] id: HP:0004963 name: Calcification of the aorta def: "Calcification, that is, pathological deposition of calcium salts in the aorta." [https://orcid.org/0000-0002-0736-9199] comment: Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself. xref: UMLS:C1096249 is_a: HP:0001679 ! Abnormal aortic morphology is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004964 name: Pulmonary arterial medial hypertrophy alt_id: HP:0004939 def: "Increase in mass of the tunica media of the arteries in the pulmonary circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypertrophy of the pulmonary artery wall" EXACT [] xref: UMLS:C1504382 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004966 name: Medial calcification of large arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries." [https://orcid.org/0000-0002-0736-9199] comment: GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 xref: UMLS:C4025265 is_a: HP:0012456 ! Medial arterial calcification [Term] id: HP:0004968 name: Recurrent cerebral hemorrhage def: "Recurrent bleeding into the parenchyma of the brain." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Recurrent cerebral haemorrhage" EXACT uk_spelling [] synonym: "Recurrent hemorrhagic stroke" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025264 is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0004969 name: Peripheral pulmonary artery stenosis alt_id: HP:0004957 def: "Stenosis of a peripheral branch of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of peripheral lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Occlusion of small pulmonary arteries" RELATED [] synonym: "peripheral pulmonary stenosis" EXACT [] synonym: "Peripheral pulmonic stenosis" EXACT [] xref: SNOMEDCT_US:253631001 xref: UMLS:C0345030 is_a: HP:0004415 ! Pulmonary artery stenosis [Term] id: HP:0004970 name: Ascending tubular aorta aneurysm alt_id: HP:0005111 alt_id: HP:0005128 def: "An abnormal localized widening (dilatation) of the tubular part of the ascending aorta." [] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm of the ascending tubular aorta" EXACT [] synonym: "Ascending aorta dilation" BROAD [] synonym: "Ascending aortic aneurysm" EXACT [] synonym: "Ascending aortic dilation" EXACT [] synonym: "Bulging of wall of large artery located above heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Dilatation of ascending aorta" EXACT [] xref: Fyler:2310 xref: Fyler:2701 xref: SNOMEDCT_US:253645007 xref: UMLS:C0345049 is_a: HP:0012727 ! Thoracic aortic aneurysm [Term] id: HP:0004971 name: Pulmonary artery hypoplasia def: "Underdevelopment of the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped lung artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped pulmonary artery" EXACT [https://orcid.org/0000-0001-6908-9849] xref: Fyler:2966 xref: SNOMEDCT_US:54682008 xref: UMLS:C0265910 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004972 name: Elevated mean arterial pressure def: "An abnormal increase in the average blood pressure in an individual during a single cardiac cycle." [PMID:18451345] xref: UMLS:C1840376 is_a: HP:0032263 ! Increased blood pressure [Term] id: HP:0004974 name: Coarctation of abdominal aorta def: "Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025263 is_a: HP:0001680 ! Coarctation of aorta [Term] id: HP:0004975 name: Erlenmeyer flask deformity of the femurs alt_id: HP:0006422 def: "Flaring of distal femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Erlenmeyer flask deformity of distal femur" EXACT [] synonym: "Erlenmeyer flask femora" EXACT [] synonym: "Erlenmeyer flask shaped thighbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1855895 is_a: HP:0002823 ! Abnormal femur morphology [Term] id: HP:0004976 name: Knee dislocation alt_id: HP:0006469 synonym: "Dislocations of the knees" EXACT [] synonym: "Knee dislocations" EXACT [] xref: SNOMEDCT_US:58320001 xref: UMLS:C0159970 is_a: HP:0030311 ! Lower extremity joint dislocation is_a: HP:0034670 ! Abnormal knee physiology [Term] id: HP:0004977 name: Bilateral radial aplasia alt_id: HP:0005870 def: "Missing radius bone on both sides associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral absence of radius" EXACT [] xref: UMLS:C1848840 is_a: HP:0003974 ! Absent radius [Term] id: HP:0004979 name: Metaphyseal sclerosis def: "Abnormally increased density of metaphyseal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density in wide portion of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Sclerotic metaphyses" EXACT [] xref: UMLS:C3552526 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0004980 name: Metaphyseal rarefaction def: "Reduction in density of metaphyseal bony tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Rarefaction of the metaphyses" EXACT [] xref: UMLS:C1832146 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0004981 name: Prominent styloid process of ulna xref: UMLS:C4025262 is_a: HP:0004035 ! Abnormal ulnar styloid process morphology [Term] id: HP:0004986 name: obsolete Rudimentary to absent fibulae is_obsolete: true replaced_by: HP:0006381 [Term] id: HP:0004987 name: Mesomelic leg shortening def: "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [https://orcid.org/0009-0006-4530-3154] synonym: "Mesomelia of the lower limbs" EXACT [] synonym: "Mesomelic lower limb shortening" EXACT [] xref: UMLS:C1969178 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0004990 name: Epiphyseal streaking xref: UMLS:C1858039 is_a: HP:0005930 ! Abnormal epiphysis morphology [Term] id: HP:0004991 name: Rhizomelic arm shortening def: "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)." [https://orcid.org/0000-0002-0736-9199] comment: This term implies that the ulna and radius are not substantially shortened. xref: UMLS:C1969532 is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0004993 name: Slender long bones with narrow diaphyses def: "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Slender long bones with narrow shaft" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2675547 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0003100 ! Slender long bone [Term] id: HP:0004997 name: Multicentric ossification of proximal humeral epiphyses xref: UMLS:C1857192 is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses [Term] id: HP:0005001 name: Recurrent patellar dislocation def: "Patellar dislocation occurring repeated times." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent dislocation of patellas" EXACT [] xref: SNOMEDCT_US:202246002 xref: UMLS:C0409412 is_a: HP:0002999 ! Patellar dislocation is_a: HP:0031869 ! Recurrent joint dislocation [Term] id: HP:0005003 name: Aplasia/Hypoplasia of the capital femoral epiphysis def: "Absence or underdevelopment of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025261 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010577 ! Absent epiphyses [Term] id: HP:0005004 name: Flattened proximal radial epiphyses def: "An abnormally flat form of the proximal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1849065 is_a: HP:0004002 ! Flattened radial epiphyses is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0005005 name: Femoral bowing present at birth, straightening with time def: "Congenital onset bending or abnormal curvature of the femur that normalizes with age." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement. synonym: "Bowing of thighbone at birth, straightening with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1833754 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005008 name: Large joint dislocations synonym: "Large joint dislocations" EXACT layperson [] xref: UMLS:C4025260 is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0005009 name: Dumbbell-shaped humerus def: "The humerus is shortened and displays flaring (widening) of the metaphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Dumbbell-shaped long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025259 is_a: HP:0000947 ! Dumbbell-shaped long bone [Term] id: HP:0005010 name: Osteomyelitis leading to amputation due to slow healing fractures xref: UMLS:C1864975 is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005011 name: Mesomelic arm shortening alt_id: HP:0005024 alt_id: HP:0006455 def: "Shortening of the middle parts of the arm in relation to the upper and terminal segments." [https://orcid.org/0009-0006-4530-3154] synonym: "Mesomelia of the upper limbs" EXACT [] synonym: "Upper limb brachymesomelia" EXACT [] xref: UMLS:C1862087 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0005013 name: Dysplastic distal radial epiphyses def: "Abnormally developed (dysplastic) distal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1862131 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0005017 name: Polyarticular chondrocalcinosis xref: UMLS:C4025258 is_a: HP:0000934 ! Chondrocalcinosis [Term] id: HP:0005019 name: Diaphyseal undertubulation def: "Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones." [] synonym: "Diaphyseal widening" EXACT [] synonym: "Thickening of shaft or central part of long bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Undertubulated long bones" EXACT [] synonym: "Undertubulation of diaphyses" EXACT [] xref: UMLS:C1835473 is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0005021 name: Bilateral elbow dislocations synonym: "Dislocated elbows on both sides" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3278429 is_a: HP:0003042 ! Elbow dislocation [Term] id: HP:0005025 name: Hypoplastic distal humeri def: "Underdevelopment of the distal portion of the humerus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1968607 is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0005026 name: Mesomelic/rhizomelic limb shortening xref: UMLS:C1866239 is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0005028 name: Widened proximal tibial metaphyses synonym: "Wide innermost wide portion of shankbone bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide innermost wide portion of shinbone bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836187 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0005033 name: Distal ulnar hypoplasia alt_id: HP:0006474 def: "Underdevelopment of the distal portion of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Distal shortening of ulna" EXACT [] synonym: "Hypoplastic distal ulna" EXACT [] xref: UMLS:C1833145 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005035 name: Shortening of all phalanges of the toes def: "Developmental hypoplasia (shortening) of all phalanges of the foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Short toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025257 is_a: HP:0001831 ! Short toe is_a: HP:0010161 ! Abnormal toe phalanx morphology [Term] id: HP:0005036 name: Unilateral ulnar hypoplasia def: "Underdevelopment of the ulna on only one side." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1837832 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005037 name: Proximal radio-ulnar synostosis def: "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2676443 is_a: HP:0002974 ! Radioulnar synostosis [Term] id: HP:0005039 name: Multiple long-bone exostoses def: "Multiple exostoses originating in long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple exostoses of long tubular bones" EXACT [] xref: UMLS:C1835583 is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005041 name: Irregular capital femoral epiphysis alt_id: HP:0008806 def: "Irregular surface of the normally relatively smooth capital femoral epiphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular capital femoral epiphyses" RELATED [] synonym: "Irregular end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular proximal femoral epiphyses" EXACT [] xref: UMLS:C4020825 is_a: HP:0006361 ! Irregular femoral epiphysis is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0005042 name: Irregular, rachitic-like metaphyses xref: UMLS:C1866700 is_a: HP:0003025 ! Metaphyseal irregularity [Term] id: HP:0005043 name: Proximal humeral metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder)." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular proximal humeral metaphyses" EXACT [] xref: UMLS:C1865128 is_a: HP:0003913 ! Humeral metaphyseal irregularity [Term] id: HP:0005045 name: Diaphyseal cortical sclerosis def: "An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1833739 is_a: HP:0003034 ! Diaphyseal sclerosis [Term] id: HP:0005048 name: Synostosis of carpal bones synonym: "Fusion of wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836193 is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0005050 name: Anterolateral radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior/lateral radial head dislocation" EXACT [] xref: UMLS:C1968610 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005054 name: Metaphyseal spurs alt_id: HP:0005088 def: "Bony outgrowths that extend laterally from the margin of the metaphysis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1832988 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0005059 name: Arthralgia/arthritis synonym: "Joint pain/Joint inflammation" EXACT layperson [] xref: UMLS:C4025256 is_a: HP:0001369 ! Arthritis is_a: HP:0002829 ! Arthralgia [Term] id: HP:0005060 name: Limited elbow flexion/extension xref: UMLS:C1968605 is_a: HP:0001377 ! Limited elbow extension is_a: HP:0006376 ! Limited elbow flexion [Term] id: HP:0005063 name: Fragmented, irregular epiphyses synonym: "Fragmented, irregular end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1867494 is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0005066 name: Cone-shaped epiphyses fused within their metaphyses synonym: "Cone-shaped end part of long bone fused within their wide portion of wide bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025255 is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0005067 name: Proximal fibular overgrowth def: "Overgrowth of the proximal part of the fibula." [https://orcid.org/0000-0002-0736-9199] synonym: "Overgrowth of innermost part of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2673395 is_a: HP:0003099 ! Fibular overgrowth [Term] id: HP:0005068 name: Absent styloid process of ulna xref: UMLS:C4025254 is_a: HP:0004035 ! Abnormal ulnar styloid process morphology [Term] id: HP:0005069 name: Rhizo-meso-acromelic limb shortening xref: UMLS:C2673654 is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0005070 name: Proximal radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1865570 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005072 name: Wrist hypermobility def: "The ability of the wrist joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperextensibility at wrists" EXACT [] synonym: "Increased laxity of wrists" EXACT [] synonym: "Increased wrist mobility" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1850853 is_a: HP:0430046 ! Small joint hypermobilty [Term] id: HP:0005084 name: Anterior radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior dislocation of radial head" EXACT [] xref: UMLS:C2674451 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005085 name: Limited knee flexion/extension def: "A limited ability of the knee joint to perform extension and flexion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1968606 is_a: HP:0010501 ! Limitation of knee mobility [Term] id: HP:0005086 name: Knee osteoarthritis xref: SNOMEDCT_US:239873007 xref: UMLS:C0409959 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0034669 ! Abnormal knee morphology [Term] id: HP:0005089 name: Abnormal metaphyseal trabeculation alt_id: HP:0006360 def: "An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857139 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0005090 name: Lateral femoral bowing alt_id: HP:0005022 def: "A lateral bending or abnormal curvature of the femur." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1866737 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005092 name: Streaky metaphyseal sclerosis def: "The presence of streaks (bands) of abnormally increased density of metaphyseal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Streak increase in bone density in wide portion of wide bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025253 is_a: HP:0004979 ! Metaphyseal sclerosis [Term] id: HP:0005093 name: Absent proximal radial epiphyses def: "Absence of the proximal radial epiphysis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855301 is_a: HP:0010577 ! Absent epiphyses is_a: HP:0010596 ! Abnormality of the proximal radial epiphysis [Term] id: HP:0005096 name: Distal femoral bowing def: "A bending or abnormal curvature of the distal portion of the femur." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1860107 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005099 name: obsolete Severe hydrops fetalis synonym: "Severe hydrops" EXACT [] is_obsolete: true replaced_by: HP:0001789 [Term] id: HP:0005100 name: Premature birth following premature rupture of fetal membranes synonym: "Premature birth following premature rupture of foetal membranes" EXACT uk_spelling [] xref: UMLS:C1851833 is_a: HP:0001622 ! Premature birth is_a: HP:0001788 ! Premature rupture of membranes [Term] id: HP:0005101 name: High-frequency hearing impairment alt_id: HP:0008522 alt_id: HP:0008584 alt_id: HP:0008597 def: "A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)." [https://orcid.org/0000-0002-0736-9199] comment: High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally. synonym: "Hearing loss, high-frequency" EXACT layperson [] synonym: "High frequency hearing loss" EXACT layperson [] synonym: "High-frequency deafness" EXACT [] synonym: "Progressive high frequency hearing loss" EXACT layperson [] synonym: "Progressive high-frequency hearing loss" EXACT [] xref: SNOMEDCT_US:232326009 xref: SNOMEDCT_US:48758008 xref: UMLS:C0018780 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T05:03:00Z [Term] id: HP:0005102 name: Cochlear degeneration alt_id: HP:0008156 def: "Deterioration or loss of the tissues of the cochlea." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive cochlear degeneration" EXACT [] xref: UMLS:C1849095 is_a: HP:0000375 ! Abnormal cochlea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T05:06:00Z [Term] id: HP:0005103 name: Calcification of the auricular cartilage alt_id: HP:0008549 def: "Ossification affecting the external ear cartilage." [https://orcid.org/0000-0002-0736-9199, PMID:15523361, PMID:23259082] synonym: "Cartilaginous ossification of pinnae" EXACT [] synonym: "Ear cartilage calcification" RELATED [] synonym: "Ossification of pinnae" EXACT [] synonym: "Petrified ear" EXACT [] xref: UMLS:C1408806 is_a: HP:0000377 ! Abnormal pinna morphology is_a: HP:0100593 ! Calcification of cartilage property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T05:09:00Z [Term] id: HP:0005104 name: Hypoplastic nasal septum def: "Underdevelopment of the nasal septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased size of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of septum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1861328 is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T05:15:00Z [Term] id: HP:0005105 name: Abnormal nasal morphology comment: This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. synonym: "Abnormal nose morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal of morphology of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal of nasal shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal of shape of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4870 xref: UMLS:C4025252 is_a: HP:0000366 ! Abnormality of the nose property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T05:21:00Z [Term] id: HP:0005106 name: Abnormality of the vertebral endplates def: "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025251 is_a: HP:0003312 ! Abnormal form of the vertebral bodies property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:01:00Z [Term] id: HP:0005107 name: Abnormal sacrum morphology def: "An abnormality of the sacral bone." [https://orcid.org/0000-0002-0736-9199] comment: The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5. subset: hposlim_core synonym: "Abnormality of the sacrum" EXACT [] xref: UMLS:C4025250 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:03:00Z [Term] id: HP:0005108 name: Abnormal intervertebral disk morphology def: "Any structural abnormality of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199] comment: Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies. subset: hposlim_core synonym: "Abnormality of the intervertebral disc" EXACT uk_spelling [] synonym: "Abnormality of the intervertebral disk" EXACT [] xref: UMLS:C4025249 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:05:00Z [Term] id: HP:0005109 name: Abnormality of the Achilles tendon def: "An abnormality of the Achilles tendon." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the Achilles tendon" EXACT layperson [] synonym: "Abnormality of the calcaneal tendon" EXACT [] xref: UMLS:C4021642 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0100261 ! Abnormal tendon morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:21:00Z [Term] id: HP:0005110 name: Atrial fibrillation alt_id: HP:0001715 alt_id: HP:0005179 def: "An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute." [https://orcid.org/0000-0002-0736-9199] comment: The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. synonym: "Quivering upper heart chambers resulting in irregular heartbeat" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:49436004 xref: UMLS:C0004238 is_a: HP:0001692 ! Atrial arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:29:00Z [Term] id: HP:0005111 name: obsolete Dilatation of the ascending aorta is_obsolete: true replaced_by: HP:0004970 [Term] id: HP:0005112 name: Abdominal aortic aneurysm alt_id: HP:0004953 def: "An abnormal localized widening (dilatation) of the abdominal aorta." [] synonym: "Dilatation of the abdominal aorta" BROAD [] xref: UMLS:C4025248 is_a: HP:0004942 ! Aortic aneurysm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:33:00Z [Term] id: HP:0005113 name: Aortic arch aneurysm alt_id: HP:0004965 def: "An abnormal localized widening (dilatation) of the aortic arch." [] synonym: "Aortic arch dilatation" BROAD [] synonym: "Dilatation of the aortic arch" BROAD [] xref: Fyler:2706 xref: UMLS:C1851119 is_a: HP:0012727 ! Thoracic aortic aneurysm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:34:00Z [Term] id: HP:0005114 name: obsolete Abnormalities of the peripheral arteries is_obsolete: true replaced_by: HP:0011004 [Term] id: HP:0005115 name: Supraventricular arrhythmia def: "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm." [https://orcid.org/0000-0002-0736-9199] comment: Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles. synonym: "Supraventricular arrhythmias" EXACT plural_form [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:72654001 xref: UMLS:C0428974 is_a: HP:0011675 ! Arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:37:00Z [Term] id: HP:0005116 name: Arterial tortuosity def: "Abnormal tortuous (i.e., twisted) form of arteries." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3279191 is_a: HP:0004948 ! Vascular tortuosity is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:39:00Z [Term] id: HP:0005117 name: Elevated diastolic blood pressure def: "Abnormal increase in diastolic blood pressure." [https://orcid.org/0000-0002-0736-9199] comment: Normal diastolic blood pressure is less than 80 mmHg. synonym: "Elevated diastolic BP" EXACT abbreviation [] xref: UMLS:C1840375 is_a: HP:0032263 ! Increased blood pressure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-25T06:43:00Z [Term] id: HP:0005120 name: Abnormal cardiac atrium morphology def: "Any structural abnormality of a cardiac atrium." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cardiac atrium morphology" EXACT [] synonym: "Abnormality of heart atrium" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025246 is_a: HP:0001627 ! Abnormal heart morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:12:00Z [Term] id: HP:0005121 name: Posterior scalloping of vertebral bodies alt_id: HP:0004572 alt_id: HP:0004579 def: "An excessive concavity of the posterior surface of one or more vertebral bodies." [https://orcid.org/0000-0002-0736-9199] comment: The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors. synonym: "Posterior vertebral body scalloping" EXACT [] xref: UMLS:C1850196 is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0005129 name: Congenital hypertrophy of left ventricle xref: UMLS:C1855901 is_a: HP:0001712 ! Left ventricular hypertrophy [Term] id: HP:0005130 name: obsolete Restrictive heart failure is_obsolete: true replaced_by: HP:0001723 [Term] id: HP:0005132 name: Pericardial constriction def: "Compression of the heart caused by rigid, thickened, or fused pericardial membranes." [PMID:14966039] xref: UMLS:C0240709 is_a: HP:0001697 ! Abnormal pericardium morphology [Term] id: HP:0005133 name: Right ventricular dilatation def: "Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1." [https://orcid.org/0000-0002-0736-9199, PMID:17715105, PMID:24075286, PMID:37443588] comment: Ventricular dilatation is to be distinguished from ventricular aneurysm, which refers to a diastolic as well as systolic outpouching of the ventricle containing endocardium, epicardium, and thin-wall non-contractile scarred myocardium, which mainly develop in the setting of a full-thickness infarct, replaced by fibrous tissue because of myocardial infarction. synonym: "Dilated heart right ventricle" EXACT [] xref: Fyler:1827 xref: Fyler:2333 xref: SNOMEDCT_US:253522006 xref: UMLS:C0344893 is_a: HP:0001707 ! Abnormal right ventricle morphology [Term] id: HP:0005134 name: Absence of the pulmonary valve alt_id: HP:0005131 def: "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries." [HPO_CONTRIBUTOR:DDD_dbrown] comment: The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients. synonym: "Absent pulmonary valve" EXACT [] xref: SNOMEDCT_US:6996004 xref: UMLS:C0265831 is_a: HP:0001641 ! Abnormal pulmonary valve morphology [Term] id: HP:0005135 name: Abnormal T-wave def: "An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles." [https://orcid.org/0000-0002-0736-9199] synonym: "EKG: T-wave abnormalities" EXACT [] synonym: "T-wave abnormalities" EXACT [] xref: UMLS:C4025245 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0005136 name: Mitral annular calcification def: "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus." [https://orcid.org/0000-0002-0736-9199, PMID:23587525] comment: MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual. synonym: "Premature calcification of mitral annulus" EXACT [] xref: UMLS:C1835130 is_a: HP:0004382 ! Mitral valve calcification [Term] id: HP:0005141 name: obsolete Episodes of ventricular tachycardia is_obsolete: true replaced_by: HP:0004751 [Term] id: HP:0005143 name: Anomalous origin of right pulmonary artery from ascending aorta def: "The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [HPO_CONTRIBUTOR:DDD_dbrown] xref: SNOMEDCT_US:253634009 xref: UMLS:C0345037 is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta [Term] id: HP:0005144 name: Ventricular septal hypertrophy def: "The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle." [http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4, PMID:21349577] synonym: "Thickened interventricular septum" EXACT [] xref: UMLS:C1845019 is_a: HP:0010438 ! Abnormal ventricular septum morphology [Term] id: HP:0005145 name: Coronary artery stenosis def: "Abnormal narrowing of the coronary artery." [] synonym: "Narrowing of coronary artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:233970002 xref: UMLS:C0242231 is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0005146 name: Cardiac valve calcification def: "Abnormal calcification of a cardiac valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Calcifications of the cardiac valves" EXACT [] xref: UMLS:C1856483 is_a: HP:0001654 ! Abnormal heart valve morphology is_a: HP:0011915 ! Cardiovascular calcification [Term] id: HP:0005147 name: Bidirectional ventricular ectopy xref: UMLS:C1969410 is_a: HP:0006682 ! Premature ventricular contraction [Term] id: HP:0005148 name: Pulmonary valve defects def: "Any defect in the valve connecting the heart and the pulmonary artery." [] xref: UMLS:C1860165 is_a: HP:0001641 ! Abnormal pulmonary valve morphology [Term] id: HP:0005150 name: Abnormal atrioventricular conduction def: "An impairment of the electrical continuity between the atria and ventricles." [PMID:15372490] xref: UMLS:C4025244 is_a: HP:0031546 ! Cardiac conduction abnormality [Term] id: HP:0005151 name: Preductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch." [HPO_CONTRIBUTOR:DDD_dbrown] comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. synonym: "Proximal aortic coarctation" EXACT [] xref: SNOMEDCT_US:13867009 xref: UMLS:C0265878 is_a: HP:0012305 ! Coarctation of the descending aortic arch [Term] id: HP:0005152 name: Histiocytoid cardiomyopathy def: "A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells." [PMID:21585276, PMID:28050600] comment: This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years. synonym: "Arachnocytosis of the myocardium" EXACT [] synonym: "Foamy myocardial transformation" EXACT [] synonym: "Focal lipid cardiomyopathy" EXACT [] synonym: "Infantile cardiomyopathy with histiocytoid changes" EXACT [] synonym: "Infantile xanthomatous cardiomyopathy" EXACT [] synonym: "Isolated cardiac lipidosis" EXACT [] synonym: "Myocardial or conduction system hamartoma" EXACT [] synonym: "Oncocytic cardiomyopathy" EXACT [] xref: UMLS:C1708371 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0005155 name: Ventricular escape rhythm def: "A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms)." [] synonym: "Idioventricular escape rhythm" EXACT [] xref: SNOMEDCT_US:81898007 xref: UMLS:C0232216 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005156 name: Hypoplastic left atrium def: "Underdeveloped, small left heart atrium" [] synonym: "Left atrium hypoplasia" EXACT [] synonym: "Underdeveloped left heart atrium" EXACT [] xref: Fyler:3040 xref: UMLS:C1970625 is_a: HP:0025579 ! Abnormal left atrium morphology [Term] id: HP:0005157 name: Concentric hypertrophic cardiomyopathy alt_id: HP:0001672 def: "Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy." [https://orcid.org/0000-0002-0736-9199] synonym: "Symmetric, concentric, hypertrophic cardiomyopathy" EXACT [] xref: UMLS:C0238044 is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0005160 name: Total anomalous pulmonary venous return alt_id: HP:0005153 alt_id: HP:0005175 def: "Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium." [https://orcid.org/0000-0002-0736-9199] comment: Pulmonary veins drain through abnormal connections to the right atrium. synonym: "TAPVC" EXACT abbreviation [] synonym: "TAPVD" EXACT abbreviation [] synonym: "TAPVR" EXACT abbreviation [] synonym: "Total anomalous pulmonary venous connection" EXACT [] synonym: "Total anomalous pulmonary venous drainage" EXACT [] xref: Fyler:0900 xref: Fyler:900 xref: SNOMEDCT_US:111323005 xref: SNOMEDCT_US:39905002 xref: UMLS:C0036400 is_a: HP:0010772 ! Anomalous pulmonary venous return [Term] id: HP:0005162 name: Abnormal left ventricular function alt_id: HP:0005154 def: "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole." [http://www.heart.org/HEARTORG/Conditions/HeartFailure/AboutHeartFailure/Types-of-Heart-Failure_UCM_306323_Article.jsp#.WmeKyJM-dL4, PMID:10956313] synonym: "Impaired left ventricular function" EXACT [] synonym: "Left ventricular dysfunction" EXACT [] synonym: "Left ventricular failure" EXACT [] synonym: "Left ventricular impairment" EXACT [] synonym: "Left-sided heart failure" EXACT [] xref: SNOMEDCT_US:275514001 xref: SNOMEDCT_US:85232009 xref: UMLS:C0023212 xref: UMLS:C0553982 is_a: HP:0030872 ! Abnormal cardiac ventricular function [Term] id: HP:0005164 name: Dysplastic pulmonary valve def: "A congenital malformation of the pulmonary valve characterized by leaflet deformation." [PMID:7704986] synonym: "Dysplasia of pulmonary valve" EXACT [] synonym: "Pulmonary valve dysplasia" EXACT [] xref: UMLS:C1866206 is_a: HP:0001641 ! Abnormal pulmonary valve morphology [Term] id: HP:0005165 name: Shortened PR interval def: "Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long." [https://orcid.org/0000-0002-0736-9199] synonym: "Electrocardiographic short PR interval" EXACT [] synonym: "Short P-R interval" EXACT [] synonym: "Shortened PR interval on EKG" EXACT [] xref: SNOMEDCT_US:49578007 xref: UMLS:C0520878 is_a: HP:0031593 ! Abnormal PR interval [Term] id: HP:0005168 name: Elevated right atrial pressure def: "An abnormal increase in magnitude of the pressure in the right atrium." [PMID:25211049] comment: Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization. xref: UMLS:C1867421 is_a: HP:0025443 ! Abnormal cardiac atrial physiology [Term] id: HP:0005170 name: Complete heart block with broad QRS complexes def: "A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex." [] xref: UMLS:C1861987 is_a: HP:0001709 ! Third degree atrioventricular block [Term] id: HP:0005172 name: Left posterior fascicular block def: "Conduction block in the posterior division of the left bundle branch of the bundle of His." [https://orcid.org/0000-0002-0736-9199] synonym: "Left posterior hemiblock" EXACT [] xref: SNOMEDCT_US:62026008 xref: UMLS:C0264913 is_a: HP:0011713 ! Left bundle branch block [Term] id: HP:0005173 name: obsolete Calcific aortic valve stenosis is_obsolete: true replaced_by: HP:0004380 [Term] id: HP:0005174 name: Membranous subvalvular aortic stenosis def: "Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency." [https://orcid.org/0000-0002-0736-9199, PMID:5817839] comment: An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter. xref: UMLS:C1848978 is_a: HP:0001682 ! Subvalvular aortic stenosis [Term] id: HP:0005176 name: Dysplastic aortic valve def: "A congenital malformation of the aortic valve characterized by leaflet deformation." [PMID:21349746] xref: UMLS:C1866207 is_a: HP:0001646 ! Abnormal aortic valve morphology [Term] id: HP:0005177 name: Premature arteriosclerosis def: "Arteriosclerosis occurring at an age that is younger than usual." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature hardening of arteries" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1848486 xref: UMLS:C4280503 is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0005178 name: Complete heart block with narrow QRS complexes def: "A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex." [] xref: UMLS:C1841661 is_a: HP:0001709 ! Third degree atrioventricular block [Term] id: HP:0005180 name: Tricuspid regurgitation alt_id: HP:0004753 def: "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [https://orcid.org/0000-0002-0736-9199] comment: This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). synonym: "Tricuspid insufficiency" EXACT [] synonym: "Tricuspid valve regurgitation" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:1161 xref: SNOMEDCT_US:111287006 xref: UMLS:C0040961 is_a: HP:0031651 ! Abnormal tricuspid valve physiology is_a: HP:0034376 ! Atrioventricular valve regurgitation [Term] id: HP:0005181 name: Premature coronary artery atherosclerosis def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45." [PMID:28070240] synonym: "Premature coronary artery disease" EXACT layperson [] xref: UMLS:C1867743 is_a: HP:0001677 ! Coronary artery atherosclerosis [Term] id: HP:0005182 name: Bicuspid pulmonary valve def: "The presence of a bicuspid pulmonary valve." [https://orcid.org/0000-0002-0736-9199] comment: The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. xref: Fyler:1601 xref: SNOMEDCT_US:253599005 xref: UMLS:C0344987 is_a: HP:0031566 ! Abnormal pulmonary valve cusp morphology [Term] id: HP:0005183 name: Pericardial lymphangiectasia def: "An abnormal dilatation of lymph vessels in the pericardium." [PMID:18391124] xref: UMLS:C1856140 is_a: HP:0001697 ! Abnormal pericardium morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0005184 name: Prolonged QTc interval def: "A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations." [PMID:24097136] xref: UMLS:C1560305 is_a: HP:0001657 ! Prolonged QT interval [Term] id: HP:0005185 name: Global systolic dysfunction def: "A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly." [PMID:24173273, PMID:7713107] xref: UMLS:C1847397 is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0005186 name: Synovial lining hyperplasia def: "Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically." [PMID:27412524, PMID:30618151] comment: Synovial hyperplasia is a frequent clinical finding in patients with joint injury and other joint disorders. synonym: "Synovial hyperplasia" EXACT [] synonym: "Synovial hypertrophy" EXACT [] xref: SNOMEDCT_US:240206002 xref: UMLS:C0410574 is_a: HP:0005262 ! Abnormal synovial membrane morphology [Term] id: HP:0005187 name: Progressive joint destruction xref: UMLS:C4025243 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0005190 name: Proximal finger joint hyperextensibility xref: UMLS:C4025242 is_a: HP:0001187 ! Hyperextensibility of the finger joints [Term] id: HP:0005191 name: Congenital knee dislocation synonym: "Dislocated knee since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:59068006 xref: UMLS:C0265669 is_a: HP:0004976 ! Knee dislocation [Term] id: HP:0005193 name: Restricted large joint movement xref: UMLS:C4025241 is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0005194 name: Flattened metatarsal heads def: "Abnormally flat shape of the heads of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199] comment: The metatarsal heads articulate with the proximal phalanges of the toes. synonym: "Flattened head of long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025240 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0005195 name: Polyarticular arthropathy xref: UMLS:C4025239 is_a: HP:0003040 ! Arthropathy [Term] id: HP:0005197 name: Generalized morning stiffness def: "A sensation of stiffness in the joints that occurs following waking up in the morning." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised morning stiffness" EXACT uk_spelling [] xref: UMLS:C4025238 is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0005198 name: Stiff interphalangeal joints def: "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity." [https://orcid.org/0000-0002-0736-9199] synonym: "Stiff hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025237 is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0005199 name: Aplasia of the abdominal wall musculature def: "Absence of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent abdominal musculature" EXACT [] xref: UMLS:C3149223 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005200 name: Retroperitoneal fibrosis xref: SNOMEDCT_US:49120005 xref: UMLS:C0035357 is_a: HP:0002585 ! Abnormal peritoneum morphology [Term] id: HP:0005201 name: Anomalous splenoportal venous system xref: UMLS:C4025236 is_a: HP:0031941 ! Abnormal portal venous system morphology [Term] id: HP:0005202 name: Helicobacter pylori infection def: "A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach." [PMID:23652324] comment: The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts. xref: UMLS:C0850666 is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract [Term] id: HP:0005203 name: Spontaneous esophageal perforation alt_id: HP:0005251 def: "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus." [https://orcid.org/0000-0002-0736-9199] comment: Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis. synonym: "Boerhaave syndrome" RELATED [] synonym: "Spontaneous esophageal rupture" EXACT [] xref: SNOMEDCT_US:19995004 xref: UMLS:C0238115 is_a: HP:0002031 ! Abnormal esophagus morphology [Term] id: HP:0005206 name: Pancreatic pseudocyst def: "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111374002 xref: UMLS:C0030299 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0005207 name: Gastric hypertrophy def: "Hypertrophy of the stomach." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased stomach size" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834341 xref: UMLS:C4280502 is_a: HP:0002577 ! Abnormal stomach morphology [Term] id: HP:0005208 name: Secretory diarrhea def: "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." [https://orcid.org/0000-0002-0736-9199] synonym: "Secretory diarrhoea" EXACT uk_spelling [] xref: SNOMEDCT_US:15699003 xref: UMLS:C0267557 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0005209 name: Intrahepatic bile duct cysts def: "The presence of cyst of the intrahepatic bile duct." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:235925007 xref: UMLS:C0400991 is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology [Term] id: HP:0005210 name: Hypoplastic colon def: "Underdevelopment of the colon." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of the colon" EXACT [] synonym: "Underdeveloped colon" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1392839 is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon [Term] id: HP:0005211 name: Midgut malrotation xref: UMLS:C1849706 is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0005212 name: Anal mucosal leukoplakia def: "Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation." [https://orcid.org/0000-0002-0736-9199, PMID:13316552] xref: UMLS:C1844632 is_a: HP:0032186 ! Anal neoplasm [Term] id: HP:0005213 name: Pancreatic calcification def: "The presence of abnormal calcium deposition lesions in the pancreas." [https://orcid.org/0000-0002-0736-9199] synonym: "Pancreatic calcifications" EXACT plural_form [] xref: UMLS:C1842406 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0005214 name: Intestinal obstruction alt_id: HP:0005239 def: "Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal." [https://orcid.org/0000-0002-0736-9199] synonym: "Bowel obstruction" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Intestinal blockage" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Intestinal obstruction" EXACT layperson [] xref: SNOMEDCT_US:81060008 xref: UMLS:C0021843 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005215 name: Frequent Giardia lamblia infestation def: "Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025235 is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract [Term] id: HP:0005216 name: Impaired mastication def: "An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing." [PMID:23713640] comment: Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia. synonym: "Chewing difficulties" EXACT layperson [] synonym: "Chewing difficulty" EXACT layperson [] synonym: "Difficulty chewing" EXACT layperson [] xref: SNOMEDCT_US:162020001 xref: UMLS:C0239043 is_a: HP:0031815 ! Abnormal oral physiology [Term] id: HP:0005217 name: Abdominal organ duplication def: "A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen." [] xref: UMLS:C4025234 is_a: HP:0001438 ! Abnormal abdomen morphology [Term] id: HP:0005218 name: Anoperineal fistula def: "The presence of a fistula (abnormal tunnel) between the anal canal and the perineum." [https://orcid.org/0000-0002-0736-9199] synonym: "Perianal fistula" BROAD [] xref: UMLS:C1835798 is_a: HP:0004871 ! Perineal fistula is_a: HP:0010447 ! Anal fistula [Term] id: HP:0005219 name: Absence of intrinsic factor def: "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be ascertained by immunoassay of gastric juices. synonym: "Intrinsic factor absent from gastric juice" EXACT [] xref: UMLS:C4021641 is_a: HP:0002577 ! Abnormal stomach morphology [Term] id: HP:0005220 name: Multiple intestinal neurofibromatosis xref: UMLS:C4025233 is_a: HP:0001067 ! Neurofibroma is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0005222 name: Bowel diverticulosis def: "The presence of multiple diverticula of the intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Bowel diverticula" RELATED [] xref: UMLS:C1394691 xref: UMLS:C1395674 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005223 name: Duplicated colon xref: UMLS:C1850328 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0100668 ! Intestinal duplication [Term] id: HP:0005224 name: Rectal abscess alt_id: HP:0002567 def: "A collection of pus in the area of the rectum." [https://orcid.org/0000-0002-0736-9199] synonym: "Perirectal abscess" EXACT [] xref: SNOMEDCT_US:197166005 xref: SNOMEDCT_US:91669008 xref: UMLS:C0149770 xref: UMLS:C0267566 is_a: HP:0002034 ! Abnormal rectum morphology is_a: HP:0025615 ! Abscess [Term] id: HP:0005225 name: Intestinal edema def: "Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram. synonym: "Intestinal oedema" EXACT uk_spelling [] xref: UMLS:C1142262 is_a: HP:0000969 ! Edema is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005227 name: Adenomatous colonic polyposis alt_id: HP:0005226 def: "Presence of multiple adenomatous polyps in the colon." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple adenomatous colon polyps" EXACT [] synonym: "Multiple colonic adenomatous polyps" EXACT [] xref: MEDDRA:10056981 "Adenomatous polyposis coli" xref: UMLS:C1868071 is_a: HP:0030255 ! Large intestinal polyposis is_a: HP:0100273 ! Neoplasm of the colon [Term] id: HP:0005229 name: Jejunoileal ulceration xref: UMLS:C4025232 is_a: HP:0001549 ! Abnormal ileum morphology is_a: HP:0005265 ! Abnormal jejunum morphology is_a: HP:0034274 ! Gastrointestinal ulcer [Term] id: HP:0005230 name: Biliary tract obstruction def: "Obstruction affecting the biliary tree." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:235918000 xref: UMLS:C0400979 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0005231 name: Chronic gastritis def: "A chronic form of gastritis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:8493009 xref: UMLS:C0085695 is_a: HP:0005263 ! Gastritis [Term] id: HP:0005232 name: Pancreatic dysplasia def: "The presence of developmental dysplasia of the pancreas." [https://orcid.org/0000-0002-0736-9199] comment: Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture. xref: UMLS:C4019084 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0005233 name: Hypoplasia of the gallbladder def: "The presence of a hypoplastic gallbladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic gallbladder" EXACT [] xref: SNOMEDCT_US:93259002 xref: UMLS:C0345282 is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder [Term] id: HP:0005234 name: Neonatal intestinal obstruction xref: UMLS:C0859974 is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0005235 name: Jejunal atresia alt_id: HP:0011101 def: "A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204702007 xref: SNOMEDCT_US:360491009 xref: UMLS:C0266175 is_a: HP:0005265 ! Abnormal jejunum morphology is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0005236 name: Chronic calcifying pancreatitis def: "A form of chronic pancreatitis that is characterized by calcification." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025231 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0005237 name: Degenerative liver disease def: "The presence of degenerative changes of the liver." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025230 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0005238 name: Discrete intestinal polyps xref: UMLS:C4025229 is_a: HP:0200008 ! Intestinal polyposis [Term] id: HP:0005240 name: Esophageal obstruction xref: SNOMEDCT_US:405247003 xref: UMLS:C0239296 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005241 name: Total intestinal aganglionosis def: "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel." [https://orcid.org/0000-0002-0736-9199, PMID:596929] xref: SNOMEDCT_US:204745000 xref: UMLS:C0345240 is_a: HP:0004362 ! Abnormal enteric ganglion morphology [Term] id: HP:0005242 name: Extrahepatic biliary duct atresia alt_id: HP:0006553 def: "Atresia in the extrahepatic bile duct." [https://orcid.org/0000-0002-0736-9199] synonym: "Biliary atresia, extrahepatic" EXACT [] xref: SNOMEDCT_US:77480004 xref: SNOMEDCT_US:82821008 xref: UMLS:C0005411 is_a: HP:0005912 ! Biliary atresia is_a: HP:0035013 ! Abnormal extrahepatic bile duct morphology [Term] id: HP:0005243 name: Partial abdominal muscle agenesis def: "Failure to form of portions of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025228 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005244 name: Gastrointestinal infarctions synonym: "Death of digestive organ tissue due to poor blood supply" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "GI infarctions" EXACT abbreviation [] xref: UMLS:C3152231 is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0005245 name: Intestinal hypoplasia def: "Developmental hypoplasia of the intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic intestines" EXACT [] synonym: "Underdeveloped instestine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021640 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005246 name: Giant hypertrophic gastritis def: "A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds." [https://orcid.org/0000-0002-0736-9199] synonym: "Menetrier disease" RELATED [] xref: SNOMEDCT_US:413219009 xref: SNOMEDCT_US:60002000 xref: UMLS:C0017155 is_a: HP:0005263 ! Gastritis [Term] id: HP:0005247 name: Hypoplasia of the abdominal wall musculature def: "Underdevelopment of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Abdominal muscular hypoplasia" EXACT [] xref: UMLS:C3279407 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005248 name: Intrahepatic biliary atresia def: "Atresia in the intrahepatic bile duct." [https://orcid.org/0000-0002-0736-9199] synonym: "Bile duct paucity" EXACT [https://orcid.org/0000-0001-5208-3432, PMID:6981794] synonym: "Intrahepatic atresia of biliary duct" EXACT [] xref: UMLS:C1855284 is_a: HP:0005912 ! Biliary atresia is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology [Term] id: HP:0005249 name: Functional intestinal obstruction xref: UMLS:C3639956 is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005250 name: High intestinal obstruction xref: UMLS:C4025227 is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0005253 name: Increased anterioposterior diameter of thorax synonym: "Increased anterioposterior diameter of chest" EXACT [] xref: UMLS:C1848760 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0005254 name: Unilateral chest hypoplasia synonym: "Small chest on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped chest on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1845576 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0005255 name: Absence of pectoralis minor muscle def: "Aplasia (congenital absence) of the pectoralis minor." [https://orcid.org/0000-0002-0736-9199] synonym: "Pectoralis minor aplasia" EXACT [] xref: UMLS:C1868158 is_a: HP:0011957 ! Abnormal pectoral muscle morphology [Term] id: HP:0005256 name: Unilateral absence of pectoralis major muscle def: "Aplasia (congenital absence) of the pectoralis minor on only one side of the chest." [https://orcid.org/0000-0002-0736-9199] synonym: "Unilateral aplasia of pectoralis major muscle" EXACT [] xref: UMLS:C4021639 is_a: HP:0011957 ! Abnormal pectoral muscle morphology [Term] id: HP:0005257 name: Thoracic hypoplasia alt_id: HP:0001590 synonym: "Small chest" EXACT layperson [] synonym: "Small thorax" EXACT layperson [] xref: UMLS:C1837482 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0005258 name: Pectoral muscle hypoplasia/aplasia synonym: "Small/absent pec muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped/absent pec muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025226 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0005259 name: Abnormal facility in opposing the shoulders def: "Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest." [PMID:23289840] comment: This feature is characteristic of cleidocranial dysplasia. See Figure 2 of PMID:23289840 xref: UMLS:C1861517 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0005261 name: Joint hemorrhage alt_id: HP:0001391 alt_id: HP:0005196 def: "Hemorrhage occurring within a joint." [HPO_CONTRIBUTOR:gcarletti] synonym: "Bleeding within a joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hemarthroses" EXACT [] synonym: "Hemarthrosis" EXACT layperson [] synonym: "Joint hemorrhage" EXACT [] synonym: "Spontaneous joint haemorrhage" EXACT uk_spelling [] synonym: "Spontaneous joint hemorrhage" EXACT [] xref: SNOMEDCT_US:81808003 xref: UMLS:C0018924 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0011029 ! Internal hemorrhage property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005262 name: Abnormal synovial membrane morphology def: "Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products." [PMID:27412524] xref: UMLS:C4025225 is_a: HP:0001367 ! Abnormal joint morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005263 name: Gastritis def: "The presence of inflammation of the gastric mucous membrane." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Stomach inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10017853 "Gastritis" xref: SNOMEDCT_US:4556007 xref: UMLS:C0017152 is_a: HP:0004295 ! Abnormal gastric mucosa morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:32:00Z [Term] id: HP:0005264 name: Abnormality of the gallbladder def: "An abnormality of the gallbladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the gallbladder" EXACT layperson [] synonym: "Anomaly of the gallbladder" EXACT [] xref: SNOMEDCT_US:253803008 xref: SNOMEDCT_US:49714001 xref: UMLS:C0266249 is_a: HP:0004297 ! Abnormality of the biliary system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:40:00Z [Term] id: HP:0005265 name: Abnormal jejunum morphology def: "An abnormality of the jejunum, i.e., of the middle section of the small intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the jejunum" EXACT [] xref: UMLS:C4025224 is_a: HP:0002244 ! Abnormal small intestine morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:44:00Z [Term] id: HP:0005266 name: Intestinal polyp def: "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [https://orcid.org/0000-0002-0736-9199] synonym: "Intestinal polyps" EXACT [] xref: SNOMEDCT_US:254588001 xref: UMLS:C0021846 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T04:46:00Z [Term] id: HP:0005267 name: Premature delivery because of cervical insufficiency or membrane fragility xref: UMLS:C1851808 is_a: HP:0001622 ! Premature birth [Term] id: HP:0005268 name: Miscarriage def: "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy." [https://orcid.org/0000-0002-0736-9199] comment: The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges. synonym: "Early fetal demise" EXACT [] synonym: "Early foetal demise" EXACT uk_spelling [] synonym: "Spontaneous abortion" EXACT [] xref: SNOMEDCT_US:17369002 xref: UMLS:C0000786 is_a: HP:0034241 ! Prenatal death [Term] id: HP:0005272 name: Prominent nasolabial fold def: "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)." [PMID:19125428] subset: hposlim_core synonym: "Deep laugh lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deep nasolabial crease" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deep nasolabial fold" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deep nasolabial groove" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deep smile lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasolabial crease, prominent" EXACT [] synonym: "Prominent laugh lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nasolabial groove" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent smile lines" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1866487 is_a: HP:0005289 ! Abnormal nasolabial region morphology [Term] id: HP:0005273 name: Absent nasal septal cartilage def: "Lack of the cartilage of the nasal septum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent nasal septal cartilage" EXACT layperson [] synonym: "Absent nasal septum" EXACT layperson [] synonym: "Ageneis of nasal septal cartilage" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of nasal septal cartilage" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021638 xref: UMLS:C4280501 is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum is_a: HP:3000034 ! Abnormality nasal septum cartilage morphology [Term] id: HP:0005274 name: Prominent nasal tip synonym: "Bulbous tip of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of nasal tip" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of tip of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of nasal tip" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of tip of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Large nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nasal tip" EXACT layperson [] synonym: "Prominent tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pronounced nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pronounced tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856118 xref: UMLS:C4280498 xref: UMLS:C4280499 xref: UMLS:C4280500 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0005275 name: Cartilaginous ossification of nose synonym: "Cartilaginous nasal ossification" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855616 is_a: HP:0000429 ! Abnormal morphology of the nasal alae [Term] id: HP:0005278 name: Hypoplastic nasal tip synonym: "Aplasia of nasal tip" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficient nasal tip" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of tip of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic nasal tip" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic tip of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844731 xref: UMLS:C4280496 xref: UMLS:C4280497 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0005280 name: Depressed nasal bridge alt_id: HP:0000425 alt_id: HP:0000428 alt_id: HP:0000439 alt_id: HP:0000459 alt_id: HP:0004413 alt_id: HP:0004505 alt_id: HP:0004506 alt_id: HP:0004666 alt_id: HP:0005119 alt_id: HP:0005284 def: "Posterior positioning of the nasal root in relation to the overall facial profile for age." [PMID:19152422] comment: The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. subset: hposlim_core synonym: "Concave bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Concave nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed nasal bridge" EXACT layperson [] synonym: "Depressed nasal root" EXACT [] synonym: "Depressed nasal root/bridge" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Flat bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nasal bridge" EXACT layperson [] synonym: "Flat nasal root" EXACT [] synonym: "Flat, nasal bridge" EXACT layperson [] synonym: "Flattened nasal bridge" EXACT layperson [] synonym: "Low nasal bridge" EXACT layperson [] synonym: "Low nasal root" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Retruded bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retruded nasal bridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836542 xref: UMLS:C3550546 xref: UMLS:C4280495 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0005281 name: Hypoplastic nasal bridge synonym: "Decreased size of bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic bridge of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic nasal bridge" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1865597 xref: UMLS:C4280494 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0005285 name: Absent nasal bridge synonym: "Absent bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absent nasal bridge" EXACT layperson [] synonym: "Agenesis of bridge of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of nasal bridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837888 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0005288 name: Abnormal nostril morphology def: "Abnormality of the nostril." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal naris morphology" EXACT [] synonym: "Abnormality of the nares" EXACT [] synonym: "Abnormality of the nostrils" EXACT layperson [] synonym: "Anomaly of the nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nares" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nostrils" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nares" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nostrils" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021637 is_a: HP:0005105 ! Abnormal nasal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T06:04:00Z [Term] id: HP:0005289 name: Abnormal nasolabial region morphology synonym: "Abnormality of the nasolabial region" EXACT [] synonym: "Anomaly of the nasolabial region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasolabial region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasolabial region" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025223 is_a: HP:0000366 ! Abnormality of the nose property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T06:07:00Z [Term] id: HP:0005290 name: Internal carotid artery hypoplasia synonym: "Aplasia of internal carotid artery" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of internal carotid artery" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of internal carotid artery" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic internal carotid artery" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small internal carotid artery" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855736 xref: UMLS:C4280491 xref: UMLS:C4280492 xref: UMLS:C4280493 is_a: HP:3000062 ! Abnormal internal carotid artery morphology [Term] id: HP:0005291 name: Inflammatory arteriopathy xref: UMLS:C4025222 is_a: HP:0034785 ! Vasculitis by histology [Term] id: HP:0005292 name: Intimal thickening in the coronary arteries xref: UMLS:C1968633 is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0005293 name: Venous insufficiency synonym: "Poorly functioning veins" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:20696009 xref: UMLS:C0042485 is_a: HP:0002624 ! Abnormal venous morphology [Term] id: HP:0005294 name: Arterial dissection def: "A separation (dissection) of the layers of an artery." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:233992003 xref: SNOMEDCT_US:26845001 xref: SNOMEDCT_US:710864009 xref: SNOMEDCT_US:9406001 xref: UMLS:C0002949 is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0005295 name: Pseudocoarctation of the aorta def: "Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum." [https://orcid.org/0000-0002-0736-9199, PMID:17593995, PMID:18651460] comment: Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch. xref: SNOMEDCT_US:70602002 xref: UMLS:C0345088 is_a: HP:0012303 ! Abnormal aortic arch morphology [Term] id: HP:0005296 name: obsolete Occlusive vascular disease is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005297 name: Premature occlusive vascular stenosis def: "Peripheral arterial stenosis with onset before the age of 50 years." [] xref: UMLS:C1867457 is_a: HP:0004950 ! Peripheral arterial stenosis [Term] id: HP:0005298 name: obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia is_obsolete: true replaced_by: HP:0006695 [Term] id: HP:0005299 name: obsolete Premature peripheral vascular disease is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005300 name: Nodular inflammatory vasculitis xref: UMLS:C4025219 is_a: HP:0034785 ! Vasculitis by histology [Term] id: HP:0005301 name: Persistent left superior vena cava def: "A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress." [PMID:18847480] synonym: "PLSVC" EXACT abbreviation [] xref: SNOMEDCT_US:77978002 xref: UMLS:C0265931 is_a: HP:0025575 ! Abnormal superior vena cava morphology [Term] id: HP:0005302 name: Carotid artery tortuosity def: "Abnormal tortuous (i.e., twisted) form of the carotid arteries." [https://orcid.org/0000-0002-0736-9199] synonym: "Tortuous carotid arteries" EXACT [] xref: SNOMEDCT_US:401051003 xref: UMLS:C1303076 is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0005344 ! Abnormal carotid artery morphology [Term] id: HP:0005303 name: Aortic arch calcification def: "Calcification, that is, pathological deposition of calcium salts in the arch of aorta." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1969291 is_a: HP:0004962 ! Thoracic aorta calcification [Term] id: HP:0005304 name: Hypoplastic pulmonary veins synonym: "Underdeveloped lung veins" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1970501 is_a: HP:0030968 ! Abnormal pulmonary vein morphology [Term] id: HP:0005305 name: Cerebral venous thrombosis def: "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in cerebral vein" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Cerebral thrombosis" EXACT [] synonym: "Cerebral vein thrombosis" EXACT [] xref: SNOMEDCT_US:95455008 xref: UMLS:C0151945 is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0005306 name: Capillary hemangioma def: "The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Capillary hemangiomata" EXACT plural_form [] synonym: "Strawberry birthmark" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:195382003 xref: SNOMEDCT_US:254206003 xref: SNOMEDCT_US:402867006 xref: SNOMEDCT_US:56975005 xref: SNOMEDCT_US:83343001 xref: UMLS:C0206733 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0005307 name: Postural hypotension with compensatory tachycardia xref: UMLS:C1850438 is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0005308 name: Pulmonary artery vasoconstriction xref: UMLS:C1867424 is_a: HP:0030967 ! Abnormal pulmonary artery physiology [Term] id: HP:0005309 name: obsolete Peripheral vascular insufficiency is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005310 name: Large vessel vasculitis def: "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:16088500] xref: UMLS:C4025218 is_a: HP:0034784 ! Vasculitis by anatomical site [Term] id: HP:0005311 name: Agenesis of pulmonary vessels def: "A developmental defect characterized by the lack of formation of the pulmonary blood vessels." [] synonym: "Absent lung vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1970630 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005312 name: Pulmonary aterial intimal fibrosis def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation." [https://orcid.org/0000-0002-0736-9199] comment: Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome. xref: UMLS:C4025217 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0005313 name: Arterial fibromuscular dysplasia def: "An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer." [PMID:27939641] comment: Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus. xref: SNOMEDCT_US:31653004 xref: SNOMEDCT_US:359553002 xref: UMLS:C0016052 is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0005314 name: Anomalous branches of internal carotid artery xref: UMLS:C1847886 is_a: HP:0005344 ! Abnormal carotid artery morphology [Term] id: HP:0005315 name: obsolete Peripheral artery occlusive disease is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005316 name: Peripheral pulmonary vessel aplasia xref: UMLS:C1848877 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005317 name: Increased pulmonary vascular resistance def: "Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units." [] xref: UMLS:C1867423 is_a: HP:0030875 ! Abnormality of pulmonary circulation [Term] id: HP:0005318 name: Cerebral vasculitis def: "Inflammation of the blood vessels within the brain." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:427020007 xref: UMLS:C0238051 is_a: HP:0034784 ! Vasculitis by anatomical site is_a: HP:0100659 ! Abnormal cerebral vascular morphology [Term] id: HP:0005320 name: Lack of facial subcutaneous fat synonym: "Lack of facial fat below the skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3277426 is_a: HP:0003717 ! Minimal subcutaneous fat [Term] id: HP:0005321 name: Mandibulofacial dysostosis def: "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations." [https://orcid.org/0000-0002-0736-9199] synonym: "Treacher Collins syndrome" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:82203000 xref: UMLS:C0242387 is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0005322 name: Prominent nasal septum synonym: "Low hanging nasal septum" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Low hanging septum of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nasal septum" EXACT layperson [] synonym: "Prominent septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Visible nasal septum" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Visible septum of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025216 xref: UMLS:C4280489 xref: UMLS:C4280490 is_a: HP:0000419 ! Abnormal nasal septum morphology [Term] id: HP:0005323 name: Hemifacial hypertrophy def: "Unilateral overgrowth of facial tissues, including muscles, bones and skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Enlargement of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial hemihyperplasia" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Facial hemihypertophy" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Friedreich's disease" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hemifacial enlargement" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increase in size of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:10394003 xref: SNOMEDCT_US:697962004 xref: UMLS:C0016719 xref: UMLS:C1399354 is_a: HP:0000324 ! Facial asymmetry [Term] id: HP:0005324 name: Disturbance of facial expression def: "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed." [https://orcid.org/0000-0003-2958-5076] synonym: "Disturbance of facial expression" EXACT layperson [] xref: UMLS:C4025215 is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0005325 name: Extension of hair growth on temples to lateral eyebrow def: "A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows." [https://orcid.org/0000-0002-0736-9199] synonym: "Unusual hairline with hair growth on temples extending to lateral eyebrow" EXACT [] xref: UMLS:C1857455 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0005326 name: Hypoplastic philtrum alt_id: HP:0005331 def: "Underdevelopment of the philtrum." [https://orcid.org/0000-0002-0736-9199] synonym: "Small philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856886 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0005327 name: Loss of facial expression synonym: "Loss of facial expression" EXACT layperson [] xref: UMLS:C1852476 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005328 name: Progeroid facial appearance alt_id: HP:0000335 alt_id: HP:0005333 def: "A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Aged facial appearance" EXACT [] synonym: "Premature aged appearance" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Prematurely aged face" EXACT [] synonym: "Prematurely aged facial appearance" EXACT [] synonym: "Wizened face" EXACT [] xref: UMLS:C1857710 is_a: HP:0007495 ! Prematurely aged appearance [Term] id: HP:0005329 name: Fixed facial expression synonym: "Fixed facial expression" EXACT layperson [] synonym: "Unchanging facial expression" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855353 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005332 name: Recurrent mandibular subluxations def: "Recurrent partial dislocations of the mandible." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857011 is_a: HP:0000277 ! Abnormal mandible morphology is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0005335 name: Sleepy facial expression synonym: "Sleepy facial expression" EXACT layperson [] synonym: "Somnolent facial expression" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025214 is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0005336 name: Forehead hyperpigmentation synonym: "Darkening of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1969673 is_a: HP:0000290 ! Abnormal forehead morphology is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0005338 name: Sparse lateral eyebrow alt_id: HP:0004521 alt_id: HP:0009923 def: "Decreased density/number and/or decreased diameter of lateral eyebrow hairs." [https://orcid.org/0000-0002-0736-9199] comment: Abnormal sparseness of the eyebrows laterally. subset: hposlim_core synonym: "Lateral hypoplasia of eyebrows" EXACT [] synonym: "Lateral thinning of eyebrows" EXACT [] synonym: "Laterally sparse eyebrow" EXACT [] synonym: "Laterally sparse eyebrows" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Limited hair on end of eyebrow" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Sparse lateral eyebrows" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1857206 is_a: HP:0045075 ! Sparse eyebrow [Term] id: HP:0005339 name: Abnormality of complement system alt_id: HP:0025541 def: "An abnormality of the complement system." [https://orcid.org/0000-0002-0736-9199, PMID:19388161] comment: The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. xref: UMLS:C4025213 is_a: HP:0005368 ! Abnormality of humoral immunity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T07:58:00Z [Term] id: HP:0005340 name: Spastic/hyperactive bladder xref: UMLS:C1836904 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0005341 name: Autonomic bladder dysfunction def: "Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025212 is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0005343 name: Hypoplasia of the bladder alt_id: HP:0005342 def: "Underdevelopment of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic bladder" EXACT [] synonym: "Underdeveloped bladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855335 is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder [Term] id: HP:0005344 name: Abnormal carotid artery morphology def: "Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches." [] synonym: "Abnormality of the carotid arteries" EXACT [] xref: UMLS:C4025211 is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T06:37:00Z [Term] id: HP:0005345 name: Abnormal vena cava morphology alt_id: HP:0030971 def: "An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava." [] synonym: "Abnormality of the vena cava" RELATED [] xref: UMLS:C4025210 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:0030962 ! Abnormal morphology of the great vessels property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T06:40:00Z [Term] id: HP:0005346 name: Abnormal facial expression synonym: "Abnormal facial expression" EXACT layperson [] xref: UMLS:C4025209 is_a: HP:0000271 ! Abnormality of the face property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T06:44:00Z [Term] id: HP:0005347 name: Tracheal cartilaginous sleeve def: "Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes." [PMID:25375853] xref: UMLS:C1863363 is_a: HP:0004468 ! Anomalous tracheal cartilage [Term] id: HP:0005348 name: Inspiratory stridor def: "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:58596002 xref: UMLS:C0677600 is_a: HP:0010307 ! Stridor [Term] id: HP:0005349 name: Hypoplasia of the epiglottis alt_id: HP:0008746 def: "Hypoplasia of the epiglottis." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic epiglottis" EXACT [] xref: UMLS:C1396772 is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis [Term] id: HP:0005352 name: Severe T-cell immunodeficiency def: "A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms." [PMID:18755723] comment: Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS). synonym: "Severe T-cell immunodeficiency" EXACT layperson [] xref: UMLS:C4025208 is_a: HP:0005374 ! Cellular immunodeficiency [Term] id: HP:0005353 name: Recurrent herpes def: "Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus." [] synonym: "Susceptibility to herpesvirus" EXACT layperson [] xref: UMLS:C4025207 is_a: HP:0034318 ! Unusual virus reactivation [Term] id: HP:0005354 name: Absent cellular immunity def: "Complete inability of T cells to perform their functions in cell-mediated immunity." [] synonym: "Lack of T cell function" EXACT [] xref: UMLS:C1849426 is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0005356 name: Decreased circulating complement factor I concentration def: "Concentration of the complement component factor I in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum complement factor I" EXACT [] xref: UMLS:C1970257 is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0005357 name: Defective B cell differentiation def: "Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity." [GO:0030183] xref: UMLS:C1859624 is_a: HP:0005384 ! Defective B cell activation [Term] id: HP:0005359 name: Aplasia of the thymus def: "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent thymic shadow" RELATED [] synonym: "Absent thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Athymia" EXACT [] synonym: "Lack of thymic shadow" RELATED [] xref: SNOMEDCT_US:702623002 xref: SNOMEDCT_US:91918005 xref: UMLS:C0685894 is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus [Term] id: HP:0005360 name: Susceptibility to chickenpox def: "Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox." [] xref: UMLS:C1855205 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005363 name: Humoral immunodeficiency def: "A general term referring to a defect in immunity resulting from impaired antibody production." [] comment: If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency. xref: UMLS:C4025206 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005364 name: obsolete Severe viral infections is_obsolete: true replaced_by: HP:0004429 [Term] id: HP:0005365 name: Severe B lymphocytopenia alt_id: HP:0002856 def: "A severe form of B lymphocytopenia in which the count of B cells is very low or absent." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of B cells" RELATED [] synonym: "Absent B cells" EXACT [] xref: UMLS:C1863715 xref: UMLS:C4020824 is_a: HP:0010976 ! Decreased total B cell count [Term] id: HP:0005366 name: Recurrent streptococcus pneumoniae infections def: "Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2169794 is_a: HP:0002205 ! Recurrent respiratory infections is_a: HP:0020096 ! Recurrent streptococcal infections [Term] id: HP:0005368 name: Abnormality of humoral immunity def: "An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system." [https://orcid.org/0000-0002-0736-9199] synonym: "Defective humoral immunity" EXACT [] xref: UMLS:C3150510 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0005369 name: Decreased circulating complement factor H concentration def: "Concentration of the complement component factor H in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum complement factor H" EXACT [] xref: UMLS:C1969222 is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0005372 name: Abnormality of B cell physiology alt_id: HP:0005398 def: "An abnormality of the physiological functioning of B cells." [https://orcid.org/0000-0002-0736-9199] comment: This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. synonym: "Abnormality of B cell physiology" EXACT layperson [] synonym: "Reduced B cell function" EXACT layperson [] xref: UMLS:C1849242 is_a: HP:0031409 ! Abnormal lymphocyte physiology [Term] id: HP:0005374 name: Cellular immunodeficiency alt_id: HP:0005375 def: "An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity." [http://www.dictionary.com/browse/cellular-immunodeficiency] xref: UMLS:C1855204 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005375 name: obsolete Partial cellular immunodeficiency is_obsolete: true replaced_by: HP:0005374 [Term] id: HP:0005376 name: Recurrent Haemophilus influenzae infections def: "Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent H. influenzae infections" EXACT [] xref: UMLS:C4025204 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0005379 name: obsolete Severe T lymphocytopenia is_obsolete: true consider: HP:0005403 [Term] id: HP:0005381 name: Recurrent meningococcal disease alt_id: HP:0005414 def: "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased susceptibility to neisseria meningitidis infections" EXACT layperson [] xref: UMLS:C1970263 is_a: HP:0005430 ! Recurrent Neisserial infections [Term] id: HP:0005384 name: Defective B cell activation def: "A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of" [http://www.wikidata.org/entity/Q1951035, ISBN:0781735149] xref: UMLS:C1846551 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0005386 name: Recurrent protozoan infections def: "Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025202 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005387 name: Combined immunodeficiency def: "A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications." [PMID:23321211] xref: UMLS:C0494261 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005389 name: Depletion of components of the alternative complement pathway def: "An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products." [https://en.wikipedia.org/wiki/Alternative_complement_pathway] xref: UMLS:C1969220 is_a: HP:0005482 ! Abnormality of the alternative complement pathway [Term] id: HP:0005390 name: Recurrent opportunistic infections alt_id: HP:0005426 def: "Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent opportunistic infections" EXACT [] xref: UMLS:C1832324 is_a: HP:0002719 ! Recurrent infections is_a: HP:0031690 ! Opportunistic infection [Term] id: HP:0005396 name: Susceptibility to coronavirus 229e def: "Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e." [] xref: UMLS:C1852539 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005397 name: obsolete Exaggerated cellular immune processes is_obsolete: true consider: HP:0011840 [Term] id: HP:0005400 name: Reduction of neutrophil motility def: "An abnormal reduction of the cell motility of neutrophils." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025201 is_a: HP:0011990 ! Abnormal neutrophil physiology [Term] id: HP:0005401 name: Recurrent candida infections def: "An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent candida infections" EXACT [] xref: UMLS:C1860128 is_a: HP:0002841 ! Recurrent fungal infections [Term] id: HP:0005402 name: obsolete Primary T-lymphocyte immune abnormalities is_obsolete: true replaced_by: HP:0011840 [Term] id: HP:0005403 name: Decreased total T cell count alt_id: HP:0005412 alt_id: HP:0045071 def: "The absolute number of T cells per volume is below the lower limit of normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Decrease in T cell count" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Decrease in T cell number" EXACT [] synonym: "Decreased numbers of circulating T cells" EXACT [] synonym: "Low T cell count" EXACT layperson [] synonym: "Reduced number of T cells" EXACT layperson [] synonym: "T cell lymphopenia" EXACT [] synonym: "T lymphocytopenia" EXACT [] xref: UMLS:C2931322 is_a: HP:0011839 ! Abnormal T cell count [Term] id: HP:0005404 name: Increased total B cell count def: "The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group." [https://orcid.org/0000-0002-0736-9199, PMID:32569607] synonym: "B cell lymphocytosis" EXACT [] synonym: "Increase in B cell count" EXACT [] synonym: "Increase in B cell number" EXACT [] synonym: "Increased number of B cells" EXACT [] xref: UMLS:C1858972 is_a: HP:0025806 ! Abnormal total B cell count [Term] id: HP:0005406 name: Recurrent bacterial skin infections alt_id: HP:0000983 def: "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis." [https://orcid.org/0000-0002-0736-9199] comment: Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. synonym: "Recurrent bacterial skin infections" EXACT layperson [] synonym: "Recurrent cutaneous pyogenic infections" EXACT [] synonym: "Recurrent episodes of impetigo" EXACT [] synonym: "Recurrent episodes of infectious dermatitis" EXACT [] synonym: "Recurrent pyogenic skin infections" EXACT [] xref: UMLS:C1835686 is_a: HP:0001581 ! Recurrent skin infections is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005407 name: obsolete Decreased proportion of CD4-positive helper T cells is_obsolete: true replaced_by: HP:0032218 [Term] id: HP:0005409 name: obsolete Markedly reduced T cell function is_obsolete: true replaced_by: HP:0011840 [Term] id: HP:0005411 name: Chronic intestinal candidiasis def: "Persistent overgrowth of Candida albicans in the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Candida overgrowth syndrome" RELATED [] xref: UMLS:C4020823 xref: UMLS:C4025199 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0005413 name: Increased alpha-globulin def: "An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant." [PMID:15663032] xref: SNOMEDCT_US:124022007 xref: UMLS:C1167806 is_a: HP:0032311 ! Increased circulating globulin level [Term] id: HP:0005415 name: Decreased CD8+ T cell proportion alt_id: HP:0005481 def: "Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population." [https://orcid.org/0000-0002-0736-9199] synonym: "CD8+ T-cell lymphopenia" EXACT [] synonym: "Decreased proportion of CD8+ T cells" EXACT [] synonym: "Decreased proportion of CD8-positive T cells" EXACT [] synonym: "Decreased proportion of CD8-positive, alpha-beta T cells" EXACT [] xref: UMLS:C1839305 is_a: HP:0031393 ! Abnormal CD8+ T cell proportion [Term] id: HP:0005416 name: Decreased circulating complement factor B concentration def: "Concentration of the complement component factor B in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum complement factor B" EXACT [] synonym: "Decreased serum factor b" EXACT [] xref: UMLS:C4021636 is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0005419 name: Decreased T cell activation alt_id: HP:0005370 alt_id: HP:0005436 def: "Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [ISBN:0781735149] synonym: "Decreased T lymphocyte activation" EXACT [] synonym: "Decreased T-cell activation" EXACT [] synonym: "Decreased T-lymphocyte activation" EXACT [] synonym: "Defective T cell activation" EXACT [] synonym: "Profound depletion of T4+ lymphocytes" EXACT [] xref: UMLS:C1846550 is_a: HP:0410035 ! Abnormal T cell activation [Term] id: HP:0005420 name: Recurrent gram-negative bacterial infections alt_id: HP:0005395 def: "Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents." [https://orcid.org/0000-0002-0736-9199] comment: Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane. xref: UMLS:C4025198 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005421 name: Decreased circulating complement C3 concentration alt_id: HP:0005408 def: "Concentration of the complement component C3 in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum C3" EXACT [] synonym: "Decreased serum complement C3" EXACT [] synonym: "Decreased serum complement C3 level" EXACT [] xref: UMLS:C1837512 is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0005422 name: Absence of CD8-positive T cells def: "Lack of detectible CD8-positive T cells" [] synonym: "Absence of CD8+ T cells" EXACT [] xref: UMLS:C4025197 is_a: HP:0005415 ! Decreased CD8+ T cell proportion [Term] id: HP:0005423 name: Dysfunctional alternative complement pathway def: "An abnormality of the functioning of any aspect of the alternative complement pathway." [] xref: UMLS:C1839458 is_a: HP:0005482 ! Abnormality of the alternative complement pathway [Term] id: HP:0005424 name: Absent specific antibody response def: "Absence of specific immunoglobulins directed against a specific antigen or microorganism." [PMID:17100769] xref: UMLS:C1863246 is_a: HP:0012475 ! Decreased circulating level of specific antibody [Term] id: HP:0005425 name: Recurrent sinopulmonary infections def: "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic sinopulmonary infection" EXACT [] synonym: "Recurrent sinus and lung infections" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1846546 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0005428 name: Severe recurrent varicella xref: UMLS:C1833487 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005429 name: Recurrent systemic pyogenic infections def: "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections." [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4025196 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005430 name: Recurrent Neisserial infections alt_id: HP:0005377 alt_id: HP:0005378 def: "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodes of neisserial infection" EXACT [] synonym: "Recurrent neisseria infections" EXACT [] xref: UMLS:C3151083 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0005432 name: Transient hypogammaglobulinemia of infancy def: "At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Newborn gammaglobulin deficiency" RELATED [] xref: SNOMEDCT_US:88714009 xref: UMLS:C0272238 xref: UMLS:C4020822 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration [Term] id: HP:0005435 name: obsolete Impaired T cell function is_obsolete: true replaced_by: HP:0011840 [Term] id: HP:0005437 name: Recurrent infections in infancy and early childhood def: "Recurrent infections at an early age with improvement in later childhood." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1844909 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005439 name: Maxillozygomatic hypoplasia def: "Hypoplasia of the maxillozygomatic complex." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased projection of zygomaticomaxillary bone complex" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of zygomaticomaxillary bone complex" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of zygomaticomaxillary bone complex" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of malar bone complex" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of zygomaticomaxillary complex" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of zygomaticomaxillary bone complex" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1848908 xref: UMLS:C4280488 is_a: HP:0000327 ! Hypoplasia of the maxilla is_a: HP:0010669 ! Hypoplasia of the zygomatic bone [Term] id: HP:0005441 name: Sclerotic cranial sutures def: "An increased density in the cranial sutures following obliteration." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025195 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005442 name: Widely patent coronal suture def: "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856778 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005445 name: Enlarged posterior fossa def: "Abnormal increased size of the posterior cranial fossa." [PMID:28295149] synonym: "Widened posterior fossa" EXACT [] xref: UMLS:C1855889 is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology [Term] id: HP:0005446 name: Obtuse angle of mandible def: "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal." [https://orcid.org/0000-0002-0736-9199] comment: See PMID:17213440 Figure 1G for an example of an obtuse mandibular angle. synonym: "High mandibular plane angle" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Steep mandibular plane angle" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:709997007 xref: UMLS:C4038738 is_a: HP:0000277 ! Abnormal mandible morphology [Term] id: HP:0005449 name: Bridged sella turcica xref: UMLS:C1866959 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005450 name: Calvarial osteosclerosis def: "An increase in bone density affecting the calvaria (roof of the skull)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855657 is_a: HP:0005464 ! Craniofacial osteosclerosis [Term] id: HP:0005451 name: Decreased cranial base ossification xref: UMLS:C1835442 is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005453 name: Absent/hypoplastic paranasal sinuses def: "Aplasia or hypoplasia of the paranasal sinuses." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1856639 is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses [Term] id: HP:0005456 name: Absent ethmoidal sinuses def: "Lack (aplasia) of the ethmoidal sinus." [https://orcid.org/0000-0002-0736-9199] synonym: "Agenesis of ethmoid sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of ethmoid sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing ethmoid sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025194 is_a: HP:0002689 ! Absent paranasal sinuses is_a: HP:3000040 ! Abnormality of ethmoid sinus [Term] id: HP:0005458 name: Premature closure of fontanelles def: "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481] synonym: "Early closure of the bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Early closure of the cranial sutures" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Early closure of the fontanelles" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Obliterated fontanelles" EXACT [] synonym: "Premature closure of the bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Premature closure of the cranial sutures" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Premature fontanel closure" EXACT [] xref: SNOMEDCT_US:1667003 xref: SNOMEDCT_US:57219006 xref: UMLS:C0010278 xref: UMLS:C0277827 xref: UMLS:C4072853 is_a: HP:0011328 ! Abnormal fontanelle morphology [Term] id: HP:0005461 name: Craniofacial disproportion xref: UMLS:C1867114 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0005462 name: Calcification of falx cerebri def: "The presence of calcium deposition in the falx cerebri." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1397139 is_a: HP:0002514 ! Cerebral calcification is_a: HP:0010653 ! Abnormality of the falx cerebri [Term] id: HP:0005463 name: Elongated sella turcica xref: UMLS:C1863311 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005464 name: Craniofacial osteosclerosis def: "Abnormally increased density of craniofacial bone tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Cranial sclerosis" RELATED [] xref: UMLS:C1845805 xref: UMLS:C4025193 is_a: HP:0011001 ! Increased bone mineral density is_a: HP:0011821 ! Abnormal facial skeleton morphology [Term] id: HP:0005465 name: Facial hyperostosis alt_id: HP:0008508 def: "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Enlargement of facial bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Enlargement of facial skeleton" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Enlargement of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive growth of facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive growth of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of facial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of facial skeleton" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of facial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of facial skeleton" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of the facial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increase in size of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of facial bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of facial skeleton" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of the facial bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1857501 xref: UMLS:C4280485 xref: UMLS:C4280486 xref: UMLS:C4280487 is_a: HP:0004493 ! Craniofacial hyperostosis [Term] id: HP:0005466 name: Hypoplasia of the frontal bone alt_id: HP:0005493 def: "Underdevelopment of the frontal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased size of bone of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic frontal bones" EXACT [] synonym: "Hypotrophic frontal bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic frontal bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small bone of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin bone of forehead" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of bone of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845147 xref: UMLS:C4280483 xref: UMLS:C4280484 is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0011218 ! Abnormal shape of the frontal region [Term] id: HP:0005469 name: Flat occiput alt_id: HP:0000247 alt_id: HP:0000249 def: "Reduced convexity of the occiput (posterior part of skull)." [PMID:19125436] comment: Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. subset: hposlim_core synonym: "Flat back of skull" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Flat back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat back of the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Posterior flattening of the skull" EXACT [] xref: UMLS:C1837402 xref: UMLS:C4280482 is_a: HP:0011217 ! Abnormal shape of the occiput [Term] id: HP:0005472 name: Orbital craniosynostosis xref: UMLS:C4025192 is_a: HP:0001363 ! Craniosynostosis is_a: HP:3000030 ! Abnormal morphology of bony orbit of skull [Term] id: HP:0005473 name: Fusion of middle ear ossicles def: "Bony fusion of malleus, incus, and stapes." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused ossicles" EXACT [] xref: UMLS:C1862068 is_a: HP:0004452 ! Abnormality of the middle ear ossicles is_a: HP:0100240 ! Synostosis of joints [Term] id: HP:0005474 name: Decreased calvarial ossification alt_id: HP:0002701 alt_id: HP:0002702 alt_id: HP:0005454 alt_id: HP:0005471 def: "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [https://orcid.org/0000-0001-8612-1062, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481, PMID:31173381] comment: A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualization of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy. synonym: "Poorly ossified calvaria" EXACT [] synonym: "Poorly ossified calvarium" EXACT [] synonym: "Skull soft on palpation" RELATED [] synonym: "Soft calvaria" EXACT [] synonym: "Soft skullcap" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Undermineralized calvarium" EXACT [] xref: UMLS:C1833762 is_a: HP:0002683 ! Abnormal calvaria morphology is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005476 name: Widely patent sagittal suture def: "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856779 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005477 name: Progressive sclerosis of skull base def: "Progressively increasing bone density of the skull base without significant changes in bony contour." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1835470 is_a: HP:0002694 ! Sclerosis of skull base [Term] id: HP:0005478 name: Prominent frontal sinuses synonym: "Hyperplasia of frontal sinus" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of frontal sinus" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of frontal sinus" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of frontal sinus" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large frontal sinus" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1969404 xref: UMLS:C4280265 xref: UMLS:C4280479 xref: UMLS:C4280480 xref: UMLS:C4280481 is_a: HP:0002687 ! Abnormality of frontal sinus [Term] id: HP:0005479 name: Decreased circulating IgE concentration alt_id: HP:0002854 def: "An abnormally decreased level of immunoglobulin E (IgE) in blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased circulating IgE" EXACT [] synonym: "Decreased IgE" EXACT [] synonym: "IgE deficiency" EXACT [] xref: UMLS:C0860904 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration is_a: HP:0410241 ! Abnormal circulating IgE concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T08:03:00Z [Term] id: HP:0005482 name: Abnormality of the alternative complement pathway def: "A deviation in any aspect of the alternative complement pathway." [] comment: The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. {xref="PMID:16424154"} xref: UMLS:C4025191 is_a: HP:0005339 ! Abnormality of complement system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T08:12:00Z [Term] id: HP:0005483 name: Abnormal epiglottis morphology def: "An abnormality of the epiglottis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the epiglottis" EXACT [] xref: UMLS:C4025190 is_a: HP:0025423 ! Abnormal larynx morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-26T08:25:00Z [Term] id: HP:0005484 name: Secondary microcephaly alt_id: HP:0000241 alt_id: HP:0000259 alt_id: HP:0005499 def: "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Acquired microcephaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deceleration of head growth" EXACT [] synonym: "Development of small head that was not present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Microcephaly, acquired" EXACT [] synonym: "Microcephaly, postnatal" EXACT [] synonym: "Postnatal deceleration of head circumference" EXACT [] synonym: "Postnatal microcephaly" EXACT [] xref: UMLS:C1847514 is_a: HP:0000252 ! Microcephaly [Term] id: HP:0005486 name: Small fontanelle def: "A fontanelle that is small for age." [https://orcid.org/0000-0002-0736-9199, PMID:12825844] subset: hposlim_core synonym: "Little cranial sutures" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Little fontanelle" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Microfontanelle" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Small cranial sutures" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small soft spot" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:276710001 xref: UMLS:C0456133 xref: UMLS:C4072854 xref: UMLS:C4072855 is_a: HP:0011328 ! Abnormal fontanelle morphology [Term] id: HP:0005487 name: Prominent metopic ridge alt_id: HP:0005488 alt_id: HP:0005751 def: "Vertical bony ridge positioned in the midline of the forehead." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. subset: hposlim_core synonym: "Prominent frontal ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent frontal suture" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent metopic suture" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Ridging of frontal suture" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Ridging of metopic suture" EXACT [] xref: UMLS:C1857949 is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005490 name: Postnatal macrocephaly def: "The postnatal development of an abnormally large skull (macrocephaly)." [https://orcid.org/0000-0002-0736-9199] synonym: "Macrocephaly, postnatal" EXACT [] xref: UMLS:C1854417 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0005494 name: Premature posterior fontanelle closure xref: UMLS:C1839126 is_a: HP:0005458 ! Premature closure of fontanelles [Term] id: HP:0005495 name: Metopic suture patent to nasal root def: "The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root." [https://orcid.org/0000-0002-0736-9199, PMID:11711818] comment: This feature is a characteristic of Schinzel-Giedion midface retraction syndrome. xref: UMLS:C4025189 is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005498 name: Midline skin dimples over anterior/posterior fontanelles xref: UMLS:C1855690 is_a: HP:0000236 ! Abnormal anterior fontanelle morphology [Term] id: HP:0005502 name: Increased red cell osmotic fragility synonym: "Increased erythrocyte osmotic fragility" EXACT [] synonym: "Increased red cell fragility" EXACT [] xref: UMLS:C1849478 is_a: HP:0020054 ! Abnormal erythrocyte physiology [Term] id: HP:0005505 name: Refractory anemia synonym: "Refractory anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:128845005 xref: UMLS:C0002893 is_a: HP:0001903 ! Anemia [Term] id: HP:0005506 name: Chronic myelogenous leukemia alt_id: HP:0005544 def: "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic myelocytic leukaemia" EXACT uk_spelling [] synonym: "Chronic myelocytic leukemia" EXACT [] synonym: "Chronic myelogenous leukaemia" EXACT uk_spelling [] synonym: "Chronic myeloid leukaemia" EXACT uk_spelling [] synonym: "Chronic myeloid leukemia" EXACT [] xref: DOID:8552 "chronic myeloid leukemia" xref: SNOMEDCT_US:63364005 xref: SNOMEDCT_US:92818009 xref: UMLS:C0023473 is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005507 name: Hemoglobin Barts def: "Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues." [https://orcid.org/0000-0002-0736-9199] comment: Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease. synonym: "Haemoglobin Barts" EXACT uk_spelling [] synonym: "Hb Barts" EXACT abbreviation [] xref: UMLS:C3539063 is_a: HP:0011902 ! Abnormal hemoglobin [Term] id: HP:0005508 name: Monoclonal immunoglobulin M proteinemia def: "Presence of a monoclonal immunoglobulin M protein in the serum." [https://orcid.org/0000-0002-0736-9199, PMID:25815903] comment: This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. synonym: "Waldenstrom macroglobulinemia" RELATED [] xref: SNOMEDCT_US:190817009 xref: SNOMEDCT_US:190818004 xref: SNOMEDCT_US:35562000 xref: UMLS:C0024419 is_a: HP:0003496 ! Increased circulating IgM level is_a: HP:0005523 ! Lymphoproliferative disorder is_a: HP:0031047 ! Paraproteinemia [Term] id: HP:0005510 name: Transient erythroblastopenia def: "A transient reduction in the number of erythroblasts in the circulation." [https://orcid.org/0000-0002-0736-9199] comment: An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. synonym: "Transient decrease in blood erythrocyte number" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4082199 is_a: HP:0001903 ! Anemia [Term] id: HP:0005511 name: Heinz body anemia def: "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells." [https://orcid.org/0000-0002-0736-9199] synonym: "Heinz body anaemia" EXACT uk_spelling [] xref: UMLS:C0700299 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005512 name: obsolete Impaired neutrophil killing of staphylococci is_obsolete: true replaced_by: HP:0003203 [Term] id: HP:0005513 name: Increased megakaryocyte count def: "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025187 is_a: HP:0012143 ! Abnormal megakaryocyte morphology [Term] id: HP:0005517 name: T-cell lymphoma/leukemia def: "A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas." [https://orcid.org/0000-0002-0736-9199] comment: T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1). xref: UMLS:C4025186 is_a: HP:0012190 ! T-cell lymphoma [Term] id: HP:0005518 name: Increased mean corpuscular volume alt_id: HP:0005536 def: "Larger than normal size of erythrocytes." [https://orcid.org/0000-0002-0736-9199] comment: Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits. synonym: "Erythrocyte macrocytosis" EXACT [] synonym: "Increased MCV" EXACT abbreviation [] xref: UMLS:C0855791 is_a: HP:0025065 ! Abnormal mean corpuscular volume [Term] id: HP:0005520 name: Chronic disseminated intravascular coagulation def: "A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic consumption coagulopathy" EXACT [] synonym: "Compensated disseminated intravascular coagulation" EXACT [] xref: UMLS:C1862184 is_a: HP:0005521 ! Disseminated intravascular coagulation [Term] id: HP:0005521 name: Disseminated intravascular coagulation def: "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels." [https://orcid.org/0000-0002-0736-9199, PMID:10451465, PMID:11816725] comment: DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. xref: SNOMEDCT_US:67406007 xref: UMLS:C0012739 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0005522 name: Pyridoxine-responsive sideroblastic anemia def: "A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment." [https://orcid.org/0000-0002-0736-9199] synonym: "Pyridoxine-responsive sideroblastic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:191260004 xref: SNOMEDCT_US:25443007 xref: UMLS:C0272027 is_a: HP:0001924 ! Sideroblastic anemia [Term] id: HP:0005523 name: Lymphoproliferative disorder synonym: "Lymphoproliferative disorders" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:277466009 xref: SNOMEDCT_US:414629003 xref: SNOMEDCT_US:77121009 xref: SNOMEDCT_US:84631004 xref: UMLS:C0024314 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0005524 name: Macrocytic hemolytic disease xref: UMLS:C4025185 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005525 name: Spontaneous hemolytic crises xref: UMLS:C4025184 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005526 name: Lymphoid leukemia def: "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539] synonym: "Lymphoid leukaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:188725004 xref: SNOMEDCT_US:32280000 xref: UMLS:C0023448 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005527 name: Reduced kininogen activity alt_id: HP:0004867 alt_id: HP:0005500 alt_id: HP:0005530 alt_id: HP:0005538 def: "Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790] comment: Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor. synonym: "Fitzgerald factor deficiency" EXACT [] synonym: "Kininogen deficiency" EXACT [] synonym: "Williams factor deficiency" EXACT [] synonym: "Williams-Fitzgerald-Flaujeac factor deficiency" EXACT [] xref: SNOMEDCT_US:27312002 xref: UMLS:C0272340 is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0005528 name: Bone marrow hypocellularity alt_id: HP:0005529 alt_id: HP:0100549 def: "A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790] synonym: "Bone marrow failure" EXACT layperson [] synonym: "Bone marrow hypoplasia" EXACT [] synonym: "Hypoplastic bone marrow" EXACT [] synonym: "Myeloid hypoplasia" EXACT [] xref: UMLS:C1855710 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0005531 name: Biphenotypic acute leukemia def: "A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias." [https://orcid.org/0000-0002-0736-9199, PMID:9107085] synonym: "Acute biphenotypic leukaemia" EXACT uk_spelling [] synonym: "Biphenotypic acute leukaemia" EXACT uk_spelling [] synonym: "Myeloid/lymphoid leukaemia" EXACT uk_spelling [] synonym: "Myeloid/lymphoid leukemia" EXACT [] xref: SNOMEDCT_US:128818009 xref: SNOMEDCT_US:278453007 xref: UMLS:C0023464 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0005532 name: Macrocytic dyserythropoietic anemia synonym: "Macrocytic dyserythropoietic anaemia" EXACT uk_spelling [] xref: UMLS:C4025183 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0005534 name: Transient myeloproliferative syndrome def: "A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts." [PMID:22966823] synonym: "TMD" EXACT abbreviation [] synonym: "Transient leukaemia of Down syndrome" EXACT uk_spelling [] synonym: "Transient leukemia of Down syndrome" EXACT [] synonym: "Transient myeloproliferative disorder" EXACT [] xref: SNOMEDCT_US:450934005 xref: UMLS:C1834582 is_a: HP:0005547 ! Myeloproliferative disorder [Term] id: HP:0005535 name: Exercise-induced hemolysis def: "A form of hemolytic anemia that can be triggered by exertion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025182 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005537 name: Decreased mean platelet volume alt_id: HP:0001938 def: "Average platelet volume below the lower limit of the normal reference interval." [https://orcid.org/0000-0002-7744-1790] comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). synonym: "Small platelet size" EXACT layperson [] synonym: "Small platelets" EXACT layperson [] synonym: "Small platelets size" EXACT layperson [] xref: UMLS:C1096368 xref: UMLS:C1833182 is_a: HP:0011876 ! Abnormal platelet volume [Term] id: HP:0005539 name: T cell chronic lymphocytic lymphoma/leukemia def: "A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent." [ISBN:9780721600406] xref: UMLS:C4025181 is_a: HP:0005526 ! Lymphoid leukemia [Term] id: HP:0005540 name: Red blood cell keratocytosis def: "A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns." [https://orcid.org/0000-0002-0736-9199] comment: Kerato- is derived from the Greek word for horn. synonym: "Distorted red blood cells resembling keratocytes" EXACT [] synonym: "RBC keratocytosis" EXACT abbreviation [] xref: UMLS:C4021635 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0005541 name: Congenital agranulocytosis def: "Persistent absence of detectable circulating granulocytes in the blood with no detected secondary cause. Usually a value of less than 50 granulocytes per microliter is considered to be an absence." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:89655007 xref: UMLS:C1853118 is_a: HP:0012234 ! Absence of circulating granulocytes [Term] id: HP:0005542 name: Prolonged whole-blood clotting time alt_id: HP:0003229 def: "An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot." [https://orcid.org/0000-0002-0736-9199] synonym: "Prolonged clotting time" EXACT [] xref: UMLS:C0151563 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005543 name: Reduced protein C activity def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va." [https://orcid.org/0000-0002-0736-9199] comment: Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis. synonym: "Protein C deficiency" EXACT [] xref: SNOMEDCT_US:76407009 xref: UMLS:C0398625 is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway [Term] id: HP:0005546 name: Increased red cell osmotic resistance xref: UMLS:C1858628 is_a: HP:0020054 ! Abnormal erythrocyte physiology [Term] id: HP:0005547 name: Myeloproliferative disorder def: "Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential." [https://orcid.org/0000-0002-0736-9199] comment: There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis. xref: SNOMEDCT_US:414794006 xref: SNOMEDCT_US:425333006 xref: UMLS:C0027022 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005548 name: Megakaryocytopenia def: "A reduced count of megakaryocytes." [https://orcid.org/0000-0002-0736-9199] comment: Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes. synonym: "Megakaryocytes decreased im bone marrow" EXACT [] xref: UMLS:C1858312 is_a: HP:0012143 ! Abnormal megakaryocyte morphology [Term] id: HP:0005549 name: obsolete Congenital neutropenia comment: This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset. is_obsolete: true consider: HP:0001875 [Term] id: HP:0005550 name: Chronic lymphatic leukemia alt_id: HP:0006734 alt_id: HP:0006760 def: "A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic lymphatic leukaemia" EXACT uk_spelling [] synonym: "Chronic lymphocytic leukaemia" EXACT uk_spelling [] synonym: "Chronic lymphocytic leukemia" EXACT [] xref: SNOMEDCT_US:277473004 xref: SNOMEDCT_US:51092000 xref: SNOMEDCT_US:92814006 xref: UMLS:C0023434 is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005556 name: Abnormality of the metopic suture def: "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\"." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025180 is_a: HP:0000290 ! Abnormal forehead morphology is_a: HP:0011329 ! Abnormality of cranial sutures property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T10:04:00Z [Term] id: HP:0005557 name: Abnormal zygomatic arch morphology def: "An abnormality of the zygomatic arch, also known as the cheek bone." [https://orcid.org/0000-0002-0736-9199] comment: The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone. synonym: "Abnormality of the malar arch" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the zygomatic arch" EXACT [] synonym: "Anomaly of the malar arch" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the zygomatic arch" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the malar arch" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the zygomatic arch" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the malar arch" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the zygomatic arch" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025179 is_a: HP:0010668 ! Abnormal zygomatic bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T10:20:00Z [Term] id: HP:0005558 name: Chronic leukemia def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483] synonym: "Chronic blood cancer" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Chronic leukaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:128933000 xref: SNOMEDCT_US:92812005 xref: UMLS:C1279296 xref: UMLS:C4280478 is_a: HP:0001909 ! Leukemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0005559 name: Abnormality of the kinin-kallikrein system xref: UMLS:C4025178 is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T10:34:00Z [Term] id: HP:0005560 name: Imbalanced hemoglobin synthesis def: "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia." [https://orcid.org/0000-0002-0736-9199] comment: While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography. synonym: "Imbalanced haemoglobin synthesis" EXACT uk_spelling [] synonym: "Imbalanced Hb synthesis" EXACT abbreviation [] xref: UMLS:C4025177 is_a: HP:0011902 ! Abnormal hemoglobin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T10:44:00Z [Term] id: HP:0005561 name: Abnormal bone marrow cell morphology def: "An anomaly of the form or number of cells in the bone marrow." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790] synonym: "Abnormality of bone marrow cell morphology" EXACT [] synonym: "Anomaly of the bone marrow cells" EXACT [] synonym: "Bone marrow disease" RELATED layperson [] xref: SNOMEDCT_US:127035006 xref: UMLS:C0005956 xref: UMLS:C4021634 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T10:46:00Z [Term] id: HP:0005562 name: Multiple renal cysts def: "The presence of many cysts in the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Multiple kidney cysts" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:253883006 xref: UMLS:C0431718 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0005563 name: Decreased numbers of nephrons def: "A reduction in the count of nephrons per kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Decreased numbers of glomeruli" RELATED [] synonym: "Oligonephronia" EXACT [] xref: UMLS:C1841994 xref: UMLS:C2673888 is_a: HP:0012575 ! Abnormal nephron morphology [Term] id: HP:0005564 name: Absence of renal corticomedullary differentiation alt_id: HP:0005581 def: "A lack of differentiation between renal cortex and medulla on diagnostic imaging." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent renal corticomedullary differentiation" EXACT [] synonym: "Loss of corticomedullary differentiation" EXACT [] xref: UMLS:C1849765 is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation [Term] id: HP:0005565 name: Reduced renal corticomedullary differentiation alt_id: HP:0005573 def: "Reduced differentiation between renal cortex and medulla on diagnostic imaging." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of definition of corticomedullary differentiation" EXACT [] xref: UMLS:C3807131 is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation [Term] id: HP:0005567 name: Renal magnesium wasting def: "High urine magnesium in the presence of hypomagnesemia." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: UMLS:C1835171 is_a: HP:0012607 ! Abnormal urine magnesium concentration [Term] id: HP:0005571 name: Increased renal tubular phosphate reabsorption synonym: "Increased percent tubular reabsorption of phosphorus" EXACT [] xref: UMLS:C1968910 is_a: HP:0011038 ! Abnormal renal tubular resorption [Term] id: HP:0005572 name: Decreased renal tubular phosphate excretion xref: UMLS:C1968899 is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0005574 name: Non-acidotic proximal tubulopathy def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025176 is_a: HP:0000114 ! Proximal tubulopathy [Term] id: HP:0005575 name: Hemolytic-uremic syndrome def: "A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease." [PMID:19846853, PMID:28416508] synonym: "Hemolytic uremic syndrome" EXACT [] xref: SNOMEDCT_US:111407006 xref: UMLS:C0019061 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0005576 name: Tubulointerstitial fibrosis alt_id: HP:0000129 alt_id: HP:0004714 alt_id: HP:0008171 def: "A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy." [https://orcid.org/0000-0002-0736-9199, PMID:19144691, PMID:22449945] comment: This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086) synonym: "Tubulointerstitial renal fibrosis" EXACT [] synonym: "Tubulointerstitial scarring" RELATED [] xref: UMLS:C1969372 is_a: HP:0001969 ! Abnormal tubulointerstitial morphology is_a: HP:0030760 ! Renal fibrosis [Term] id: HP:0005579 name: Impaired renal tubular reabsorption of chloride def: "Any impairment of reabsorption of chloride by the kidney." [PMID:25820368] synonym: "Impaired reabsorption of Cl" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Impaired reabsorption of Cl-" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C1846349 is_a: HP:0011038 ! Abnormal renal tubular resorption [Term] id: HP:0005580 name: Duplication of renal pelvis def: "A duplication of the renal pelvis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1839269 is_a: HP:0000075 ! Renal duplication is_a: HP:0010944 ! Abnormal renal pelvis morphology [Term] id: HP:0005583 name: Tubular basement membrane disintegration alt_id: HP:0005577 def: "DIsruption and breaking up of the basement membrane of the tubules of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction. synonym: "Disintegration of the tubular basement membrane" EXACT [] xref: UMLS:C1968618 is_a: HP:0020131 ! Abnormal tubular basement membrane morphology [Term] id: HP:0005584 name: Renal cell carcinoma alt_id: HP:0006720 def: "A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule." [https://orcid.org/0000-0002-0736-9199] comment: Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. synonym: "Cancer starting in small tubes in kidneys" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hypernephroma" EXACT [] synonym: "Renal carcinoma" EXACT [] xref: NCIT:C2916 xref: SNOMEDCT_US:41607009 xref: SNOMEDCT_US:702391001 xref: UMLS:C0007134 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0005585 name: Spotty hyperpigmentation synonym: "Patchy hyperpigmentation" EXACT [] synonym: "Spotty increased pigmentation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3806179 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0005586 name: Hyperpigmentation in sun-exposed areas synonym: "Hyperpigmentation of exposed areas" EXACT [] synonym: "Increased pigmentation in sun-exposed areas" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3805877 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0005587 name: Profuse pigmented skin lesions xref: UMLS:C1834424 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0005588 name: Patchy palmoplantar hyperkeratosis def: "A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected." [https://orcid.org/0000-0002-0736-9199] comment: Patchy palmoplantar keratoderma may develop at sites of recurrent friction. synonym: "Palmoplantar keratoderma, patchy" EXACT [] synonym: "Patchy palmoplantar keratoderma" EXACT [] xref: UMLS:C4021633 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0005590 name: Spotty hypopigmentation synonym: "Patchy depigmentation" EXACT [] synonym: "Patchy hypopigmentation" EXACT layperson [] synonym: "Spotty decreased pigmentation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3806178 is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0005592 name: Giant melanosomes in melanocytes alt_id: HP:0003342 def: "The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes." [https://orcid.org/0000-0002-0736-9199] comment: Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin. synonym: "Macromelanosomes" EXACT [] xref: UMLS:C3806221 is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0005593 name: Macular hypopigmented whorls, streaks, and patches xref: UMLS:C3806616 is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0005595 name: Generalized hyperkeratosis synonym: "Generalised hyperkeratosis" EXACT uk_spelling [] synonym: "Hyperkeratosis, generalised" EXACT uk_spelling [] synonym: "Hyperkeratosis, generalized" EXACT [] xref: UMLS:C1969913 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0005597 name: Congenital alopecia totalis def: "Loss of all scalp hair with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025175 is_a: HP:0007418 ! Alopecia totalis [Term] id: HP:0005598 name: Facial telangiectasia in butterfly midface distribution def: "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution." [https://orcid.org/0000-0002-0736-9199] synonym: "Butterfly facial telangiectasia" EXACT [] xref: UMLS:C4021632 is_a: HP:0007380 ! Facial telangiectasia [Term] id: HP:0005599 name: Hypopigmentation of hair subset: hposlim_core synonym: "Hair hypopigmentation" EXACT [] synonym: "Loss of hair color" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Loss of hair colour" EXACT uk_spelling [] xref: UMLS:C3278401 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0005600 name: Congenital giant melanocytic nevus alt_id: HP:0005604 def: "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child." [https://orcid.org/0000-0002-0736-9199, PMID:21139903] comment: Between 4% and 6% of these lesions will develop into a malignant melanoma. synonym: "Giant pigmented hairy nevus" EXACT [] synonym: "Giant pigmented mole" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Giant pigmented nevus" EXACT [] xref: SNOMEDCT_US:10291008 xref: SNOMEDCT_US:254815002 xref: UMLS:C1842036 is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005602 name: Progressive vitiligo xref: UMLS:C3806428 is_a: HP:0001045 ! Vitiligo [Term] id: HP:0005603 name: Numerous congenital melanocytic nevi xref: UMLS:C3806415 is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005605 name: Large cafe-au-lait macules with irregular margins def: "Large hypermelanotic macules with jagged borders." [https://orcid.org/0000-0002-0736-9199] comment: This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California. xref: UMLS:C4025174 is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0005606 name: Hyperpigmented nevi and streak xref: UMLS:C3805692 is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005607 name: Abnormal tracheobronchial morphology alt_id: HP:0005940 synonym: "Tracheobronchial anomalies" EXACT [] xref: Fyler:4232 xref: UMLS:C4021631 is_a: HP:0012252 ! Abnormal respiratory system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T09:03:00Z [Term] id: HP:0005608 name: Bilobate gallbladder def: "The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium." [https://orcid.org/0000-0002-0736-9199, PMID:14571173, PMID:16553121, PMID:21170223] comment: During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders. synonym: "Bilobed gallbladder" EXACT [] synonym: "Double gallbladder" EXACT [] synonym: "Gallbladder duplication" EXACT [] synonym: "Gallbladder septated" EXACT [] xref: UMLS:C1846422 is_a: HP:0034504 ! Septate gallbladder [Term] id: HP:0005609 name: Gallbladder dysfunction synonym: "Gallbladder dysfunction" EXACT layperson [] xref: SNOMEDCT_US:51047007 xref: UMLS:C0232769 is_a: HP:0012438 ! Abnormal gallbladder physiology [Term] id: HP:0005612 name: Arthrogryposis-like hand anomaly xref: UMLS:C4025173 is_a: HP:0005684 ! Distal arthrogryposis [Term] id: HP:0005613 name: Aplasia/hypoplasia of the femur alt_id: HP:0006396 alt_id: HP:0006425 def: "Absence or underdevelopment of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic to absent femora" EXACT [] synonym: "Hypoplastic/aplastic femora" EXACT [] xref: UMLS:C1851310 is_a: HP:0002823 ! Abnormal femur morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs [Term] id: HP:0005616 name: Accelerated skeletal maturation alt_id: HP:0002649 alt_id: HP:0005854 def: "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [https://orcid.org/0000-0002-0736-9199] synonym: "Advanced bone age" EXACT layperson [] synonym: "Early bone maturation" EXACT layperson [] xref: SNOMEDCT_US:123982003 xref: UMLS:C0545053 is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0005617 name: Bilateral camptodactyly xref: UMLS:C4021830 is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0005619 name: Thoracolumbar kyphosis alt_id: HP:0003439 def: "Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Thoracolumbar gibbus" EXACT [] synonym: "Thoracolumbar gibbus deformity" EXACT [] xref: UMLS:C1855418 is_a: HP:0002942 ! Thoracic kyphosis is_a: HP:0100712 ! Abnormal lumbar spine morphology [Term] id: HP:0005620 name: Hypermobility of interphalangeal joints def: "The ability of the interphalangeal joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased mobility of hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025172 is_a: HP:0430046 ! Small joint hypermobilty [Term] id: HP:0005621 name: Trapezoidal vertebral body def: "An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the front or back than on the other side." [PMID:33247084] comment: See Figure 1d in PMID:33247084. synonym: "Trapezoidal shaped vertebral bodies" EXACT plural_form [] synonym: "Trapezoidal vertebral bodies" EXACT plural_form [] xref: UMLS:C4025171 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005622 name: Broad long bones def: "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad long bones" EXACT layperson [] synonym: "Wide long bones" EXACT layperson [] synonym: "Widened long bones" EXACT layperson [] xref: UMLS:C4021630 is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0005623 name: Absent ossification of calvaria def: "Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones." [https://orcid.org/0000-0002-0736-9199] comment: Absent ossification of the calvaria (vault of the skull). synonym: "Absent bone maturation of skullcap" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absent ossification of skull vault" EXACT [] synonym: "Acalvaria" EXACT [] xref: UMLS:C4021629 is_a: HP:0005474 ! Decreased calvarial ossification [Term] id: HP:0005625 name: Osteoporosis of vertebrae def: "Osteoporosis affecting predominantly the vertebrae." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025170 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0040161 ! Localized osteoporosis [Term] id: HP:0005626 name: Posterior fusion of lumbosacral vertebrae def: "Bony fusion of the posterior part of the L5 vertebral body with the sacrum." [PMID:5443339] xref: UMLS:C4025169 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0005627 name: Type D brachydactyly def: "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachydactyly type D" EXACT [] xref: UMLS:C0220664 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005632 name: Absent forearm synonym: "Absent forearm" EXACT layperson [] synonym: "Absent forearms" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1408532 is_a: HP:0002973 ! Abnormal forearm morphology [Term] id: HP:0005638 name: Decreased anterioposterior diameter of lumbar vertebral bodies xref: UMLS:C4025168 is_a: HP:0008473 ! Narrow anterio-posterior vertebral body diameter [Term] id: HP:0005639 name: Hyperextensible hand joints def: "The ability of the joints of the hand to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856877 is_a: HP:0430046 ! Small joint hypermobilty [Term] id: HP:0005640 name: Abnormal vertebral segmentation and fusion xref: UMLS:C4025167 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0005643 name: Short 3rd toe def: "Underdevelopment (hypoplasia) of the third toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachydactyly of third toes" EXACT [] synonym: "Short 3rd toe" EXACT layperson [] synonym: "Short third toe" EXACT layperson [] xref: UMLS:C4021628 is_a: HP:0001831 ! Short toe [Term] id: HP:0005645 name: Intervertebral disk calcification def: "The presence of abnormal calcium deposition of the intervertebral disk." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Intervertebral disc calcification" EXACT uk_spelling [] synonym: "Multiple intervertebral disc calcifications" EXACT uk_spelling [] synonym: "Multiple intervertebral disk calcifications" EXACT [] xref: SNOMEDCT_US:240211000 xref: UMLS:C0410607 is_a: HP:0005108 ! Abnormal intervertebral disk morphology is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0005648 name: Bilateral ulnar hypoplasia def: "Underdevelopment of the ulna on both sides." [https://orcid.org/0000-0002-0736-9199] comment: May be a symmetric finding. xref: UMLS:C4025166 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005650 name: 2-5 finger cutaneous syndactyly alt_id: HP:0010692 def: "A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Cutaneous syndactyly between fingers 2 and 5" EXACT [] synonym: "Webbed 2nd-5th fingers" EXACT [] xref: UMLS:C4025165 is_a: HP:0010554 ! Cutaneous finger syndactyly [Term] id: HP:0005652 name: Cortical sclerosis def: "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025164 is_a: HP:0003103 ! Abnormal cortical bone morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005653 name: Moderate generalized osteoporosis def: "Moderate osteoporosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Moderate generalised osteoporosis" EXACT uk_spelling [] xref: UMLS:C4025163 is_a: HP:0040160 ! Generalized osteoporosis [Term] id: HP:0005655 name: Multiple digital exostoses def: "Multiple exostoses originating in the fingers and toes." [https://orcid.org/0000-0002-0736-9199] comment: This feature is characteristic of metachondromatosis (MIM:156250). xref: UMLS:C4025162 is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005656 name: Positional foot deformity def: "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025161 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0005659 name: Thoracic kyphoscoliosis xref: UMLS:C4015465 is_a: HP:0002943 ! Thoracic scoliosis [Term] id: HP:0005661 name: Salmonella osteomyelitis def: "Osteomyelitis caused by infection with the bacteria, salmonella." [PMID:26668420] synonym: "Salmonella bone infection" EXACT layperson [] xref: SNOMEDCT_US:6803002 xref: UMLS:C0152491 is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005665 name: Massively thickened long bone cortices def: "Extreme thickening of the cortex of long bones." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025160 is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0005667 name: Os odontoideum def: "Separation of the odontoid process from the body of the axis." [https://orcid.org/0000-0002-0736-9199, PMID:21543665, PMID:22224150] comment: With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits. xref: SNOMEDCT_US:445242006 xref: UMLS:C2919848 is_a: HP:0003310 ! Abnormal odontoid process morphology [Term] id: HP:0005671 name: Bilateral intracerebral calcifications def: "Deposition of calcium salts on both sides of the cerebrum." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral intracranial calcifications" EXACT [] xref: UMLS:C4025159 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005676 name: Rudimentary postaxial polydactyly of hands xref: UMLS:C4025158 is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0005678 name: Anterior atlanto-occipital dislocation xref: UMLS:C4025157 is_a: HP:0003414 ! Atlantoaxial dislocation [Term] id: HP:0005679 name: Dupuytren contracture def: "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints." [https://orcid.org/0000-0002-0736-9199] comment: A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers. xref: SNOMEDCT_US:203045001 xref: SNOMEDCT_US:203047009 xref: SNOMEDCT_US:274142002 xref: SNOMEDCT_US:410813000 xref: UMLS:C0013312 is_a: HP:0009473 ! Joint contracture of the hand [Term] id: HP:0005680 name: Tongue-like lumbar vertebral deformities def: "A tongue-like protusion from the anterior aspect of lumbar vertebral bodies." [PMID:25349664] xref: UMLS:C4025156 is_a: HP:0008430 ! Anterior beaking of lumbar vertebrae [Term] id: HP:0005681 name: Juvenile rheumatoid arthritis synonym: "Juvenile idiopathic arthritis" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, https://orcid.org/0000-0001-5208-3432] synonym: "Juvenile RA" EXACT abbreviation [] synonym: "Rheumatoid arthritis, juvenile" EXACT [] xref: SNOMEDCT_US:410795001 xref: UMLS:C3714757 is_a: HP:0001370 ! Rheumatoid arthritis [Term] id: HP:0005682 name: Talocalcaneal synostosis synonym: "Fusion of foot joint" BROAD layperson [https://en.wikipedia.org/wiki/subtalar_joint, https://orcid.org/0000-0001-5208-3432] synonym: "Fusion of the subtalar joint" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025155 xref: UMLS:C4255214 is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0005684 name: Distal arthrogryposis def: "An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function." [https://orcid.org/0000-0002-0736-9199, PMID:8923935] xref: SNOMEDCT_US:24269006 xref: UMLS:C0265213 is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0005686 name: Patchy osteosclerosis def: "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy increase of bone mineral density" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855845 is_a: HP:0010658 ! Patchy changes of bone mineral density is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005687 name: Deformed humeral heads synonym: "Deformed head of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025154 is_a: HP:0003871 ! Deformed humerus [Term] id: HP:0005688 name: Dysplastic distal thumb phalanges with a central hole xref: UMLS:C4025153 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0005689 name: Dermatoglyphic ridges abnormal xref: UMLS:C4025152 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005692 name: obsolete Joint hyperflexibility is_obsolete: true replaced_by: HP:0001382 [Term] id: HP:0005694 name: Partial fusion of proximal row of carpal bones synonym: "Partial fusion of innermost row of wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3152021 is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0005696 name: Postaxial polydactyly type A def: "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:715704001 xref: UMLS:C3887487 is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0005700 name: Increased bone density with cystic changes xref: UMLS:C4025151 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005701 name: Multiple enchondromatosis xref: SNOMEDCT_US:268274005 xref: UMLS:C0014084 is_a: HP:0002763 ! Abnormal cartilage morphology is_a: HP:0030038 ! Enchondroma [Term] id: HP:0005707 name: Bilateral triphalangeal thumbs def: "A bilateral form of triphalangeal thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral digitalized thumb" EXACT [] xref: UMLS:C4021627 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005709 name: 2-3 toe cutaneous syndactyly synonym: "Complete cutaneous syndactyly of second and third toes" EXACT [] synonym: "Cutaneous 2,3 toe syndactyly" EXACT [] synonym: "Cutaneous syndactyly of second and third toes" EXACT [] synonym: "Webbed skin of 2nd-3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205145001 xref: UMLS:C0432040 is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005715 name: Flattened knee epiphyses synonym: "Flattened end part of knee bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025150 is_a: HP:0003071 ! Flattened epiphysis is_a: HP:0034669 ! Abnormal knee morphology [Term] id: HP:0005716 name: Lethal skeletal dysplasia alt_id: HP:0008898 synonym: "Lethal dwarfism identifiable at birth" EXACT layperson [] xref: UMLS:C4021626 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005720 name: Shortening of all metacarpals def: "Abnormal reduction in length of all metacarpal bones." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025149 is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0005722 name: Hyperextensible thumb def: "The ability of the thumb joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199] synonym: "Double jointed thumb" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025148 is_a: HP:0005639 ! Hyperextensible hand joints [Term] id: HP:0005723 name: Shoe-shaped sella turcica xref: UMLS:C4025147 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005725 name: Nonopposable triphalangeal thumb def: "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2931238 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005726 name: Thumbs hypoplastic with bulbous tips synonym: "Short thumbs with bulbous tips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025146 is_a: HP:0009778 ! Short thumb [Term] id: HP:0005731 name: Cortical irregularity def: "An abnormal irregularity of cortical bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025145 is_a: HP:0003103 ! Abnormal cortical bone morphology [Term] id: HP:0005733 name: Spinal stenosis with reduced interpedicular distance alt_id: HP:0004597 def: "An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging)." [https://orcid.org/0000-0002-0736-9199] comment: The pedicles are two short, thick processes that connect the body of the vertebrae to the arch. synonym: "Spinal stenosis due to short pedicles" EXACT [] xref: UMLS:C4021625 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0005736 name: Short tibia alt_id: HP:0002993 alt_id: HP:0006436 alt_id: HP:0006445 def: "Underdevelopment (reduced size) of the tibia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of the tibia" EXACT [] synonym: "Hypoplastic tibia" EXACT [] synonym: "Short shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short skankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short tibiae" EXACT [] synonym: "Shortening of the shankbone" EXACT [] synonym: "Shortening of the shinbone" EXACT [] synonym: "Shortening of the tibia" EXACT [] xref: UMLS:C1850259 xref: UMLS:C1855277 is_a: HP:0003026 ! Short long bone is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0005739 name: Posterior subluxation of radial head def: "Partial dislocation of the head of the radius in the posterior direction." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3149878 is_a: HP:0003048 ! Radial head subluxation [Term] id: HP:0005743 name: Avascular necrosis of the capital femoral epiphysis alt_id: HP:0003280 alt_id: HP:0006448 alt_id: HP:0010887 def: "Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature." [https://orcid.org/0000-0002-0736-9199, PMID:29481348, PMID:30020602] comment: In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh. synonym: "Coxa plana" RELATED [] synonym: "Legg-Calve-Perthes syndrome" RELATED [] synonym: "Legg-Perthes disease" RELATED [] synonym: "Morbus Legg-Calve-Perthes" RELATED [] synonym: "Osteochondrosis of the femoral head" EXACT [] synonym: "Osteonecrosis of the femoral head" EXACT [] synonym: "Perthes-like femoral head changes" EXACT [] xref: ICD-10:M91.1 xref: SNOMEDCT_US:111255008 xref: SNOMEDCT_US:240241003 xref: UMLS:C0023234 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0100323 ! Juvenile aseptic necrosis [Term] id: HP:0005744 name: obsolete Generalized osteoporosis with pathologic fractures is_obsolete: true replaced_by: HP:0040160 [Term] id: HP:0005745 name: Congenital foot contractures xref: UMLS:C4025144 is_a: HP:0002803 ! Congenital contracture is_a: HP:0005750 ! Lower-limb joint contracture [Term] id: HP:0005746 name: Osteosclerosis of the base of the skull def: "An increase in bone density affecting the basicranium (base of the skull)." [https://orcid.org/0000-0002-0736-9199] comment: Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull. synonym: "Osteosclerosis of the skull base" EXACT [] xref: UMLS:C4021624 is_a: HP:0005464 ! Craniofacial osteosclerosis [Term] id: HP:0005747 name: Easily subluxated first metacarpophalangeal joints xref: UMLS:C4025143 is_a: HP:0004294 ! Subluxation of metacarpal phalangeal joints [Term] id: HP:0005750 name: Lower-limb joint contracture def: "A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin." [] synonym: "Contractures of the joints of the lower limbs" EXACT [] synonym: "Contractures, lower limbs" EXACT [] xref: UMLS:C1859523 is_a: HP:0003121 ! Limb joint contracture [Term] id: HP:0005752 name: Flattened moderately deformed vertebrae xref: UMLS:C4025142 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005756 name: Neonatal epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period." [https://orcid.org/0000-0002-0736-9199] synonym: "Epiphyseal stippling in neonates" EXACT [] synonym: "Speckled calcifications in bone end parts in neonates" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021623 is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0005758 name: Basilar impression def: "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum." [https://orcid.org/0000-0002-0736-9199, PMID:10084535] xref: SNOMEDCT_US:86587003 xref: UMLS:C0032209 is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology [Term] id: HP:0005759 name: Small flat posterior fossa def: "An abnormally small and flat configuration of the posterior cranial fossa." [https://orcid.org/0000-0002-0736-9199] synonym: "Small and flat posterior fossa of skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small and flat posterior skull bones" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025141 is_a: HP:0040010 ! Small posterior fossa is_a: HP:0040011 ! Flat posterior fossa [Term] id: HP:0005764 name: Polyarticular arthritis xref: SNOMEDCT_US:416956002 xref: SNOMEDCT_US:417373000 xref: UMLS:C0162323 is_a: HP:0005195 ! Polyarticular arthropathy [Term] id: HP:0005765 name: Sacral meningocele xref: SNOMEDCT_US:95478002 xref: UMLS:C0521556 is_a: HP:0005107 ! Abnormal sacrum morphology [Term] id: HP:0005766 name: Disproportionate shortening of the tibia synonym: "Disproportionate shortening of the shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Disproportionate shortening of the shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Marked shortening of tibia" EXACT [] xref: UMLS:C3806516 is_a: HP:0005736 ! Short tibia [Term] id: HP:0005767 name: 1-2 toe complete cutaneous syndactyly xref: UMLS:C4025140 is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005768 name: 2-4 toe cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4." [https://orcid.org/0000-0002-0736-9199] synonym: "Soft tissue syndactyly of toes 2, 3, and 4" EXACT [] synonym: "Webbed 2nd, 3rd and 4th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Webbed second, third and fourth toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021622 is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005769 name: Fifth finger distal phalanx clinodactyly def: "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger)." [https://orcid.org/0000-0002-0736-9199] synonym: "Curvature of outermost bone of little finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of outermost bone of pinkie finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of outermost bone of pinky finger" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025139 xref: UMLS:C4280477 is_a: HP:0004209 ! Clinodactyly of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger [Term] id: HP:0005772 name: Aplasia/Hypoplasia of the tibia def: "Absence or underdevelopment of the tibia." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic tibia" EXACT [] synonym: "Absent/small shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic/hypoplastic tibia" EXACT [] xref: UMLS:C1969181 is_a: HP:0002992 ! Abnormal tibia morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs [Term] id: HP:0005773 name: Short forearm def: "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of both radius and ulna" EXACT [] synonym: "Short forearm" EXACT layperson [] xref: UMLS:C1855299 is_a: HP:0009821 ! Forearm undergrowth [Term] id: HP:0005775 name: Multiple skeletal anomalies xref: UMLS:C4025138 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005776 name: Carpal bone malsegmentation xref: UMLS:C4025137 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0005780 name: Absent fourth finger distal interphalangeal crease def: "Absence of the distal interphalangeal flexion creases of the fourth finger." [https://orcid.org/0000-0002-0736-9199] synonym: "No fourth finger distal interphalangeal crease" EXACT [] xref: UMLS:C4021621 is_a: HP:0001032 ! Absent distal interphalangeal creases [Term] id: HP:0005781 name: Contractures of the large joints xref: UMLS:C1859698 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0005787 name: Lumbar platyspondyly alt_id: HP:0004588 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the lumbar spine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025136 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005788 name: obsolete Abnormal cervical myelogram is_obsolete: true replaced_by: HP:0002318 [Term] id: HP:0005789 name: Generalized osteosclerosis alt_id: HP:0005805 def: "An abnormal increase of bone mineral density with generalized involvement of the skeleton." [https://orcid.org/0000-0002-0736-9199] synonym: "Diffuse, symmetrical osteosclerosis" EXACT [] synonym: "Generalised osteosclerosis" EXACT uk_spelling [] synonym: "Increased bone density in skeletal bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Osteosclerosis, diffuse symmetrical" EXACT [] xref: UMLS:C1843331 xref: UMLS:C4280476 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005790 name: Short mandibular condyles synonym: "Bilateral hypoplasia of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral hypoplasia of mandibular condylar head" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral hypoplasia of mandibular condylar neck" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Decreased height of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Short condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Short condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025134 xref: UMLS:C4280474 xref: UMLS:C4280475 is_a: HP:0003778 ! Short mandibular rami is_a: HP:3000077 ! Abnormal mandible condylar process morphology [Term] id: HP:0005791 name: Cortical thickening of long bone diaphyses def: "Abnormal thickening of the cortex of the diaphyseal region of long bones." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025133 is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0005792 name: Short humerus alt_id: HP:0002989 alt_id: HP:0003014 alt_id: HP:0003064 alt_id: HP:0006419 alt_id: HP:0006464 alt_id: HP:0006468 def: "Underdevelopment of the humerus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Humeral hypoplasia" EXACT [] synonym: "Humeral shortening" EXACT [] synonym: "Hypoplastic humerus" EXACT [] synonym: "Short humeri" EXACT [] synonym: "Short humerus" EXACT layperson [] synonym: "Short long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Short upper arms" EXACT layperson [] xref: UMLS:C1832117 is_a: HP:0003026 ! Short long bone is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0005793 name: Shortening of all distal phalanges of the toes def: "Abnormally short distal phalanx of toe of all toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Shortening of all outermost bone of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025132 is_a: HP:0001857 ! Short distal phalanx of toe [Term] id: HP:0005794 name: obsolete Arterial disease of legs is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005798 name: Posterior radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1867398 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005802 name: Coalescence of tarsal bones xref: UMLS:C4025130 is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0005807 name: Absent distal phalanges def: "Aplasia (absence) of the distal phalanges." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent outermost digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861339 is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand [Term] id: HP:0005815 name: Supernumerary ribs alt_id: HP:0000901 def: "The presence of more than 12 rib pairs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Extra ribs" EXACT layperson [] xref: SNOMEDCT_US:205460009 xref: UMLS:C0345397 is_a: HP:0000772 ! Abnormal rib morphology is_a: HP:0009144 ! Supernumerary bones of the axial skeleton [Term] id: HP:0005817 name: Postaxial polysyndactyly of foot def: "Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4021824 is_a: HP:0001830 ! Postaxial foot polydactyly [Term] id: HP:0005819 name: Short middle phalanx of finger alt_id: HP:0001208 alt_id: HP:0006068 alt_id: HP:0006081 alt_id: HP:0010240 def: "Short (hypoplastic) middle phalanx of finger, affecting one or more fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachymesophalangy" EXACT [] synonym: "Disproportionately short middle phalanges" EXACT [] synonym: "Hypoplasia of the middle phalanges of the hand" EXACT [] synonym: "Hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic middle phalanx" EXACT [] synonym: "Midphalangeal hypoplasia" EXACT [] synonym: "Short middle bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short middle phalanges" EXACT [] synonym: "Shortened middle finger bones" EXACT [] xref: UMLS:C1846950 is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand [Term] id: HP:0005820 name: Superior rib anomalies xref: UMLS:C4025129 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0005824 name: Clinodactyly of the 2nd toe def: "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Clinodactyly of second toes" EXACT [] synonym: "Curvature of 2nd toe" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021620 xref: UMLS:C4280473 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010326 ! Deviation of the 2nd toe [Term] id: HP:0005825 name: Mixed sclerosis of humeral metaphyses xref: UMLS:C4025128 is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0005828 name: Transient pulmonary infiltrates xref: UMLS:C3805920 is_a: HP:0002113 ! Pulmonary infiltrates [Term] id: HP:0005829 name: Maldevelopment of radioulnar joint xref: UMLS:C3149879 is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0005830 name: Flexion contracture of toe alt_id: HP:0001860 alt_id: HP:0008128 alt_id: HP:0008367 alt_id: HP:0200027 def: "One or more bent (flexed) toe joints that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] synonym: "Contractures involving the toes" EXACT [] synonym: "Contractures of the toes" EXACT [] synonym: "Toe contractures" EXACT [] xref: UMLS:C1406835 is_a: HP:0008366 ! Foot joint contracture is_a: HP:0030044 ! Flexion contracture of digit is_a: HP:0034675 ! Toe joint contracture [Term] id: HP:0005831 name: Type B brachydactyly xref: UMLS:C1862112 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005832 name: Dysharmonic delayed bone age alt_id: HP:0005840 def: "A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859444 is_a: HP:0002750 ! Delayed skeletal maturation is_a: HP:0200000 ! Dysharmonic skeletal maturation [Term] id: HP:0005833 name: obsolete Joint swelling onset late infancy is_obsolete: true consider: HP:0001386 [Term] id: HP:0005834 name: obsolete Thumbs hypo/aplastic is_obsolete: true replaced_by: HP:0009658 [Term] id: HP:0005837 name: obsolete Joint dislocations in young adult is_obsolete: true replaced_by: HP:0001373 [Term] id: HP:0005841 name: Calcific stippling of infantile cartilaginous skeleton xref: UMLS:C1859135 is_a: HP:0003336 ! Abnormal enchondral ossification [Term] id: HP:0005844 name: Rounded middle phalanx of finger def: "An abnormally round shape of the middle phalanx of the finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Rounded middle bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025126 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand [Term] id: HP:0005848 name: obsolete Bifid thumb distal phalanx is_obsolete: true replaced_by: HP:0009611 [Term] id: HP:0005849 name: Diffuse cerebral calcification def: "Generalized deposition of calcium salts within the cerebrum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025125 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005850 name: Congenital talipes calcaneovalgus xref: SNOMEDCT_US:205083002 xref: SNOMEDCT_US:31668003 xref: UMLS:C0152237 is_a: HP:0001884 ! Talipes calcaneovalgus [Term] id: HP:0005852 name: Limited elbow extension and supination xref: UMLS:C4025124 is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005853 name: Congenital foot contraction deformities xref: UMLS:C4025123 is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0005855 name: Multiple prenatal fractures alt_id: HP:0002811 alt_id: HP:0005761 def: "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital bone fractures" EXACT [] synonym: "Multiple fractures present at birth" EXACT layperson [] synonym: "Multiple fractures, present at birth" EXACT layperson [] synonym: "Numerous multiple fractures present at birth" EXACT layperson [] synonym: "Numerous multiple fractures that are present at birth" EXACT layperson [] xref: UMLS:C1853171 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0005856 name: Ulnar radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction." [https://orcid.org/0000-0002-0736-9199] synonym: "Ulnar dislocation of radial heads" EXACT [] xref: UMLS:C4021619 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005857 name: Cervical spina bifida xref: SNOMEDCT_US:32232003 xref: UMLS:C0266501 is_a: HP:0002414 ! Spina bifida [Term] id: HP:0005863 name: Type E brachydactyly alt_id: HP:0006115 def: "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1862102 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005864 name: Pseudoarthrosis def: "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\")." [https://orcid.org/0000-0002-0736-9199] synonym: "Pseudoarthroses" EXACT [] xref: SNOMEDCT_US:31511007 xref: SNOMEDCT_US:410818009 xref: UMLS:C0033785 is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0005866 name: Opposable triphalangeal thumb def: "A form of triphalangeal thumb that can be placed opposite the fingers of the same hand." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025122 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005867 name: 4-5 metacarpal synostosis synonym: "Fused 4th-5th long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused 4th-5th metacarpals" EXACT [] synonym: "Fused fourth and fifth metacarpals" EXACT [] synonym: "Ring finger and little finger metacarpal synostosis" EXACT [] synonym: "Synostosis of the fourth and fifth metacarpal bones" EXACT [] xref: UMLS:C1859768 is_a: HP:0009707 ! Synostosis involving the 4th metacarpal is_a: HP:0009708 ! Synostosis involving the 5th metacarpal [Term] id: HP:0005868 name: Metaphyseal enchondromatosis def: "An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins." [https://orcid.org/0000-0002-0736-9199, PMID:20661403] xref: UMLS:C4025121 is_a: HP:0000944 ! Abnormal metaphysis morphology [Term] id: HP:0005871 name: Metaphyseal chondrodysplasia alt_id: HP:0006377 def: "An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae." [https://orcid.org/0000-0002-0736-9199, PMID:335375] comment: The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred. xref: SNOMEDCT_US:28681006 xref: UMLS:C0265290 is_a: HP:0100255 ! Metaphyseal dysplasia [Term] id: HP:0005872 name: Brachytelomesophalangy alt_id: HP:0005777 alt_id: HP:0006093 def: "Disproportionately short middle and distal phalanges compared to the hand/foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive brachydactyly of middle and distal phalanges" EXACT [] synonym: "Short middle and distal phalanges of digits ii through v" EXACT [] xref: UMLS:C1847408 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005873 name: Polysyndactyly of hallux def: "Combined syndactyly and polydactyly of the great toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Polysyndactyly of big toe" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Polysyndactyly of great toe" EXACT [] xref: UMLS:C4021618 is_a: HP:0001841 ! Preaxial foot polydactyly [Term] id: HP:0005875 name: Increased dermatoglyphic whorls xref: UMLS:C4025120 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005876 name: Progressive flexion contractures def: "Progressively worsening joint contractures." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint contractures, progressive" EXACT [] xref: UMLS:C3279322 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0005877 name: Multiple small vertebral fractures xref: UMLS:C4025119 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0005878 name: Enlarged sagittal diameter of the cervical canal xref: UMLS:C4025118 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0005879 name: Congenital finger flexion contractures def: "Multiple bent (flexed) finger joints that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital finger contractures" EXACT [] xref: UMLS:C1393871 is_a: HP:0002803 ! Congenital contracture is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0005880 name: Metacarpophalangeal synostosis alt_id: HP:0100325 def: "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused long bone of hand with innermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025117 is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0011911 ! Abnormal metacarpophalangeal joint morphology [Term] id: HP:0005881 name: Spinal instability xref: SNOMEDCT_US:240220009 xref: UMLS:C0410648 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0005882 name: Dermatoglyphic variants xref: UMLS:C4025116 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005885 name: Absent ossification of cervical vertebral bodies def: "A lack of bone mineralization of one or more body of cervical vertebra." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025115 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0005886 name: Aphalangy of the hands def: "Absence of a digit or of one or more phalanges of a finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025114 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand [Term] id: HP:0005890 name: Hyperostosis cranialis interna def: "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlargement of the inner surface of the skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive growth of inner surface of the skull bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of the internal surface of the cranial bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperostosis of the internal surface of the cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of the internal surface of the cranial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased ossification of the internal surface of the cranial bones" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of the inner surface of the skull bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of the inside of the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick inner surface of the skull bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick internal surface of the cranial bones" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1840404 xref: UMLS:C4280468 xref: UMLS:C4280469 xref: UMLS:C4280470 xref: UMLS:C4280471 xref: UMLS:C4280472 is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0005891 name: Progressive forearm bowing def: "Progressive bending or abnormal curvature of the forearm skeleton." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive forearm curvature" EXACT [] xref: UMLS:C3152020 is_a: HP:0003956 ! Bowed forearm bones is_a: HP:0006383 ! Progressive bowing of long bones [Term] id: HP:0005892 name: Proximal tibial and fibular fusion def: "A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula." [PMID:1872166] synonym: "Fusion of innermost shinbone and calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Proximal tibiofibular synostosis" EXACT [] xref: UMLS:C4025113 is_a: HP:0005928 ! Synostosis involving the fibula is_a: HP:0005929 ! Synostosis involving the tibia [Term] id: HP:0005894 name: Double first metacarpals def: "Duplication of the metacarpal I bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Double 1st long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025112 is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0005895 name: Radial deviation of thumb terminal phalanx xref: UMLS:C4025111 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0005897 name: Severe generalized osteoporosis alt_id: HP:0005838 def: "Severe degree of osteoporosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Severe generalised osteoporosis" EXACT uk_spelling [] synonym: "Severe, generalised osteoporosis" EXACT uk_spelling [] synonym: "Severe, generalized osteoporosis" EXACT [] xref: UMLS:C1859443 is_a: HP:0040160 ! Generalized osteoporosis [Term] id: HP:0005899 name: obsolete Metaphyseal dysostosis is_obsolete: true replaced_by: HP:0100255 [Term] id: HP:0005900 name: Fifth metacarpal with ulnar notch def: "Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger)." [https://orcid.org/0000-0002-0736-9199] synonym: "Fifth metacarpal notched on ulnar side" EXACT [] xref: UMLS:C3276324 is_a: HP:0010013 ! Abnormal 5th metacarpal morphology [Term] id: HP:0005901 name: obsolete Chronic recurrent multifocal osteomyelitis is_obsolete: true replaced_by: HP:0002754 [Term] id: HP:0005905 name: Abnormal cervical curvature def: "The presence of an abnormal curvature of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal neck curve" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C3151523 is_a: HP:0010674 ! Abnormal curvature of the vertebral column is_a: HP:0046508 ! Abnormal cervical spine morphology [Term] id: HP:0005906 name: Delayed pneumatization of the mastoid process def: "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Mastoid processes poorly pneumatized" EXACT [] xref: UMLS:C4021617 is_a: HP:0000264 ! Abnormal mastoid morphology [Term] id: HP:0005910 name: Rhomboid or triangular shaped 5th finger middle phalanx def: "Rhomboid or triangular shaped 5th (little) finger middle phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Rhomboid or triangular shaped fifth finger middle phalanx" EXACT [] xref: UMLS:C4021616 is_a: HP:0009182 ! Triangular shaped middle phalanx of the 5th finger [Term] id: HP:0005912 name: Biliary atresia def: "Atresia of the biliary tree." [https://orcid.org/0000-0002-0736-9199] synonym: "Atresia of bile ducts" EXACT [] synonym: "Biliary duct atresia" EXACT [] xref: SNOMEDCT_US:77480004 xref: SNOMEDCT_US:82821008 xref: UMLS:C0005411 is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:07:00Z [Term] id: HP:0005913 name: Abnormal metacarpal epiphysis morphology synonym: "Abnormality of end part of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of metacarpal epiphyses" EXACT [] xref: UMLS:C4025110 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0005924 ! Abnormal hand epiphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:13:00Z [Term] id: HP:0005914 name: Aplasia/Hypoplasia involving the metacarpal bones alt_id: HP:0006007 def: "Aplasia or Hypoplasia affecting the metacarpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent or hypoplastic metacarpals" EXACT [] synonym: "Absent/small long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic/hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic/absent metacarpal bones" EXACT [] synonym: "Hypoplastic/absent metacarpals" EXACT [] synonym: "Metacarpal aplasia/hypoplasia" EXACT [] xref: UMLS:C1836192 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:14:00Z [Term] id: HP:0005916 name: Abnormal metacarpal morphology alt_id: HP:0001163 alt_id: HP:0010556 def: "Any abnormal shape or structure of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal shape of metacarpal bones" EXACT [] xref: UMLS:C4021615 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0040070 ! Abnormal upper limb bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:17:00Z [Term] id: HP:0005917 name: Supernumerary metacarpal bones def: "The presence of more than the normal number of metacarpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:91846008 xref: UMLS:C0545617 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:18:00Z [Term] id: HP:0005918 name: Abnormal finger phalanx morphology alt_id: HP:0005786 alt_id: HP:0006259 def: "Abnormalities affecting the phalanx of finger." [https://orcid.org/0000-0002-0736-9199] comment: This category is a supercategory for abnormalties affect phalanges of the hand. synonym: "Abnormal form of phalanges of the hand" EXACT [] synonym: "Abnormality of phalanx of finger" EXACT [] synonym: "Abnormality of the finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the phalanges" EXACT [] synonym: "Abnormality of the phalanges of the hand" EXACT [] xref: UMLS:C4021614 is_a: HP:0001167 ! Abnormal finger morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:19:00Z [Term] id: HP:0005920 name: Abnormal epiphysis morphology of the phalanges of the hand alt_id: HP:0009151 def: "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4021613 is_a: HP:0005918 ! Abnormal finger phalanx morphology is_a: HP:0005924 ! Abnormal hand epiphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:21:00Z [Term] id: HP:0005921 name: obsolete Abnormal ossification of hand bones is_obsolete: true replaced_by: HP:0010660 [Term] id: HP:0005922 name: Abnormal hand morphology alt_id: HP:0003098 def: "Any structural anomaly of the hand." [https://orcid.org/0000-0002-0736-9199] comment: This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. synonym: "Abnormal shape of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025109 is_a: HP:0001155 ! Abnormality of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:25:00Z [Term] id: HP:0005923 name: Abnormal hand metaphysis morphology synonym: "Abnormalities of the metaphyses of the hand" EXACT [] synonym: "Abnormality of the wide portion of the hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025108 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0009809 ! Abnormal upper limb metaphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:27:00Z [Term] id: HP:0005924 name: Abnormal hand epiphysis morphology def: "Any abnormality of the epiphyses of the phalanges or metacarpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of the hand bones" EXACT [] synonym: "Abnormality of the epiphyses of the fingers" EXACT [] synonym: "Abnormality of the epiphyses of the hand" EXACT [] synonym: "Abnormality of the epiphyses of the phalanges of the hand" EXACT [] xref: UMLS:C4025107 is_a: HP:0003839 ! Abnormal upper limb epiphysis morphology is_a: HP:0005922 ! Abnormal hand morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005925 name: Abnormal hand diaphysis morphology synonym: "Abnormalities of shaft of long bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormalities of the diaphyses of the hand" EXACT [] xref: UMLS:C4025106 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0009808 ! Anomaly of the upper limb diaphyses property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005926 name: Abnormal hand cortical bone morphology def: "An anomaly of the outer shell (cortex) of a hand bone." [] synonym: "Abnormality of hand cortical bone" EXACT [] synonym: "Abnormality of the cortex of hand bones" EXACT [] xref: UMLS:C4025105 is_a: HP:0003103 ! Abnormal cortical bone morphology is_a: HP:0005922 ! Abnormal hand morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005927 name: Aplasia/hypoplasia involving bones of the hand def: "Absence (due to failure to form) or underdevelopment of the bones of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplasia/absence of hand bones" EXACT [] xref: UMLS:C4021612 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005928 name: Synostosis involving the fibula synonym: "Bone fusion involving the calf bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025104 is_a: HP:0002991 ! Abnormal fibula morphology is_a: HP:0009138 ! Synostosis involving bones of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005929 name: Synostosis involving the tibia synonym: "Bone fusion involving the shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025103 is_a: HP:0002992 ! Abnormal tibia morphology is_a: HP:0009138 ! Synostosis involving bones of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005930 name: Abnormal epiphysis morphology alt_id: HP:0000936 def: "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of epiphysis morphology" EXACT [] synonym: "Abnormality of the epiphyses" EXACT [] synonym: "Anomaly of the epiphyses" EXACT [] synonym: "Epiphyseal abnormality" EXACT [] xref: UMLS:C4021611 is_a: HP:0011314 ! Abnormal long bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T03:00:00Z [Term] id: HP:0005932 name: Abnormal renal corticomedullary differentiation def: "An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla." [https://orcid.org/0000-0002-0736-9199, PMID:22528889] comment: On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. Progressive corticomedullary differentiation (CMD) can be visualized as an echogenic cortex and a hypoechoic medulla. This CMD should be visible during the midtrimester sonographic evaluation. xref: UMLS:C4025102 is_a: HP:0011035 ! Abnormal renal cortex morphology is_a: HP:0100957 ! Abnormal renal medulla morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-27T03:21:00Z [Term] id: HP:0005934 name: Imperfect vocal cord adduction xref: UMLS:C4025101 is_a: HP:0031801 ! Vocal cord dysfunction [Term] id: HP:0005938 name: Abnormal respiratory motile cilium morphology def: "Abnormal arrangement of the structures of the motile cilium." [https://orcid.org/0000-0002-0736-9199, MP:0011050] xref: UMLS:C4025100 is_a: HP:0012253 ! Abnormal respiratory epithelium morphology [Term] id: HP:0005939 name: Multiple bilateral pneumothoraces xref: UMLS:C4025099 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0005941 name: Intermittent hyperpnea at rest xref: UMLS:C4025098 is_a: HP:0004879 ! Intermittent hyperventilation [Term] id: HP:0005942 name: Desquamative interstitial pneumonitis def: "Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present." [https://orcid.org/0000-0002-7371-8158, PMID:14338290, PMID:16728712, PMID:16738196, PMID:23728865, PMID:25657025] comment: The name originated from the belief that the dominant histologic feature was desquamation of epithelial cells. However, this is now recognized to be intra-alveolar macrophage accumulation rather than desquamation of epithelial cells as originally thought by Liebow and Carrington. In adults the condition is almost invariable associated with cigarette smoke. However, rare cases occur in nonsmokers, some of whom have had exposure to environmental inhalation exposures including passive exposure to cigarette smoke. In children genetically caused surfactant dysfunction syndromes may have the histological pattern of DIP. synonym: "Filling of the alveoli with alveolar macrophages" EXACT [] synonym: "Filling of the alveoli with desquamated epithelial cells" RELATED [] synonym: "Intra-alveolar accumulation of macrophages" RELATED [] xref: SNOMEDCT_US:8549006 xref: UMLS:C0238378 is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology [Term] id: HP:0005943 name: Respiratory arrest synonym: "Breathing cessation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:87317003 xref: UMLS:C0162297 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0005944 name: Bilateral lung agenesis alt_id: HP:0006550 def: "Bilateral lack of development of the lungs." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent lungs" EXACT layperson [] synonym: "Bilateral pulmonary agenesis" EXACT [] xref: Fyler:4206 xref: UMLS:C4021610 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0005945 name: Laryngeal obstruction def: "Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:61169001 xref: UMLS:C0264306 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0005946 name: Ventilator dependence with inability to wean xref: UMLS:C4025097 is_a: HP:0004887 ! Respiratory failure requiring assisted ventilation [Term] id: HP:0005947 name: Decreased sensitivity to hypoxemia def: "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration." [https://orcid.org/0000-0002-0736-9199] comment: Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood). synonym: "Decreased sensitivity to hypoxaemia" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Decreased sensitivity to hypoxemia" EXACT layperson [] xref: UMLS:C3806286 is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0005948 name: Multiple pulmonary cysts def: "The presence of multiple lung cysts." [PMID:20028879] comment: Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH. synonym: "Cystic lung disease" EXACT [] synonym: "Multiple lung cysts" EXACT [] xref: UMLS:C1384901 is_a: HP:0032445 ! Pulmonary cyst [Term] id: HP:0005949 name: Apneic episodes in infancy def: "Recurrent episodes of apnea occurring during infancy." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3807980 is_a: HP:0002104 ! Apnea [Term] id: HP:0005950 name: Laryngeal web def: "A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [https://orcid.org/0000-0002-0736-9199] comment: Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry). synonym: "Glottic web" NARROW [] synonym: "Laryngeal webs" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Partial laryngeal atresia" EXACT [] xref: SNOMEDCT_US:297159008 xref: UMLS:C0281890 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0005951 name: Progressive inspiratory stridor xref: UMLS:C4025096 is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0005952 name: obsolete Decreased pulmonary function is_obsolete: true replaced_by: HP:0002795 [Term] id: HP:0005954 name: Pulmonary capillary hemangiomatosis synonym: "Pulmonary hemangiomas" EXACT [] xref: SNOMEDCT_US:233949008 xref: UMLS:C0340548 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature is_a: HP:0005306 ! Capillary hemangioma is_a: HP:0007461 ! Hemangiomatosis [Term] id: HP:0005956 name: Anteroposteriorly shortened larynx def: "Abnormal shortening of the larynx in the anteroposterior (front to back) axis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3805994 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0005957 name: Breathing dysregulation xref: UMLS:C3808046 is_a: HP:0002795 ! Abnormal respiratory system physiology [Term] id: HP:0005959 name: Impaired gluconeogenesis def: "An impairment of gluconeogenesis." [HPO_CONTRIBUTOR:gcarletti] synonym: "Gluconeogenesis impaired" EXACT [] xref: UMLS:C3279336 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0005961 name: Hypoargininemia def: "A decreased concentration of arginine in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Arginine deficiency" RELATED [] synonym: "Low blood arginine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859735 xref: UMLS:C4025095 is_a: HP:0010909 ! Abnormal circulating arginine concentration [Term] id: HP:0005964 name: Intermittent hypothermia alt_id: HP:0005970 def: "Episodes of reduced body temperature." [https://orcid.org/0000-0002-0736-9199] synonym: "Intermittent abnormally low body temperature" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Intermittent hypothermia" EXACT layperson [] xref: UMLS:C1837639 is_a: HP:0002045 ! Hypothermia [Term] id: HP:0005967 name: Mixed respiratory and metabolic acidosis xref: UMLS:C1840372 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005968 name: Temperature instability def: "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature." [https://orcid.org/0000-0002-0736-9199] synonym: "Body temperature instability" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Temperature instability" EXACT layperson [] xref: UMLS:C1820737 xref: UMLS:C3279038 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0005972 name: Respiratory acidosis def: "Acidosis because of respiratory retention of carbon dioxide." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:12326000 xref: UMLS:C0001127 is_a: HP:0001941 ! Acidosis [Term] id: HP:0005973 name: Fructose intolerance def: "Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance." [PMID:24357350] synonym: "Fructose malabsorption" EXACT [] xref: SNOMEDCT_US:20052008 xref: UMLS:C0016751 is_a: HP:0011033 ! Impairment of fructose metabolism [Term] id: HP:0005974 name: Episodic ketoacidosis alt_id: HP:0005981 alt_id: HP:0005983 def: "Intermittent episodes of ketoacidosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Ketoacidosis, episodic" EXACT [] xref: UMLS:C1859860 is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005976 name: Hyperkalemic metabolic acidosis xref: UMLS:C1865880 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005977 name: Hypochloremic metabolic alkalosis xref: UMLS:C0740895 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0005978 name: Type II diabetes mellitus alt_id: HP:0005965 alt_id: HP:0100652 def: "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [https://orcid.org/0000-0002-0736-9199] comment: Persons with type II diabetes mellitus rarely develop ketoacidosis. synonym: "Diabetes mellitus type 2" RELATED [] synonym: "Diabetes mellitus Type II" EXACT [] synonym: "Diabetes mellitus, noninsulin-dependent" EXACT [] synonym: "NIDDM" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "NIDDM diabetes mellitus" EXACT [] synonym: "Non-insulin dependent diabetes" EXACT [] synonym: "Noninsulin dependent diabetes mellitus" EXACT [] synonym: "Noninsulin-dependent diabetes" EXACT layperson [] synonym: "Noninsulin-dependent diabetes mellitus" RELATED [] synonym: "Type 2 diabetes" EXACT layperson [] synonym: "Type II diabetes" EXACT layperson [] xref: SNOMEDCT_US:44054006 xref: UMLS:C0011860 is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0005979 name: Metabolic ketoacidosis alt_id: HP:0005971 def: "A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake." [] synonym: "Starvation ketoacidosis" EXACT [] xref: UMLS:C1854704 is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005982 name: Reduced phenylalanine hydroxylase level def: "A reduction in phenylalanine 4-monooxygenase level." [https://orcid.org/0000-0002-0736-9199] synonym: "Phenylalanine hydroxylase deficiency" RELATED [] xref: SNOMEDCT_US:7573000 xref: UMLS:C0751434 xref: UMLS:C4025094 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity [Term] id: HP:0005984 name: obsolete Elevated maternal serum alpha-fetoprotein is_obsolete: true replaced_by: HP:0011432 [Term] id: HP:0005986 name: Limitation of neck motion synonym: "Limitation of neck motion" EXACT layperson [] synonym: "Limited neck mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Restricted neck movement" EXACT [] xref: SNOMEDCT_US:161882006 xref: SNOMEDCT_US:405947006 xref: UMLS:C0151315 xref: UMLS:C1320474 xref: UMLS:C1847392 is_a: HP:0025669 ! Abnormal neck physiology [Term] id: HP:0005987 name: Multinodular goiter def: "Enlargement of the thyroid gland related to multiple nodules in the thyroid gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Multinodular goitre" EXACT uk_spelling [] xref: SNOMEDCT_US:237570007 xref: UMLS:C0342208 is_a: HP:0005994 ! Nodular goiter [Term] id: HP:0005988 name: Congenital muscular torticollis def: "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending." [https://orcid.org/0000-0002-0736-9199] comment: Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis. synonym: "Torticollis, congenital" EXACT [] xref: SNOMEDCT_US:268240006 xref: UMLS:C0079352 is_a: HP:0011006 ! Abnormal morphology of the musculature of the neck [Term] id: HP:0005989 name: Redundant neck skin alt_id: HP:0005993 alt_id: HP:0005996 def: "Excess skin around the neck, often lying in horizontal folds." [PMID:19125436] comment: With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used. synonym: "Excess neck skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excess skin over the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Excessive nuchal skin" EXACT [] synonym: "Redundant neck skin" EXACT layperson [] synonym: "Redundant nuchal skin" EXACT [] synonym: "Redundant skin folds of neck" EXACT layperson [] synonym: "Redundant skin over the neck" EXACT layperson [] xref: UMLS:C1840319 is_a: HP:0001582 ! Redundant skin is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0005990 name: Thyroid hypoplasia def: "Developmental hypoplasia of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic thyroid" EXACT [] synonym: "Small thyroid gland" EXACT layperson [] xref: SNOMEDCT_US:367524008 xref: UMLS:C0151516 is_a: HP:0033079 ! Aplasia/Hypoplasia of the thyroid gland [Term] id: HP:0005991 name: Limited neck flexion def: "Reduced ability to lower the chin towards the chest by bending the neck." [] synonym: "Limited cervical flexion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Limited neck flexibility" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1864449 is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005994 name: Nodular goiter def: "Enlargement of the thyroid gland related to one or more nodules in the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Nodular goitre" EXACT uk_spelling [] xref: SNOMEDCT_US:419153005 xref: UMLS:C0018023 is_a: HP:0000853 ! Goiter [Term] id: HP:0005995 name: Decreased adipose tissue around neck def: "Reduced amount of adipose tissue in the region of the neck." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of adipose tissue around the neck" EXACT [] synonym: "Loss of fat around neck" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1837763 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0005997 name: Neck joint contracture synonym: "Neck joint contracture" EXACT [] synonym: "Restricted neck mobility due to contractures" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Restricted neck movement due to contractures" EXACT layperson [] xref: UMLS:C1867006 is_a: HP:0001371 ! Flexion contracture is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005999 name: Ureteral atresia def: "A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204974003 xref: SNOMEDCT_US:49534003 xref: UMLS:C0266320 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0006000 name: Ureteral obstruction def: "Obstruction of the flow of urine through the ureter." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:4492 xref: SNOMEDCT_US:20018005 xref: UMLS:C0041956 is_a: HP:0025634 ! Abnormal ureter physiology [Term] id: HP:0006006 name: Hypotrophy of the small hand muscles synonym: "Degeneration of small hand muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1843228 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0006008 name: Unilateral brachydactyly synonym: "Short digits on one side" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1868164 xref: UMLS:C4280467 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006009 name: Broad phalanx alt_id: HP:0006030 alt_id: HP:0006249 def: "Increased side-to-side width of one or more phalanges of the fingers or toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad phalanges" EXACT [] synonym: "Wide digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide phalanges" EXACT [] synonym: "Widened phalanges" EXACT [] xref: UMLS:C1855185 is_a: HP:0005622 ! Broad long bones is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0006011 name: Cuboidal metacarpal def: "Severely shortened metacarpal with a cuboidal appearance." [https://orcid.org/0000-0002-0736-9199] comment: The metacarpals are normally tubular in appearance. synonym: "Short, cube shaped long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025093 is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0006012 name: Widened metacarpal shaft synonym: "Broad shaft of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1850159 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006014 name: Abnormally shaped carpal bones synonym: "Abnormally shaped wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1860111 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0006016 name: Delayed phalangeal epiphyseal ossification def: "Delay in the process of formation and maturation of the epiphysis of one or more phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed bone maturation of end part of digital bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Delayed phalangeal epiphyseal bone maturation" EXACT [] xref: UMLS:C4021609 is_a: HP:0002663 ! Delayed epiphyseal ossification [Term] id: HP:0006019 name: Reduced proximal interphalangeal joint space synonym: "Decreased space in hinge joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861396 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006026 name: Rounded epiphyses synonym: "Rounded end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1850632 is_a: HP:0005924 ! Abnormal hand epiphysis morphology [Term] id: HP:0006028 name: Metaphyseal cupping of metacarpals alt_id: HP:0006131 def: "Metaphyseal cupping affecting the metacarpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Cupping of wide portion of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Metacarpal/metaphyseal cupping" EXACT [] xref: UMLS:C1855171 is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006035 name: Cone-shaped epiphyses of phalanges 2 to 5 synonym: "Cone-shaped end part of digital bones 2 to 5" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1857005 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand [Term] id: HP:0006040 name: Long second metacarpal synonym: "Long 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861531 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal [Term] id: HP:0006042 name: Y-shaped metacarpals def: "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly." [https://orcid.org/0000-0002-0736-9199] synonym: "Y-shaped long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861373 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006045 name: Short pointed phalanges synonym: "Short pointed digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849740 is_a: HP:0009803 ! Short phalanx of finger [Term] id: HP:0006048 name: Distal widening of metacarpals def: "Abnormal increase in width of the distal region of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide outermost end of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1865254 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006051 name: Metacarpal periosteal thickening xref: UMLS:C1834347 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0006055 name: Ulnar deviated club hands xref: UMLS:C1833881 is_a: HP:0009487 ! Ulnar deviation of the hand [Term] id: HP:0006059 name: Cone-shaped metacarpal epiphyses def: "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Metacarpal cone-shaped epiphyses" RELATED [] xref: UMLS:C1855239 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0006060 name: Tombstone-shaped proximal phalanges synonym: "Tombstone-shaped innermost digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1862420 is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand [Term] id: HP:0006064 name: Limited interphalangeal movement synonym: "Limited movement of hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1840089 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006067 name: Multiple carpal ossification centers def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple carpal ossification centres" EXACT uk_spelling [] xref: UMLS:C1835573 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006069 name: obsolete Severe carpal ossification delay is_obsolete: true replaced_by: HP:0001216 [Term] id: HP:0006070 name: Metacarpophalangeal joint contracture alt_id: HP:0005674 def: "A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [https://orcid.org/0000-0002-0736-9199] comment: In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be reserved for a painless flexion contracture of the proximal interphalangeal (PIP) joint. synonym: "Metacarpal/phalangeal joint contractures" EXACT [] xref: UMLS:C2677209 is_a: HP:0011911 ! Abnormal metacarpophalangeal joint morphology [Term] id: HP:0006077 name: Absent proximal finger flexion creases def: "Absence of the proximal interphalangeal flexion creases of the fingers." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1850048 is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0006086 name: Thin metacarpal cortices xref: UMLS:C1850160 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006088 name: 1-5 finger complete cutaneous syndactyly xref: UMLS:C1861357 is_a: HP:0010554 ! Cutaneous finger syndactyly [Term] id: HP:0006089 name: Palmar hyperhidrosis synonym: "Excessive sweating of hands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856953 is_a: HP:0000975 ! Hyperhidrosis is_a: HP:0040211 ! Abnormal skin morphology of the palm [Term] id: HP:0006092 name: Malaligned carpal bone def: "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)." [https://orcid.org/0009-0006-4530-3154] synonym: "Incorrect alignment of wrist bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856742 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0006094 name: Finger joint hypermobility synonym: "Increased mobility in finger joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:298193009 xref: UMLS:C0574974 is_a: HP:0001167 ! Abnormal finger morphology is_a: HP:0006256 ! Abnormality of hand joint mobility is_a: HP:0430046 ! Small joint hypermobilty [Term] id: HP:0006095 name: Wide tufts of distal phalanges synonym: "Wide tips of outermost digital bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1835101 is_a: HP:0006200 ! Widened distal phalanges [Term] id: HP:0006097 name: 3-4 finger osseus syndactyly alt_id: HP:0006133 def: "Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial or complete syndactyly 3rd-4th fingers" EXACT [] synonym: "Webbed 3rd-4th finger" EXACT [] synonym: "Webbed 3rd-4th fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856889 is_a: HP:0010492 ! Osseous finger syndactyly [Term] id: HP:0006099 name: Metacarpophalangeal joint hyperextensibility def: "Increased mobility of one ore more metacarpophalangeal joint." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025092 is_a: HP:0011911 ! Abnormal metacarpophalangeal joint morphology [Term] id: HP:0006101 name: Finger syndactyly alt_id: HP:0006057 def: "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial syndactyly" EXACT [] xref: SNOMEDCT_US:249769001 xref: SNOMEDCT_US:268251006 xref: SNOMEDCT_US:34048007 xref: UMLS:C0221352 is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006106 name: Absent trapezoid bone xref: UMLS:C1847191 is_a: HP:0004256 ! Abnormal trapezoid bone morphology [Term] id: HP:0006107 name: Fingerpad telangiectases alt_id: HP:0006246 def: "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Finger pad telangiectases" EXACT [] synonym: "Small dilated blood vessels in fingerpads" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861248 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0006108 name: Tapered metacarpals def: "Metacarpal that becomes thinner toward the distal end." [https://orcid.org/0000-0002-0736-9199] synonym: "Tapered long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025091 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006109 name: Absent phalangeal crease alt_id: HP:0006031 def: "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers)." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent interphalangeal creases" EXACT [] synonym: "Aplasia of the interphalangeal creases" RELATED [] xref: UMLS:C1862479 xref: UMLS:C4020821 is_a: HP:0006143 ! Abnormal finger flexion crease [Term] id: HP:0006110 name: Shortening of all middle phalanges of the fingers def: "Short, hypoplastic middle phalanx of finger, affecting all fingers." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856912 is_a: HP:0005819 ! Short middle phalanx of finger [Term] id: HP:0006112 name: Expanded phalanges with widened medullary cavities xref: UMLS:C1969287 is_a: HP:0009768 ! Broad phalanges of the hand [Term] id: HP:0006114 name: Multiple palmar creases def: "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple palm lines" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861872 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006118 name: Shortening of all distal phalanges of the fingers alt_id: HP:0005658 def: "Hypoplasia of all of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachytelephalangy" RELATED [] synonym: "Shortening of all outermost bones of the fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021608 is_a: HP:0009882 ! Short distal phalanx of finger [Term] id: HP:0006119 name: Proximal tapering of metacarpals def: "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Pointed innermost long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pointed proximal metacarpals" EXACT [https://orcid.org/0009-0006-4530-3154] xref: UMLS:C1854749 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006121 name: Acral ulceration alt_id: HP:0001226 alt_id: HP:0001862 alt_id: HP:0005040 def: "A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe." [PMID:20862203] xref: UMLS:C1860099 is_a: HP:0031917 ! Digital ulcer [Term] id: HP:0006127 name: Long proximal phalanx of finger def: "Increased length of the proximal phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Long innermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025090 is_a: HP:0006155 ! Long phalanx of finger is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand [Term] id: HP:0006129 name: Drumstick terminal phalanges def: "Rounding and broadening of the tufts of the distal phalanges." [https://orcid.org/0000-0002-0736-9199] comment: This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg). synonym: "Drumstick shaped digital bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1844822 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger [Term] id: HP:0006134 name: Enlarged metacarpal epiphyses def: "Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges)." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1865035 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0006135 name: Decreased finger mobility synonym: "Decreased finger mobility" EXACT layperson [] synonym: "Decreased finger movement" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1862133 is_a: HP:0006256 ! Abnormality of hand joint mobility [Term] id: HP:0006136 name: Bilateral postaxial polydactyly xref: UMLS:C1855003 is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0006140 name: Premature fusion of phalangeal epiphyses def: "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature fusion of end part of digital bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855620 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0006143 name: Abnormal finger flexion crease def: "Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger)." [] synonym: "Abnormal finger flexion creases" EXACT plural_form [] xref: UMLS:C1859481 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0006144 name: Shortening of all proximal phalanges of the fingers alt_id: HP:0006021 def: "Congenital hypoplasia of proximal phalanx of finger or all fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Shortening of all innermost bones of the fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025089 is_a: HP:0010241 ! Short proximal phalanx of finger [Term] id: HP:0006145 name: Central Y-shaped metacarpal def: "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Y-shaped central long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1848597 is_a: HP:0006042 ! Y-shaped metacarpals [Term] id: HP:0006146 name: Broad metacarpal epiphyses def: "Increased side-to-side width of the metacarpal epiphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad end part of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025088 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology [Term] id: HP:0006147 name: Progressive fusion 2nd-5th pip joints xref: UMLS:C1861310 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006149 name: Increased laxity of fingers xref: UMLS:C1850855 is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0006150 name: Swan neck-like deformities of the fingers def: "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1849152 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0006152 name: Proximal symphalangism of hands alt_id: HP:0006005 def: "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases." [https://orcid.org/0009-0006-4530-3154] synonym: "Fused innermost hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Proximal interphalangeal joint synostoses" EXACT [] xref: UMLS:C4021607 is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0100264 ! Proximal symphalangism [Term] id: HP:0006153 name: obsolete Disharmonious carpal bone is_obsolete: true replaced_by: HP:0006257 [Term] id: HP:0006155 name: Long phalanx of finger def: "Increased length of multiple or a single phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Long finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025087 is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0006156 name: Ulnar deviation of thumb def: "Bending or curvature of a thumb towards the ulnar side (towards the ring finger)." [https://orcid.org/0000-0002-0736-9199, PMID:10955488] synonym: "Curved thumb deviated towards palm" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ulnar deviation of the 1st finger" EXACT [] xref: SNOMEDCT_US:299137000 xref: UMLS:C0575904 xref: UMLS:C4280465 is_a: HP:0009465 ! Ulnar deviation of finger is_a: HP:0009603 ! Deviation of the thumb [Term] id: HP:0006157 name: Prominent palmar flexion creases synonym: "Prominent life line" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1865131 xref: UMLS:C4280464 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006158 name: obsolete Finger joint hyperextensibility is_obsolete: true [Term] id: HP:0006159 name: Mesoaxial hand polydactyly alt_id: HP:0001496 alt_id: HP:0004056 def: "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Central hand polydactyly" RELATED [] synonym: "Interdigital finger polydactyly" EXACT [] xref: UMLS:C4021606 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0100260 ! Mesoaxial polydactyly [Term] id: HP:0006160 name: Irregular metacarpals def: "Irregular morphology of one or more metacarpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025086 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006161 name: Short metacarpals with rounded proximal ends synonym: "Short long bone of hand with rounded innermost ends" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856471 is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0006162 name: Soft tissue swelling of interphalangeal joints synonym: "Soft tissue swelling of hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1854913 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006163 name: Enlarged metacarpophalangeal joints xref: UMLS:C1859700 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006165 name: Proportionate shortening of all digits synonym: "Proportionate shortening of all digits" EXACT layperson [] xref: UMLS:C1862157 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0006166 name: Tubular metacarpal bones synonym: "Cylindrical shaped long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859369 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006167 name: Prominent proximal interphalangeal joints synonym: "Prominent innermost hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025085 is_a: HP:0006237 ! Prominent interphalangeal joints [Term] id: HP:0006169 name: Decreased mobility 3rd-5th fingers synonym: "Decreased mobility 3rd-5th fingers" EXACT layperson [] xref: UMLS:C1833882 is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006170 name: Chess-pawn distal phalanges def: "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns." [https://orcid.org/0000-0002-0736-9199] synonym: "Chess-pawn shaped outermost bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1862097 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger [Term] id: HP:0006172 name: Flattened, squared-off epiphyses of tubular bones synonym: "Flattened, squared-off end part of tubular bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834961 is_a: HP:0003053 ! Epiphyseal deformities of tubular bones is_a: HP:0003071 ! Flattened epiphysis [Term] id: HP:0006174 name: Metacarpal diaphyseal endosteal sclerosis def: "Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1840419 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0006175 name: Proximal phalangeal periosteal thickening synonym: "Thickening of connective tissue of innermost finger bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834348 xref: UMLS:C4280463 is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0006176 name: Two carpal ossification centers present at birth synonym: "Two carpal ossification centres present at birth" EXACT uk_spelling [] xref: UMLS:C1839285 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006179 name: Pseudoepiphyses of second metacarpal alt_id: HP:0010221 synonym: "Extra bone on end of second long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pseudoepiphysis of the 2nd metacarpal" EXACT [] xref: UMLS:C1862693 is_a: HP:0009193 ! Metacarpal pseudoepiphysis is_a: HP:0010220 ! Abnormality of the epiphysis of the 2nd metacarpal [Term] id: HP:0006180 name: Crowded carpal bones synonym: "Crowded wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1863317 is_a: HP:0001191 ! Abnormal carpal morphology [Term] id: HP:0006184 name: Decreased palmar creases alt_id: HP:0006178 def: "Poorly defined or shallow palmar creases." [PMID:19125433] subset: hposlim_core synonym: "Hypoplastic palmar creases" EXACT [] synonym: "Poorly formed palmar creases" EXACT [] synonym: "Shallow palm line" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Shallow palmar creases" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1857483 is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases [Term] id: HP:0006185 name: Enlarged proximal interphalangeal joints synonym: "Enlarged innermost hinge joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861350 is_a: HP:0006247 ! Enlarged interphalangeal joints [Term] id: HP:0006187 name: obsolete Fusion of midphalangeal joints is_obsolete: true replaced_by: HP:0009773 [Term] id: HP:0006189 name: Prominent interdigital folds xref: UMLS:C1866000 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006190 name: Radially deviated wrists xref: UMLS:C1861316 is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0006191 name: Deep palmar crease def: "Excessively deep creases of the palm." [PMID:19125433] subset: hposlim_core synonym: "Deep palm line" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Deep palmar creases" EXACT [] xref: UMLS:C1857539 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006192 name: Tapered phalanx of finger def: "Phalanges of the fingers becoming thinner toward the distal end." [https://orcid.org/0000-0002-0736-9199] synonym: "Tapered finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025084 is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0006193 name: Thimble-shaped middle phalanges of hand def: "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Thimble-shaped middle bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025083 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand [Term] id: HP:0006200 name: Widened distal phalanges synonym: "Widened outermost bone of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1862421 is_a: HP:0006009 ! Broad phalanx [Term] id: HP:0006201 name: Hypermobility of distal interphalangeal joints synonym: "Increased mobility of outermost hinge joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1851811 is_a: HP:0005620 ! Hypermobility of interphalangeal joints [Term] id: HP:0006202 name: Osteolysis of scaphoids xref: UMLS:C4025082 is_a: HP:0004243 ! Abnormal scaphoid morphology is_a: HP:0009699 ! Osteolytic defects of the hand bones [Term] id: HP:0006203 name: Decreased movement range in interphalangeal joints synonym: "Decreased range of movement range in hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836772 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006205 name: Irregular phalanges def: "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025081 is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0006206 name: Hypersegmentation of proximal phalanx of second finger def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199] comment: This anomaly is characteristic for brachydactyly type C. xref: UMLS:C4025080 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger [Term] id: HP:0006207 name: Partial fusion of carpals xref: UMLS:C1844519 is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0006208 name: Metaphyseal cupping of proximal phalanges def: "Metaphyseal cupping affecting the proximal phalanges." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1834980 is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006209 name: Partial-complete absence of 5th phalanges synonym: "Partial-complete absence of 5th digital bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1867928 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger [Term] id: HP:0006210 name: Postaxial oligodactyly xref: UMLS:C1867927 is_a: HP:0009380 ! Finger aplasia [Term] id: HP:0006213 name: Thin proximal phalanges with broad epiphyses of the hand comment: removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal)) synonym: "Thin innermost bone with broad end part of the hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Thin proximal phalanges with broad epiphyses" BROAD [] xref: UMLS:C1862156 xref: UMLS:C4025079 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand [Term] id: HP:0006216 name: Single interphalangeal crease of fifth finger alt_id: HP:0006245 def: "Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fifth finger single interphalangeal crease" EXACT [] xref: UMLS:C1850336 is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0006217 name: Limited mobility of proximal interphalangeal joint synonym: "Limited mobility of innermost hinge joint" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1857288 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006224 name: Tapering pointed ends of distal finger phalanges def: "A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms)." [https://orcid.org/0000-0002-0736-9199, PMID:10662807] xref: UMLS:C4025078 is_a: HP:0009884 ! Tapered distal phalanges of finger [Term] id: HP:0006226 name: Osteoarthritis of the first carpometacarpal joint xref: SNOMEDCT_US:37895003 xref: UMLS:C0409956 is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006228 name: Valgus hand deformity xref: UMLS:C1860179 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0006230 name: Unilateral oligodactyly xref: UMLS:C3805861 is_a: HP:0009380 ! Finger aplasia [Term] id: HP:0006232 name: Expanded metacarpals with widened medullary cavities xref: UMLS:C1969288 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006233 name: Osteoarthritis of the distal interphalangeal joint xref: SNOMEDCT_US:239869009 xref: UMLS:C0409957 is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006234 name: Osteolysis involving tarsal bones alt_id: HP:0001858 def: "An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones." [https://orcid.org/0009-0006-4530-3154] synonym: "Tarsal bone osteolysis" EXACT [] synonym: "Tarsal osteolysis" EXACT [] xref: UMLS:C1833735 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0009134 ! Osteolysis involving bones of the feet property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0006236 name: Slender metacarpals def: "Decreased width of the metacarpal bones (that is, reduced diameter)." [https://orcid.org/0000-0002-0736-9199] synonym: "Slender long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025077 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006237 name: Prominent interphalangeal joints synonym: "Prominent hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859115 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006239 name: Shortening of all middle phalanges of the toes def: "Abnormal shortening of all middle phalanges of toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachymesophalangy of feet" EXACT [] synonym: "Shortening of all the middle bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021605 is_a: HP:0003795 ! Short middle phalanx of toe [Term] id: HP:0006243 name: Phalangeal dislocation xref: UMLS:C2673396 is_a: HP:0001373 ! Joint dislocation is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0006247 name: Enlarged interphalangeal joints synonym: "Enlarged hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859701 is_a: HP:0003037 ! Enlarged joints is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006248 name: Limited wrist movement def: "An abnormal limitation of the mobility of the wrist." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Limited movement of the wrist" EXACT layperson [] synonym: "Limited wrist movement" EXACT layperson [] xref: UMLS:C1840088 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0025799 ! Abnormal wrist physiology [Term] id: HP:0006251 name: Limited wrist extension xref: UMLS:C1862481 is_a: HP:0006248 ! Limited wrist movement [Term] id: HP:0006252 name: Interphalangeal joint erosions xref: UMLS:C1850158 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006253 name: Swelling of proximal interphalangeal joints synonym: "Swelling of innermost hinge joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1860841 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006254 name: Elevated circulating alpha-fetoprotein concentration def: "Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti] comment: An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele. synonym: "Alpha fetoprotein abnormal" RELATED [] synonym: "Increased levels of alpha fetoprotein" EXACT [] synonym: "Increased serum alpha-fetoprotein" EXACT [] synonym: "Serum alpha-fetoprotein increased" EXACT [] xref: UMLS:C0235971 xref: UMLS:C0476489 is_a: HP:0045056 ! Abnormal circulating alpha-fetoprotein concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T09:17:00Z [Term] id: HP:0006256 name: Abnormality of hand joint mobility synonym: "Abnormality of hand joint mobility" EXACT layperson [] xref: UMLS:C4025076 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0011729 ! Abnormality of joint mobility property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T10:14:00Z [Term] id: HP:0006257 name: Abnormality of carpal bone ossification alt_id: HP:0006153 synonym: "Abnormal wrist bone maturation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025075 is_a: HP:0001191 ! Abnormal carpal morphology is_a: HP:0010660 ! Abnormal hand bone ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T02:29:00Z [Term] id: HP:0006261 name: Abnormal phalangeal joint morphology of the hand alt_id: HP:0004266 synonym: "Abnormality of phalangeal joints of the hand" EXACT [] synonym: "Abnormality of the small joints of the hand" EXACT layperson [] xref: UMLS:C4021604 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T02:55:00Z [Term] id: HP:0006262 name: Aplasia/Hypoplasia of the 5th finger def: "A small/hypoplastic or absent/aplastic 5th finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Absent/small little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025074 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T02:59:00Z [Term] id: HP:0006263 name: Abnormality of the epiphyses of the 2nd finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025073 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T03:04:00Z [Term] id: HP:0006264 name: Aplasia/Hypoplasia of the 2nd finger def: "A small/hypoplastic or absent/aplastic 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025072 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T03:06:00Z [Term] id: HP:0006265 name: Aplasia/Hypoplasia of fingers def: "Small/hypoplastic or absent/aplastic fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025071 is_a: HP:0001167 ! Abnormal finger morphology is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T03:09:00Z [Term] id: HP:0006266 name: Small placenta def: "Reduced size of the placenta." [https://orcid.org/0000-0002-0736-9199] synonym: "Small placenta" EXACT layperson [] xref: SNOMEDCT_US:289264006 xref: UMLS:C0566694 is_a: HP:0012767 ! Abnormal placental size [Term] id: HP:0006267 name: Large placenta def: "Increased size of the placenta." [https://orcid.org/0000-0002-0736-9199] synonym: "Large placenta" EXACT layperson [] synonym: "Placental enlargement" EXACT [] xref: SNOMEDCT_US:289263000 xref: UMLS:C0566693 is_a: HP:0012767 ! Abnormal placental size [Term] id: HP:0006268 name: Fluctuating splenomegaly def: "Intermittently increased size of the spleen." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1835882 is_a: HP:0001744 ! Splenomegaly [Term] id: HP:0006270 name: Hypoplastic spleen def: "Underdevelopment of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped spleen" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1970617 is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen [Term] id: HP:0006273 name: Pancreatic lymphangiectasis def: "The presence of lymphangiectasis in the pancreas." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856162 is_a: HP:0012090 ! Abnormal pancreas morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0006274 name: Reduced pancreatic beta cells def: "Reduced number of beta cells in the pancreatic islets of Langerhans." [https://orcid.org/0000-0002-0736-9199] comment: The beta cells are responsible for producing insulin and amylin. xref: UMLS:C1856904 is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0006276 name: Hyperechogenic pancreas xref: UMLS:C1857945 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0006277 name: Pancreatic hyperplasia def: "Hyperplasia of the pancreas." [https://orcid.org/0000-0002-0736-9199] comment: Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process. xref: UMLS:C1851733 is_a: HP:0012094 ! Abnormal pancreas size [Term] id: HP:0006278 name: Ectopic pancreatic tissue def: "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pancreas location" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:264304000 xref: UMLS:C0994638 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0006279 name: Beta-cell dysfunction xref: UMLS:C1969875 is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0006280 name: Chronic pancreatitis def: "A chronic form of pancreatitis." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic pancreas inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:233870001 xref: SNOMEDCT_US:234689009 xref: SNOMEDCT_US:235494005 xref: UMLS:C0149521 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0006282 name: Generalized hypoplasia of dental enamel def: "A generalized form of developmental hypoplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017] synonym: "Generalised dysplasia of tooth enamel" RELATED uk_spelling [] synonym: "Generalised hypoplasia of dental enamel" EXACT uk_spelling [] synonym: "Generalised hypoplasia of tooth enamel" EXACT uk_spelling [] synonym: "Generalized dysplasia of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Generalized hypoplasia of tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025070 xref: UMLS:C4280462 is_a: HP:0006297 ! Enamel hypoplasia [Term] id: HP:0006283 name: Multiple unerupted teeth def: "The presence of multiple embedded tooth germs which have failed to erupt." [https://orcid.org/0000-0002-9338-3017] synonym: "Failure of eruption of multiple teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple non-erupting teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple unerupted teeth" EXACT layperson [] xref: UMLS:C4025069 is_a: HP:0000706 ! Eruption failure [Term] id: HP:0006285 name: Enamel hypomineralization alt_id: HP:0006359 def: "A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect." [https://orcid.org/0000-0002-0736-9199, PMID:31468724] comment: Enamel hypomineralization can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. It may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypomineralization is a qualitative defect of enamel, in which the enamel can be rough and softer. Affected teeth may be sensitive. Enamel hypomineralization can be part of molar incisor hypomineralization (hypomineralisation of systemic origin of one to four permanent first molars, frequently associated with affected incisors) and of hypomineralized second primary molars (or deciduous molar hypomineralisation, which indicates idiopathic hypomineralization of one to four second deciduous molars). synonym: "Decreased enamel mineralisation" EXACT [] synonym: "Fluorosis of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypomineralization of enamel" EXACT [] synonym: "Increased porosity of tooth enamel" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Mottled tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Poorly mineralized tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "White spot lesions of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:109487003 xref: UMLS:C3665628 xref: UMLS:C4280253 xref: UMLS:C4280460 xref: UMLS:C4280461 is_a: HP:0000682 ! Abnormal dental enamel morphology [Term] id: HP:0006286 name: Yellow-brown discoloration of the teeth synonym: "Yellow-brown discoloration of the teeth" EXACT layperson [] synonym: "Yellow-brown discolored teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Yellow-brown discoloured teeth" EXACT uk_spelling [] synonym: "Yellow-brown tooth shade" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1863008 is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0006288 name: Advanced eruption of teeth alt_id: HP:0006317 def: "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age." [https://orcid.org/0000-0002-9338-3017, PMID:19125428] comment: There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. synonym: "Advanced dental eruption" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Advanced tooth eruption" EXACT [] synonym: "Early dental eruption" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Early eruption of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eruption, advanced" EXACT [] synonym: "Premature dental eruption" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Premature eruption of teeth" EXACT [] synonym: "Premature tooth eruption" EXACT [] xref: SNOMEDCT_US:16000003 xref: UMLS:C0266054 is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0006289 name: Agenesis of central incisor alt_id: HP:0006320 def: "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absent central incisor" EXACT layperson [] synonym: "Absent central incisors" RELATED layperson [] synonym: "Failure of development of central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing central incisors" RELATED layperson [] xref: UMLS:C1855000 xref: UMLS:C4020819 is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0006290 name: Discolored lateral incisors def: "The presence of discolored lateral incisors." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of color of front teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of color of lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of colour of front teeth" BROAD uk_spelling [] synonym: "Abnormality of colour of lateral incisor" BROAD uk_spelling [] synonym: "Abnormality of shade of lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Discolored front teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Discoloured front teeth" BROAD uk_spelling [] synonym: "Discoloured lateral incisors" EXACT uk_spelling [] xref: UMLS:C1866510 xref: UMLS:C4280459 is_a: HP:0011063 ! Abnormal incisor morphology [Term] id: HP:0006291 name: Marked delay in eruption of permanent teeth synonym: "Severe delay of eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Severe delay of eruption of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Very late eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Very late eruption of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1863009 is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0006292 name: Abnormality of dental eruption def: "An abnormality of tooth eruption." [https://orcid.org/0000-0002-9338-3017] comment: The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars. synonym: "Abnormal dental eruption" EXACT [] synonym: "Abnormality of tooth eruption" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of dental eruption" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of tooth eruption" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of dental eruption" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of tooth eruption" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Disturbance of dental eruption" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Disturbance of tooth eruption" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:1086101000119107 xref: SNOMEDCT_US:234949000 xref: UMLS:C0012767 xref: UMLS:C1859363 xref: UMLS:C3874458 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0006293 name: Agenesis of maxillary central incisor def: "Agenesis of upper secondary incisor or of upper central primary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025068 xref: UMLS:C4280458 is_a: HP:0006289 ! Agenesis of central incisor is_a: HP:0200160 ! Agenesis of maxillary incisor [Term] id: HP:0006297 name: Enamel hypoplasia alt_id: HP:0000671 alt_id: HP:0001565 alt_id: HP:0003770 def: "Developmental hypoplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017, PMID:18499550, PMID:31468724] comment: Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue. synonym: "Defective enamel matrix" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Dental enamel hypoplasia" EXACT [] synonym: "Dysplasia of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Enamel dysplasia" RELATED [] synonym: "Enamel hypotrophy" EXACT [] synonym: "Enamel, underdeveloped" EXACT [] synonym: "Hypoplasia of dental enamel" EXACT [] synonym: "Hypoplasia of tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin dental enamel" BROAD layperson [] synonym: "Thin tooth enamel" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdeveloped teeth enamel" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:26597004 xref: SNOMEDCT_US:699382004 xref: SNOMEDCT_US:699421005 xref: UMLS:C0011351 xref: UMLS:C1851854 xref: UMLS:C4280456 xref: UMLS:C4280457 is_a: HP:0000682 ! Abnormal dental enamel morphology is_a: HP:0000685 ! Hypoplasia of teeth [Term] id: HP:0006298 name: Prolonged bleeding after dental extraction def: "Prolonged bleeding post dental extraction sufficient to require medical intervention." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790] synonym: "Prolonged bleeding after dental extraction" EXACT layperson [] xref: UMLS:C1969572 is_a: HP:0011890 ! Prolonged bleeding following procedure [Term] id: HP:0006302 name: Dagger-shaped pulp calcifications def: "Dagger-shaped calcifications in the dental pulp." [https://orcid.org/0000-0002-9338-3017] synonym: "Dagger shaped pulp denticles" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dagger shaped pulp stones" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025067 is_a: HP:0003771 ! Pulp calcification [Term] id: HP:0006304 name: Widely-spaced incisors synonym: "Anterior diastema of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Diastema between front teeth" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Diastema between incisors" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Gap between front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Widely spaced front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:196409003 xref: UMLS:C0399545 is_a: HP:0000699 ! Diastema is_a: HP:0040159 ! Abnormal spaced incisors [Term] id: HP:0006308 name: Atrophy of alveolar ridges synonym: "Alveolar bone loss" RELATED [] synonym: "Atrophy of alveolar margins" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Atrophy of alveolar processes of jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of alveolar margin" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of alveolar ridges" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of gum ridges" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Resorption of alveolar margins" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Resorption of alveolar processes of jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Resorption of alveolar ridges" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Shrinking of alveolar ridges" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Shrinking of gum ridges" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855642 xref: UMLS:C4280454 xref: UMLS:C4280455 is_a: HP:0006477 ! Abnormal alveolar ridge morphology [Term] id: HP:0006311 name: Generalized microdontia def: "A generalized form of microdontia." [https://orcid.org/0000-0002-9338-3017] synonym: "Decreased size of all teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased tooth mass" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of all teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Generalised microdontia" EXACT uk_spelling [] synonym: "Hypotrophy of all teeth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth mass insufficiency" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025065 is_a: HP:0000691 ! Microdontia [Term] id: HP:0006313 name: Widely spaced primary teeth def: "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia." [https://orcid.org/0000-0002-9338-3017] synonym: "Generalised spacing of primary teeth" EXACT uk_spelling [] synonym: "Generalized spacing of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide gaps between baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide gaps between primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Widely spaced baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Widely spaced deciduous teeth" EXACT [] synonym: "Widely spaced milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021603 is_a: HP:0000687 ! Widely spaced teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006315 name: Solitary median maxillary central incisor alt_id: HP:0001568 alt_id: HP:0001573 alt_id: HP:0006356 def: "A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors." [PMID:19125428] comment: The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-ray examinations. subset: hposlim_core synonym: "Only one upper front tooth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Single central incisor" EXACT [] synonym: "Single central upper incisor" EXACT [] synonym: "Single maxillary central incisor" EXACT [] synonym: "Single median incisor" EXACT [] synonym: "Single median maxillary incisor" EXACT [] synonym: "Single midline maxillary incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Single midline upper front tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Solitary median maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Solitary median maxillary central incisor syndrome" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Solitary midline maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:707609006 xref: UMLS:C1840235 is_a: HP:0011064 ! Abnormal number of incisors [Term] id: HP:0006316 name: Irregularly spaced teeth alt_id: HP:0009081 def: "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Irregular dental spacing" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Irregularly spaced teeth" EXACT layperson [] synonym: "Variability of dental spacing" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Variability of spacing between teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845878 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0006321 name: Multiple non-erupting secondary teeth synonym: "Failure of eruption of multiple adult teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of eruption of multiple permanent teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple non-erupting adult teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple non-erupting permanent teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple unerupted adult teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple unerupted permanent teeth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1848904 is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0006323 name: Premature loss of primary teeth alt_id: HP:0006319 alt_id: HP:0006351 def: "Loss of the primary (also known as deciduous) teeth before the usual age." [https://orcid.org/0009-0006-4530-3154] comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth. subset: hposlim_core synonym: "Early loss of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Early loss of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Early loss of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Premature deciduous tooth loss" EXACT [] synonym: "Premature exfoliation of deciduous teeth" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Premature exfoliation of primary teeth" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Premature loss of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premature loss of deciduous teeth" EXACT [] xref: SNOMEDCT_US:122483006 xref: SNOMEDCT_US:39034005 xref: UMLS:C0266052 is_a: HP:0006480 ! Premature loss of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006326 name: Buried teeth encased in mucopolysaccharide synonym: "Failure of dental eruption due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of tooth eruption due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Impacted teeth due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Unerupted dentition due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Unerupted teeth due to mucopolysaccharidoses" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025064 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0006329 name: Alveolar process hypoplasia alt_id: HP:0006312 def: "Underdevelopment of the alveolar process (also known as alveolar bone)." [https://orcid.org/0000-0002-0736-9199] comment: The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla. synonym: "Decreased size of alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of alveolar process of jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of alveolar ridge" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of alveolar ridge" EXACT [] synonym: "Hypoplastic alveolar bone" EXACT [] synonym: "Hypotrophic alveolar process of jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic alveolar ridge" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:708494003 xref: UMLS:C1848905 xref: UMLS:C3872671 xref: UMLS:C4280451 xref: UMLS:C4280452 xref: UMLS:C4280453 is_a: HP:0006477 ! Abnormal alveolar ridge morphology [Term] id: HP:0006330 name: Rotated maxillary central incisors synonym: "Rotated upper central incisors" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Rotated upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Turned upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Twisted upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025063 is_a: HP:0011062 ! Misalignment of incisors [Term] id: HP:0006332 name: Supernumerary maxillary incisor def: "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Extra upper front tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025062 is_a: HP:0011064 ! Abnormal number of incisors is_a: HP:0011069 ! Supernumerary tooth [Term] id: HP:0006333 name: Crowded maxillary incisors def: "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Crowded upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crowded upper incisors" EXACT layperson [] synonym: "Overlapped maxillary incisors" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Overlapped upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021602 is_a: HP:0011062 ! Misalignment of incisors [Term] id: HP:0006334 name: Hypoplasia of the primary teeth alt_id: HP:0006318 def: "Developmental hypoplasia of the primary teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Decreased size of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic deciduous teeth" EXACT [] synonym: "Small baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855694 is_a: HP:0000685 ! Hypoplasia of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006335 name: Persistence of primary teeth alt_id: HP:0003772 alt_id: HP:0006299 alt_id: HP:0006305 alt_id: HP:0006341 alt_id: HP:0006354 def: "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth." [https://orcid.org/0000-0002-9338-3017] comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars. synonym: "Deciduous teeth retention" EXACT [] synonym: "Delayed loss of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed loss of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed loss of primary teeth" EXACT [] synonym: "Failure to exfoliate deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure to exfoliate primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure to lose baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Persistence of deciduous teeth" EXACT [] synonym: "Persistent deciduous dentition" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Persistent primary dentition" EXACT [] synonym: "Persistent primary teeth" EXACT [] synonym: "Retained baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Retained deciduous teeth" EXACT [] synonym: "Retained primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:57650002 xref: UMLS:C0266050 is_a: HP:0006292 ! Abnormality of dental eruption is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006336 name: Short dental root def: "Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length." [https://orcid.org/0000-0002-0736-9199, PMID:31468724] synonym: "Decreased length of dental roots" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of tooth roots" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dental root hypoplasia" EXACT [] synonym: "Dental root hypotrophy" EXACT [] synonym: "Rhizomicry" EXACT [] synonym: "Root dwarfism" EXACT [] synonym: "Short dental roots" EXACT layperson [] synonym: "Short tooth roots" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdeveloped dental roots" EXACT layperson [] synonym: "Underdeveloped tooth roots" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2678330 is_a: HP:0040220 ! Abnormal size of the dental root [Term] id: HP:0006337 name: Premature eruption of permanent teeth def: "Premature tooth eruption of the permanent dentition." [https://orcid.org/0000-0002-9338-3017] subset: hposlim_core synonym: "Early eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Early eruption of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Precocious eruption of secondary dentition" EXACT [] synonym: "Precocious eruption of secondary teeth" EXACT [] synonym: "Premature eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021601 is_a: HP:0006288 ! Advanced eruption of teeth [Term] id: HP:0006338 name: Malformation of mandibular premolar def: "An abnormality of the morphology of secondary premolar tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Malformation of lower premolar" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of mandibular bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025061 is_a: HP:0011080 ! Abnormal premolar morphology [Term] id: HP:0006339 name: Conical mandibular incisor def: "An abnormal conical morphology of the primary or permanent mandibular incisors." [https://orcid.org/0000-0002-9338-3017] synonym: "Cone shaped lower front tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Conoid mandibular incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lower front shark tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped lower front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped mandibular incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed mandibular incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed mandibular incisors" RELATED [] xref: UMLS:C4020818 xref: UMLS:C4280449 xref: UMLS:C4280450 is_a: HP:0011065 ! Conical incisor [Term] id: HP:0006342 name: Peg-shaped maxillary lateral incisors def: "A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter" [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: A peg shape appearance of a tooth occurs in lateral incisors only. A peg-shaped tooth is a microdont tooth and may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. synonym: "Cone shaped upper lateral incisors" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Conical maxillary lateral incisors" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Conoid upper lateral incisors" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Peg laterals" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped upper lateral incisors" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed upper lateral incisors" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025060 is_a: HP:0011065 ! Conical incisor [Term] id: HP:0006344 name: Abnormal primary molar morphology def: "An abnormality of morphology of primary molar." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of deciduous molar morphology" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of primary molar morphology" EXACT [] synonym: "Abnormality of shape of baby molar" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of shape of primary molar" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025059 is_a: HP:0006481 ! Abnormality of primary teeth is_a: HP:0011070 ! Abnormal molar morphology [Term] id: HP:0006346 name: Screwdriver-shaped incisors def: "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape." [https://orcid.org/0000-0002-9338-3017] synonym: "Screwdriver shaped front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Screwdriver-shaped incisors" EXACT layperson [] xref: UMLS:C4025058 is_a: HP:0011063 ! Abnormal incisor morphology [Term] id: HP:0006347 name: Microdontia of primary teeth def: "Decreased size of the primary teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Decreased size of primary tooth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of primary tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Microdontia of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small deciduous teeth" EXACT [] xref: UMLS:C1855694 xref: UMLS:C1856203 is_a: HP:0000691 ! Microdontia is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006349 name: Agenesis of permanent teeth alt_id: HP:0000681 alt_id: HP:0006287 alt_id: HP:0008498 def: "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of permanent teeth" EXACT layperson [] synonym: "Absence of secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Absent permanent teeth" EXACT [] synonym: "Agenesis of permanent dentition" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of secondary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent teeth" EXACT layperson [] synonym: "No permanent dentition" EXACT [] xref: SNOMEDCT_US:109444001 xref: SNOMEDCT_US:234948008 xref: UMLS:C0457756 xref: UMLS:C1290511 is_a: HP:0009804 ! Tooth agenesis is_a: HP:0011044 ! Abnormal number of permanent teeth [Term] id: HP:0006350 name: Pulp obliteration def: "Mineralized substance filling the entire dental pulp space." [PMID:162890, PMID:31468724] comment: The diagnosis pulp obliteration can be established using radiological studies. Gradual obliteration of the pulp is a physiologic process that occurs with aging. On radiographs the contours of the pulp disappear in part or totally, but histologically pulpal tissue remains present. synonym: "Crescent/chevron-shaped pulp chambers" RELATED [] synonym: "Narrowing of pulp chamber of tooth" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Obliteration of the pulp chamber" EXACT [] synonym: "Pulp canal obliteration" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced size of pulp chamber of tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small pulp chamber of tooth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4020817 xref: UMLS:C4025057 xref: UMLS:C4280448 is_a: HP:0006479 ! Abnormal dental pulp morphology [Term] id: HP:0006352 name: Failure of eruption of permanent teeth alt_id: HP:0006309 def: "Lack of tooth eruption of the secondary dentition." [https://orcid.org/0000-0002-9338-3017] synonym: "Failure of eruption of adult teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Unerupted adult dentition" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Unerupted adult teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unerupted permanent dentition" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Unerupted permanent teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025056 xref: UMLS:C4280447 is_a: HP:0000706 ! Eruption failure [Term] id: HP:0006353 name: Hypoplasia of the tooth germ def: "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Decreased size of tooth bud" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of tooth germ" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic tooth buds" RELATED [] synonym: "Hypotrophic tooth germ" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small tooth bud" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small tooth germ" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of tooth bud" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of tooth germ" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025055 is_a: HP:0000685 ! Hypoplasia of teeth [Term] id: HP:0006355 name: Agenesis of mandibular central incisor def: "Agenesis of lower secondary incisor or lower primary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of lower central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing lower central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1840225 xref: UMLS:C4025054 is_a: HP:0006289 ! Agenesis of central incisor is_a: HP:0200161 ! Agenesis of mandibular incisor [Term] id: HP:0006357 name: Premature loss of permanent teeth def: "Premature loss of the permanent teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Early loss of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Early loss of permanent teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Early loss of secondary dentition" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Premature loss of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premature loss of secondary teeth" EXACT [] xref: UMLS:C1969738 is_a: HP:0006480 ! Premature loss of teeth [Term] id: HP:0006358 name: Shovel-shaped maxillary central incisors def: "A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces." [PMID:2212205, PMID:31468724] synonym: "Shovel tooth" EXACT [] synonym: "Shovel-shaped upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1833168 is_a: HP:0011063 ! Abnormal incisor morphology [Term] id: HP:0006361 name: Irregular femoral epiphysis synonym: "Irregular thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1850658 is_a: HP:0006499 ! Abnormal femoral epiphysis morphology is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0006362 name: Varus deformity of humeral neck xref: UMLS:C1854948 is_a: HP:0003887 ! Abnormal humeral head morphology [Term] id: HP:0006366 name: Adductor longus contractures xref: UMLS:C1859524 is_a: HP:0005750 ! Lower-limb joint contracture [Term] id: HP:0006367 name: Crumpled long bones def: "An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta." [https://orcid.org/0000-0002-0736-9199] synonym: "Crumpled long bones" EXACT layperson [] xref: UMLS:C1970497 is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0006368 name: Forearm reduction defects xref: UMLS:C1849327 is_a: HP:0002973 ! Abnormal forearm morphology [Term] id: HP:0006369 name: Irregular patellae alt_id: HP:0006458 def: "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular patellar contour" EXACT [] synonym: "Irregular patellar margins" EXACT [] xref: UMLS:C1836870 is_a: HP:0003045 ! Abnormal patella morphology [Term] id: HP:0006370 name: Distal ulnar epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Distal ulnar epiphyseal calcifications" EXACT [] xref: UMLS:C4021600 is_a: HP:0010600 ! Abnormal distal ulnar epiphysis morphology is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0006371 name: Broad long bone diaphyses def: "Increased width of the diaphysis of long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025053 is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0006375 name: Dumbbell-shaped femur def: "The femur is shortened and displays flaring (widening) of the metaphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Dumbbell-shaped thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025052 is_a: HP:0000947 ! Dumbbell-shaped long bone is_a: HP:0002823 ! Abnormal femur morphology [Term] id: HP:0006376 name: Limited elbow flexion xref: UMLS:C1856922 is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0006378 name: Osteolysis of patellae xref: UMLS:C4025051 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs [Term] id: HP:0006379 name: Proximal tibial hypoplasia comment: Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia' synonym: "Proximal tibial hypopolasia" EXACT [] xref: UMLS:C1856029 is_a: HP:0005736 ! Short tibia [Term] id: HP:0006380 name: Knee flexion contracture alt_id: HP:0002978 def: "A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199, PMID:31282072] subset: hposlim_core synonym: "Flexion contracture of knees" EXACT [] synonym: "Flexion contractures at both knees" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Flexion contractures of knees" EXACT [] synonym: "Flexion deformity of the knee" EXACT [] synonym: "Inability to straighten knee" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Knee flexion contractures" EXACT [] synonym: "Knee flexion deformity" EXACT [] xref: SNOMEDCT_US:202289003 xref: UMLS:C0409355 is_a: HP:0005750 ! Lower-limb joint contracture is_a: HP:0034671 ! Knee contracture [Term] id: HP:0006381 name: Rudimentary fibula alt_id: HP:0004986 def: "Absent or nearly absent fibula. (Does not include aplastic)" [] synonym: "Rudimentary to absent fibulae" EXACT [] synonym: "Small to absent calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small to absent fibula" EXACT [] xref: UMLS:C1844706 is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0006383 name: Progressive bowing of long bones def: "Progressive bending or abnormal curvature of a long bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857137 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006384 name: Club-shaped distal femur alt_id: HP:0006447 def: "An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis." [https://orcid.org/0000-0002-0736-9199] comment: previous def: 'has part' some (clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal)) synonym: "Club-shaped distal femora" EXACT [] synonym: "Club-shaped outermost end of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1857505 is_a: HP:0002823 ! Abnormal femur morphology [Term] id: HP:0006385 name: Short lower limbs alt_id: HP:0003054 def: "Shortening of the legs related to developmental hypoplasia of the bones of the leg." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Short legs" EXACT layperson [] synonym: "Short lower limbs" EXACT layperson [] xref: SNOMEDCT_US:249786007 xref: UMLS:C0426901 is_a: HP:0009816 ! Lower limb undergrowth [Term] id: HP:0006386 name: Hypoplastic distal radial epiphyses def: "Underdevelopment of the distal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1969286 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0006387 name: Wide distal femoral metaphysis def: "Increased width of the distal part of the shaft (metaphysis) of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad outermost wide portion of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide distal metaphysis of femur" EXACT [] xref: UMLS:C1849309 is_a: HP:0006417 ! Wide femoral metaphysis is_a: HP:0030299 ! Abnormal distal femoral metaphysis morphology [Term] id: HP:0006389 name: Limited knee flexion def: "Reduced ability to flex (bend) the knee joint." [] xref: UMLS:C1839512 is_a: HP:0010501 ! Limitation of knee mobility [Term] id: HP:0006390 name: Anterior tibial bowing def: "An abnormal anterior bending or curvature of the tibia." [https://orcid.org/0000-0002-0736-9199, PMID:37026038] synonym: "Anterior bowing of tibia" EXACT [] synonym: "Saber shin" EXACT [] synonym: "Saber tibia" EXACT [] synonym: "Sabre shin" EXACT [] xref: UMLS:C1861937 is_a: HP:0002982 ! Tibial bowing [Term] id: HP:0006391 name: Overtubulated long bones def: "Overconstriction, or narrowness of the diaphysis and metaphysis of long bones." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1848769 is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0006392 name: Increased density of long bones def: "An abnormal increase in the bone density of the long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased density of long bones" EXACT layperson [] xref: UMLS:C1849307 is_a: HP:0011001 ! Increased bone mineral density is_a: HP:0011314 ! Abnormal long bone morphology [Term] id: HP:0006394 name: Limited pronation/supination of forearm def: "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Limited pronation/supination of forearm" EXACT layperson [] xref: UMLS:C1861331 is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0006397 name: Lateral displacement of patellae xref: UMLS:C1860156 is_a: HP:0003045 ! Abnormal patella morphology [Term] id: HP:0006398 name: Flat distal femoral epiphysis def: "An abnormal flattening of the distal epiphysis of femur." [https://orcid.org/0009-0006-4530-3154] synonym: "Flat end part of outermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flattened distal femoral epiphyses" EXACT [] xref: UMLS:C4021599 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis is_a: HP:0030289 ! Flattened femoral epiphysis [Term] id: HP:0006400 name: Absent knee epiphyses synonym: "Absent knee end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859462 is_a: HP:0010577 ! Absent epiphyses is_a: HP:0034669 ! Abnormal knee morphology [Term] id: HP:0006402 name: Distal shortening of limbs synonym: "Short outer part of limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1840307 is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0006406 name: Club-shaped proximal femur def: "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis." [https://orcid.org/0000-0002-0736-9199] comment: previous def: 'has part' some (clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal)) synonym: "Club-shaped innermost end of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1968611 is_a: HP:0002823 ! Abnormal femur morphology [Term] id: HP:0006407 name: Irregular distal femoral epiphysis def: "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular outermost thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025050 is_a: HP:0006361 ! Irregular femoral epiphysis is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis [Term] id: HP:0006408 name: Distal tapering femur synonym: "Tapering of outermost end of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025049 is_a: HP:0002823 ! Abnormal femur morphology [Term] id: HP:0006409 name: Progressive leg bowing def: "Progressive bending or abnormal curvature of the leg." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855191 is_a: HP:0006383 ! Progressive bowing of long bones [Term] id: HP:0006413 name: Broad tibial metaphyses synonym: "Broad wide portion of shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad wide portion of shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2678328 is_a: HP:0006491 ! Abnormal tibial metaphysis morphology [Term] id: HP:0006414 name: Distal tibial bowing def: "A bending or abnormal curvature of the distal portion of the tibia." [https://orcid.org/0000-0002-0736-9199] synonym: "Bowing of the distal tibia" EXACT [] synonym: "Tibial bowing at ankle" EXACT [] xref: UMLS:C4021598 is_a: HP:0002982 ! Tibial bowing is_a: HP:0034673 ! Abnormal ankle morphology [Term] id: HP:0006415 name: Cortically dense long tubular bones def: "Increased density of the compact bone of long bone." [https://orcid.org/0000-0002-0736-9199] comment: Note that compact bone and cortical bone are synonymous. xref: UMLS:C1849276 is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0006417 name: Wide femoral metaphysis synonym: "Broad femoral metaphyses" EXACT plural_form [] synonym: "Broad femoral metaphysis" EXACT [] synonym: "Broad wide portion of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1864854 is_a: HP:0006489 ! Abnormal femoral metaphysis morphology [Term] id: HP:0006420 name: Asymmetric radial dysplasia def: "The presence of asymmetric developmental dysplasia of the radius." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1969396 is_a: HP:0006433 ! Radial dysplasia [Term] id: HP:0006423 name: Peg-like central prominence of distal tibial metaphyses xref: UMLS:C1846160 is_a: HP:0006491 ! Abnormal tibial metaphysis morphology [Term] id: HP:0006424 name: Elongated radius def: "Increased length of the radius." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025048 is_a: HP:0002818 ! Abnormal morphology of the radius [Term] id: HP:0006426 name: Rudimentary to absent tibiae xref: UMLS:C1968943 is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0006429 name: Broad femoral neck alt_id: HP:0003369 alt_id: HP:0003372 alt_id: HP:0008781 alt_id: HP:0008782 alt_id: HP:0008836 def: "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [https://orcid.org/0000-0002-0736-9199] synonym: "Broadening of femoral neck" EXACT [] synonym: "Wide femoral neck" EXACT [] synonym: "Wide neck of thigh bone" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Widened femoral necks" EXACT [] xref: UMLS:C1849016 is_a: HP:0003367 ! Abnormal femoral neck morphology [Term] id: HP:0006431 name: Abnormal proximal femoral metaphysis morphology def: "An anomaly of the metaphysis of the proximal femur (close to the hip)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal wide portion of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Proximal femoral metaphyseal abnormality" EXACT [] xref: UMLS:C4025047 is_a: HP:0006489 ! Abnormal femoral metaphysis morphology [Term] id: HP:0006432 name: Trapezoidal distal femoral condyles xref: UMLS:C1843983 is_a: HP:0002823 ! Abnormal femur morphology [Term] id: HP:0006433 name: Radial dysplasia def: "Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia." [PMID:29257019] synonym: "Dysplastic radii" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Radial longitudinal deficiency" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025046 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0006434 name: Hypoplasia of proximal radius alt_id: HP:0006365 def: "Proximal radial shortening owing to a congenital defect of development." [https://orcid.org/0000-0002-0736-9199] synonym: "Proximal radial shortening" EXACT [] xref: UMLS:C1859477 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0006436 name: obsolete Shortening of the tibia is_obsolete: true replaced_by: HP:0005736 [Term] id: HP:0006437 name: Disproportionate prominence of the femoral medial condyle xref: UMLS:C1834392 is_a: HP:0002823 ! Abnormal femur morphology [Term] id: HP:0006438 name: Enlargement of the distal femoral epiphysis def: "An abnormal enlargement of the distal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlargement of the outermost thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Large distal femoral epiphyses" EXACT [] xref: UMLS:C1843105 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis [Term] id: HP:0006439 name: Radioulnar dislocation alt_id: HP:0003972 def: "A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate." [] comment: This term refers to any kind of radioulnar joint dislocation (proximal, distal, both, or unknown). synonym: "Dislocated radioulnar joints" EXACT [] xref: UMLS:C2673394 is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0006440 name: Increased density of long bone diaphyses synonym: "Increased density of shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1844516 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0006392 ! Increased density of long bones [Term] id: HP:0006441 name: Lateral humeral condyle aplasia xref: UMLS:C1833878 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0006442 name: Hypoplasia of proximal fibula def: "Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee." [PMID:880750] synonym: "Small innermost upper end of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped innermost upper end of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859478 is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0006443 name: Patellar aplasia alt_id: HP:0003046 alt_id: HP:0006475 def: "Absence of the patella." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent kneecap" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent patella" EXACT [] synonym: "Absent patellae" EXACT [] synonym: "Absent patellas" EXACT [] synonym: "Aplastic patellae" EXACT [] xref: UMLS:C1868578 is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0006446 name: Dysplastic patella xref: UMLS:C1849580 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0006449 name: Distal radial epiphyseal osteolysis xref: UMLS:C1850145 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0006450 name: Multicentric ossification of proximal femoral epiphyses xref: UMLS:C1857193 is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0006453 name: Lateral displacement of the femoral head def: "A developmental anomaly with lateral displacement of the femoral head." [https://orcid.org/0000-0002-0736-9199] synonym: "Laterally displaced femoral heads" EXACT [] xref: UMLS:C1855758 is_a: HP:0003368 ! Abnormal femoral head morphology [Term] id: HP:0006454 name: Delayed patellar ossification def: "Formation of bone in the patella later than normal." [https://orcid.org/0000-0002-0736-9199, PMID:6729496] comment: The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (PMID:6729496). synonym: "Delayed bone maturation of the knee cap" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Delayed patellae ossification" EXACT [] xref: UMLS:C4021597 xref: UMLS:C4280446 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0003336 ! Abnormal enchondral ossification [Term] id: HP:0006456 name: Irregular proximal tibial epiphyses def: "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular innermost shankbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular innermost shinbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025045 is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis [Term] id: HP:0006459 name: Dorsal subluxation of ulna def: "Partial dislocation of the ulna in the dorsal direction." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1851988 is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0006460 name: Increased laxity of ankles xref: UMLS:C1850854 is_a: HP:0034674 ! Abnormal ankle physiology [Term] id: HP:0006461 name: Proximal femoral epiphysiolysis alt_id: HP:0003000 def: "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt." [https://orcid.org/0000-0002-0736-9199] synonym: "Slipped capital femoral epiphyses" EXACT [] synonym: "Slipped capital femoral epiphysis" EXACT [] synonym: "Slipped end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0149887 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0006462 name: Generalized bone demineralization def: "A generalized decrease in bone mineral density." [https://orcid.org/0000-0002-0736-9199] comment: The terms Osteopenia or Osteoporosis should be preferred to this term, which may be obsoleted in the future. synonym: "Generalised bone demineralization" EXACT uk_spelling [] xref: UMLS:C1833326 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0006463 name: Rickets of the lower limbs xref: UMLS:C1833323 is_a: HP:0002748 ! Rickets is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0006465 name: Periosteal thickening of long tubular bones def: "Thickening of the periosteum of long bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1834345 is_a: HP:0011314 ! Abnormal long bone morphology is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0006466 name: Ankle flexion contracture alt_id: HP:0004985 alt_id: HP:0006403 xref: UMLS:C1837407 is_a: HP:0034677 ! Ankle contracture [Term] id: HP:0006467 name: Limited shoulder movement def: "A limitation of the range of movement of the shoulder joint." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Limited shoulder movement" EXACT layperson [] xref: UMLS:C1851313 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0033129 ! Abnormal shoulder physiology [Term] id: HP:0006470 name: Thin long bone diaphyses def: "Decreased width of the diaphysis of long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Thin diaphyses of long bones" EXACT [] synonym: "Thin shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859449 is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0006471 name: Fixed elbow flexion xref: UMLS:C4025044 is_a: HP:0006376 ! Limited elbow flexion [Term] id: HP:0006473 name: Anterior bowing of long bones def: "An abnormal anterior curvature of a long bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1850644 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006476 name: Abnormality of the pancreatic islet cells alt_id: HP:0100567 def: "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025043 is_a: HP:0012093 ! Abnormality of endocrine pancreas physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T04:41:00Z [Term] id: HP:0006477 name: Abnormal alveolar ridge morphology def: "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of alveolar margin" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of dentoalveolar ridges" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the alveolar ridges" BROAD [] synonym: "Defect in alveolar ridge" EXACT [] xref: SNOMEDCT_US:235013007 xref: UMLS:C0341007 xref: UMLS:C4280445 is_a: HP:0000163 ! Abnormal oral cavity morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T04:44:00Z [Term] id: HP:0006479 name: Abnormal dental pulp morphology def: "An abnormality of the dental pulp." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of the dental pulp" EXACT [] synonym: "Abnormality of tooth pulp" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Endodontic abnormality" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025042 is_a: HP:0011061 ! Abnormality of dental structure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T04:46:00Z [Term] id: HP:0006480 name: Premature loss of teeth alt_id: HP:0000701 alt_id: HP:0001564 alt_id: HP:0006343 def: "Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] subset: hposlim_core synonym: "Early tooth loss" EXACT layperson [] synonym: "Loss of teeth" EXACT layperson [] synonym: "Premature exfoliation of teeth" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Premature teeth loss" EXACT layperson [] synonym: "Premature tooth loss" EXACT layperson [] xref: SNOMEDCT_US:234974002 xref: SNOMEDCT_US:42756003 xref: UMLS:C0232513 xref: UMLS:C0399385 is_a: HP:0000164 ! Abnormality of the dentition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:03:00Z [Term] id: HP:0006481 name: Abnormality of primary teeth def: "Any abnormality of the primary tooth." [https://orcid.org/0000-0002-9338-3017] comment: Primary teeth are also called temporary teeth or deciduous teeth. synonym: "Abnormality of baby teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of deciduous teeth" EXACT [] synonym: "Abnormality of milk teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021596 is_a: HP:0000164 ! Abnormality of the dentition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:40:00Z [Term] id: HP:0006482 name: Abnormal dental morphology alt_id: HP:0000697 def: "An abnormality of the morphology of the tooth." [https://orcid.org/0000-0002-9338-3017] subset: hposlim_core synonym: "Abnormality of dental morphology" EXACT [] synonym: "Abnormality of dental shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of shape of tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally shaped teeth" EXACT layperson [] synonym: "Deformity of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dental deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dental malformations" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malformed teeth" EXACT layperson [] synonym: "Misshapen teeth" EXACT layperson [] synonym: "Misshapened teeth" EXACT layperson [] xref: SNOMEDCT_US:422775003 xref: UMLS:C0040427 xref: UMLS:C0262444 is_a: HP:0000164 ! Abnormality of the dentition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:41:00Z [Term] id: HP:0006483 name: Abnormal number of teeth def: "The presence of an altered number of of teeth." [https://orcid.org/0000-0002-9338-3017] comment: Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. synonym: "Abnormal complement of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal number of teeth" EXACT layperson [] synonym: "Abnormal tooth count" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:335443002 xref: UMLS:C1290508 is_a: HP:0000164 ! Abnormality of the dentition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:44:00Z [Term] id: HP:0006485 name: Agenesis of incisor def: "Agenesis of incisor." [https://orcid.org/0000-0002-0736-9199] comment: Failure of one or more incisors to develop. synonym: "Absence of front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of incisors" RELATED layperson [] synonym: "Failure of development of incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing incisors" RELATED layperson [] xref: UMLS:C4020815 xref: UMLS:C4020816 xref: UMLS:C4083290 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011064 ! Abnormal number of incisors property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:49:00Z [Term] id: HP:0006486 name: Abnormal dental root morphology def: "An abnormality of the dental root." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of the dental root" EXACT layperson [] synonym: "Abnormality of tooth root" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dental root anomaly" EXACT [] xref: UMLS:C4025041 is_a: HP:0006482 ! Abnormal dental morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:52:00Z [Term] id: HP:0006487 name: Bowing of the long bones alt_id: HP:0002976 alt_id: HP:0005087 alt_id: HP:0005908 alt_id: HP:0006404 alt_id: HP:0006451 alt_id: HP:0006452 def: "A bending or abnormal curvature of a long bone." [https://orcid.org/0000-0002-0736-9199] comment: Curvatures of a long bone such as femur, tibia, or fibula. synonym: "Bowed long bones" EXACT layperson [] synonym: "Bowing of long bones" EXACT layperson [] synonym: "Bowing of the long bones" EXACT layperson [] synonym: "Camptomelia" EXACT [] synonym: "Diaphyseal bowing" EXACT [] synonym: "Diaphyseal bowing of long bones" EXACT [] xref: UMLS:C1855340 is_a: HP:0000940 ! Abnormal diaphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:56:00Z [Term] id: HP:0006488 name: Bowing of the arm def: "A bending or abnormal curvature affecting a long bone of the arm." [https://orcid.org/0000-0002-0736-9199] synonym: "Bending of the arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bowing of the arm" EXACT layperson [] xref: UMLS:C0426863 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006487 ! Bowing of the long bones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T05:57:00Z [Term] id: HP:0006489 name: Abnormal femoral metaphysis morphology def: "An anomaly of the femoral metaphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the femoral metaphysis" EXACT [] synonym: "Abnormality of the wide portion of the femoral bone" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025040 xref: UMLS:C4280444 is_a: HP:0002823 ! Abnormal femur morphology is_a: HP:0006490 ! Abnormal lower-limb metaphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006490 name: Abnormal lower-limb metaphysis morphology synonym: "Abnormality of lower-limb metaphyses" EXACT [] synonym: "Abnormality of the wide portion of the lower-limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025039 is_a: HP:0000944 ! Abnormal metaphysis morphology is_a: HP:0002814 ! Abnormality of the lower limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006491 name: Abnormal tibial metaphysis morphology synonym: "Abnormality of the tibial metaphysis" EXACT [] synonym: "Abnormality of the wide portion of shankbone" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the wide portion of shinbone" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025038 is_a: HP:0002992 ! Abnormal tibia morphology is_a: HP:0006490 ! Abnormal lower-limb metaphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:03:00Z [Term] id: HP:0006492 name: Aplasia/Hypoplasia of the fibula alt_id: HP:0005672 alt_id: HP:0006421 def: "Absence or underdevelopment of the fibula." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fibular aplasia/hypoplasia" EXACT [] synonym: "Hypoplastic/aplastic fibulae" EXACT [] xref: UMLS:C1856732 is_a: HP:0002991 ! Abnormal fibula morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:03:00Z [Term] id: HP:0006493 name: Aplasia/hypoplasia involving bones of the lower limbs def: "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small lower limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped lower limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025037 is_a: HP:0040069 ! Abnormal lower limb bone morphology is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:04:00Z [Term] id: HP:0006494 name: Aplasia/Hypoplasia involving bones of the feet synonym: "Absent/small foot bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped foot bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025036 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:08:00Z [Term] id: HP:0006495 name: Aplasia/Hypoplasia of the ulna alt_id: HP:0005097 alt_id: HP:0006372 alt_id: HP:0006410 def: "Absence or underdevelopment of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence/underdevelopment of inner forearm bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Absent-hypoplastic ulnae" EXACT [] synonym: "Absent/small ulna" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplasia or unilateral/bilateral absence of ulna" EXACT [] synonym: "Ulnar hypoplasia/aplasia" EXACT [] xref: UMLS:C1865571 is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones is_a: HP:0040071 ! Abnormal morphology of ulna property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:15:00Z [Term] id: HP:0006496 name: Aplasia/hypoplasia involving bones of the upper limbs def: "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small bones of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped bones of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025035 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:16:00Z [Term] id: HP:0006498 name: Aplasia/Hypoplasia of the patella alt_id: HP:0005006 alt_id: HP:0005027 alt_id: HP:0005702 alt_id: HP:0005729 alt_id: HP:0006374 def: "Absence or underdevelopment of the patella." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent or hypoplastic patellae" EXACT [] synonym: "Absent/hypoplastic patella" EXACT [] synonym: "Absent/small kneecap" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped kneecap" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic or hypoplastic patellae" EXACT [] synonym: "Hypoplastic or absent patella" EXACT [] synonym: "Patellar aplasia/hypoplasia" EXACT [] synonym: "Small to absent patellae" EXACT [] xref: UMLS:C1868577 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:25:00Z [Term] id: HP:0006499 name: Abnormal femoral epiphysis morphology alt_id: HP:0006412 alt_id: HP:0008811 def: "An anomaly of a growth plate of a femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of femoral epiphysis" EXACT [] synonym: "Abnormality of thighbone end part" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025034 is_a: HP:0002823 ! Abnormal femur morphology is_a: HP:0006500 ! Abnormal lower limb epiphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:28:00Z [Term] id: HP:0006500 name: Abnormal lower limb epiphysis morphology def: "An anomaly of one or more epiphyses of one or both legs." [] synonym: "Abnormal shape of end part of lower limb end bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the lower limbs" EXACT [] synonym: "Abnormality of lower limb epiphysis morphology" EXACT [] xref: UMLS:C4021595 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0006505 ! Abnormal limb epiphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:31:00Z [Term] id: HP:0006501 name: Aplasia/Hypoplasia of the radius alt_id: HP:0005718 def: "A small/hypoplastic or absent/aplastic radius." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence or underdevelopment of the radius bone of the arm" EXACT [] synonym: "Absent/small radius" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped radius" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Radial aplasia/hypoplasia" EXACT [] xref: UMLS:C2749463 is_a: HP:0002818 ! Abnormal morphology of the radius is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:32:00Z [Term] id: HP:0006502 name: Aplasia/Hypoplasia involving the carpal bones def: "Absence or underdevelopment of the carpal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025033 is_a: HP:0001191 ! Abnormal carpal morphology is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:35:00Z [Term] id: HP:0006503 name: Aplasia/hypoplasia involving forearm bones def: "Absence (due to failure to form) or underdevelopment of one or more forearm bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small forearm bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped forearm bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025032 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0040072 ! Abnormal forearm bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:45:00Z [Term] id: HP:0006504 name: obsolete Anomaly of the limb diaphyses morphology synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0000940 creation_date: 2008-03-28T06:47:00Z [Term] id: HP:0006505 name: Abnormal limb epiphysis morphology def: "An anomaly of one or more epiphyses of a limb." [] comment: An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. synonym: "Abnormal shape of end part of limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the limbs" EXACT [] synonym: "Abnormality of limb epiphysis morphology" EXACT [] xref: UMLS:C4021593 is_a: HP:0002813 ! Abnormal limb bone morphology is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-28T06:48:00Z [Term] id: HP:0006507 name: Aplasia/hypoplasia of the humerus def: "Absence (due to failure to form) or underdevelopment of the humerus." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025031 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0031095 ! Abnormal humerus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T09:15:00Z [Term] id: HP:0006508 name: Abnormality of tibial epiphyses synonym: "Abnormality of end part of shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025030 is_a: HP:0002992 ! Abnormal tibia morphology is_a: HP:0006500 ! Abnormal lower limb epiphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T09:19:00Z [Term] id: HP:0006509 name: Diverticulosis of trachea def: "Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical)." [PMID:18544671, PMID:27867581] synonym: "Paratracheal air cyst" RELATED [] synonym: "Tracheal diverticulosis" EXACT [] synonym: "Tracheal diverticulum" EXACT [http://radiopaedia.org/articles/tracheal-diverticulum, https://orcid.org/0000-0001-5208-3432] synonym: "Tracheocele" EXACT [] xref: SNOMEDCT_US:14011008 xref: UMLS:C0340213 is_a: HP:0002778 ! Abnormal tracheal morphology [Term] id: HP:0006510 name: Chronic pulmonary obstruction alt_id: HP:0006541 def: "An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities." [PMID:25943942] comment: COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases. synonym: "Chronic obstructive pulmonary disease" EXACT [] synonym: "COPD" EXACT abbreviation [] xref: SNOMEDCT_US:13645005 xref: UMLS:C0024117 is_a: HP:0006536 ! Airway obstruction [Term] id: HP:0006511 name: Laryngeal stridor def: "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat." [https://orcid.org/0000-0002-0736-9199] comment: The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids. synonym: "Laryngeal stidor" EXACT [] xref: SNOMEDCT_US:406444002 xref: SNOMEDCT_US:41432000 xref: SNOMEDCT_US:53787002 xref: UMLS:C0023066 is_a: HP:0025424 ! Abnormal larynx physiology [Term] id: HP:0006514 name: Intraalveolar nodular calcifications xref: UMLS:C4025028 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0033137 ! Abnormal pulmonary alveolar system morphology [Term] id: HP:0006515 name: Interstitial pneumonitis xref: SNOMEDCT_US:64667001 xref: UMLS:C0206061 is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology [Term] id: HP:0006516 name: Hypersensitivity pneumonitis def: "Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010)." [https://orcid.org/0000-0003-0113-912X, PMID:15316440, PMID:16635083, PMID:18051218] comment: Hypersensitivity pneumonitis may also be called many different names, based on the provoking antigen. xref: SNOMEDCT_US:37471005 xref: UMLS:C0002390 is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology [Term] id: HP:0006517 name: Intraalveolar phospholipid accumulation alt_id: HP:0032982 def: "Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis." [https://orcid.org/0000-0002-0736-9199, PMID:21900000, PMID:22891182] comment: The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perform. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). synonym: "Alveolar proteinosis" EXACT [] synonym: "Detection of PAS-positive extracellular material in broncho-alveolar lavage" EXACT [] synonym: "Pulmonary alveolar proteinosis" EXACT [] xref: SNOMEDCT_US:10501004 xref: UMLS:C0034050 is_a: HP:0032973 ! Abnormal bronchoalveolar lavage fluid morphology [Term] id: HP:0006518 name: Pulmonary venous occlusion def: "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-4546-6667, PMID:20456932, PMID:27009171] comment: This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterized by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary edema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnea, fatigue and cough. synonym: "Pulmonary venoocclusive disease" RELATED [] synonym: "Pulmonary venous stenosis" EXACT [] xref: Fyler:3002 xref: SNOMEDCT_US:89420002 xref: UMLS:C0034091 xref: UMLS:C4280802 is_a: HP:0030968 ! Abnormal pulmonary vein morphology [Term] id: HP:0006519 name: Alveolar cell carcinoma alt_id: HP:0006757 def: "Adenocarcinoma of the Bronchus." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:112677002 xref: SNOMEDCT_US:36310008 xref: SNOMEDCT_US:373627005 xref: UMLS:C0007120 is_a: HP:0100552 ! Neoplasm of the tracheobronchial system [Term] id: HP:0006520 name: Progressive pulmonary function impairment xref: UMLS:C1849570 is_a: HP:0002795 ! Abnormal respiratory system physiology [Term] id: HP:0006521 name: Pulmonary lymphangiectasia alt_id: HP:0006526 alt_id: HP:0006551 def: "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid." [https://orcid.org/0000-0002-0736-9199] synonym: "Pulmonary lymphangiectasis" EXACT [] xref: UMLS:C1855480 is_a: HP:0006529 ! Abnormal pulmonary lymphatics is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0006522 name: Repeated pneumothoraces synonym: "Repeated pneumothorax" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025027 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0006524 name: Tracheobronchial leiomyomatosis xref: UMLS:C3806786 is_a: HP:0100552 ! Neoplasm of the tracheobronchial system [Term] id: HP:0006525 name: obsolete Lung segmentation defects is_obsolete: true replaced_by: HP:0002101 [Term] id: HP:0006527 name: Lymphocytic interstitial pneumonia def: "Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa." [https://orcid.org/0000-0002-0736-9199, PMID:32040879] comment: Lymphocytic interstitial pneumonitis is assumed to be a pathological immunologic response to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. Associated clinical manifestations often include fever, cough, and shortness of breath. synonym: "Lymphocytic interstitial pneumonitis" EXACT [] synonym: "Lymphoid interstitial pneumonia" EXACT [] synonym: "Lymphoid interstitial pneumonitis" EXACT [] xref: SNOMEDCT_US:44274007 xref: UMLS:C0264511 is_a: HP:0006515 ! Interstitial pneumonitis is_a: HP:0033582 ! Pulmonary interstitial lymphocyte infiltration [Term] id: HP:0006528 name: Chronic lung disease def: "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities." [HPO_CONTRIBUTOR:IMM_tkuijpers] synonym: "Chronic lung disease" EXACT layperson [] xref: SNOMEDCT_US:413839001 xref: UMLS:C0746102 is_a: HP:0002795 ! Abnormal respiratory system physiology [Term] id: HP:0006529 name: Abnormal pulmonary lymphatics def: "An abnormality of the pulmonary lymphatic chain." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025026 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0006530 name: Abnormal pulmonary interstitial morphology alt_id: HP:0006513 alt_id: HP:0006547 def: "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal lung parenchyma morphology" EXACT [] synonym: "Abnormality in area between air sacs in lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Interstitial lung disease" EXACT [] synonym: "Interstitial pulmonary disease" EXACT [] xref: SNOMEDCT_US:233703007 xref: UMLS:C0206062 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0006531 name: Pleural lymphangiectasia xref: UMLS:C1856139 is_a: HP:0002103 ! Abnormal pleura morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0006532 name: Recurrent pneumonia alt_id: HP:0002095 alt_id: HP:0002096 def: "An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia." [https://orcid.org/0000-0002-0736-9199, PMID:15750465] comment: Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences. synonym: "Multiple pulmonary infections" EXACT [] synonym: "Pneumonia, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Pneumonia, recurrent episodes" EXACT [] synonym: "Pulmonary infection" EXACT [] synonym: "Pulmonary infections" EXACT [] synonym: "pulmonary infections, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent pneumonia" EXACT layperson [] synonym: "Recurrent pulmonary infections" EXACT [] xref: SNOMEDCT_US:128601007 xref: SNOMEDCT_US:699014000 xref: UMLS:C0694550 xref: UMLS:C0748140 xref: UMLS:C0876973 xref: UMLS:C1859117 is_a: HP:0002090 ! Pneumonia is_a: HP:0002783 ! Recurrent lower respiratory tract infections [Term] id: HP:0006533 name: Bronchodysplasia xref: UMLS:C4025025 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0006535 name: Recurrent intrapulmonary hemorrhage def: "A recurrent hemorrhage occurring within the lung." [HPO_CONTRIBUTOR:gcarletti] synonym: "Recurrent bleeding into lungs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Recurrent intrapulmonary haemorrhage" EXACT uk_spelling [] synonym: "Recurrent pulmonary haemorrhage" EXACT uk_spelling [] synonym: "Recurrent pulmonary hemorrhage" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C3805919 is_a: HP:0040223 ! Pulmonary hemorrhage [Term] id: HP:0006536 name: Airway obstruction alt_id: HP:0006512 def: "Obstruction of conducting airways of the lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Obstructive lung disease" EXACT layperson [] synonym: "Pulmonary obstruction" EXACT [] xref: UMLS:C0600260 is_a: HP:0002795 ! Abnormal respiratory system physiology [Term] id: HP:0006538 name: Recurrent bronchopulmonary infections def: "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent bronchopneumonia" EXACT [] synonym: "Recurrent infections in bronchi and lungs" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2169795 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0006539 name: Bronchial cartilage hypoplasia synonym: "Underdevelopment of the bronical cartilage" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025024 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0006541 name: obsolete Chronic obstructive airway disease from birth is_obsolete: true replaced_by: HP:0006510 [Term] id: HP:0006543 name: Cardiorespiratory arrest xref: SNOMEDCT_US:410430005 xref: UMLS:C0600228 is_a: HP:0005943 ! Respiratory arrest [Term] id: HP:0006544 name: Extrapulmonary lobar sequestration def: "A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree." [https://orcid.org/0000-0002-0736-9199, PMID:20610189] comment: Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure. Extrapulmonary sequestra nearly all appear on the left side. synonym: "Diaphragmatic sequestrum" RELATED [] synonym: "Extralobar sequestration" EXACT [] synonym: "Extrapulmonary sequestrum" EXACT [] xref: UMLS:C4020814 xref: UMLS:C4025023 is_a: HP:0100632 ! Pulmonary sequestration [Term] id: HP:0006548 name: Pulmonary arteriovenous malformation alt_id: HP:0002114 alt_id: HP:0006537 def: "Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins." [PMID:30386957, PMID:788535] synonym: "Pulmonary AV malformation" EXACT [] xref: Fyler:2210 xref: UMLS:C1857690 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0006549 name: Unilateral primary pulmonary dysgenesis synonym: "Primary pulmonary dysgenesis, unilateral" EXACT [] xref: UMLS:C4021592 is_a: HP:4000059 ! Abnormal lung development [Term] id: HP:0006552 name: Fibrocystic lung disease xref: UMLS:C1397290 is_a: HP:0005948 ! Multiple pulmonary cysts [Term] id: HP:0006554 name: Acute hepatic failure alt_id: HP:0006556 def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute liver failure" EXACT layperson [] xref: SNOMEDCT_US:197270009 xref: SNOMEDCT_US:235884008 xref: UMLS:C0162557 is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006555 name: Diffuse hepatic steatosis def: "A diffuse form of hepatic steatosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Hepatic steatosis, diffuse" EXACT [] xref: UMLS:C1849686 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0006557 name: Polycystic liver disease xref: SNOMEDCT_US:72925005 xref: UMLS:C0158683 is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0006558 name: Decreased mitochondrial complex III activity in liver tissue def: "Decreased activity of complex III of the mitochondrion in the liver." [https://orcid.org/0000-0002-0736-9199] comment: Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane. xref: UMLS:C4025022 is_a: HP:0025155 ! Abnormal hepatobiliary system physiology [Term] id: HP:0006559 name: Hepatic calcification def: "The presence of abnormal calcium deposition in the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Liver calcifications" EXACT [] xref: UMLS:C1696466 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0006560 name: Biliary hyperplasia def: "Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia." [https://orcid.org/0000-0002-0736-9199] synonym: "Bile duct hyperplasia" EXACT [] xref: UMLS:C3672440 xref: UMLS:C3686778 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0006561 name: Lipid accumulation in hepatocytes xref: UMLS:C1837257 is_a: HP:0031137 ! Storage in hepatocytes [Term] id: HP:0006562 name: Viral hepatitis def: "Inflammation of the liver due to infection with a virus." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:3738000 xref: UMLS:C0042721 is_a: HP:0012115 ! Hepatitis [Term] id: HP:0006563 name: Malformation of the hepatic ductal plate xref: UMLS:C1857519 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006564 name: Fluctuating hepatomegaly def: "Intermittently increased size of the liver." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1835881 is_a: HP:0002240 ! Hepatomegaly [Term] id: HP:0006565 name: Increased hepatocellular lipid droplets def: "An abnormal increase in the amount of intracellular lipid droplets in hepatocytes." [https://orcid.org/0000-0002-0736-9199] comment: Lipid droplets, rich in triglycerides and cholesterol esters, are cellular lipid storage organelles. xref: UMLS:C4025021 is_a: HP:0006561 ! Lipid accumulation in hepatocytes [Term] id: HP:0006566 name: Neonatal cholestatic liver disease xref: UMLS:C1859162 is_a: HP:0002611 ! Cholestatic liver disease [Term] id: HP:0006568 name: Increased hepatic glycogen content def: "An increase in the amount of glycogen stored in hepatocytes compared to normal." [https://orcid.org/0000-0002-0736-9199] comment: Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity. synonym: "Increased liver glycogen content" EXACT [] xref: UMLS:C1856285 is_a: HP:0500030 ! Abnormal hepatic glycogen storage [Term] id: HP:0006571 name: Reduced number of intrahepatic bile ducts def: "The presence of reduced numbers of intrahepatic bile duct than normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Hepatic ductopenia" EXACT [] synonym: "Intrahepatic duct deficiency" RELATED [] xref: UMLS:C1861621 xref: UMLS:C4021591 is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology [Term] id: HP:0006572 name: Subacute progressive viral hepatitis xref: UMLS:C1861901 is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0006573 name: Acute hepatic steatosis def: "An acute form of hepatic steatosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute fatty liver" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025020 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0006574 name: Hepatic arteriovenous malformation alt_id: HP:0006569 synonym: "Liver arteriovenous malformation" EXACT [] xref: SNOMEDCT_US:84150000 xref: UMLS:C0520557 is_a: HP:0006707 ! Abnormality of the hepatic vasculature is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0006575 name: Intrahepatic cholestasis with episodic jaundice xref: UMLS:C4025019 is_a: HP:0001406 ! Intrahepatic cholestasis [Term] id: HP:0006576 name: Hepatic vascular malformations synonym: "Liver vascular malformations" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1861790 is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0006577 name: Macronodular cirrhosis def: "A type of cirrhosis characterized by the presence of large regenerative nodules." [https://orcid.org/0000-0002-0736-9199] comment: In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm. xref: SNOMEDCT_US:43904005 xref: SNOMEDCT_US:86454000 xref: UMLS:C2004456 is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0006579 name: Prolonged neonatal jaundice alt_id: HP:0000986 def: "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants." [https://orcid.org/0000-0002-0736-9199] synonym: "Jaundice, neonatal" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Neonatal jaundice" EXACT [] synonym: "Prolonged yellowing of skin in newborn" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:387712008 xref: UMLS:C0022353 xref: UMLS:C1859236 is_a: HP:0000952 ! Jaundice [Term] id: HP:0006580 name: Portal fibrosis def: "Fibroblast proliferation and fiber expansion from the portal areas to the lobule." [https://orcid.org/0000-0002-0736-9199] comment: Portal fibrosis can be seen in viral hepatitis and other types of liver disease. synonym: "Portal fibrosis shown on biopsy" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2677002 xref: UMLS:C3805083 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006581 name: Depletion of mitochondrial DNA in liver def: "An abnormal reduction in the number of mitochondria in hepatocytes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025018 is_a: HP:0030059 ! Mitochondrial depletion is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0006582 name: Reye syndrome-like episodes def: "Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure." [] comment: This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810]. xref: UMLS:C1850413 is_a: HP:0006846 ! Acute encephalopathy is_a: HP:0025155 ! Abnormal hepatobiliary system physiology [Term] id: HP:0006583 name: Fatal liver failure in infancy synonym: "Fatal liver failure in infancy" EXACT layperson [] xref: UMLS:C4025017 is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006584 name: Small abnormally formed scapulae alt_id: HP:0006629 synonym: "Small abnormally formed scapula" EXACT [] synonym: "Small abnormally formed shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861226 is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006585 name: Congenital pseudoarthrosis of the clavicle alt_id: HP:0006612 alt_id: HP:0006661 def: "The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle." [https://orcid.org/0000-0002-0736-9199, PMID:22295044] comment: In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See PMID:22295044, Figure 1, for the radiographic appearance of this feature. synonym: "Bipartite clavicle" RELATED [] synonym: "Clavicle pseudoarthrosis" EXACT [] synonym: "Pseudoarthrosis of clavicle" EXACT [] xref: SNOMEDCT_US:249685004 xref: SNOMEDCT_US:249690001 xref: UMLS:C0426806 xref: UMLS:C0426811 is_a: HP:0005864 ! Pseudoarthrosis is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006587 name: Straight clavicles def: "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved ." [https://orcid.org/0000-0002-0736-9199] synonym: "Straight collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025016 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0006589 name: Flaring of lower rib cage synonym: "Flaring of lower rib cage" EXACT layperson [] xref: UMLS:C1855196 is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006590 name: Premature sternal synostosis def: "Prematurely closed sternal sutures." [https://orcid.org/0000-0002-0736-9199, PMID:13542801] synonym: "Prematurely closed sternal sutures" EXACT [] xref: UMLS:C4021590 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006591 name: Absent glenoid fossa def: "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199] synonym: "Aplasia of the glenoid fossa" EXACT [] xref: UMLS:C4021589 is_a: HP:0011912 ! Abnormality of the glenoid fossa [Term] id: HP:0006593 name: Anomalous rib insertion to vertebrae xref: UMLS:C1861704 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0006595 name: Scapulohumeral synostosis alt_id: HP:0010792 def: "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Fusion of shoulder blade to long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Humero-scapulo synostosis" EXACT [] synonym: "Humeroscapular synostosis" EXACT [] synonym: "Synostosis of shoulder joint" EXACT [] xref: UMLS:C1865362 is_a: HP:0000782 ! Abnormal scapula morphology is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003043 ! Abnormal shoulder morphology is_a: HP:0031095 ! Abnormal humerus morphology is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0006596 name: Restricted chest movement synonym: "Restricted chest movement" EXACT layperson [] xref: UMLS:C4025015 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0006597 name: Diaphragmatic paralysis def: "The presence of a paralyzed diaphragm." [https://orcid.org/0000-0002-0736-9199, PMID:3612666] comment: Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue. synonym: "Diaphragmatic paralysis" EXACT layperson [] synonym: "Paralysed diaphragm" EXACT uk_spelling [] synonym: "Paralyzed diaphragm" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:64228003 xref: UMLS:C0035232 is_a: HP:0003470 ! Paralysis is_a: HP:0009113 ! Diaphragmatic weakness [Term] id: HP:0006598 name: Irregular ossification at anterior rib ends xref: UMLS:C1850083 is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006599 name: Medial widening of clavicles xref: UMLS:C1866729 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0006600 name: Progressive calcification of costochondral cartilage xref: UMLS:C1968577 is_a: HP:0000919 ! Abnormality of the costochondral junction is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0006603 name: Flared, irregular rib ends synonym: "Flared, irregular rib ends" EXACT layperson [] xref: UMLS:C1865833 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0006606 name: Irregular chondrocostal junctions alt_id: HP:0006658 def: "Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [https://orcid.org/0000-0002-0736-9199] comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. synonym: "Irregular costochondral margins" EXACT [] xref: UMLS:C1861199 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0006607 name: Precocious costochondral ossification def: "Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage." [https://orcid.org/0000-0002-0736-9199, PMID:10489169] comment: The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients. xref: UMLS:C1849049 is_a: HP:0000919 ! Abnormality of the costochondral junction is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006608 name: Midclavicular hypoplasia def: "Underdevelopment of the middle portion of the clavicle." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped middle portion of the collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1844530 is_a: HP:0000894 ! Short clavicles [Term] id: HP:0006610 name: Wide intermamillary distance alt_id: HP:0000779 alt_id: HP:0001554 def: "A larger than usual distance between the left and right nipple." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Wide-spaced nipples" EXACT layperson [] synonym: "Widely spaced nipples" EXACT layperson [] synonym: "Widely-spaced nipples" EXACT layperson [] xref: SNOMEDCT_US:423230008 xref: UMLS:C1827524 is_a: HP:0040157 ! Abnormal intermamillary distance [Term] id: HP:0006611 name: Decreased number of sternal ossification centers def: "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms." [https://orcid.org/0000-0002-0736-9199, PMID:10204210] synonym: "Decreased number of sternal ossification centres" EXACT uk_spelling [] xref: UMLS:C1856223 is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006615 name: Absent in utero rib ossification def: "Lack of formation and mineralization of the ribs in utero." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent rib calcification in utero" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1842695 is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006619 name: Anterior rib punctate calcifications def: "Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859120 is_a: HP:0012306 ! Abnormal rib ossification is_a: HP:0040059 ! Calcification of ribs [Term] id: HP:0006623 name: Costochondral joint sclerosis def: "Abnormal increase in density of the tissue at the costochondral junctions." [https://orcid.org/0000-0002-0736-9199] synonym: "Sclerotic costochondral joints" EXACT [] xref: UMLS:C4021588 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0006625 name: Multifocal breast carcinoma def: "Breast carcinoma that is bilateral or otherwise multifocal." [https://orcid.org/0000-0002-0736-9199] synonym: "Multifocal breast cancer" EXACT [] xref: UMLS:C2986662 is_a: HP:0003002 ! Breast carcinoma [Term] id: HP:0006628 name: Absent sternal ossification alt_id: HP:0006654 alt_id: HP:0006666 def: "Lack of formation of mineralized bony tissue of the sternum." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent bone maturation in sternum" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent sternal mineralization" EXACT [] synonym: "Lack of sternal ossification" EXACT [] xref: UMLS:C1857074 xref: UMLS:C4280443 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006631 name: Hypoplastic distal segments of scapulae synonym: "Small distal segments of the shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small outermost segments of shoulder blade" BROAD [] synonym: "Underdeveloped outermost segments of shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025014 is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006633 name: Glenoid fossa hypoplasia alt_id: HP:0006632 def: "Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Glenoid hypoplasia" EXACT [] synonym: "Hypoplastic glenoid fossa" EXACT [] xref: UMLS:C1834384 is_a: HP:0011912 ! Abnormality of the glenoid fossa [Term] id: HP:0006634 name: Osteosclerosis of ribs def: "Osteosclerosis of ribs (increased density related to increased bone mass)." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density in ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025013 is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006637 name: Sternal punctate calcifications xref: UMLS:C1859121 is_a: HP:0000766 ! Abnormal sternum morphology is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0006638 name: Midclavicular aplasia def: "Developmental defect resulting in congenital absence of the middle portion of the clavicle." [https://orcid.org/0000-0002-0736-9199] synonym: "Missing middle part of collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1844529 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006640 name: Multiple rib fractures alt_id: HP:0000923 def: "More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple rib fractures" EXACT layperson [] xref: SNOMEDCT_US:1261007 xref: UMLS:C0272567 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0006641 name: Prominent floating ribs synonym: "Prominent floating ribs" EXACT layperson [] xref: UMLS:C4025012 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0006642 name: Large sternal ossification centers synonym: "Large sternal ossification centres" EXACT uk_spelling [] xref: UMLS:C1865241 is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006643 name: Fused sternal ossification centers synonym: "Fused sternal ossification centres" EXACT uk_spelling [] xref: UMLS:C1859376 is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006644 name: Thoracic dysplasia xref: UMLS:C1406921 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0006645 name: Thin clavicles def: "Abnormally reduced diameter (cross section) of the clavicles." [https://orcid.org/0000-0002-0736-9199] synonym: "Thin collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:298764003 xref: UMLS:C0575535 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0006646 name: Costal cartilage calcification alt_id: HP:0006662 def: "Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax." [https://orcid.org/0000-0002-0736-9199] synonym: "Cartilaginous ossification of rib" EXACT [] xref: UMLS:C1855608 is_a: HP:0012306 ! Abnormal rib ossification is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0006647 name: Congenital microthorax xref: UMLS:C4025011 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0006649 name: Costochondral pain def: "Chest wall pain in the area of the costochondral junctions." [https://orcid.org/0000-0002-0736-9199] comment: Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis. synonym: "Costochondral junction pain" EXACT [] xref: UMLS:C4021587 is_a: HP:0000919 ! Abnormality of the costochondral junction is_a: HP:0012531 ! Pain [Term] id: HP:0006650 name: Thickening of the lateral border of the scapula synonym: "Thickening of the lateral border of the shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834383 is_a: HP:0000782 ! Abnormal scapula morphology [Term] id: HP:0006655 name: Rib segmentation abnormalities xref: UMLS:C1968999 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0006657 name: Hypoplasia of first ribs alt_id: HP:0006614 alt_id: HP:0006653 synonym: "Hypoplastic first rib" EXACT [] synonym: "Hypoplastic first ribs" EXACT [] synonym: "Small first rib" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped first rib" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834386 is_a: HP:0000773 ! Short ribs [Term] id: HP:0006659 name: Internally rotated shoulders synonym: "Internally rotated shoulders" EXACT layperson [] xref: UMLS:C1862491 is_a: HP:0003043 ! Abnormal shoulder morphology [Term] id: HP:0006660 name: Aplastic clavicle def: "Absence of the clavicles as a developmental defect." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent clavicles" EXACT [] synonym: "Absent collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic clavicles" EXACT plural_form [] xref: UMLS:C1857665 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006665 name: Coat hanger sign of ribs def: "An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger)." [https://orcid.org/0000-0002-0736-9199, PMID:12712270, PMID:21607596] comment: The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14. synonym: "Coat hanger sign of ribs" EXACT layperson [] xref: UMLS:C4025010 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0006668 name: Twelfth rib hypoplasia synonym: "Small twelfth rib" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped twelfth rib" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859361 is_a: HP:0000773 ! Short ribs [Term] id: HP:0006670 name: Impaired myocardial contractility xref: UMLS:C4025009 is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0006671 name: Paroxysmal atrial tachycardia xref: SNOMEDCT_US:195069001 xref: UMLS:C0030587 is_a: HP:0004763 ! Paroxysmal supraventricular tachycardia [Term] id: HP:0006673 name: Reduced systolic function xref: UMLS:C4025008 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0006677 name: Prolonged QRS complex def: "Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec." [https://orcid.org/0000-0002-0736-9199] synonym: "Intraventricular conduction delay" EXACT [] synonym: "Prolonged QRS complex on EKG" EXACT [] synonym: "QRS widening" EXACT [] xref: SNOMEDCT_US:991002 xref: UMLS:C0235475 is_a: HP:0025074 ! Abnormal QRS complex [Term] id: HP:0006679 name: Granulomatous coronary arteritis def: "Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells." [https://orcid.org/0000-0002-0736-9199, PMID:937513] comment: A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). xref: UMLS:C4025007 is_a: HP:0006704 ! Abnormal coronary artery morphology is_a: HP:0012089 ! Arteritis [Term] id: HP:0006681 name: Absent atrioventricular node xref: UMLS:C4025006 is_a: HP:0001678 ! Atrioventricular block [Term] id: HP:0006682 name: Premature ventricular contraction alt_id: HP:0006678 alt_id: HP:0034041 def: "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [https://orcid.org/0000-0002-0736-9199, PMID:30422584, PMID:32063472, PMID:32528299] comment: A premature ventricular contraction (PVC) may be perceived as a skipped beat or as palpitations. Although they may cause symptoms such as palpitations or dizziness, incidental PVCs are generally considered benign. Highly frequent PVCs, however, can have detrimental effects on the left ventricular function over time and may cause or worsen heart failure. During a PVC, the heartbeat is initiated by the Purkinje fibers rather than the SA node. Given that a PVC occurs before a regular heartbeat, there is a pause before the next regular heartbeat. PVCs can occur in isolation or in repeated patterns. Two consecutive PVCs are termed doublets while three consecutive PVCs are named triplets. It is important to note that three or more consecutive PVCs are classified as ventricular tachycardia. synonym: "Extra heart beat" EXACT layperson [] synonym: "Missed heartbeat" RELATED layperson [] synonym: "Premature ventricular beat" EXACT [] synonym: "Premature ventricular contractions" EXACT plural_form [] synonym: "Skipped heartbeat" RELATED layperson [] synonym: "Ventricular ectopics" EXACT [] synonym: "Ventricular extrasystoles" EXACT plural_form [] synonym: "Ventricular premature beat" EXACT [] xref: SNOMEDCT_US:17338001 xref: SNOMEDCT_US:251175005 xref: UMLS:C0151636 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0006683 name: Abnormal ventricular filling def: "An abnormality of filling of a ventricle with blood during diastole." [https://orcid.org/0000-0002-0736-9199] comment: Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling. xref: UMLS:C4025005 is_a: HP:0030872 ! Abnormal cardiac ventricular function [Term] id: HP:0006684 name: Ventricular preexcitation with multiple accessory pathways def: "A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025004 is_a: HP:0004309 ! Ventricular preexcitation [Term] id: HP:0006685 name: Endocardial fibrosis alt_id: HP:0005169 def: "The presence of excessive connective tissue in the endocardium." [https://orcid.org/0000-0002-0736-9199, PMID:29043203] synonym: "Endomyocardial fibrosis" EXACT [] xref: SNOMEDCT_US:398716006 xref: UMLS:C0553980 is_a: HP:0004306 ! Abnormal endocardium morphology [Term] id: HP:0006687 name: Aortic tortuosity def: "Abnormal tortuous (i.e., twisted) form of the aorta." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025003 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0006688 name: Paroxysmal tachycardia xref: SNOMEDCT_US:12026006 xref: UMLS:C0039236 is_a: HP:0001649 ! Tachycardia [Term] id: HP:0006689 name: Bacterial endocarditis def: "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves." [https://orcid.org/0009-0006-4530-3154] synonym: "Infective endocarditis" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:301183007 xref: UMLS:C0014121 is_a: HP:0100584 ! Endocarditis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-12-27T02:57:48Z [Term] id: HP:0006690 name: Myocardial calcification def: "Calcium deposition in the myocardium." [https://orcid.org/0000-0002-0736-9199] comment: Calcification affecting the muscle layer of the heart. synonym: "Calcified myocardium" EXACT [] xref: Fyler:1889 xref: UMLS:C1096561 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology is_a: HP:0011915 ! Cardiovascular calcification [Term] id: HP:0006691 name: Pulmonic valve myxoma def: "A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve." [PMID:35420369] xref: UMLS:C4025002 is_a: HP:0001641 ! Abnormal pulmonary valve morphology [Term] id: HP:0006692 name: Short chordae tendineae of the tricuspid valve def: "Abnormally short chordae tendineae of the tricuspid valve." [https://orcid.org/0000-0002-0736-9199] comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve. xref: UMLS:C4025001 is_a: HP:0031442 ! Abnormal tricuspid chordae tendinae morphology [Term] id: HP:0006693 name: Myocardial steatosis def: "Steatosis in the myocardium." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025000 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0006694 name: Early progressive calcific cardiac valvular disease xref: UMLS:C4024999 is_a: HP:0005146 ! Cardiac valve calcification [Term] id: HP:0006695 name: Atrioventricular canal defect alt_id: HP:0005139 alt_id: HP:0005298 alt_id: HP:0010439 def: "A defect of the atrioventricular septum of the heart." [https://orcid.org/0000-0002-0736-9199, PMID:12632326] comment: During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. synonym: "Atrioventricular septal defect" EXACT [] synonym: "Endocardial cushion defect" EXACT [] synonym: "Hole in center of heart" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hole in centre of heart" BROAD uk_spelling [] xref: Fyler:0606 xref: Fyler:1100 xref: Fyler:606 xref: SNOMEDCT_US:15459006 xref: UMLS:C0014116 xref: UMLS:C1389016 is_a: HP:0001671 ! Abnormal cardiac septum morphology [Term] id: HP:0006696 name: Polymorphic and polytopic ventricular extrasystoles xref: UMLS:C4024998 is_a: HP:0006682 ! Premature ventricular contraction [Term] id: HP:0006698 name: Dilatation of the ventricular cavity def: "A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole." [https://orcid.org/0000-0002-0736-9199] comment: Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography. synonym: "Ventricular aneurysm" NARROW [] xref: SNOMEDCT_US:90539001 xref: UMLS:C0392464 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology is_a: HP:0002617 ! Vascular dilatation [Term] id: HP:0006699 name: Premature atrial contractions def: "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites." [] synonym: "Atrial ectopic beats" EXACT [] synonym: "Atrial premature complex" EXACT [] synonym: "Ectopic supraventricular rhythms" EXACT [] synonym: "PACs" EXACT abbreviation [] synonym: "Premature supraventricular beats" EXACT [] xref: SNOMEDCT_US:284470004 xref: SNOMEDCT_US:287057009 xref: SNOMEDCT_US:406461004 xref: SNOMEDCT_US:63593006 xref: UMLS:C0033036 is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0006702 name: Coronary artery dissection def: "Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery." [https://orcid.org/0000-0002-0736-9199, PMID:20448134] xref: UMLS:C1852540 is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0006703 name: Aplasia/Hypoplasia of the lungs synonym: "Absent/small lungs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped lungs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024996 is_a: HP:4000059 ! Abnormal lung development property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:17:00Z [Term] id: HP:0006704 name: Abnormal coronary artery morphology def: "Any structural abnormality of the coronary arteries." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:3100 xref: SNOMEDCT_US:28574005 xref: UMLS:C0158623 is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:33:00Z [Term] id: HP:0006705 name: Abnormal atrioventricular valve morphology alt_id: HP:0006675 def: "An abnormality of an atrioventricular valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the atrioventricular valves" EXACT [] xref: UMLS:C4024995 is_a: HP:0001654 ! Abnormal heart valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:34:00Z [Term] id: HP:0006706 name: Cystic liver disease xref: SNOMEDCT_US:72925005 xref: UMLS:C0158683 is_a: HP:0410042 ! Abnormal liver morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:37:00Z [Term] id: HP:0006707 name: Abnormality of the hepatic vasculature def: "An abnormality of the hepatic vasculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of liver blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the liver vasculature" EXACT [] xref: UMLS:C4024994 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0410042 ! Abnormal liver morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:41:00Z [Term] id: HP:0006709 name: Aplasia/Hypoplasia of the nipples alt_id: HP:0006602 alt_id: HP:0006669 synonym: "Absent/rudimentary nipples" EXACT [] synonym: "Absent/small nipples" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped nipples" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Nipples absent or rudimentary" EXACT [] xref: UMLS:C3150086 is_a: HP:0004404 ! Abnormal nipple morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:51:00Z [Term] id: HP:0006710 name: Aplasia/Hypoplasia of the clavicles def: "Absence or underdevelopment of the clavicles (collar bones)." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024993 is_a: HP:0000889 ! Abnormal clavicle morphology is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006711 name: Aplasia/Hypoplasia involving bones of the thorax synonym: "Absent/small outermost thorax bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thorax bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024992 is_a: HP:0000765 ! Abnormal thorax morphology is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006712 name: Aplasia/Hypoplasia of the ribs alt_id: HP:0006636 synonym: "Absent/small ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic or missing ribs" EXACT [] xref: UMLS:C1847363 is_a: HP:0000772 ! Abnormal rib morphology is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:54:00Z [Term] id: HP:0006713 name: Aplasia/Hypoplasia of the scapulae synonym: "Absent/small shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024991 is_a: HP:0000782 ! Abnormal scapula morphology is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T03:58:00Z [Term] id: HP:0006714 name: Aplasia/Hypoplasia of the sternum synonym: "Absent/small sternum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped sternum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024990 is_a: HP:0000766 ! Abnormal sternum morphology is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-29T04:01:00Z [Term] id: HP:0006715 name: Glomus tympanicum paraganglioma alt_id: HP:0002892 synonym: "Tympanic nerve tumor" EXACT [] synonym: "Tympanic nerve tumors" EXACT [] synonym: "Tympanic nerve tumour" EXACT uk_spelling [] synonym: "Tympanic nerve tumours" EXACT uk_spelling [] xref: UMLS:C1866555 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0006716 name: Hereditary nonpolyposis colorectal carcinoma xref: UMLS:C4024989 is_a: HP:0002672 ! Gastrointestinal carcinoma is_a: HP:0100834 ! Neoplasm of the large intestine [Term] id: HP:0006717 name: Peripheral neuroepithelioma xref: SNOMEDCT_US:254764001 xref: UMLS:C3489398 is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0006719 name: Benign gastrointestinal tract tumors synonym: "Benign gastrointestinal tract tumours" EXACT uk_spelling [] synonym: "Benign GI tract tumors" EXACT abbreviation [] synonym: "Benign GI tract tumours" EXACT uk_spelling [] synonym: "Non-cancerous GI tumors" EXACT layperson [https://orcid.org/0000-0001-9114-8737] synonym: "Non-cancerous GI tumours" EXACT uk_spelling [] xref: SNOMEDCT_US:92118007 xref: UMLS:C0497538 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0006721 name: Acute lymphoblastic leukemia alt_id: HP:0004803 alt_id: HP:0005555 def: "A form of acute leukemia characterized by excess lympoblasts." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute lymphatic leukaemia" EXACT uk_spelling [] synonym: "Acute lymphatic leukemia" EXACT [] synonym: "Acute lymphoblastic leukaemia" EXACT uk_spelling [] synonym: "Acute lymphocytic leukaemia" EXACT uk_spelling [] synonym: "Acute lymphocytic leukemia" EXACT [] synonym: "Acute lymphoid leukaemia" EXACT uk_spelling [] synonym: "Acute lymphoid leukemia" EXACT [] xref: SNOMEDCT_US:128822004 xref: SNOMEDCT_US:91857003 xref: UMLS:C0023449 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006722 name: Small intestine carcinoid xref: UMLS:C1868072 is_a: HP:0100570 ! Carcinoid tumor is_a: HP:0100833 ! Neoplasm of the small intestine [Term] id: HP:0006723 name: Intestinal carcinoid xref: UMLS:C4024988 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0100570 ! Carcinoid tumor [Term] id: HP:0006725 name: Pancreatic adenocarcinoma def: "The presence of an adenocarcinoma of the pancreas." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C2852 xref: SNOMEDCT_US:700423003 xref: UMLS:C0281361 is_a: HP:0002894 ! Neoplasm of the pancreas [Term] id: HP:0006727 name: T-cell acute lymphoblastic leukemias def: "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females." [NCIT:C3183] xref: SNOMEDCT_US:128824003 xref: SNOMEDCT_US:277575008 xref: UMLS:C1961099 is_a: HP:0006721 ! Acute lymphoblastic leukemia [Term] id: HP:0006729 name: Retroperitoneal paraganglioma def: "A paraganglioma (previously referred to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional." [PMID:31751047] comment: The retroperitoneum is an anatomical space located behind the abdominal or peritoneal cavity. Abdominal organs that are not suspended by the mesentery and lie between the abdominal wall and parietal peritoneum are said to lie within the retroperitoneum. Several individual spaces make up the retroperitoneum. These spaces are the anterior pararenal space, posterior pararenal space, and the perirenal space. synonym: "Retroperitoneal chemodectoma" EXACT [] xref: NCIT:C3308 xref: UMLS:C4024987 is_a: HP:0100568 ! Neoplasm of the endocrine system [Term] id: HP:0006731 name: Follicular thyroid carcinoma def: "The presence of an follicular adenocarcinoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C8054 xref: SNOMEDCT_US:255028004 xref: SNOMEDCT_US:28173006 xref: SNOMEDCT_US:5257006 xref: UMLS:C0206682 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0006732 name: Papillary renal cell carcinoma type 2 def: "A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification." [https://orcid.org/0000-0002-9113-2978, PMID:12429790] comment: Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800). xref: UMLS:C1336840 is_a: HP:0006766 ! Papillary renal cell carcinoma [Term] id: HP:0006733 name: Acute megakaryocytic leukemia def: "A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts." [] synonym: "Acute megakaryocytic leukaemia" EXACT uk_spelling [] synonym: "AMegL" EXACT abbreviation [] xref: SNOMEDCT_US:17788007 xref: SNOMEDCT_US:413443009 xref: SNOMEDCT_US:91861009 xref: UMLS:C0023467 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006735 name: Renal cortical adenoma def: "The presence of an adenoma in the cortex of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney cortical adenoma" EXACT [https://orcid.org/0000-0001-5208-3432] xref: NCIT:C2855 xref: SNOMEDCT_US:254919009 xref: UMLS:C0346253 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0006737 name: Extraadrenal pheochromocytoma alt_id: HP:0006764 def: "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [https://orcid.org/0000-0002-0736-9199] synonym: "Pheochromocytoma, extraadrenal" EXACT [] xref: UMLS:C1257877 is_a: HP:0002666 ! Pheochromocytoma [Term] id: HP:0006739 name: Squamous cell carcinoma of the skin alt_id: HP:0007614 def: "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [https://orcid.org/0000-0002-0736-9199] synonym: "Squamous skin carcinoma" EXACT [] xref: SNOMEDCT_US:254651007 xref: UMLS:C0553723 is_a: HP:0002860 ! Squamous cell carcinoma [Term] id: HP:0006740 name: Transitional cell carcinoma of the bladder def: "The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell." [https://orcid.org/0000-0002-0736-9199] synonym: "Transitional cell bladder carcinoma" EXACT [] xref: NCIT:C2930 xref: SNOMEDCT_US:255109008 xref: UMLS:C0279680 is_a: HP:0002862 ! Bladder carcinoma [Term] id: HP:0006742 name: Congenital neuroblastoma xref: UMLS:C4024986 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006743 name: Embryonal rhabdomyosarcoma xref: NCIT:C8971 xref: SNOMEDCT_US:14269005 xref: SNOMEDCT_US:404051002 xref: UMLS:C0206656 is_a: HP:0002859 ! Rhabdomyosarcoma is_a: HP:0002898 ! Embryonal neoplasm [Term] id: HP:0006744 name: Adrenocortical carcinoma alt_id: HP:0002889 alt_id: HP:0006759 def: "A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone." [https://orcid.org/0000-0002-0736-9199] synonym: "Adrenal carcinoma" EXACT [] synonym: "Adrenal gland carinoma" EXACT [] xref: NCIT:C2916 xref: SNOMEDCT_US:2227007 xref: SNOMEDCT_US:255035007 xref: UMLS:C0206686 is_a: HP:0100641 ! Neoplasm of the adrenal cortex [Term] id: HP:0006747 name: Ganglioneuroblastoma xref: SNOMEDCT_US:116381000119105 xref: SNOMEDCT_US:69515008 xref: UMLS:C0206718 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006748 name: Adrenal pheochromocytoma alt_id: HP:0006752 def: "Pheochromocytoma originating from the adrenal medulla." [https://orcid.org/0000-0002-0736-9199] synonym: "Pheochromocytoma, adrenal" EXACT [] synonym: "Pheochromocytomas, adrenal" EXACT [] xref: NCIT:C3326 xref: SNOMEDCT_US:302835009 xref: SNOMEDCT_US:399343007 xref: SNOMEDCT_US:85583005 xref: UMLS:C0031511 is_a: HP:0002666 ! Pheochromocytoma is_a: HP:0100642 ! Neoplasm of the adrenal medulla [Term] id: HP:0006749 name: Malignant gastrointestinal tract tumors synonym: "Malignant gastrointestinal tract tumours" EXACT uk_spelling [] synonym: "Malignant GI tract tumors" EXACT abbreviation [https://orcid.org/0000-0001-5208-3432] synonym: "Malignant GI tract tumours" EXACT uk_spelling [] xref: SNOMEDCT_US:428905002 xref: UMLS:C0685938 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0006751 name: Paraspinal neurofibroma def: "A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine." [] synonym: "Paraspinal neurofibromas" EXACT plural_form [] xref: UMLS:C4024985 is_a: HP:0034761 ! Neurofibroma by anatomical location [Term] id: HP:0006753 name: Neoplasm of the stomach def: "A tumor (abnormal growth of tissue) of the stomach." [https://orcid.org/0000-0002-0736-9199] synonym: "Neoplasia of the stomach" RELATED [] synonym: "Stomach tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stomach tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126824007 xref: UMLS:C0038356 xref: UMLS:C4020813 is_a: HP:0002577 ! Abnormal stomach morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0006755 name: Cutaneous leiomyosarcoma def: "The presence of leiomyosarcoma of the skin." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3158 xref: SNOMEDCT_US:254771006 xref: UMLS:C0346067 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100243 ! Leiomyosarcoma [Term] id: HP:0006756 name: Diffuse leiomyomatosis xref: UMLS:C4024984 is_a: HP:0031459 ! Soft tissue neoplasm [Term] id: HP:0006758 name: Malignant genitourinary tract tumor def: "The presence of a malignant neoplasm of the genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Malignant genitourinary tract tumour" EXACT uk_spelling [] synonym: "Malignant GU tract tumor" EXACT abbreviation [] synonym: "Malignant GU tract tumour" EXACT uk_spelling [] xref: UMLS:C1834728 is_a: HP:0007379 ! Neoplasm of the genitourinary tract [Term] id: HP:0006762 name: Renal pelvic carcinoma def: "The presence of a carcinoma in the renal pelvis." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C2916 xref: UMLS:C4024983 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0006763 name: Anal canal squamous carcinoma xref: UMLS:C4024982 is_a: HP:0030437 ! Anal canal neoplasm [Term] id: HP:0006765 name: Chondrosarcoma def: "A slowly growing malignant neoplasm derived from cartilage cells." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C2946 xref: SNOMEDCT_US:14990007 xref: SNOMEDCT_US:443520009 xref: UMLS:C0008479 is_a: HP:0010622 ! Neoplasm of the skeletal system is_a: HP:0100242 ! Sarcoma [Term] id: HP:0006766 name: Papillary renal cell carcinoma alt_id: HP:0006776 def: "The presence of renal cell carcinoma in the renal papilla." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C2916 xref: UMLS:C1306837 is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006767 name: Pituitary prolactin cell adenoma alt_id: HP:0040278 def: "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women." [https://orcid.org/0000-0002-0538-4547] synonym: "Pituitary prolactinoma" EXACT [] synonym: "Prolactin-secreting pituitary adenoma" EXACT [] synonym: "Prolactinoma" EXACT [] xref: SNOMEDCT_US:134209002 xref: SNOMEDCT_US:34337008 xref: UMLS:C0033375 is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0006768 name: Localized neuroblastoma synonym: "Localised neuroblastoma" EXACT uk_spelling [] xref: UMLS:C4024981 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006769 name: Myxoid subcutaneous tumors synonym: "Myxoid subcutaneous tumours" EXACT uk_spelling [] xref: UMLS:C1834421 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0006770 name: Clear cell renal cell carcinoma def: "A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron." [https://orcid.org/0000-0002-9113-2978] synonym: "Nonpapillary renal cell carcinoma" EXACT [] xref: SNOMEDCT_US:188251003 xref: SNOMEDCT_US:254915003 xref: SNOMEDCT_US:41607009 xref: UMLS:C0279702 is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006771 name: Duodenal adenocarcinoma def: "A malignant epithelial tumor with a glandular organization that originates in the duodenum." [https://orcid.org/0000-0002-0736-9199] synonym: "Duodenal cancer" RELATED [https://orcid.org/0000-0001-6908-9849] xref: NCIT:C2852 xref: SNOMEDCT_US:254570009 xref: SNOMEDCT_US:408644002 xref: UMLS:C0278804 xref: UMLS:C0541912 is_a: HP:0040274 ! Adenocarcinoma of the small intestine [Term] id: HP:0006772 name: Renal angiomyolipoma alt_id: HP:0100873 def: "A benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [https://orcid.org/0000-0002-0736-9199] comment: Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. synonym: "Angiomyolipoma" EXACT [] synonym: "Kidney angiomyolipoma" EXACT [https://orcid.org/0000-0001-6908-9849] xref: NCIT:C3734 xref: SNOMEDCT_US:254921004 xref: UMLS:C0241961 is_a: HP:0008696 ! Renal hamartoma [Term] id: HP:0006773 name: Cutaneous angiolipomas xref: NCIT:C3733 xref: UMLS:C4024980 is_a: HP:0001012 ! Multiple lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0006774 name: Ovarian papillary adenocarcinoma def: "The presence of a papillary adenocarcinoma of the ovary." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C2853 xref: UMLS:C4024979 is_a: HP:0100615 ! Ovarian neoplasm [Term] id: HP:0006775 name: Multiple myeloma def: "A malignant plasma cell tumor growing within soft tissue or within the skeleton." [https://orcid.org/0009-0006-4530-3154] synonym: "Kahler's disease" RELATED [https://orcid.org/0000-0001-6908-9849] synonym: "Plasmocytoma" RELATED [] xref: SNOMEDCT_US:10639003 xref: SNOMEDCT_US:109989006 xref: SNOMEDCT_US:415112005 xref: SNOMEDCT_US:55921005 xref: UMLS:C0026764 xref: UMLS:C0032131 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0006778 name: Benign genitourinary tract neoplasm def: "A non-malignant neoplasm of the genitourinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "Benign genitourinary tract tumor" EXACT [] synonym: "Benign genitourinary tract tumour" EXACT uk_spelling [] synonym: "Benign GU tract neoplasm" EXACT abbreviation [] xref: UMLS:C3804991 is_a: HP:0007379 ! Neoplasm of the genitourinary tract [Term] id: HP:0006779 name: Alveolar rhabdomyosarcoma xref: NCIT:C3749 xref: SNOMEDCT_US:404053004 xref: SNOMEDCT_US:63449009 xref: UMLS:C0206655 is_a: HP:0002859 ! Rhabdomyosarcoma [Term] id: HP:0006780 name: Parathyroid carcinoma def: "A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism." [https://orcid.org/0000-0002-0736-9199] synonym: "Parathyroid Cancer" EXACT [] xref: NCIT:C2916 xref: SNOMEDCT_US:255037004 xref: SNOMEDCT_US:363481002 xref: UMLS:C0687150 is_a: HP:0100733 ! Neoplasm of the parathyroid gland [Term] id: HP:0006781 name: Hurthle cell thyroid adenoma def: "A kind of thyroid adenoma characterized by the presence of oxyphil cells." [https://orcid.org/0000-0002-0736-9199] comment: Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells. xref: UMLS:C1336750 is_a: HP:0000854 ! Thyroid adenoma [Term] id: HP:0006782 name: Malignant eosinophil proliferation xref: UMLS:C1851585 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0006783 name: Posterior pharyngeal cleft xref: UMLS:C1848389 is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0006784 name: Paranasal sinus hypoplasia def: "Underdevelopment of the paranasal sinuses." [https://orcid.org/0000-0002-0736-9199] synonym: "Atelectasis of paranasal sinus" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased growth of paranasal sinus" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased pneumatization of paranasal sinus" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of paranasal sinus" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of paranasal sinus" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic paranasal sinus" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small paranasal sinus" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of paranasal sinus" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2749161 xref: UMLS:C4280256 xref: UMLS:C4280441 xref: UMLS:C4280442 is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses [Term] id: HP:0006785 name: Limb-girdle muscular dystrophy alt_id: HP:0009066 def: "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [https://orcid.org/0000-0002-0736-9199] synonym: "limb girdle muscular dystrophy" EXACT [] xref: SNOMEDCT_US:93153005 xref: UMLS:C0686353 is_a: HP:0003560 ! Muscular dystrophy is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0006789 name: Mitochondrial encephalopathy xref: UMLS:C1852373 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006790 name: Cerebral cortex with spongiform changes xref: UMLS:C1857934 is_a: HP:0002538 ! Abnormal cerebral cortex morphology [Term] id: HP:0006794 name: Loss of ability to walk in first decade synonym: "Loss of ability to walk in first decade" EXACT layperson [] xref: UMLS:C1846133 is_a: HP:0002505 ! Loss of ambulation [Term] id: HP:0006799 name: Basal ganglia cysts alt_id: HP:0007244 synonym: "Cystic lesions in the basal ganglia" EXACT [] xref: UMLS:C1837251 is_a: HP:0002134 ! Abnormal basal ganglia morphology is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0006801 name: Hyperactive deep tendon reflexes alt_id: HP:0007259 xref: UMLS:C1846176 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0006802 name: Abnormal anterior horn cell morphology def: "Any anomaly of the anterior horn cell." [https://orcid.org/0000-0002-0736-9199] comment: Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles. synonym: "Abnormality of the anterior horn cell" BROAD [] synonym: "Abnormality of the anterior horn cells" EXACT [] synonym: "Anomaly of the anterior horn cells" EXACT [] synonym: "Anterior horn cell disease" EXACT [] xref: SNOMEDCT_US:85672005 xref: UMLS:C0154681 xref: UMLS:C4020812 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0006803 name: Vivid hallucination def: "Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment." [] xref: UMLS:C4024978 is_a: HP:0002367 ! Visual hallucination property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0006808 name: Cerebral hypomyelination def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypomyelination of the brain" EXACT [] xref: UMLS:C2677328 is_a: HP:0003429 ! CNS hypomyelination [Term] id: HP:0006812 name: White mater abnormalities in the posterior periventricular region xref: UMLS:C1836525 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0006813 name: Focal hemiclonic seizure def: "A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset." [] comment: A seizure type typically occurring in certain epilepsy syndromes, such as Dravet syndrome and self-limited neonatal seizures. synonym: "Hemiclonic seizure" EXACT [] synonym: "Hemiclonic seizures" EXACT plural_form [] synonym: "Unilateral clonic seizure" EXACT [] synonym: "Unilateral clonic seizures" EXACT plural_form [] xref: UMLS:C1846620 is_a: HP:0002266 ! Focal clonic seizure [Term] id: HP:0006817 name: Aplasia/Hypoplasia of the cerebellar vermis alt_id: HP:0005690 alt_id: HP:0007080 def: "Absence or underdevelopment of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebellar vermis aplasia or hypoplasia" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Cerebellar vermis aplasia/hypoplasia" EXACT [] synonym: "Hypo/aplastic vermis" EXACT [] xref: UMLS:C1855676 xref: UMLS:C3280770 is_a: HP:0002334 ! Abnormal cerebellar vermis morphology is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0006818 name: 4-layered lissencephaly def: "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28440899] synonym: "Classic lissencephaly" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Four-layered lissencephaly" EXACT [] synonym: "Lissencephaly, type I" EXACT [] synonym: "Type 1 lissencephaly" EXACT [] synonym: "Type I lissencephaly" EXACT [] xref: SNOMEDCT_US:253147000 xref: UMLS:C0431375 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0006821 name: Frontal polymicrogyria def: "A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum." [http://www.wikidata.org/entity/Q90573458, PMID:20301504] synonym: "Polymicrogyria, anterior to posterior gradient" EXACT [] xref: UMLS:C1847356 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006824 name: Cranial nerve paralysis alt_id: HP:0001353 alt_id: HP:0002377 synonym: "Cranial nerve palsies" EXACT [] synonym: "Cranial nerve palsy" EXACT [] synonym: "Cranial nerve paresis" EXACT [] xref: SNOMEDCT_US:73013002 xref: UMLS:C0151311 xref: UMLS:C4025709 is_a: HP:0031910 ! Abnormal cranial nerve physiology [Term] id: HP:0006825 name: Pallor of dorsal columns of the spinal cord def: "An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination." [] xref: UMLS:C1865416 is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord [Term] id: HP:0006827 name: Atrophy of the spinal cord synonym: "Degeneration of the spinal cord" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1389102 is_a: HP:0007344 ! Atrophy/Degeneration involving the spinal cord [Term] id: HP:0006829 name: Severe muscular hypotonia alt_id: HP:0002347 def: "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypotonia, severe" EXACT [] synonym: "Severely decreased muscle tone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1839630 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0006830 name: obsolete Severe neonatal hypotonia in males is_obsolete: true consider: HP:0001319 [Term] id: HP:0006834 name: Developmental stagnation at onset of seizures def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1836829 is_a: HP:0007281 ! Developmental stagnation [Term] id: HP:0006837 name: Congenital Horner syndrome def: "A type of Horner syndrome with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1840475 is_a: HP:0002277 ! Horner syndrome [Term] id: HP:0006844 name: Absent patellar reflexes def: "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent knee jerk reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:274817009 xref: UMLS:C0558844 is_a: HP:0002522 ! Areflexia of lower limbs [Term] id: HP:0006846 name: Acute encephalopathy xref: SNOMEDCT_US:2776000 xref: UMLS:C1306587 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006849 name: Hypodysplasia of the corpus callosum def: "Developmental defect characterized by a small and malformed corpus callosum." [] xref: UMLS:C1850348 is_a: HP:0002079 ! Hypoplasia of the corpus callosum [Term] id: HP:0006850 name: Hypoplasia of the ventral pons def: "Underdevelopment of the ventral portion of the pons." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped ventral pons" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1843507 is_a: HP:0012110 ! Hypoplasia of the pons [Term] id: HP:0006851 name: Symmetric spinal nerve root neurofibromas def: "Multiple neurofibromas of the spinal nerve roots with a symmetric distribution." [https://orcid.org/0000-0002-0736-9199] synonym: "Spinal nerve root neurofibromas, symmetric, multiple" EXACT [] xref: UMLS:C1834236 is_a: HP:0009735 ! Spinal neurofibroma [Term] id: HP:0006852 name: Episodic generalized hypotonia def: "The occurrence of repeated episodes of generalized muscular hypotonia." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic generalised hypotonia" EXACT uk_spelling [] xref: UMLS:C4024976 is_a: HP:0001290 ! Generalized hypotonia [Term] id: HP:0006855 name: Cerebellar vermis atrophy alt_id: HP:0007121 alt_id: HP:0007312 def: "Wasting (atrophy) of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] comment: This sign can be visualized with brain MRI. synonym: "Atrophy of cerebellar vermis" EXACT [] synonym: "Atrophy of the cerebellar vermis" EXACT [] synonym: "Vermian atrophy" EXACT [] xref: UMLS:C0742028 is_a: HP:0001272 ! Cerebellar atrophy is_a: HP:0002334 ! Abnormal cerebellar vermis morphology [Term] id: HP:0006858 name: Impaired distal proprioception alt_id: HP:0007056 alt_id: HP:0007148 def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Distal sensory loss of proprioception" EXACT [] xref: UMLS:C4021585 is_a: HP:0002936 ! Distal sensory impairment is_a: HP:0010831 ! Impaired proprioception [Term] id: HP:0006859 name: Posterior leukoencephalopathy xref: UMLS:C4024975 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006863 name: Severe expressive language delay def: "A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-6410-0882] xref: SNOMEDCT_US:62221000119105 xref: UMLS:C1851085 is_a: HP:0002474 ! Expressive language delay [Term] id: HP:0006865 name: Sensorimotor polyneuropathy affecting arms more than legs xref: UMLS:C4024974 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006866 name: Midline central nervous system lipomas synonym: "Midline CNS lipomas" EXACT abbreviation [] xref: UMLS:C4024973 is_a: HP:0100251 ! Multiple central nervous system lipomas [Term] id: HP:0006870 name: Lobar holoprosencephaly def: "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally." [HPO_CONTRIBUTOR:GC_HPE] xref: SNOMEDCT_US:253136007 xref: UMLS:C0431362 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006872 name: Cerebral hypoplasia alt_id: HP:0001322 def: "Underdevelopment of the cerebrum." [https://orcid.org/0000-0002-0736-9199] synonym: "Small cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855330 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0006873 name: Symmetrical progressive peripheral demyelination def: "A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024972 is_a: HP:0007262 ! Symmetric peripheral demyelination [Term] id: HP:0006877 name: obsolete Mental retardation, in some is_obsolete: true replaced_by: HP:0001249 [Term] id: HP:0006879 name: Pontocerebellar atrophy def: "Atrophy affecting the pons and the cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebellopontine atrophy" EXACT [] xref: UMLS:C1853766 is_a: HP:0001272 ! Cerebellar atrophy is_a: HP:0007361 ! Abnormal pons morphology [Term] id: HP:0006880 name: Cerebellar hemangioblastoma alt_id: HP:0006761 def: "A hemangioblastoma of the cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Hemangioblastoma, sporadic cerebellar" EXACT [] xref: NCIT:C3801 xref: UMLS:C1332900 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0010797 ! Hemangioblastoma [Term] id: HP:0006881 name: Diffuse peripheral demyelination def: "A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024971 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0006882 name: Severe hydrocephalus xref: UMLS:C3278123 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0006886 name: Impaired distal vibration sensation def: "A decrease in the ability to perceive vibration in the distal portions of the limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased distal vibration sense" EXACT [] xref: UMLS:C1853767 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006887 name: Intellectual disability, progressive alt_id: HP:0001261 alt_id: HP:0006924 alt_id: HP:0007025 alt_id: HP:0007044 alt_id: HP:0007243 def: "The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time." [https://orcid.org/0000-0002-0736-9199] synonym: "Intellectual disability, progressive" EXACT layperson [] synonym: "Mental retardation, progressive" EXACT layperson [] synonym: "Progressive mental retardation" EXACT layperson [] xref: UMLS:C1846149 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0006888 name: Meningoencephalocele xref: SNOMEDCT_US:52330001 xref: UMLS:C0266456 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006889 name: Intellectual disability, borderline def: "Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85." [https://orcid.org/0000-0002-0736-9199, PMID:20537050] comment: We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification. synonym: "Intellectual disability, borderline" EXACT layperson [] synonym: "Mental retardation, borderline" EXACT layperson [] xref: SNOMEDCT_US:77287004 xref: UMLS:C0006009 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0006891 name: Thick cerebral cortex xref: UMLS:C4024970 is_a: HP:0002538 ! Abnormal cerebral cortex morphology [Term] id: HP:0006892 name: Frontotemporal cerebral atrophy def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebral atrophy, frontotemporal" EXACT [] xref: UMLS:C4021584 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0006893 name: obsolete Severely dysplastic cerebellum comment: Use Cerebellar dysplasia (HP:0007033) with the modifier Severe. is_obsolete: true replaced_by: HP:0007033 [Term] id: HP:0006894 name: Hypoplastic olfactory lobes xref: UMLS:C1859231 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0025057 ! Abnormal olfactory lobe morphology [Term] id: HP:0006895 name: Lower limb hypertonia xref: UMLS:C1845245 is_a: HP:0002509 ! Limb hypertonia [Term] id: HP:0006896 name: Hypnopompic hallucination def: "Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake." [PMID:27872259] synonym: "Hallucinations while awaking" EXACT [] xref: SNOMEDCT_US:69690008 xref: UMLS:C0424082 is_a: HP:0000738 ! Hallucinations is_a: HP:5200297 ! Abnormal hypnopompia property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0006897 name: Abducens palsy alt_id: HP:0011349 def: "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia." [PMID:29489275] comment: Affected individuals may experience diplopia as well as esotropia or convergent strabismus. synonym: "Abducens nerve palsy" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abducens nerve paralysis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abducens nerve paresis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cranial nerve VI palsy" EXACT [] synonym: "Lateral rectus muscle denervation paresis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Sixth nerve palsy" EXACT [] xref: SNOMEDCT_US:398760006 xref: SNOMEDCT_US:398925009 xref: SNOMEDCT_US:398963001 xref: UMLS:C0271355 is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0006899 name: Fusion of the cerebellar hemispheres xref: UMLS:C1866131 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0006901 name: obsolete Impaired thermal sensitivity is_obsolete: true replaced_by: HP:0010829 [Term] id: HP:0006903 name: Congenital peripheral neuropathy xref: UMLS:C4024967 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006904 name: Late-onset spinocerebellar degeneration xref: UMLS:C1856604 is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0006906 name: Congenital intracerebral calcification def: "The presence of calcium deposition within brain structures that is present already at the time of birth." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024966 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0006913 name: Frontal cortical atrophy def: "Atrophy of the frontal cortex." [https://orcid.org/0000-0002-0736-9199] synonym: "Frontal cortex degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024965 is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0006915 name: Inability to walk by childhood/adolescence synonym: "Inability to walk by childhood/adolescence" EXACT layperson [] xref: UMLS:C1859200 is_a: HP:0002540 ! Inability to walk [Term] id: HP:0006916 name: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material def: "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons." [https://orcid.org/0000-0002-0736-9199] synonym: "Intraaxonal accumulation of curvilinear profiles" RELATED [] xref: UMLS:C1832339 xref: UMLS:C4024964 is_a: HP:0003205 ! Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0006918 name: Diffuse cerebral sclerosis xref: SNOMEDCT_US:49692006 xref: UMLS:C0007795 is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0006919 name: obsolete Abnormal aggressive, impulsive or violent behavior is_obsolete: true replaced_by: HP:0000718 [Term] id: HP:0006921 name: Axial muscle stiffness def: "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024962 is_a: HP:0003552 ! Muscle stiffness is_a: HP:0040286 ! Abnormal axial muscle morphology [Term] id: HP:0006926 name: obsolete Metachromatic leukodystrophy variant is_obsolete: true replaced_by: HP:0002415 [Term] id: HP:0006927 name: Unilateral polymicrogyria def: "Excessive number of small gyri (convolutions) on the surface of one side of the brain." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:715905006 xref: UMLS:C4024960 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006929 name: Hypoglycemic encephalopathy def: "Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:64624009 xref: UMLS:C0149877 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006930 name: Frontoparietal cortical dysplasia def: "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024959 is_a: HP:0002539 ! Cortical dysplasia [Term] id: HP:0006931 name: Pericallosal lipoma def: "Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain." [https://orcid.org/0000-0002-3302-4610, PMID:30104143] synonym: "Lipoma of corpus callosum" EXACT [] xref: UMLS:C1333160 is_a: HP:0001273 ! Abnormal corpus callosum morphology is_a: HP:0006866 ! Midline central nervous system lipomas [Term] id: HP:0006932 name: Transient psychotic episodes def: "Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event." [] synonym: "Brief psychotic episodes" EXACT [] synonym: "Brief reactive psychosis" EXACT [] xref: UMLS:C4024958 is_a: HP:5200430 ! Abnormal psychotic pattern property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0006934 name: Congenital nystagmus def: "Nystagmus dating from or present at birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Nystagmus, congenital" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:64635004 xref: UMLS:C0700501 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0006937 name: Impaired distal tactile sensation alt_id: HP:0006981 def: "A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased distal touch sense" EXACT [] synonym: "Decreased touch sensation in extremities" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C4021583 is_a: HP:0002936 ! Distal sensory impairment is_a: HP:0010830 ! Impaired tactile sensation [Term] id: HP:0006938 name: Impaired vibration sensation at ankles alt_id: HP:0007144 def: "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased vibration sense at ankles" EXACT layperson [] synonym: "Decreased vibration sense in feet" EXACT layperson [] synonym: "Impaired vibration sensation at ankles" EXACT layperson [] xref: UMLS:C1854372 is_a: HP:0002166 ! Impaired vibration sensation in the lower limbs is_a: HP:0006886 ! Impaired distal vibration sensation [Term] id: HP:0006943 name: Diffuse spongiform leukoencephalopathy xref: UMLS:C1858857 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006944 name: Abolished vibration sense def: "A complete loss of the ability to perceive vibration." [https://orcid.org/0000-0002-0736-9199] synonym: "Apallesthesia" EXACT [] xref: UMLS:C1837520 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006946 name: Recurrent meningitis def: "An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0746495 is_a: HP:0011450 ! Unusual CNS infection [Term] id: HP:0006949 name: Episodic peripheral neuropathy xref: UMLS:C1848695 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006951 name: Retrocerebellar cyst xref: UMLS:C1845370 is_a: HP:0002350 ! Cerebellar cyst [Term] id: HP:0006955 name: Olivopontocerebellar hypoplasia alt_id: HP:0007168 def: "Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859341 is_a: HP:0001321 ! Cerebellar hypoplasia is_a: HP:0012110 ! Hypoplasia of the pons [Term] id: HP:0006956 name: Lateral ventricle dilatation alt_id: HP:0006796 alt_id: HP:0006945 alt_id: HP:0007173 synonym: "Dilatation of lateral cerebral ventricles" EXACT [] synonym: "Dilation of lateral ventricles" EXACT [] synonym: "Enlarged lateral ventricles" EXACT [] synonym: "Lateral ventricle dilatation" EXACT [] xref: UMLS:C1856409 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0030047 ! Abnormal lateral ventricle morphology [Term] id: HP:0006957 name: obsolete Loss of ability to walk is_obsolete: true replaced_by: HP:0002505 [Term] id: HP:0006958 name: Abnormal auditory evoked potentials alt_id: HP:0003151 alt_id: HP:0004462 alt_id: HP:0006923 def: "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex." [https://orcid.org/0000-0002-0736-9199] comment: Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea. synonym: "Abnormal brainstem auditory-evoked potentials" EXACT [] xref: SNOMEDCT_US:102971006 xref: UMLS:C0522216 is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology is_a: HP:0430106 ! Abnormal brain-evoked potentials [Term] id: HP:0006959 name: Proximal spinal muscular atrophy def: "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024957 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0006960 name: Choroid plexus calcification def: "The presence of calcium deposition in the choroid plexus." [https://orcid.org/0000-0002-0736-9199] synonym: "Calcified choroid plexus" EXACT [] xref: UMLS:C1863184 is_a: HP:0007376 ! Abnormal choroid plexus morphology is_a: HP:0430048 ! Intracranial calcification [Term] id: HP:0006961 name: Jerky head movements synonym: "Head jerking" EXACT layperson [] synonym: "Jerking head movements" EXACT layperson [] xref: UMLS:C1855568 is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0006962 name: Gait instability, worse in the dark synonym: "Unstable walking, worse in the dark" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837016 is_a: HP:0002317 ! Unsteady gait [Term] id: HP:0006964 name: Cerebral cortical neurodegeneration xref: UMLS:C1859863 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0006965 name: Acute necrotizing encephalopathy xref: UMLS:C1855020 is_a: HP:0006846 ! Acute encephalopathy [Term] id: HP:0006970 name: Periventricular leukomalacia def: "Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia." [PMID:16808630, PMID:18852342, PMID:28406931] comment: Periventricular leukomalacia is the leading known cause of cerebral palsy. Magnetic resonance imaging-based neuroimaging techniques provide greater diagnostic sensitivity for PVL than does head ultrasonography and often document the involvement of telencephalic gray matter and long tracts in addition to periventricular white matter. synonym: "PVL" EXACT abbreviation [] xref: SNOMEDCT_US:230769007 xref: UMLS:C0023529 is_a: HP:0002518 ! Abnormal periventricular white matter morphology [Term] id: HP:0006976 name: Necrotizing encephalopathy def: "A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue." [HPO_CONTRIBUTOR:KI_phemming, PMID:23705127] comment: The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. xref: UMLS:C1396481 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006977 name: Deficit in grammar def: "Deficit in grammar, including syntax and morphology." [] synonym: "Grammar-specific speech disorder" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: UMLS:C4024956 is_a: HP:0002463 ! Language impairment property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0006978 name: Dysmyelinating leukodystrophy xref: UMLS:C3278204 is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006979 name: Sleep-wake cycle disturbance def: "Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder." [PMID:30725708, PMID:36115370, PMID:36872502] comment: Often, patients complain of insomnia when their desired sleep-wake cycle is inconsistent with their intrinsic rhythms. synonym: "Internal-clock disorders" EXACT [] synonym: "Sleep phase disturbance" EXACT [] synonym: "Sleep-wake cycle disorders" EXACT [] synonym: "Sleep-wake cycle disturbance" EXACT layperson [] xref: UMLS:C1833362 is_a: HP:0002360 ! Sleep abnormality property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0006980 name: Progressive leukoencephalopathy def: "Leukoencephalopathy that gets more severe with time." [https://orcid.org/0000-0002-0736-9199] synonym: "Leukoencephalopathy, progressive" EXACT [] xref: UMLS:C1855010 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006983 name: obsolete Slowly progressive spastic quadriparesis is_obsolete: true replaced_by: HP:0002510 [Term] id: HP:0006984 name: obsolete Distal sensory loss of all modalities is_obsolete: true replaced_by: HP:0003409 [Term] id: HP:0006986 name: Upper limb spasticity synonym: "Spastic upper extremities" EXACT [] synonym: "Spastic upper extremity" EXACT [] synonym: "Spastic upper limb" EXACT [] synonym: "Spastic upper limbs" EXACT [] synonym: "Spasticity in upper extremities" EXACT [] synonym: "Spasticity in upper extremity" EXACT [] synonym: "Spasticity in upper limb" EXACT [] synonym: "Spasticity in upper limbs" EXACT [] synonym: "Spasticity of upper extremities" EXACT [] synonym: "Spasticity of upper extremity" EXACT [] synonym: "Spasticity of upper limb" EXACT [] synonym: "Spasticity of upper limbs" EXACT [] synonym: "Uncontrollable movement in upper arms" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Upper extremities spasticity" EXACT [] synonym: "Upper extremity spasticity" EXACT [] xref: SNOMEDCT_US:394680009 xref: UMLS:C1273957 is_a: HP:0034353 ! Appendicular spasticity [Term] id: HP:0006988 name: Alobar holoprosencephaly def: "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged." [HPO_CONTRIBUTOR:GC_HPE] xref: SNOMEDCT_US:253137003 xref: UMLS:C0431363 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006989 name: Dysplastic corpus callosum alt_id: HP:0006996 def: "Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium." [https://orcid.org/0000-0002-0736-9199, PMID:21263138] synonym: "Dysgenesis of corpus callosum" EXACT [] synonym: "Dysplasia of corpus callosum" EXACT [] xref: UMLS:C0431369 is_a: HP:0001273 ! Abnormal corpus callosum morphology [Term] id: HP:0006990 name: Myelin-dependent gliosis def: "A type of gliosis that occurs in the vicinity of injured neurons." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024954 is_a: HP:0002171 ! Gliosis [Term] id: HP:0006992 name: Anterior basal encephalocele xref: UMLS:C1850961 is_a: HP:0007035 ! Anterior encephalocele [Term] id: HP:0006994 name: Diffuse leukoencephalopathy xref: UMLS:C1868514 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006999 name: Basal ganglia gliosis def: "Focal proliferation of glial cells in the basal ganglia." [https://orcid.org/0000-0002-0736-9199] comment: Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue. synonym: "Gliosis in the basal ganglia" EXACT [] xref: UMLS:C1864114 xref: UMLS:C2750915 is_a: HP:0002134 ! Abnormal basal ganglia morphology is_a: HP:0002171 ! Gliosis [Term] id: HP:0007000 name: Morning myoclonic jerks xref: UMLS:C1847164 is_a: HP:0001336 ! Myoclonus [Term] id: HP:0007001 name: Loss of Purkinje cells in the cerebellar vermis xref: UMLS:C1849146 is_a: HP:0002334 ! Abnormal cerebellar vermis morphology [Term] id: HP:0007002 name: Motor axonal neuropathy alt_id: HP:0007349 def: "Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg." [https://orcid.org/0000-0002-0736-9199] comment: Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available. synonym: "Distal motor neuropathy" RELATED [] synonym: "Length dependent motor neuropathy" RELATED [] xref: UMLS:C1854570 xref: UMLS:C2749625 xref: UMLS:C4020811 is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0007006 name: Dorsal column degeneration xref: UMLS:C4024953 is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord [Term] id: HP:0007007 name: Cavitation of the basal ganglia alt_id: HP:0007246 def: "The formation of small cavities in the tissue of the basal ganglia." [https://orcid.org/0000-0002-0736-9199, PMID:8516046] comment: This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images. xref: UMLS:C4024952 is_a: HP:0002134 ! Abnormal basal ganglia morphology [Term] id: HP:0007009 name: Central nervous system degeneration synonym: "CNS degeneration" EXACT abbreviation [] xref: UMLS:C3277687 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007010 name: Poor fine motor coordination def: "An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes." [] synonym: "Fine motor disability" EXACT [] synonym: "Fine motor impairment" EXACT [] synonym: "Fine motor skill dysfunction" EXACT [] synonym: "Impaired fine motor skills" EXACT [] xref: UMLS:C1867864 is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007011 name: Fourth cranial nerve palsy def: "Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly." [https://orcid.org/0000-0001-5208-3432] comment: The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. synonym: "Trochlear nerve palsy" EXACT [] xref: SNOMEDCT_US:20610004 xref: UMLS:C0271375 is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0007015 name: Poor gross motor coordination def: "An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts." [] synonym: "Gross motor impairment" EXACT [] xref: UMLS:C1867863 is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007016 name: Corticospinal tract hypoplasia xref: UMLS:C1844007 is_a: HP:0007365 ! Aplasia/Hypoplasia involving the corticospinal tracts [Term] id: HP:0007017 name: Progressive forgetfulness synonym: "Forgetfullness" BROAD layperson [] xref: UMLS:C3277688 is_a: HP:0002354 ! Memory impairment [Term] id: HP:0007018 name: Attention deficit hyperactivity disorder alt_id: HP:0001576 alt_id: HP:0001577 alt_id: HP:0006973 def: "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [https://orcid.org/0000-0002-0736-9199] synonym: "ADHD" EXACT abbreviation [] synonym: "Attention deficit" EXACT layperson [] synonym: "Attention deficit disorder" EXACT layperson [] synonym: "Attention deficit-hyperactivity disorder" EXACT layperson [] synonym: "Attention deficits" EXACT layperson [] synonym: "Childhood attention deficit/hyperactivity disorder" EXACT layperson [] xref: SNOMEDCT_US:406506008 xref: SNOMEDCT_US:7461003 xref: UMLS:C1263846 is_a: HP:0000736 ! Short attention span is_a: HP:0000752 ! Hyperactivity [Term] id: HP:0007020 name: Progressive spastic paraplegia alt_id: HP:0006875 alt_id: HP:0007255 xref: UMLS:C1855483 is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007021 name: Pain insensitivity alt_id: HP:0003404 def: "Inability to perceive painful stimuli." [https://orcid.org/0000-0002-0736-9199] comment: The word Anesthesia is occasionally used to refer to lack of pain sensation, although it is more usually used to denote a medical procedure design to relieve pain. synonym: "Absence of pain sensation" EXACT [] xref: SNOMEDCT_US:38433004 xref: UMLS:C0344307 is_a: HP:0007328 ! Impaired pain sensation [Term] id: HP:0007023 name: Antenatal intracerebral hemorrhage def: "Cerebral hemorrhage that occurs before birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Antenatal intracerebral haemorrhage" EXACT uk_spelling [] xref: UMLS:C1837247 is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0007024 name: Pseudobulbar paralysis alt_id: HP:0002201 alt_id: HP:0006819 def: "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing." [https://orcid.org/0009-0006-4530-3154] synonym: "Pseudobulbar palsy" EXACT [] synonym: "Pseudobulbar syndrome" EXACT [] xref: SNOMEDCT_US:7379000 xref: UMLS:C0033790 is_a: HP:0001260 ! Dysarthria is_a: HP:0001618 ! Dysphonia is_a: HP:0002015 ! Dysphagia is_a: HP:0002200 ! Pseudobulbar signs is_a: HP:0003470 ! Paralysis [Term] id: HP:0007027 name: Poorly formed metencephalon def: "A morphological abnormality of the metencephalon." [https://orcid.org/0000-0002-0736-9199] comment: The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain. xref: UMLS:C4024951 is_a: HP:0011283 ! Abnormal metencephalon morphology [Term] id: HP:0007029 name: Cerebral berry aneurysm def: "A small, sac-like aneurysm (outpouching) of a cerebral blood vessel." [https://orcid.org/0000-0002-0736-9199] comment: Saccular aneurysms are often said to have a berry-shaped appearance, whence the name. synonym: "Cerebral saccular aneurysm" EXACT [] xref: SNOMEDCT_US:54002007 xref: UMLS:C2713497 is_a: HP:0004944 ! Dilatation of the cerebral artery [Term] id: HP:0007030 name: Nonprogressive encephalopathy xref: UMLS:C4024950 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007033 name: Cerebellar dysplasia alt_id: HP:0006893 def: "Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts." [https://orcid.org/0000-0002-0736-9199, PMID:25105227, PMID:27160001] comment: Any part of the cerebellum can be dysplastic, from small focal regions within one hemisphere to abnormal foliation throughout the cerebellum. Hypoplastic cerebella are frequently also dysmorphic, as observed in tubulinopathies and cobblestone malformations. xref: UMLS:C3278322 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0007034 name: Generalized hyperreflexia synonym: "Generalised hyperreflexia" EXACT uk_spelling [] xref: UMLS:C4024949 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007035 name: Anterior encephalocele def: "A type of congenital malformation in which brain tissue protrudes through a defect in the anterior (front) part of the skull." [PMID:22069427, PMID:32965839] comment: Anterior encephalocele development occurs from abnormal development of the foramen cecum. A diverticulum of dura usually projects anteriorly between the developing nasal and frontal bones at the fonticulus frontalis/foramen cecum. Later in embryogenesis, the diverticulum regresses, and the bone closes. However, if it does not regress, the brain can herniate through the bone defect and form an encephalocele. synonym: "Sincipital encephalocele" EXACT [] xref: UMLS:C4024948 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007036 name: Hypoplasia of olfactory tract synonym: "Underdeveloped olfactory tract" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856655 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system [Term] id: HP:0007039 name: Symmetric T2-signal increase with T1-signal decrease in the putamen def: "A symmetric magnetic resonance imaing (MRI) abnormality of the basal ganglia characterized by an increase of signal intensity in T2-weighted images and a corresponding signal decrease on T1-weighted images." [PMID:15210883] comment: Pathological processes characterized by increased tissue water content show signal loss on T1-weighted images and a signal increase on T2-weighted images. xref: UMLS:C4024947 is_a: HP:0002134 ! Abnormal basal ganglia morphology [Term] id: HP:0007041 name: Chronic lymphocytic meningitis def: "Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF)." [PMID:27608867] xref: SNOMEDCT_US:230154004 xref: UMLS:C0393441 is_a: HP:0001287 ! Meningitis [Term] id: HP:0007042 name: Focal white matter lesions xref: UMLS:C4024946 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0007045 name: Midline brain calcifications xref: UMLS:C1855487 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007047 name: Atrophy of the dentate nucleus def: "Partial or complete wasting (loss) of dentate nucleus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857788 is_a: HP:0100321 ! Abnormal dentate nucleus morphology [Term] id: HP:0007048 name: Large basal ganglia def: "Increased size of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859470 is_a: HP:0002134 ! Abnormal basal ganglia morphology [Term] id: HP:0007052 name: Multifocal cerebral white matter abnormalities xref: UMLS:C1833434 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0007054 name: Proximal hyperreflexia def: "Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee)." [] synonym: "Hyperreflexia proximally" EXACT [] xref: UMLS:C1836012 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007057 name: Poor hand-eye coordination xref: UMLS:C1845864 is_a: HP:0002370 ! Poor coordination [Term] id: HP:0007058 name: Generalized cerebral atrophy/hypoplasia def: "Generalized atrophy or hypoplasia of the cerebrum." [https://orcid.org/0009-0006-4530-3154] synonym: "Generalised cerebral atrophy/hypoplasia" EXACT uk_spelling [] synonym: "Generalised cerebral degeneration/underdevelopment" EXACT uk_spelling [] synonym: "Generalized cerebral degeneration/underdevelopment" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024945 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0007063 name: Aplasia of the inferior half of the cerebellar vermis synonym: "Absent inferior half of the cerebellar vermis" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1857787 is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0007064 name: Progressive language deterioration def: "Progressive loss of previously present language abilities." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1843793 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007065 name: Disorganization of the anterior cerebellar vermis synonym: "Disorganisation of the anterior cerebellar vermis" EXACT uk_spelling [] xref: UMLS:C1845369 is_a: HP:0002334 ! Abnormal cerebellar vermis morphology [Term] id: HP:0007066 name: Proximal limb muscle stiffness def: "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle." [https://orcid.org/0000-0001-5208-3432] comment: Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb xref: UMLS:C1861460 is_a: HP:0003552 ! Muscle stiffness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0007067 name: Distal peripheral sensory neuropathy def: "Peripheral sensory neuropathy affecting primarily distal sensation." [https://orcid.org/0000-0002-0736-9199] synonym: "Peripheral sensory neuropathy, distal" EXACT [] xref: UMLS:C4021582 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0007068 name: Inferior cerebellar vermis hypoplasia alt_id: HP:0005724 def: "Underdevelopment of the inferior portion of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199, PMID:16580298] synonym: "Hypoplasia of inferior vermis" EXACT [] synonym: "Inferior vermis hypoplasia" EXACT [] xref: UMLS:C1855350 is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0007069 name: Profound static encephalopathy xref: UMLS:C4024944 is_a: HP:0007030 ! Nonprogressive encephalopathy [Term] id: HP:0007074 name: Thick corpus callosum alt_id: HP:0006805 alt_id: HP:0006807 alt_id: HP:0200009 alt_id: HP:0200010 def: "Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain." [HPO_CONTRIBUTOR:KI_phemming, PMID:10029348] synonym: "Abnormal size of corpus callosum" EXACT [] synonym: "Large corpus callosum" EXACT [] xref: UMLS:C1835194 is_a: HP:0001273 ! Abnormal corpus callosum morphology [Term] id: HP:0007076 name: Extrapyramidal muscular rigidity def: "Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [https://orcid.org/0000-0002-0736-9199] comment: This is a classic type of extrapyramidal movement disorder. xref: UMLS:C1852470 is_a: HP:0002063 ! Rigidity is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0007078 name: Decreased amplitude of sensory action potentials def: "A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024943 is_a: HP:0030179 ! Abnormal peripheral action potential amplitude [Term] id: HP:0007081 name: obsolete Late-onset muscular dystrophy is_obsolete: true replaced_by: HP:0003560 [Term] id: HP:0007082 name: Dilated third ventricle def: "An increase in size of the third ventricle." [https://orcid.org/0000-0002-0736-9199] comment: The third ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle. xref: UMLS:C4024941 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0010951 ! Abnormal third ventricle morphology [Term] id: HP:0007083 name: Hyperactive patellar reflex synonym: "Brisk knee jerk" RELATED layperson [] synonym: "Hyperreflexia in knees" EXACT [] synonym: "Overactive knee reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C0240116 is_a: HP:0002395 ! Lower limb hyperreflexia is_a: HP:0007054 ! Proximal hyperreflexia [Term] id: HP:0007086 name: Social and occupational deterioration xref: UMLS:C1866986 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0007087 name: obsolete Involuntary jerking movements is_obsolete: true replaced_by: HP:0001336 [Term] id: HP:0007089 name: Facial-lingual fasciculations def: "Fasciculations affecting the tongue muscle and the musculature of the face." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1862359 is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation [Term] id: HP:0007095 name: obsolete Frontoparietal polymicrogyria is_obsolete: true replaced_by: HP:0012650 [Term] id: HP:0007096 name: Hypoplasia of the optic tract synonym: "Underdeveloped optic tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856654 is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract [Term] id: HP:0007097 name: Cranial nerve motor loss xref: UMLS:C4024940 is_a: HP:0001291 ! Abnormal cranial nerve morphology [Term] id: HP:0007098 name: Paroxysmal choreoathetosis alt_id: HP:0002351 def: "Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements." [https://orcid.org/0000-0002-0736-9199] synonym: "Choreoathetosis, episodic" EXACT [] synonym: "Choreoathetosis, intermittent" EXACT [] xref: SNOMEDCT_US:49949003 xref: UMLS:C1851936 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007099 name: Chiari type I malformation alt_id: HP:0002440 def: "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)" [https://orcid.org/0000-0002-0736-9199, PMID:28613730] synonym: "Arnold Chiari type I malformation" EXACT [] synonym: "Arnold-Chiari type I malformation" EXACT [] synonym: "Chiari I malformation" EXACT [] xref: SNOMEDCT_US:253185002 xref: UMLS:C0750929 is_a: HP:0002308 ! Chiari malformation [Term] id: HP:0007100 name: Progressive ventriculomegaly xref: UMLS:C1865119 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0007103 name: Hypointensity of cerebral white matter on MRI alt_id: HP:0006804 def: "A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter." [https://orcid.org/0000-0002-0736-9199] synonym: "White matter hypointensities on MRI" EXACT [] xref: UMLS:C4020908 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0007104 name: Prolonged somatosensory evoked potentials xref: UMLS:C4024939 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0007105 name: Infantile encephalopathy alt_id: HP:0006948 alt_id: HP:0007309 alt_id: HP:0007353 def: "Encephalopathy with onset in the infantile period." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856408 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007107 name: Segmental peripheral demyelination def: "A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024938 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0007108 name: Demyelinating peripheral neuropathy alt_id: HP:0007205 def: "Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:23414001 xref: UMLS:C0270922 is_a: HP:0009830 ! Peripheral neuropathy is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007109 name: Periventricular cysts xref: UMLS:C1839858 is_a: HP:0002518 ! Abnormal periventricular white matter morphology is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0007110 name: Central hypoventilation xref: UMLS:C3805839 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0007111 name: Chronic hepatic encephalopathy xref: UMLS:C4024937 is_a: HP:0002480 ! Hepatic encephalopathy [Term] id: HP:0007112 name: Temporal cortical atrophy def: "Atrophy of the temporal cortex." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024936 is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0007115 name: Naso-orbital encephalocele def: "A type of encephalocele that occurs along the medial orbit wall at the level of the frontal process of the maxilla and the ethmoid-lacrimal bone junction." [] synonym: "Orbital encephalocele" EXACT [] xref: SNOMEDCT_US:15671007 xref: UMLS:C0271330 is_a: HP:0007330 ! Frontoethmoidal encephalocele [Term] id: HP:0007117 name: Corticospinal tract atrophy xref: UMLS:C1838868 is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0007123 name: Subcortical dementia def: "A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change." [https://orcid.org/0000-0002-0736-9199, PMID:4819905] xref: UMLS:C4024935 is_a: HP:0000726 ! Dementia [Term] id: HP:0007126 name: Proximal amyotrophy alt_id: HP:0006792 alt_id: HP:0006966 alt_id: HP:0008943 alt_id: HP:0008980 alt_id: HP:0009041 def: "Amyotrophy (muscular atrophy) affecting the proximal musculature." [https://orcid.org/0000-0002-0736-9199] comment: Proximal amyotrophy usually has a roughly symmetric distribution. synonym: "Muscle atrophy, proximal" EXACT [] synonym: "Proximal muscle atrophy" EXACT [] synonym: "Proximal muscle wasting" EXACT [] synonym: "Symmetric proximal muscular atrophy" EXACT [] synonym: "Symmetrical, proximal limb muscle atrophy" EXACT [] synonym: "Wasting of muscles near the body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1850794 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007129 name: Cerebellar medulloblastoma xref: UMLS:C4024934 is_a: HP:0002885 ! Medulloblastoma [Term] id: HP:0007131 name: Acute demyelinating polyneuropathy def: "Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome. xref: UMLS:C4024933 is_a: HP:0007108 ! Demyelinating peripheral neuropathy [Term] id: HP:0007132 name: Pallidal degeneration def: "Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:230302004 xref: UMLS:C0393577 is_a: HP:0002453 ! Abnormal globus pallidus morphology is_a: HP:0012157 ! Subcortical cerebral atrophy [Term] id: HP:0007133 name: Progressive peripheral neuropathy alt_id: HP:0007329 synonym: "Progressive polyneuropathy" EXACT [] xref: UMLS:C1859178 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007141 name: Sensorimotor neuropathy alt_id: HP:0007055 alt_id: HP:0007237 synonym: "Mixed polyneuropathy" EXACT [] synonym: "Nerve damage causing decreased feeling and movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Sensorimotor peripheral neuropathy" EXACT [] xref: UMLS:C1112256 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007146 name: Bilateral basal ganglia lesions xref: UMLS:C4024932 is_a: HP:0002134 ! Abnormal basal ganglia morphology [Term] id: HP:0007149 name: Distal upper limb amyotrophy def: "Muscular atrophy of distal arm muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Distal upper limb muscle atrophy" EXACT [] xref: UMLS:C4021581 is_a: HP:0003693 ! Distal amyotrophy is_a: HP:0009129 ! Upper limb amyotrophy [Term] id: HP:0007153 name: Progressive extrapyramidal movement disorder xref: UMLS:C2748610 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0007156 name: Asymmetric limb muscle stiffness def: "Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024931 is_a: HP:0003552 ! Muscle stiffness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0007158 name: Progressive extrapyramidal muscular rigidity def: "A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive extrapyramidal rigidity" EXACT [] xref: UMLS:C4021580 is_a: HP:0007076 ! Extrapyramidal muscular rigidity [Term] id: HP:0007159 name: Fluctuations in consciousness def: "Changes in one's level of awareness and responsiveness to their environment." [PMID:32374025, PMID:34557672] xref: UMLS:C1851959 is_a: HP:0004372 ! Reduced consciousness property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0007162 name: Diffuse demyelination of the cerebral white matter def: "A diffuse loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024930 is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0007163 name: obsolete Corticospinal tract disease in lower limbs is_obsolete: true consider: HP:0007256 [Term] id: HP:0007164 name: Slowed slurred speech synonym: "Slowed slurred speech" EXACT layperson [] xref: UMLS:C4024929 is_a: HP:0001350 ! Slurred speech [Term] id: HP:0007165 name: Periventricular heterotopia alt_id: HP:0002272 def: "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass." [https://orcid.org/0000-0002-0736-9199, PMID:22427329] comment: Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome. synonym: "Periventricular gray matter heterotopia" EXACT [] synonym: "Periventricular grey matter heterotopia" EXACT uk_spelling [] synonym: "Periventricular neuronal heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Subependymal gray matter heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Subependymal grey matter heterotopia" EXACT uk_spelling [] synonym: "Subependymal neuronal heterotopia" EXACT [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1849173 is_a: HP:0002282 ! Gray matter heterotopia [Term] id: HP:0007166 name: Paroxysmal dyskinesia def: "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks." [https://orcid.org/0000-0002-0736-9199] synonym: "Involuntary dystonic or choreiform movements" RELATED [] xref: UMLS:C0752210 xref: UMLS:C1836174 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0007178 name: Motor polyneuropathy alt_id: HP:0007278 synonym: "Peripheral motor neuropathy" EXACT [] xref: SNOMEDCT_US:85423005 xref: SNOMEDCT_US:95663000 xref: UMLS:C0235025 xref: UMLS:C0271683 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007179 name: Absent smooth pursuit def: "A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024928 is_a: HP:0007772 ! Impaired smooth pursuit [Term] id: HP:0007181 name: Interosseus muscle atrophy def: "Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones." [https://orcid.org/0000-0002-0736-9199] comment: This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles. synonym: "Interosseous muscular atrophy" EXACT [] xref: UMLS:C1846829 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0007182 name: Peripheral hypomyelination alt_id: HP:0007012 alt_id: HP:0007160 alt_id: HP:0007226 def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by nerve biopsy. xref: UMLS:C4024927 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0007183 name: Focal T2 hyperintense basal ganglia lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperintense lesions in the basal ganglia on MRI" RELATED [] xref: UMLS:C1865351 xref: UMLS:C4024926 is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity [Term] id: HP:0007185 name: Loss of consciousness def: "Loss of alertness and orientation to place and time." [PMID:32090418] synonym: "Fainting" EXACT layperson [] synonym: "Loss of consciousness" EXACT layperson [] synonym: "Passing out" EXACT layperson [] xref: SNOMEDCT_US:418107008 xref: SNOMEDCT_US:419045004 xref: UMLS:C0041657 is_a: HP:0004372 ! Reduced consciousness property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0007187 name: Focal lissencephaly def: "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex." [HPO_CONTRIBUTOR:KI_phemming] xref: UMLS:C1855230 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007188 name: Congenital facial diplegia def: "Facial diplegia (that is, bilateral facial palsy) with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital bilateral facial palsy" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital bilateral facial weakness" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0853240 is_a: HP:0001349 ! Facial diplegia [Term] id: HP:0007190 name: Neuronal loss in the cerebral cortex xref: UMLS:C1849485 is_a: HP:0002538 ! Abnormal cerebral cortex morphology [Term] id: HP:0007193 name: Bilateral tonic-clonic seizure on awakening alt_id: HP:0007008 def: "Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day)." [https://orcid.org/0000-0002-0736-9199, PMID:24395517, PMID:26948972] synonym: "Generalised tonic-clonic seizures on awakening" EXACT uk_spelling [] synonym: "Generalized tonic-clonic seizures on awakening" EXACT [] synonym: "Morning generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Morning generalized tonic-clonic seizures" EXACT layperson [] xref: UMLS:C1847165 is_a: HP:0002069 ! Bilateral tonic-clonic seizure [Term] id: HP:0007199 name: Progressive spastic paraparesis xref: UMLS:C0747251 is_a: HP:0002313 ! Spastic paraparesis [Term] id: HP:0007200 name: Episodic hypersomnia def: "Recurrent episodes of severe hypersomnia are accompanied by cognitive and behavioral disturbances, including confusion, derealization, apathy, compulsive eating, and hypersexuality." [PMID:36865656] synonym: "Idiopathic hypersomnia" EXACT [] synonym: "Recurrent hypersomnia" EXACT [] xref: UMLS:C4024925 is_a: HP:0100786 ! Hypersomnia property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X [Term] id: HP:0007201 name: Cerebral artery atherosclerosis def: "The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain." [https://orcid.org/0000-0002-0736-9199, PMID:31420554] synonym: "Plaque build-up in cerebral artery" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024924 is_a: HP:0002621 ! Atherosclerosis is_a: HP:0009145 ! Abnormal cerebral artery morphology [Term] id: HP:0007204 name: Diffuse white matter abnormalities comment: This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. xref: UMLS:C4024923 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0007206 name: Hemimegalencephaly def: "Enlargement of all or parts of one cerebral hemisphere." [https://orcid.org/0000-0002-0736-9199, PMID:17416820] comment: The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. xref: SNOMEDCT_US:253170008 xref: UMLS:C0431391 is_a: HP:0001355 ! Megalencephaly [Term] id: HP:0007207 name: Photosensitive tonic-clonic seizure def: "Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light." [https://orcid.org/0000-0002-0736-9199, PMID:28276060] synonym: "Photically induced tonic-clonic seizure" EXACT [] synonym: "Photosensitive tonic-clonic seizures" EXACT plural_form [] synonym: "Seizures, tonic-clonic, photosensitive" EXACT [] xref: UMLS:C1846131 is_a: HP:0020216 ! Visually-induced seizure is_a: HP:0025190 ! Bilateral tonic-clonic seizure with generalized onset [Term] id: HP:0007208 name: Irregular myelin loops def: "Presence of irregular redundant loops of focally folded myelin in a peripheral nerve." [PMID:20301641, PMID:8817346] xref: UMLS:C4024922 is_a: HP:0030173 ! Peripheral hypermyelination [Term] id: HP:0007209 name: Facial paralysis alt_id: HP:0007358 def: "Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199] comment: Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment. subset: hposlim_core synonym: "Facial paralysis" EXACT layperson [] synonym: "Facial paresis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:280816001 xref: SNOMEDCT_US:95666008 xref: UMLS:C0015469 xref: UMLS:C0427055 is_a: HP:0001293 ! Cranial nerve compression is_a: HP:0003470 ! Paralysis is_a: HP:0030319 ! Weakness of facial musculature [Term] id: HP:0007210 name: Lower limb amyotrophy def: "Muscular atrophy affecting the lower limb." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024921 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007215 name: Periodic hyperkalemic paralysis def: "Episodes of muscle weakness associated with elevated levels of potassium in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperkalemic periodic paralysis" EXACT [] xref: SNOMEDCT_US:304737009 xref: UMLS:C0238357 is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0007220 name: Demyelinating motor neuropathy def: "Demyelination of peripheral motor nerves." [https://orcid.org/0000-0002-0736-9199] comment: Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies. xref: UMLS:C1969462 is_a: HP:0007108 ! Demyelinating peripheral neuropathy is_a: HP:0007178 ! Motor polyneuropathy [Term] id: HP:0007221 name: Progressive truncal ataxia xref: UMLS:C1849143 is_a: HP:0002078 ! Truncal ataxia [Term] id: HP:0007227 name: obsolete Macrogyria is_obsolete: true replaced_by: HP:0001302 [Term] id: HP:0007229 name: Intracerebral periventricular calcifications def: "The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1837246 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007230 name: Decreased distal sensory nerve action potential def: "A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024920 is_a: HP:0007078 ! Decreased amplitude of sensory action potentials [Term] id: HP:0007232 name: Spinocerebellar tract disease in lower limbs xref: UMLS:C4024919 is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0007233 name: Clusters of axonal regeneration def: "Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration." [HPO_CONTRIBUTOR:jbaets] xref: UMLS:C1843169 is_a: HP:0003450 ! Axonal regeneration [Term] id: HP:0007236 name: Recurrent subcortical infarcts xref: UMLS:C4024918 is_a: HP:0010993 ! Abnormal cerebral subcortex morphology [Term] id: HP:0007238 name: Nonarteriosclerotic cerebral calcification synonym: "Cerebral calcification, nonarteriosclerotic" EXACT [] xref: UMLS:C4021579 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007239 name: Congenital encephalopathy xref: UMLS:C4024917 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007240 name: Progressive gait ataxia alt_id: HP:0002142 def: "A type of gait ataxia displaying progression of clinical severity." [https://orcid.org/0000-0002-0736-9199] synonym: "Gait ataxia, progressive" EXACT [] xref: UMLS:C1843885 is_a: HP:0002066 ! Gait ataxia [Term] id: HP:0007249 name: Decreased number of small peripheral myelinated nerve fibers synonym: "Decreased number of small peripheral myelinated nerve fibres" EXACT uk_spelling [] xref: UMLS:C4024916 is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers [Term] id: HP:0007250 name: Recurrent external ophthalmoplegia def: "Alternating and recurrent weakness of the external ocular muscles." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024915 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007256 name: Abnormal pyramidal sign alt_id: HP:0003488 alt_id: HP:0007161 alt_id: HP:0007225 alt_id: HP:0007275 alt_id: HP:0007324 alt_id: HP:0007347 def: "Functional neurological abnormalities related to dysfunction of the pyramidal tract." [https://orcid.org/0000-0002-0736-9199] comment: pyramidal signs are a subset of long-tract signs that specifically indicate corticospinal tract involvement. The more general term long-tract sign refers to a clinical findings related to damage to the long white matter tracts of the CNS, particularly the corticospinal tract, dorsal columns, and the spinothalamic tract. synonym: "Corticospinal signs" EXACT [] synonym: "Pyramidal signs" EXACT [] synonym: "Pyramidal tract signs" EXACT [] xref: SNOMEDCT_US:14648003 xref: UMLS:C0234132 is_a: HP:0002423 ! Long-tract sign is_a: HP:0002493 ! Upper motor neuron dysfunction [Term] id: HP:0007258 name: Severe demyelination of the white matter def: "A severe loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856001 is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0007260 name: Type II lissencephaly alt_id: HP:0006853 def: "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers." [https://orcid.org/0000-0002-0736-9199] synonym: "Cobblestone lissencephaly" EXACT [] synonym: "Lissencephaly type II" EXACT [] synonym: "Type 2 lissencephaly" EXACT [] xref: SNOMEDCT_US:253149002 xref: UMLS:C0431376 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007262 name: Symmetric peripheral demyelination def: "A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024914 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0007263 name: Spinocerebellar atrophy def: "Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:129609000 xref: UMLS:C0087012 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007265 name: Absent mesencephalon def: "Agenesis of the midbrain." [HPO_CONTRIBUTOR:KI_phemming] comment: Midbrain and mesencephalon are synonymous. xref: UMLS:C4024913 is_a: HP:0034258 ! Aplasia/Hypoplasia of the midbrain [Term] id: HP:0007266 name: Cerebral dysmyelination alt_id: HP:0007134 alt_id: HP:0007217 def: "Defective structure and function of myelin sheaths of the white matter of the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Areas of dysmyelination on MRI" EXACT [] synonym: "Dysmyelination of the brain" EXACT [] synonym: "White matter dysmyelination/demyelination" RELATED [] xref: UMLS:C1854885 xref: UMLS:C4020810 is_a: HP:0002500 ! Abnormal cerebral white matter morphology is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0007267 name: Chronic axonal neuropathy alt_id: HP:0003446 def: "An abnormality characterized by chronic impairment of the normal functioning of the axons." [https://orcid.org/0000-0002-0736-9199] comment: This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves. synonym: "Chronic sural axonal neuropathy" EXACT [] xref: UMLS:C4021578 is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0007268 name: Aprosencephaly xref: SNOMEDCT_US:277922001 xref: UMLS:C0431349 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0007269 name: Spinal muscular atrophy def: "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [https://orcid.org/0000-0002-0736-9199] synonym: "Spinal muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Spinal muscle wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:5262007 xref: UMLS:C0026847 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007270 name: Atypical absence seizure def: "An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. synonym: "Atypical absence" EXACT [] synonym: "Atypical absence seizures" EXACT plural_form [] synonym: "Atypical petit mal seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:23374007 xref: UMLS:C0595948 is_a: HP:0002121 ! Generalized non-motor (absence) seizure [Term] id: HP:0007271 name: Occipital myelomeningocele xref: UMLS:C4024912 is_a: HP:0002436 ! Occipital meningocele [Term] id: HP:0007272 name: Progressive psychomotor deterioration alt_id: HP:0006856 synonym: "Progressive mental and motor deterioration" EXACT [] xref: UMLS:C1856565 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007274 name: Recurrent bacterial meningitis def: "An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1845604 is_a: HP:0006946 ! Recurrent meningitis [Term] id: HP:0007277 name: Paucity of anterior horn motor neurons xref: UMLS:C2673351 is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0007280 name: Acute infantile spinal muscular atrophy xref: UMLS:C4024911 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0007281 name: Developmental stagnation alt_id: HP:0007130 alt_id: HP:0007198 def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills." [https://orcid.org/0000-0002-0736-9199] synonym: "Developmental arrest" EXACT [] xref: UMLS:C1848980 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0007285 name: Facial palsy secondary to cranial hyperostosis def: "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial palsy caused by enlargement of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial palsy caused by excessive growth of facial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial palsy caused by overgrowth of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial palsy secondary to hypertrophy of cranial bones" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849260 is_a: HP:0005465 ! Facial hyperostosis [Term] id: HP:0007286 name: Horizontal jerk nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other." [https://orcid.org/0000-0002-0736-9199] comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. xref: UMLS:C4024910 is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007289 name: Limb fasciculations alt_id: HP:0007049 def: "Fasciculations affecting the musculature of the arms and legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Limb fasciculation" EXACT [] xref: UMLS:C1854657 is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0007291 name: Posterior fossa cyst alt_id: HP:0006985 def: "A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle." [https://orcid.org/0000-0002-0736-9199, PMID:2816648] xref: UMLS:C1857353 is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0007293 name: Anterior sacral meningocele xref: UMLS:C1867776 is_a: HP:0005765 ! Sacral meningocele [Term] id: HP:0007295 name: Chaotic rapid conjugate ocular movements xref: UMLS:C4024909 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007299 name: Dysfunction of lateral corticospinal tracts xref: UMLS:C1832671 is_a: HP:0002493 ! Upper motor neuron dysfunction [Term] id: HP:0007301 name: Oromotor apraxia def: "Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control." [PMID:26275812] comment: Affected individuals may experience difficulty in performing movements involving the muscles that also are involved in speech (e.g., clicking the tongue, licking the lips, whistling). synonym: "Oral-motor apraxia" EXACT [] xref: UMLS:C4021845 is_a: HP:0002186 ! Apraxia [Term] id: HP:0007302 name: Bipolar affective disorder alt_id: HP:0000755 def: "Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods." [] synonym: "Bipolar depression" EXACT [] synonym: "Bipolar disorder" EXACT layperson [] synonym: "Manic depressive" EXACT [] xref: SNOMEDCT_US:13746004 xref: UMLS:C0005586 is_a: HP:0025783 ! Diagnostic behavioral phenotype property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0007305 name: CNS demyelination alt_id: HP:0007222 def: "A loss of myelin from nerve fibers in the central nervous system." [https://orcid.org/0000-0002-0736-9199] comment: CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes. synonym: "Demyelination in central white matter" EXACT [] xref: UMLS:C0338474 is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0007307 name: Rapid neurologic deterioration xref: UMLS:C4024908 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007308 name: Extrapyramidal dyskinesia xref: UMLS:C1848528 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0007311 name: Short stepped shuffling gait synonym: "Short stepped shuffling walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3805715 is_a: HP:0002362 ! Shuffling gait [Term] id: HP:0007313 name: Cerebral degeneration alt_id: HP:0006874 synonym: "Neuroaxonal degeneration in the brain" EXACT [] xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0007314 name: obsolete White matter neuronal heterotopia is_obsolete: true replaced_by: HP:0002282 [Term] id: HP:0007316 name: obsolete Involuntary writhing movements is_obsolete: true replaced_by: HP:0002305 [Term] id: HP:0007321 name: Deep white matter hypodensities def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter." [https://orcid.org/0000-0002-0736-9199, PMID:16239634] comment: See also definition for "Periventricular white matter hypodensities". These two entities are in contra-distinction to each other. synonym: "Deep cerebral white matter hypodensities" EXACT [] xref: UMLS:C1856979 is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0007325 name: Generalized dystonia def: "A type of dystonia that affects all or most of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised dystonia" EXACT uk_spelling [] xref: SNOMEDCT_US:425492002 xref: UMLS:C1848954 is_a: HP:0001332 ! Dystonia [Term] id: HP:0007326 name: Progressive choreoathetosis xref: UMLS:C1860216 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007327 name: Mixed demyelinating and axonal polyneuropathy xref: UMLS:C4024907 is_a: HP:0009830 ! Peripheral neuropathy is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007328 name: Impaired pain sensation alt_id: HP:0002713 def: "Reduced ability to perceive painful stimuli." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased pain sensation" EXACT layperson [] synonym: "Decreased pinprick sensation" EXACT [] synonym: "Impaired pain sensation" EXACT layperson [] xref: UMLS:C1837522 is_a: HP:0010832 ! Abnormality of pain sensation [Term] id: HP:0007330 name: Frontoethmoidal encephalocele alt_id: HP:0004478 def: "A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital." [PMID:25593873] synonym: "Frontal encephalocele" EXACT [] xref: SNOMEDCT_US:253103006 xref: UMLS:C0431289 is_a: HP:0007035 ! Anterior encephalocele [Term] id: HP:0007332 name: Focal hemifacial clonic seizure def: "Focal seizure characterized at onset by clonic movements affecting half of the face." [HPO_CONTRIBUTOR:jalbers, PMID:28276060] comment: A seizure type typically occurring in childhood epilepsy with centrotemporal spikes. synonym: "Hemifacial seizures" EXACT plural_form [] xref: UMLS:C4024906 is_a: HP:0002266 ! Focal clonic seizure [Term] id: HP:0007333 name: Hypoplasia of the frontal lobes alt_id: HP:0002424 def: "Underdevelopment of the frontal lobe of the cerebrum." [https://orcid.org/0009-0006-4530-3154] synonym: "Frontal lobe hypoplasia" EXACT [] synonym: "Hypoplastic frontal lobes" EXACT [] synonym: "Underdeveloped frontal lobe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849172 is_a: HP:0002538 ! Abnormal cerebral cortex morphology is_a: HP:0006872 ! Cerebral hypoplasia [Term] id: HP:0007334 name: Bilateral tonic-clonic seizure with focal onset alt_id: HP:0002602 def: "A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276064] comment: The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset. synonym: "Focal seizure with secondary generalisation" EXACT uk_spelling [] synonym: "Focal seizure with secondary generalization" EXACT [] synonym: "Focal to bilateral tonic-clonic seizure" EXACT [] synonym: "Generalised tonic-clonic seizure with focal onset" EXACT [] synonym: "Generalised tonic-clonic seizure with partial onset" EXACT [] synonym: "Generalised tonic-clonic seizures with focal onset" EXACT uk_spelling [] synonym: "Generalized tonic-clonic seizure with focal onset" EXACT [] synonym: "Generalized tonic-clonic seizure with partial onset" EXACT [] synonym: "Generalized tonic-clonic seizures with focal onset" EXACT plural_form [] synonym: "Partial seizure with secondary generalisation" EXACT uk_spelling [] synonym: "Partial seizure with secondary generalization" EXACT [] synonym: "Partial seizures with secondary generalisation" EXACT uk_spelling [] synonym: "Partial seizures with secondary generalization" EXACT [] synonym: "Secondarily generalised tonic-clonic seizure" EXACT uk_spelling [] synonym: "Secondarily generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Secondarily generalized tonic-clonic seizure" EXACT [] synonym: "Secondarily generalized tonic-clonic seizures" EXACT [] synonym: "Secondary generalised tonic clonic seizures" EXACT uk_spelling [] synonym: "Secondary generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Secondary generalized tonic clonic seizures" EXACT [] synonym: "Secondary generalized tonic-clonic seizures" EXACT [] xref: UMLS:C0877017 is_a: HP:0002069 ! Bilateral tonic-clonic seizure is_a: HP:0007359 ! Focal-onset seizure [Term] id: HP:0007335 name: Recurrent encephalopathy alt_id: HP:0006947 def: "Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent cerebellar and extrapyramidal encephalopathy" EXACT [] xref: UMLS:C1850719 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007338 name: Hypermetric saccades def: "A saccade that overshoots the target with the dynamic saccade." [https://orcid.org/0000-0002-0736-9199, PMID:572501] xref: SNOMEDCT_US:246769000 xref: UMLS:C0423083 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0007340 name: Lower limb muscle weakness alt_id: HP:0002065 alt_id: HP:0002477 alt_id: HP:0009047 def: "Weakness of the muscles of the legs." [https://orcid.org/0000-0002-0736-9199] comment: Inability to perform rapid, alternating movements. synonym: "Leg weakness" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Lower extremity weakness" EXACT layperson [] synonym: "Lower limb muscle weakness" EXACT layperson [] synonym: "Lower limb weakness" EXACT layperson [] synonym: "Muscle weakness in lower limbs" EXACT layperson [] xref: SNOMEDCT_US:249945007 xref: UMLS:C0427068 xref: UMLS:C1836296 is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0007341 name: Diffuse swelling of cerebral white matter xref: UMLS:C1858855 is_a: HP:0002500 ! Abnormal cerebral white matter morphology [Term] id: HP:0007343 name: Abnormal morphology of the limbic system def: "Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]." [] synonym: "Limbic malformation" EXACT [] xref: UMLS:C1863392 is_a: HP:0100547 ! Abnormal forebrain morphology [Term] id: HP:0007344 name: Atrophy/Degeneration involving the spinal cord synonym: "Atrophic and degenerative changes in the spinal cord" EXACT [] xref: UMLS:C1843858 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007346 name: Subcortical white matter calcifications xref: UMLS:C1851430 is_a: HP:0002500 ! Abnormal cerebral white matter morphology is_a: HP:0002514 ! Cerebral calcification property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0007348 name: Hypoplasia of the pyramidal tract xref: UMLS:C1850871 is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract [Term] id: HP:0007350 name: Upper limb hyperreflexia def: "Increased intensity of the a reflex in the arm." [] synonym: "Hyperreflexia in upper limbs" EXACT [] xref: UMLS:C1843175 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007351 name: Upper limb postural tremor alt_id: HP:0007297 def: "A type of tremors that is triggered by holding an arm in a fixed position." [https://orcid.org/0000-0002-0736-9199] synonym: "Postural tremor of arms" EXACT [] xref: UMLS:C1867138 is_a: HP:0002174 ! Postural tremor is_a: HP:0200085 ! Limb tremor [Term] id: HP:0007352 name: Cerebellar calcifications xref: UMLS:C1851431 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0007354 name: Amyotrophic lateral sclerosis synonym: "Lou Gehrig's disease" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:86044005 xref: UMLS:C0002736 is_a: HP:0007373 ! Motor neuron atrophy [Term] id: HP:0007359 name: Focal-onset seizure alt_id: HP:0002358 alt_id: HP:0040168 def: "A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] comment: In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. synonym: "Focal onset seizure" EXACT [] synonym: "Focal seizure" EXACT [] synonym: "Focal seizures" EXACT plural_form [] synonym: "Focal-onset seizures" EXACT plural_form [] synonym: "Partial seizure" EXACT [] synonym: "Partial seizures" EXACT plural_form [] synonym: "Seizure affecting one half of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:29753000 xref: UMLS:C0751495 is_a: HP:0001250 ! Seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:27:00Z [Term] id: HP:0007360 name: Aplasia/Hypoplasia of the cerebellum alt_id: HP:0006857 alt_id: HP:0007368 synonym: "Absent/small cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Atrophy/Degeneration affecting the cerebellum" EXACT [] synonym: "Atrophy/Hypoplasia of the cerebellum" EXACT [] synonym: "Cerebellar hypoplasia/atrophy" EXACT [] xref: UMLS:C3279222 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:30:00Z [Term] id: HP:0007361 name: Abnormal pons morphology def: "A structural abnormality of the pons." [https://orcid.org/0000-0002-0736-9199] comment: The pons is the portion of the brainstem superior to the medulla oblongata. synonym: "Abnormality of the pons" EXACT [] xref: UMLS:C4024905 is_a: HP:0002363 ! Abnormal brainstem morphology is_a: HP:0011283 ! Abnormal metencephalon morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:32:00Z [Term] id: HP:0007362 name: Aplasia/Hypoplasia of the brainstem synonym: "Absent/small brainstem" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped brainstem" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024904 is_a: HP:0002363 ! Abnormal brainstem morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:33:00Z [Term] id: HP:0007363 name: Aplasia/Hypoplasia of the pyramidal tract xref: UMLS:C4024903 is_a: HP:0002062 ! Abnormal pyramidal tract morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:41:00Z [Term] id: HP:0007364 name: Aplasia/Hypoplasia of the cerebrum synonym: "Absent/small cerebrum" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped cerebrum" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024902 is_a: HP:0002060 ! Abnormal cerebral morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:43:00Z [Term] id: HP:0007365 name: Aplasia/Hypoplasia involving the corticospinal tracts xref: UMLS:C4024901 is_a: HP:0002492 ! Abnormal corticospinal tract morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-31T05:45:00Z [Term] id: HP:0007366 name: Atrophy/Degeneration affecting the brainstem synonym: "Brainstem atrophy" EXACT [] xref: UMLS:C4024900 is_a: HP:0002363 ! Abnormal brainstem morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:22:00Z [Term] id: HP:0007367 name: Atrophy/Degeneration affecting the central nervous system synonym: "Atrophy/Degeneration affecting the CNS" EXACT abbreviation [] xref: UMLS:C4024899 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:23:00Z [Term] id: HP:0007369 name: Atrophy/Degeneration affecting the cerebrum def: "The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024898 is_a: HP:0002060 ! Abnormal cerebral morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012444 ! Brain atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:28:00Z [Term] id: HP:0007370 name: Aplasia/Hypoplasia of the corpus callosum alt_id: HP:0007003 alt_id: HP:0007060 alt_id: HP:0007061 alt_id: HP:0007137 def: "Absence or underdevelopment of the corpus callosum." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic corpus callosum" EXACT [] synonym: "Agenesis/hypoplastic corpus callosum" EXACT [] synonym: "Complete or partial absence of the corpus callosum" EXACT [] synonym: "Hypoplasia or absence of the corpus callosum" EXACT [] synonym: "Hypoplastic or absent corpus callosum" EXACT [] xref: UMLS:C1861866 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum is_a: HP:0033725 ! Thin corpus callosum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:35:00Z [Term] id: HP:0007371 name: Corpus callosum atrophy alt_id: HP:0005712 def: "The presence of atrophy (wasting) of the corpus callosum." [https://orcid.org/0009-0006-4530-3154] synonym: "Atrophic corpus callosum" EXACT [] synonym: "Atrophy of the corpus callosum" EXACT [] synonym: "Atrophy/Degeneration of the corpus callosum" EXACT [] xref: SNOMEDCT_US:253142006 xref: UMLS:C0431370 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum is_a: HP:0012762 ! Cerebral white matter atrophy is_a: HP:0033725 ! Thin corpus callosum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:36:00Z [Term] id: HP:0007372 name: Atrophy/Degeneration involving the corticospinal tracts xref: UMLS:C4024897 is_a: HP:0002492 ! Abnormal corticospinal tract morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:38:00Z [Term] id: HP:0007373 name: Motor neuron atrophy def: "Wasting involving the motor neuron." [https://orcid.org/0000-0002-0736-9199] synonym: "Motor neuron degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024896 is_a: HP:0002450 ! Abnormal motor neuron morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:39:00Z [Term] id: HP:0007374 name: Atrophy/Degeneration involving the caudate nucleus xref: UMLS:C4024895 is_a: HP:0002339 ! Abnormal caudate nucleus morphology is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:47:00Z [Term] id: HP:0007375 name: Abnormal septum pellucidum morphology def: "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the septum pellucidum" EXACT [] xref: UMLS:C4024894 is_a: HP:0002060 ! Abnormal cerebral morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:48:00Z [Term] id: HP:0007376 name: Abnormal choroid plexus morphology def: "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells." [https://orcid.org/0000-0002-0736-9199] comment: The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced. xref: UMLS:C4024893 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T10:52:00Z [Term] id: HP:0007377 name: Abnormality of somatosensory evoked potentials def: "An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of SSEPs" EXACT [] xref: UMLS:C4021577 is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology is_a: HP:0430106 ! Abnormal brain-evoked potentials property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T11:23:00Z [Term] id: HP:0007378 name: Neoplasm of the gastrointestinal tract def: "A tumor (abnormal growth of tissue) of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Gastrointestinal tract neoplasia" EXACT [] synonym: "Gastrointestinal tract neoplasm" EXACT [] synonym: "Gastrointestinal tract tumor" EXACT layperson [] synonym: "Gastrointestinal tract tumour" EXACT uk_spelling [] synonym: "GI tract tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "GI tract tumour" EXACT uk_spelling [] synonym: "Neoplasm of the GI tract" EXACT abbreviation [] xref: NCIT:C3262 xref: SNOMEDCT_US:126768004 xref: UMLS:C0017185 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0034930 ! Digestive system neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T11:55:00Z [Term] id: HP:0007379 name: Neoplasm of the genitourinary tract def: "A tumor (abnormal growth of tissue) of the genitourinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "Genitourinary tract neoplasia" RELATED [] synonym: "Genitourinary tract neoplasm" EXACT [] synonym: "Genitourinary tract tumors" EXACT layperson [] synonym: "Genitourinary tract tumours" EXACT uk_spelling [] synonym: "Neoplasm of the GU tract" EXACT abbreviation [] xref: NCIT:C3262 xref: UMLS:C0042065 xref: UMLS:C4020809 is_a: HP:0000119 ! Abnormality of the genitourinary system is_a: HP:0011793 ! Neoplasm by anatomical site property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-01T12:00:00Z [Term] id: HP:0007380 name: Facial telangiectasia alt_id: HP:0007520 def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial telangiectatic vessels" EXACT [] synonym: "Telangiectasia, facial" EXACT [] xref: UMLS:C0858684 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0007381 name: Congenital exfoliative erythroderma xref: UMLS:C4024892 is_a: HP:0001019 ! Erythroderma [Term] id: HP:0007383 name: Congenital localized absence of skin alt_id: HP:0007557 synonym: "Congenital localised absence of skin" EXACT uk_spelling [] synonym: "Congenital localised skin absence" EXACT uk_spelling [] synonym: "Congenital localized skin absence" EXACT [] xref: UMLS:C2673597 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007384 name: Aberrant melanosome maturation xref: UMLS:C1969516 is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0007385 name: Aplasia cutis congenita of scalp alt_id: HP:0000994 alt_id: HP:0007568 def: "A developmental defect resulting in the congenital absence of skin on the scalp." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Defect of scalp" BROAD [] synonym: "Focal absence of scalp tissue" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Scalp aplasia cutis congenita" EXACT [] synonym: "Scalp defect" BROAD [] synonym: "Solitary scalp defect" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855698 xref: UMLS:C4048801 xref: UMLS:C4072857 xref: UMLS:C4072858 is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007387 name: Hypoplastic sweat glands def: "Underdevelopment of the sweat glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped sweat glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1832455 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands [Term] id: HP:0007390 name: Hyperkeratosis with erythema xref: UMLS:C4024891 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007392 name: Excessive wrinkled skin synonym: "Excessive wrinkled skin" EXACT layperson [] xref: UMLS:C4024890 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0007394 name: Prominent superficial blood vessels alt_id: HP:0007577 synonym: "Prominent superficial blood vessels" EXACT layperson [] synonym: "Prominent superficial vasculature" EXACT layperson [] xref: UMLS:C1848771 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0007395 name: Postnatal-onset ichthyosiform erythroderma def: "A type of ichthyosiform erythroderma with postnatal onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Postnatal-onset ichthyosis" EXACT [] xref: UMLS:C4021576 is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007396 name: Early cutaneous photosensitivity def: "Photosensitivity of the skin occurring early in life." [https://orcid.org/0000-0002-0736-9199] synonym: "Sun sensitivity occurring early in life" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024889 is_a: HP:0000992 ! Cutaneous photosensitivity [Term] id: HP:0007397 name: Axillary apocrine gland hypoplasia def: "Developmental hypoplasia of the apocrine sweat glands in the region of the axilla." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1867003 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands [Term] id: HP:0007398 name: Asymmetric, linear skin defects xref: UMLS:C4024888 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007400 name: Irregular hyperpigmentation xref: UMLS:C1860236 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007401 name: Macular atrophy def: "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [https://orcid.org/0000-0003-0986-4123] xref: SNOMEDCT_US:238828009 xref: UMLS:C1288283 is_a: HP:0000608 ! Macular degeneration is_a: HP:0001105 ! Retinal atrophy [Term] id: HP:0007402 name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines xref: UMLS:C4024886 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007403 name: Hypertrophy of skin of soles synonym: "Thick skin of soles" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1867617 is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007404 name: Nonepidermolytic palmoplantar hyperkeratosis def: "Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis." [PMID:7528239] synonym: "Nonepidermolytic palmoplantar keratoderma" EXACT [] xref: UMLS:C1833030 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007406 name: Hyperpigmentation of eyelids synonym: "Brown eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dark eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pigmentation of eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:41115008 xref: UMLS:C0155211 xref: UMLS:C0854438 xref: UMLS:C4280440 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007407 name: Excessive skin wrinkling on dorsum of hands and fingers synonym: "Excessive skin wrinkling on back of hands and fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837467 is_a: HP:0007392 ! Excessive wrinkled skin [Term] id: HP:0007408 name: Tegumentary leishmaniasis susceptibility def: "Increased susceptibility to infection by the protozan parasite of the genus Leishmania." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2748501 is_a: HP:0005386 ! Recurrent protozoan infections [Term] id: HP:0007409 name: obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs is_obsolete: true replaced_by: HP:0003758 [Term] id: HP:0007410 name: Palmoplantar hyperhidrosis alt_id: HP:0007624 def: "An abnormally increased perspiration on palms and soles." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive sweating of palms and soles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperhidrosis of palms and soles" EXACT [] xref: SNOMEDCT_US:403375001 xref: UMLS:C1274743 is_a: HP:0006089 ! Palmar hyperhidrosis is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007411 name: Hypoplastic-absent sebaceous glands xref: UMLS:C1844617 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007412 name: Macular hyperpigmented dermopathy xref: UMLS:C4024885 is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0007413 name: Nevus flammeus of the forehead def: "Naevus flammeus localized in the skin of the forehead." [https://orcid.org/0009-0006-4530-3154] synonym: "Port-wine stain on forehead" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1848850 is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007414 name: Neonatal wrinkled skin of hands and feet synonym: "Wrinkled skin of hands and feet in newborn" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024884 is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0007417 name: Discoid lupus rash alt_id: HP:0000981 def: "Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy." [] comment: This lesion is characteristic of discoid lupus erythematosus, but similar lesions may be observed in other diseases. synonym: "Discoid lupus erythematosus" EXACT [] xref: SNOMEDCT_US:200938002 xref: SNOMEDCT_US:238927000 xref: UMLS:C0024138 is_a: HP:0000988 ! Skin rash property_value: terms:creator https://orcid.org/0000-0002-5316-1399 [Term] id: HP:0007418 name: Alopecia totalis def: "Loss of all scalp hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Total alopecia" RELATED [] xref: SNOMEDCT_US:19754005 xref: UMLS:C0263504 is_a: HP:0001596 ! Alopecia [Term] id: HP:0007420 name: Spontaneous hematomas def: "Spontaneous development of hematomas (hematoma) or bruises without significant trauma." [https://orcid.org/0000-0003-2945-4463] xref: UMLS:C1697453 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0007421 name: Telangiectases of the cheeks def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks." [https://orcid.org/0000-0002-0736-9199] synonym: "Telangiectasia on the cheeks" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3554587 is_a: HP:0007380 ! Facial telangiectasia [Term] id: HP:0007425 name: Hyperextensible skin of face synonym: "Hyperelastic face skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stretchable face skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024883 is_a: HP:0007458 ! Focal hyperextensible skin [Term] id: HP:0007427 name: Reticulated skin pigmentation synonym: "Reticular pigmentation pattern" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Reticulate skin pigmentation" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3279575 xref: UMLS:C3279601 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007428 name: Telangiectasia of the oral mucosa def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasia of the oral mucosa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Angioectasia of the oral mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of the oral mucosa" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of the oral mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024882 is_a: HP:0000228 ! Oral cavity telangiectasia [Term] id: HP:0007429 name: Few cafe-au-lait spots def: "The presence of two to five cafe-au-lait macules." [https://orcid.org/0000-0003-1773-4011] xref: UMLS:C4024881 is_a: HP:0000957 ! Cafe-au-lait spot [Term] id: HP:0007430 name: Generalized edema alt_id: HP:0007575 def: "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised oedema" EXACT uk_spelling [] synonym: "Generalised tissue oedema" EXACT uk_spelling [] synonym: "Generalized tissue edema" EXACT [] xref: SNOMEDCT_US:271808008 xref: UMLS:C1850534 is_a: HP:0000969 ! Edema [Term] id: HP:0007431 name: Congenital ichthyosiform erythroderma alt_id: HP:0007478 alt_id: HP:0007484 def: "An ichthyosiform abnormality of the skin with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital ichthyosis" EXACT [] synonym: "Ichthyosis, congenital" EXACT [] xref: SNOMEDCT_US:254156001 xref: SNOMEDCT_US:268282005 xref: UMLS:C0079583 is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007432 name: Intermittent generalized erythematous papular rash synonym: "Intermittent generalised erythematous papular rash" EXACT uk_spelling [] xref: UMLS:C2749995 is_a: HP:0200034 ! Papule [Term] id: HP:0007434 name: Plaque-like facial hemangioma def: "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology." [https://orcid.org/0000-0002-0736-9199] synonym: "Hemangioma, facial, plaque-like" EXACT [] xref: UMLS:C1847884 is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0007435 name: obsolete Diffuse palmoplantar keratoderma is_obsolete: true replaced_by: HP:0007447 [Term] id: HP:0007436 name: Hair-nail ectodermal dysplasia is_obsolete: true replaced_by: HP:0000968 [Term] id: HP:0007437 name: Multiple cutaneous leiomyomas def: "The presence of multiple leiomyomas of the skin." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3157 xref: UMLS:C1708350 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007438 name: Mottled pigmentation of the trunk and proximal extremities xref: UMLS:C1851551 is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007439 name: Generalized keratosis follicularis synonym: "Generalised keratosis follicularis" EXACT uk_spelling [] xref: UMLS:C4024879 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0007440 name: Generalized hyperpigmentation alt_id: HP:0007540 synonym: "Generalised hyperpigmentation" EXACT uk_spelling [] xref: UMLS:C4024878 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007441 name: Hyperpigmented/hypopigmented macules xref: UMLS:C4024877 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin is_a: HP:0012733 ! Macule [Term] id: HP:0007443 name: Partial albinism alt_id: HP:0001044 def: "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital partial albinism on face, trunk, or limbs" EXACT [] synonym: "Congenital partial leucoderma" EXACT [] synonym: "Partial absent skin pigmentation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:6479008 xref: SNOMEDCT_US:718122005 xref: UMLS:C0080024 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007446 name: Palmoplantar blistering def: "A type of blistering that affects the skin of the palms of the hands and the soles of the feet." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024876 is_a: HP:0033800 ! Blistering by anatomical location is_a: HP:0040211 ! Abnormal skin morphology of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007447 name: Diffuse palmoplantar hyperkeratosis alt_id: HP:0007435 def: "Diffuse abnormal thickening of the skin on the palms and soles." [PMID:17298101] comment: The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. synonym: "Diffuse palmoplantar keratoderma" EXACT [] synonym: "Hyperkeratosis, diffuse palmoplantar" EXACT [] xref: UMLS:C4021575 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007448 name: Hyperkeratosis over edematous areas xref: UMLS:C1835253 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0000969 ! Edema [Term] id: HP:0007449 name: Confetti-like hypopigmented macules xref: UMLS:C1851705 is_a: HP:0020073 ! Hypopigmented macule [Term] id: HP:0007450 name: Increased groin pigmentation with raindrop depigmentation xref: UMLS:C4024875 is_a: HP:0007400 ! Irregular hyperpigmentation is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007451 name: Ipsilateral lack of facial sweating def: "Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome." [PMID:29763176] xref: UMLS:C4024874 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0007452 name: Midface capillary hemangioma alt_id: HP:0007611 synonym: "Midfacial capillary hemangioma" EXACT [] xref: UMLS:C1849377 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007453 name: Flexural lichenification def: "Lichenification affecting primarily flexural areas of the skin." [https://orcid.org/0000-0002-0736-9199] comment: The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces. synonym: "Lichenification in skin folds" EXACT [] xref: UMLS:C4024873 is_a: HP:0100725 ! Lichenification [Term] id: HP:0007455 name: Adermatoglyphia xref: UMLS:C1852150 is_a: HP:0007477 ! Abnormal dermatoglyphics [Term] id: HP:0007456 name: Progressive reticulate hyperpigmentation xref: UMLS:C4024872 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007457 name: Prominent veins on trunk def: "Prominent thoracic and abdominal veins." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024871 is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0007458 name: Focal hyperextensible skin xref: UMLS:C4024870 is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007459 name: Generalized anhidrosis synonym: "Generalised anhidrosis" EXACT uk_spelling [] synonym: "Generalised anhydrosis" EXACT uk_spelling [] synonym: "Generalised inability to sweat" EXACT uk_spelling [] synonym: "Generalized anhydrosis" EXACT [] synonym: "Generalized inability to sweat" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024869 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0007460 name: Autoamputation of digits def: "The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology." [] xref: UMLS:C1852289 is_a: HP:0001218 ! Autoamputation is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0007461 name: Hemangiomatosis xref: SNOMEDCT_US:254785001 xref: SNOMEDCT_US:47669001 xref: UMLS:C1384590 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0007462 name: Bitot spots of the conjunctiva def: "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot." [https://orcid.org/0000-0002-0736-9199] comment: Bitot spots can be a feature of vitamin A deficiency. synonym: "Bitot's spots" RELATED [] xref: SNOMEDCT_US:246871006 xref: UMLS:C0423178 xref: UMLS:C4024868 is_a: HP:0000502 ! Abnormal conjunctiva morphology [Term] id: HP:0007464 name: Sparse facial hair def: "Reduced number or density of facial hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Sparse facial hair" EXACT layperson [] xref: UMLS:C2017869 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0007465 name: Honeycomb palmoplantar hyperkeratosis def: "Abnormal thickening of the skin on the palms and soles with an honeycomb pattern." [PMID:9326323] xref: UMLS:C1866032 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007466 name: Midfrontal capillary hemangioma xref: UMLS:C1859339 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007468 name: Perifollicular hyperkeratosis def: "Increased amount of keratin (visible as white scales) surrounding hair follicles." [PMID:23044575] subset: hposlim_core xref: UMLS:C4024867 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0031285 ! Abnormal perifollicular morphology [Term] id: HP:0007469 name: Palmoplantar cutis gyrata def: "Cutis gyrata of palms and soles." [https://orcid.org/0000-0002-0736-9199] synonym: "Cutis gyrata of palms and soles" EXACT [] xref: UMLS:C1851797 is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0040211 ! Abnormal skin morphology of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007470 name: Periarticular subcutaneous nodules def: "Subcutaneous nodules that are located in the vicinity of joints." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3806306 is_a: HP:0001482 ! Subcutaneous nodule [Term] id: HP:0007471 name: Axillary and groin hyperpigmentation and hypopigmentation xref: UMLS:C4024866 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007473 name: Crusting erythematous dermatitis xref: UMLS:C1868496 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0007475 name: Congenital bullous ichthyosiform erythroderma def: "An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet." [https://orcid.org/0000-0002-0736-9199] comment: Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature. synonym: "Bullous congenital ichthyosiform erythroderma" EXACT [] synonym: "Epidermolytic hyperkeratosis" EXACT [] xref: SNOMEDCT_US:239071005 xref: SNOMEDCT_US:254167000 xref: UMLS:C0079153 is_a: HP:0007431 ! Congenital ichthyosiform erythroderma [Term] id: HP:0007476 name: Anhidrotic ectodermal dysplasia xref: SNOMEDCT_US:7731005 xref: UMLS:C1706004 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007477 name: Abnormal dermatoglyphics alt_id: HP:0007422 def: "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal fingerprints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Dermatoglyphic abnormalities" EXACT [] xref: SNOMEDCT_US:83145004 xref: UMLS:C0432333 is_a: HP:0011356 ! Regional abnormality of skin [Term] id: HP:0007479 name: Congenital nonbullous ichthyosiform erythroderma alt_id: HP:0001021 alt_id: HP:0007388 alt_id: HP:0007512 alt_id: HP:0007619 alt_id: HP:0007625 def: "The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales." [https://orcid.org/0009-0006-4530-3154] synonym: "Collodion baby" EXACT [] synonym: "Congenital lamellar ichthyosis" EXACT [] synonym: "Congenital non-bullous ichthyosis" EXACT [] synonym: "Ichthyosis lammellaris" EXACT [] synonym: "Ichthyosis, congenital, nonblistering" EXACT [] synonym: "Nonbullous congenital ichthyosiform erythroderma" EXACT [] synonym: "Nonbullous congenital ichthyosis" EXACT [] xref: SNOMEDCT_US:205550003 xref: SNOMEDCT_US:267372009 xref: SNOMEDCT_US:268245001 xref: UMLS:C0079154 is_a: HP:0007431 ! Congenital ichthyosiform erythroderma [Term] id: HP:0007480 name: Decreased sweating due to autonomic dysfunction xref: UMLS:C1868527 is_a: HP:0000966 ! Hypohidrosis [Term] id: HP:0007481 name: Hyperpigmented nevi xref: UMLS:C0746889 is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0007482 name: Generalized papillary lesions synonym: "Generalised papillary lesions" EXACT uk_spelling [] xref: UMLS:C4024865 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007483 name: Depigmentation/hyperpigmentation of skin xref: UMLS:C4024864 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007485 name: Absence of subcutaneous fat alt_id: HP:0007519 def: "Lack of subcutaneous adipose tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent fat below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "General absence of subcutaneous fat" EXACT [] synonym: "Lack of fatty tissue below the skin" EXACT layperson [] xref: UMLS:C0241267 xref: UMLS:C4024855 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0007486 name: Cavernous hemangioma of the face xref: NCIT:C3086 xref: UMLS:C1332863 is_a: HP:0001048 ! Cavernous hemangioma [Term] id: HP:0007488 name: Diffuse skin atrophy xref: UMLS:C4024863 is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0007489 name: Diffuse telangiectasia alt_id: HP:0007405 def: "Telangiectases (small dilated blood vessels) with a diffuse localization." [https://orcid.org/0000-0002-0736-9199] synonym: "Diffuse telangiectases" EXACT [] synonym: "Telangiectases, random body distribution" EXACT [] xref: SNOMEDCT_US:125279001 xref: UMLS:C1265776 is_a: HP:0001009 ! Telangiectasia [Term] id: HP:0007490 name: Linear arrays of macular hyperkeratoses in flexural areas xref: UMLS:C1866031 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007494 name: Discrete 2 to 5-mm hyper- and hypopigmented macules xref: UMLS:C1851552 is_a: HP:0007441 ! Hyperpigmented/hypopigmented macules [Term] id: HP:0007495 name: Prematurely aged appearance alt_id: HP:0001599 synonym: "Precociously senile appearance" EXACT layperson [] synonym: "Prematurely aged appearance" EXACT layperson [] xref: UMLS:C1857656 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007497 name: Focal friction-related palmoplantar hyperkeratosis def: "Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperkeratosis, palmoplantar, focal friction-related" EXACT [] xref: UMLS:C1835654 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007499 name: Recurrent staphylococcal infections def: "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections." [https://orcid.org/0000-0001-7941-2961] synonym: "Recurrent staphylococcal infections" EXACT layperson [] xref: UMLS:C4024862 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0007500 name: Decreased number of sweat glands alt_id: HP:0007555 alt_id: HP:0007594 def: "The presence of fewer than normal sweat glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased sweat glands" EXACT layperson [] synonym: "Decreased sweat pores" EXACT layperson [] xref: UMLS:C4021574 is_a: HP:0000971 ! Abnormal sweat gland morphology [Term] id: HP:0007501 name: Streaks of hyperkeratosis along each finger onto the palm xref: UMLS:C4024861 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007502 name: Follicular hyperkeratosis alt_id: HP:0007600 def: "A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hyperkeratosis follicularis" EXACT [] xref: SNOMEDCT_US:238629004 xref: SNOMEDCT_US:402341008 xref: SNOMEDCT_US:81845009 xref: UMLS:C0334013 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007503 name: Generalized ichthyosis synonym: "Generalised ichthyosis" EXACT uk_spelling [] xref: UMLS:C3552528 is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007504 name: Diffuse slow skin atrophy xref: UMLS:C4024860 is_a: HP:0007488 ! Diffuse skin atrophy [Term] id: HP:0007505 name: Progressive hyperpigmentation xref: UMLS:C4024859 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007506 name: Congenital absence of skin of limbs synonym: "Missing skin on limbs since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024858 is_a: HP:0007383 ! Congenital localized absence of skin [Term] id: HP:0007508 name: Punctate palmar hyperkeratosis def: "Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands." [] xref: UMLS:C4024857 is_a: HP:0010765 ! Palmar hyperkeratosis [Term] id: HP:0007509 name: Patchy hypo- and hyperpigmentation alt_id: HP:0007487 synonym: "Patchy hypo- and hyper-pigmentation" EXACT [] xref: UMLS:C4021573 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007510 name: Focal dermal aplasia/hypoplasia xref: UMLS:C1834069 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007511 name: Mottled pigmentation of photoexposed areas xref: UMLS:C3151964 is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007513 name: Generalized hypopigmentation alt_id: HP:0000984 alt_id: HP:0007419 subset: hposlim_core synonym: "Fair skin" EXACT layperson [] synonym: "Generalised hypopigmentation" EXACT uk_spelling [] synonym: "Pale pigmentation" EXACT layperson [] xref: UMLS:C1849923 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007514 name: Edema of the dorsum of hands alt_id: HP:0007528 def: "An abnormal accumulation of fluid beneath the skin on the back of the hands." [https://orcid.org/0000-0002-0736-9199] synonym: "Edema of dorsum of hands" EXACT [] synonym: "Oedema of dorsum of hands" EXACT uk_spelling [] synonym: "Oedema of the dorsum of hands" EXACT uk_spelling [] xref: MEDDRA:10058204 "Oedema hands" xref: SNOMEDCT_US:443710002 xref: UMLS:C2732374 xref: UMLS:C2751873 is_a: HP:0000969 ! Edema [Term] id: HP:0007515 name: Hypoplastic pilosebaceous units xref: UMLS:C1832454 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007516 name: Redundant skin on fingers def: "Loose and sagging skin of the fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra skin on fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024856 is_a: HP:0001582 ! Redundant skin [Term] id: HP:0007517 name: Palmoplantar cutis laxa alt_id: HP:0001016 def: "Loose, wrinkled skin of hands and feet." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive wrinkled skin of palms and soles" EXACT layperson [] synonym: "Furrowed palms and soles" EXACT [] synonym: "Increased wrinkles of palms and soles" EXACT layperson [] synonym: "Wrinkled palms and soles" EXACT layperson [] synonym: "Wrinkled skin of hands and feet" EXACT layperson [] xref: UMLS:C1856714 is_a: HP:0000973 ! Cutis laxa is_a: HP:0007605 ! Excessive wrinkling of palmar skin is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007519 name: obsolete Lack of subcutaneous fatty tissue is_obsolete: true replaced_by: HP:0007485 [Term] id: HP:0007521 name: Irregular hyperpigmentation of back xref: UMLS:C4024854 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007522 name: Increased number of skin folds synonym: "Increased number of skin folds" EXACT layperson [] xref: UMLS:C4024853 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007524 name: Atypical neurofibromatosis xref: UMLS:C0220695 is_a: HP:0001067 ! Neurofibroma [Term] id: HP:0007525 name: Yellow subcutaneous tissue covered by thin, scaly skin xref: UMLS:C1850533 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007526 name: Hypopigmented skin patches on arms synonym: "Hypopigmented upper extremeity skin patches" EXACT [] synonym: "Patchy loss of skin color on arms" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Patchy loss of skin colour on arms" EXACT uk_spelling [] xref: UMLS:C4024852 is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0007529 name: Hidrotic ectodermal dysplasia xref: SNOMEDCT_US:54209007 xref: UMLS:C0162361 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007530 name: Punctate palmoplantar hyperkeratosis xref: UMLS:C4024851 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007534 name: Congenital posterior occipital alopecia def: "Loss of hair in the occipital region of the scalp with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024850 is_a: HP:0011361 ! Congenital abnormal hair pattern [Term] id: HP:0007535 name: Hypopigmented streaks xref: UMLS:C1866244 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007536 name: Aplasia cutis congenita of midline scalp vertex xref: UMLS:C4024849 is_a: HP:0004471 ! Aplasia cutis congenita over the scalp vertex [Term] id: HP:0007537 name: Severe photosensitivity def: "A severe degree of photosensitivity of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Severe sun sensitivity" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849186 is_a: HP:0000992 ! Cutaneous photosensitivity [Term] id: HP:0007541 name: Frontal cutaneous lipoma def: "Presence of a cutaneous lipoma on the forehead." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3192 xref: UMLS:C1850970 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0012032 ! Lipoma [Term] id: HP:0007542 name: Absent pigmentation of the ventral chest def: "Lack of skin pigmentation (coloring) of the anterior chest." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024848 is_a: HP:0040007 ! Absent pigmentation of chest [Term] id: HP:0007543 name: obsolete Epidermal hyperkeratosis synonym: "Increased thickness of skin epidermis" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1848773 is_obsolete: true replaced_by: HP:0000962 [Term] id: HP:0007544 name: Piebald skin depigmentation def: "Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules." [https://orcid.org/0000-0002-0736-9199] comment: Piebaldism (OMIM:172800) generally is characterized by both Piebald skin depigmentation and White forelock, which should be coded separately. synonym: "Piebaldism" EXACT [] xref: SNOMEDCT_US:6479008 xref: SNOMEDCT_US:718122005 xref: UMLS:C0080024 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007545 name: Congenital palmoplantar hyperkeratosis alt_id: HP:0007597 def: "Abnormal thickening of the skin on the palms and soles that is present at birth." [] synonym: "Congenital palmoplantar keratoderma" EXACT [] synonym: "Congenital palmoplantar keratodermia" EXACT [] synonym: "Congenital palmoplantar keratosis" EXACT [] xref: UMLS:C1855633 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007546 name: Linear hyperpigmentation xref: UMLS:C3278658 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007548 name: obsolete Palmoplantar keratosis with erythema and scale is_obsolete: true replaced_by: HP:0000972 [Term] id: HP:0007549 name: Desquamation of skin soon after birth xref: UMLS:C1842714 is_a: HP:0025723 ! Abnormal fetal skin morphology [Term] id: HP:0007550 name: Hypohidrosis or hyperhidrosis synonym: "Lack of sweating or excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021831 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0007552 name: Abnormal subcutaneous fat tissue distribution synonym: "Abnormal fat tissue distribution below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859347 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007553 name: Congenital symmetrical palmoplantar keratosis xref: UMLS:C1855459 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007554 name: Confetti hypopigmentation pattern of lower leg skin synonym: "Confetti hypopigmentation pattern of lower leg skin" EXACT layperson [] xref: UMLS:C4024847 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007556 name: Plantar hyperkeratosis alt_id: HP:0007382 alt_id: HP:0007445 def: "Hyperkeratosis affecting the sole of the foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Plantar hyperkeratoses" EXACT [] xref: UMLS:C1856954 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007559 name: Localized epidermolytic hyperkeratosis synonym: "Localised epidermolytic hyperkeratosis" EXACT uk_spelling [] xref: UMLS:C1721006 is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007560 name: Unusual dermatoglyphics xref: UMLS:C4024846 is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007561 name: obsolete Telangiectases in sun-exposed and nonexposed skin is_obsolete: true replaced_by: HP:0100585 [Term] id: HP:0007565 name: Multiple cafe-au-lait spots alt_id: HP:0007416 def: "The presence of six or more cafe-au-lait spots." [https://orcid.org/0000-0003-1773-4011] synonym: "Multiple birthmarks" BROAD layperson [] synonym: "Multiple flat light-brown marks on skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1861975 is_a: HP:0000957 ! Cafe-au-lait spot [Term] id: HP:0007566 name: Index finger dermatoglyphic radial loop xref: UMLS:C4024845 is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007569 name: Generalized seborrheic dermatitis def: "Seborrheic dermatitis that is not localized to any one particular region." [] synonym: "Generalised seborrheic dermatitis" EXACT uk_spelling [] synonym: "Generalised seborrheic eczema" EXACT uk_spelling [] synonym: "Generalized seborrheic eczema" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024844 is_a: HP:0001051 ! Seborrheic dermatitis [Term] id: HP:0007570 name: Hyperkeratosis lenticularis perstans def: "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa." [https://orcid.org/0000-0002-0736-9199] synonym: "Flegel disease" RELATED [] xref: SNOMEDCT_US:28488007 xref: UMLS:C0263420 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007572 name: Hyperpigmented streaks xref: UMLS:C1866245 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007573 name: Late onset atopic dermatitis def: "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis." [PMID:23984225, PMID:27904186] synonym: "Late onset baby eczema" RELATED layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024843 xref: UMLS:C4280439 is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007574 name: Generalized bronze hyperpigmentation synonym: "Bronze skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Generalised bronze hyperpigmentation" EXACT uk_spelling [] xref: UMLS:C2939074 xref: UMLS:C4024842 is_a: HP:0007440 ! Generalized hyperpigmentation [Term] id: HP:0007576 name: Palmar neurofibroma def: "A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand." [] synonym: "Palmar neurofibromas" EXACT plural_form [] xref: UMLS:C4024841 is_a: HP:0034761 ! Neurofibroma by anatomical location is_a: HP:0100871 ! Abnormal palm morphology [Term] id: HP:0007581 name: Mediosternal, longitudinal streak of hypopigmentation xref: UMLS:C4024840 is_a: HP:0007535 ! Hypopigmented streaks [Term] id: HP:0007583 name: Telangiectasia macularis eruptiva perstans xref: SNOMEDCT_US:8214000 xref: UMLS:C0263402 is_a: HP:0001009 ! Telangiectasia [Term] id: HP:0007585 name: Skin fragility with non-scarring blistering xref: UMLS:C1851562 is_a: HP:0001030 ! Fragile skin [Term] id: HP:0007586 name: Telangiectases producing 'marbled' skin xref: UMLS:C4024839 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0007587 name: Numerous pigmented freckles synonym: "Numerous pigmented freckles" EXACT layperson [] xref: UMLS:C1968565 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007588 name: Reticular hyperpigmentation alt_id: HP:0007579 def: "Increased pigmentation of the skin with a netlike (reticular) pattern." [https://orcid.org/0000-0002-0736-9199] synonym: "Reticulate hyperpigmentation" EXACT [] xref: UMLS:C1851972 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007589 name: Aplasia cutis congenita on trunk or limbs def: "A developmental defect resulting in the congenital absence of skin on the trunk or the limbs." [https://orcid.org/0000-0002-0736-9199] comment: In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs. xref: UMLS:C1863496 is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007590 name: Aplasia cutis congenita over posterior parietal area xref: UMLS:C1863495 is_a: HP:0004476 ! Aplasia cutis congenita over parietal area [Term] id: HP:0007592 name: Aplasia/Hypoplasia of the eccrine sweat glands def: "Absence or developmental hypoplasia of the eccrine sweat glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic-absent eccrine sweat glands" EXACT [] xref: UMLS:C1844618 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands [Term] id: HP:0007595 name: Redundant skin in infancy synonym: "Excess skin in infancy" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1835587 is_a: HP:0001582 ! Redundant skin [Term] id: HP:0007596 name: Painful subcutaneous lipomas def: "The presence of multiple subcutaneous lipoma that cause pain." [https://orcid.org/0000-0002-0736-9199] synonym: "Painful noncancerous fat tissue tumor under the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Painful noncancerous fat tissue tumour under the skin" EXACT uk_spelling [] xref: UMLS:C4024838 is_a: HP:0001031 ! Subcutaneous lipoma [Term] id: HP:0007597 name: obsolete Congenital palmoplantar keratodermia is_obsolete: true replaced_by: HP:0007545 [Term] id: HP:0007598 name: Bilateral single transverse palmar creases def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1862095 is_a: HP:0000954 ! Single transverse palmar crease [Term] id: HP:0007599 name: Generalized reticulate brown pigmentation synonym: "Generalised reticulate brown pigmentation" EXACT uk_spelling [] xref: UMLS:C4024836 is_a: HP:0007440 ! Generalized hyperpigmentation [Term] id: HP:0007601 name: Midline facial capillary hemangioma xref: UMLS:C1840310 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007602 name: Complex palmar dermatoglyphic pattern xref: UMLS:C4024835 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007603 name: Freckles in sun-exposed areas synonym: "Freckles in sun-exposed areas" EXACT layperson [] xref: UMLS:C1859923 is_a: HP:0005586 ! Hyperpigmentation in sun-exposed areas [Term] id: HP:0007605 name: Excessive wrinkling of palmar skin alt_id: HP:0007531 synonym: "Redundant, wrinkled skin of palms" EXACT layperson [] xref: UMLS:C4021572 is_a: HP:0007392 ! Excessive wrinkled skin is_a: HP:0040211 ! Abnormal skin morphology of the palm [Term] id: HP:0007606 name: Multiple cutaneous malignancies xref: UMLS:C4024834 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007607 name: Hypohidrotic ectodermal dysplasia xref: SNOMEDCT_US:239007005 xref: SNOMEDCT_US:7731005 xref: UMLS:C0162359 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007608 name: Abnormal palmar dermal ridges xref: UMLS:C4024833 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007609 name: Hypoproteinemic edema def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia)." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoproteinemic oedema" EXACT uk_spelling [] xref: UMLS:C4024832 is_a: HP:0000969 ! Edema [Term] id: HP:0007610 name: Blotching pigmentation of the skin xref: UMLS:C4024831 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007613 name: Spinous keratoses of palms and soles xref: UMLS:C4024830 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007616 name: Nevus flammeus nuchae def: "Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." [https://orcid.org/0009-0006-4530-3154] comment: The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area. synonym: "Angel's kiss" RELATED layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Port-wine stain on neck" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Salmon patch" RELATED layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Stork bite" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C0860468 xref: UMLS:C4024829 xref: UMLS:C4280438 is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007617 name: Fine, reticulate skin pigmentation xref: UMLS:C4024828 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007618 name: Subcutaneous calcification def: "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Skin calcification" EXACT layperson [] xref: SNOMEDCT_US:17141001 xref: UMLS:C0263625 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007620 name: Cutaneous leiomyoma alt_id: HP:0007507 def: "The presence of leiomyoma of the skin." [https://orcid.org/0000-0002-0736-9199] comment: Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin. synonym: "Cutaneous leiomyomas" EXACT [] synonym: "Cutaneous leiomyomata" EXACT [] xref: NCIT:C3157 xref: SNOMEDCT_US:254767008 xref: UMLS:C0346064 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007621 name: Telangiectasia of extensor surfaces xref: UMLS:C4024827 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0007623 name: Pigmentation anomalies of sun-exposed skin synonym: "Abnormal pigmentation in sun-exposed skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024826 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007626 name: Mandibular osteomyelitis alt_id: HP:0005869 def: "Osteomyelitis of the lower jaw." [] synonym: "Lower jaw bone infection" EXACT layperson [] synonym: "Osteomyelitis, especially of the mandible" EXACT [] xref: SNOMEDCT_US:109695005 xref: UMLS:C1290708 is_a: HP:0000277 ! Abnormal mandible morphology is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0007627 name: Mandibular condyle aplasia synonym: "Absence of the condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of the condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of the condylar process of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of condylar head of mandible" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of condylar neck of mandible" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of condylar process of mandible" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of the condylar process of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:235119009 xref: UMLS:C0399570 xref: UMLS:C4280429 xref: UMLS:C4280430 xref: UMLS:C4280431 xref: UMLS:C4280432 xref: UMLS:C4280433 xref: UMLS:C4280434 xref: UMLS:C4280435 xref: UMLS:C4280436 xref: UMLS:C4280437 is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007628 name: Mandibular condyle hypoplasia synonym: "Decreased size of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of mandibular condyle" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of mandibular condyle" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of subcondylar region of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic condylar process of mandible" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic mandibular condyle" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small condylar head of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Small condylar neck of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Small mandibular condyle" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:235120003 xref: UMLS:C0399572 xref: UMLS:C4280423 xref: UMLS:C4280424 xref: UMLS:C4280425 xref: UMLS:C4280426 xref: UMLS:C4280427 xref: UMLS:C4280428 is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007633 name: Bilateral microphthalmos alt_id: HP:0001143 alt_id: HP:0001585 def: "A developmental anomaly characterized by abnormal smallness of both eyes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormally small eyeball on both sides" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral nanophthalmos" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of eyeballs" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of globes of eyes" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Microphthalmia, bilateral" EXACT [] xref: UMLS:C1843496 xref: UMLS:C4280421 xref: UMLS:C4280422 is_a: HP:0000568 ! Microphthalmia [Term] id: HP:0007634 name: Nonarteritic anterior ischemic optic neuropathy def: "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates." [https://orcid.org/0000-0002-0736-9199, PMID:17698200] comment: Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased color vision, a relative afferent pupillary defect, and optic disc swelling. synonym: "Nonarteritic anterior ischaemic optic neuropathy" EXACT uk_spelling [] xref: UMLS:C1852242 is_a: HP:0001138 ! Optic neuropathy [Term] id: HP:0007641 name: Dyschromatopsia def: "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments." [HPO_CONTRIBUTOR:DDD_ncarter] synonym: "Color blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Colour blindness" EXACT uk_spelling [] xref: UMLS:C0858618 is_a: HP:0000551 ! Color vision defect [Term] id: HP:0007642 name: Congenital stationary night blindness alt_id: HP:0007684 alt_id: HP:0007861 alt_id: HP:0007953 def: "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset." [https://orcid.org/0000-0002-0736-9199] comment: Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors. synonym: "Congenital night blindness" EXACT [] synonym: "Night blindness since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Night blindness, congenital" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Night blindness, congenital stationary" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Night blindness, congenital stationary, complete" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Night blindness, stationary" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Static congenital hemeralopia" EXACT [] xref: SNOMEDCT_US:193687000 xref: SNOMEDCT_US:232061009 xref: UMLS:C0339535 xref: UMLS:C1306122 xref: UMLS:C3551052 xref: UMLS:C4048798 is_a: HP:0000556 ! Retinal dystrophy is_a: HP:0000662 ! Nyctalopia [Term] id: HP:0007643 name: Peripheral tractional retinal detachment def: "Tractional retinal detachment at the periphery of the retina." [] synonym: "Peripheral traction retinal detachment" EXACT [] synonym: "Tractional retinal detachment at the periphery of the retina" EXACT [] xref: UMLS:C4024825 is_a: HP:0007917 ! Tractional retinal detachment [Term] id: HP:0007646 name: Absent lower eyelashes def: "Lack of eyelashes on the lower lid." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent lower eyelashes" EXACT layperson [] synonym: "Agenesis of lower eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of lower eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Atrichia of lower eyelashes" EXACT [] synonym: "Failure of development of lower eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024824 is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007647 name: Congenital extraocular muscle anomaly def: "Congenital abnormality of the extraocular muscles." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024823 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007648 name: Punctate cataract def: "A type of cataract with punctate opacities of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Punctate lenticular opacities" RELATED [] xref: SNOMEDCT_US:40714009 xref: UMLS:C0271165 xref: UMLS:C1969675 is_a: HP:0010920 ! Zonular cataract [Term] id: HP:0007649 name: Congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium." [HPO_CONTRIBUTOR:DDD_ncarter] comment: This feature is found in around 3-5% of the population and is of no functional significance. xref: SNOMEDCT_US:232074003 xref: UMLS:C0339555 is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007650 name: Progressive ophthalmoplegia xref: UMLS:C2062713 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007651 name: Ectropion of lower eyelids synonym: "Everted lower eyelids" RELATED [] synonym: "Lower eyelid folded out" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lower eyelid turned out" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:95758006 xref: UMLS:C0521736 xref: UMLS:C4020808 is_a: HP:0000656 ! Ectropion [Term] id: HP:0007654 name: obsolete Retinal striation is_obsolete: true [Term] id: HP:0007655 name: Eversion of lateral third of lower eyelids xref: UMLS:C1835801 is_a: HP:0000656 ! Ectropion [Term] id: HP:0007656 name: Lacrimal gland aplasia def: "A congenital defect of development characterized by absence of the lacrimal gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent tear gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024822 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007657 name: Diffuse nuclear cataract def: "Opacity of the entire lens nucleus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024821 is_a: HP:0100018 ! Nuclear cataract [Term] id: HP:0007658 name: Large hyperpigmented retinal spots xref: UMLS:C4024820 is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007659 name: obsolete Decreased retinal pigmentation with dispersion is_obsolete: true consider: HP:0007703 [Term] id: HP:0007661 name: Abnormality of chorioretinal pigmentation xref: UMLS:C4024819 is_a: HP:0000532 ! Abnormal chorioretinal morphology [Term] id: HP:0007663 name: Reduced visual acuity alt_id: HP:0001091 alt_id: HP:0007693 alt_id: HP:0007739 alt_id: HP:0007969 alt_id: HP:0008008 synonym: "Decreased central vision" EXACT [] synonym: "Decreased clarity of vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Decreased visual acuity" EXACT [] synonym: "Poor visual acuity" EXACT [] xref: SNOMEDCT_US:13164000 xref: UMLS:C0234632 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0007665 name: Curly eyelashes def: "Abnormally curly or curved eyelashes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Curly eyelashes" EXACT layperson [] xref: UMLS:C2673670 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0007667 name: Peripheral cystoid retinal degeneration def: "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly." [https://orcid.org/0000-0003-0986-4123] synonym: "Cystic retinal degeneration" EXACT [] synonym: "Peripheral cystoid degeneration" EXACT [] xref: UMLS:C1839362 is_a: HP:0007769 ! Peripheral retinal degeneration [Term] id: HP:0007668 name: Impaired pursuit initiation and maintenance xref: UMLS:C1969722 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007670 name: Abnormal vestibulo-ocular reflex def: "An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude." [https://orcid.org/0000-0002-0736-9199, PMID:3625219] synonym: "Abnormal vestibuloocular reflex" EXACT [] xref: UMLS:C4021571 is_a: HP:0001751 ! Abnormal vestibular function [Term] id: HP:0007675 name: Progressive night blindness synonym: "Progressive night blindness" EXACT layperson [] xref: UMLS:C4024818 is_a: HP:0000662 ! Nyctalopia [Term] id: HP:0007676 name: Hypoplasia of the iris alt_id: HP:0000638 alt_id: HP:0007724 alt_id: HP:0007998 def: "Congenital underdevelopment of the iris." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic iris" EXACT [] synonym: "Iris hypoplasia" EXACT [] synonym: "Underdeveloped iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95714006 xref: UMLS:C0344539 is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0007677 name: Vitelliform-like macular lesions alt_id: HP:0007878 def: "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula." [https://orcid.org/0000-0001-8727-6592, PMID:18289629] synonym: "Vitelliform macular dystrophy" RELATED [] synonym: "Vitelliform macular lesions" EXACT [] xref: SNOMEDCT_US:90036004 xref: UMLS:C0339510 xref: UMLS:C4024817 is_a: HP:0030500 ! Yellow/white lesions of the macula [Term] id: HP:0007678 name: Lacrimal duct stenosis alt_id: HP:0007669 def: "Narrowing of a tear duct (lacrimal duct)." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of the tear duct" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Nasolacrimal duct stenosis" EXACT [] xref: SNOMEDCT_US:231841004 xref: UMLS:C0238300 is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0007680 name: Depigmented fundus xref: UMLS:C4024816 is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0007685 name: Peripheral retinal avascularization xref: UMLS:C1851406 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007686 name: Abnormal pupillary function def: "A functional abnormality of the pupil." [https://orcid.org/0000-0002-0736-9199] comment: It is preferable to describe the functional defect precisely. xref: SNOMEDCT_US:72124005 xref: UMLS:C0917967 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0007687 name: Unilateral ptosis def: "A unilateral form of ptosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Dropping of one upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1866806 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007688 name: Undetectable light- and dark-adapted electroretinogram alt_id: HP:0003230 alt_id: HP:0008280 def: "Absence of the combined rod-and-cone response on electroretinogram." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent cone and rod functions by electroretinogram" EXACT [] synonym: "Absent rod-and cone-mediated responses on ERG" EXACT [] xref: UMLS:C4021570 is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram [Term] id: HP:0007690 name: Map-dot-fingerprint corneal dystrophy xref: SNOMEDCT_US:32935005 xref: UMLS:C0271285 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0007691 name: obsolete Short curly eyelashes is_obsolete: true consider: HP:0007665 consider: HP:0010764 [Term] id: HP:0007692 name: obsolete Nonnuclear polymorphic congenital cataract is_obsolete: true replaced_by: HP:0000519 [Term] id: HP:0007695 name: Abnormal pupillary light reflex def: "An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1970591 is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0007697 name: Hypoplasia of the lower eyelids def: "Underdevelopment of the lower eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased size of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic lower eyelid" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Short lower eyelid" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small lower eyelid" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024814 xref: UMLS:C4280270 xref: UMLS:C4280420 is_a: HP:0430009 ! Hypoplasia of eyelid [Term] id: HP:0007698 name: obsolete Retinal pigment epithelial atrophy is_obsolete: true [Term] id: HP:0007700 name: Ocular anterior segment dysgenesis alt_id: HP:0007696 alt_id: HP:0007699 alt_id: HP:0008040 def: "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin." [HPO_CONTRIBUTOR:DDD_ncarter] comment: In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. synonym: "Anterior chamber cleavage defect" EXACT [] synonym: "Anterior chamber cleavage disorder" EXACT [] synonym: "Anterior chamber malformation" EXACT [] synonym: "Anterior chamber mesodermal anomalies" EXACT [] synonym: "Anterior segment developmental abnormality" EXACT [] synonym: "Anterior segment dysgenesis" EXACT [] synonym: "Anterior segment mesencyhmal dysgenesis" EXACT [] synonym: "Anterior segment ocular dysgenesis" EXACT [] xref: SNOMEDCT_US:65075004 xref: UMLS:C0266525 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0007702 name: obsolete Pigmentary retinal deposits is_obsolete: true replaced_by: HP:0000580 [Term] id: HP:0007703 name: Abnormality of retinal pigmentation alt_id: HP:0007741 alt_id: HP:0007743 alt_id: HP:0008051 synonym: "Abnormal retinal pigmentation" EXACT [] synonym: "Abnormality of retinal pigment epithelium" EXACT [] synonym: "Abnormality of RPE" EXACT [] synonym: "Abnormality of the retinal pigment epithelium" RELATED [] synonym: "Retinal pigmentary anomaly" EXACT [] xref: SNOMEDCT_US:421689001 xref: UMLS:C1720508 xref: UMLS:C1862475 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0007704 name: Paroxysmal involuntary eye movements def: "Sudden-onset episode of abnormal, involuntary eye movements." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal eye movements, paroxysmal" EXACT [] xref: UMLS:C1847515 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007705 name: Corneal degeneration xref: SNOMEDCT_US:111521006 xref: UMLS:C0155118 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0007707 name: Congenital aphakia def: "Absence of the crystalline lens of the eye as a result of a developmental defect." [https://orcid.org/0000-0002-0736-9199] synonym: "Lens agenesis" EXACT [] xref: UMLS:C1853230 is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens [Term] id: HP:0007708 name: Absent inner eyelashes synonym: "Absent inner eyelashes" EXACT layperson [] xref: UMLS:C4024812 is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007709 name: Band-shaped corneal dystrophy def: "A type of genetically determined disease of the cornea with corneal lesions with a band-like shape." [] xref: SNOMEDCT_US:35055000 xref: UMLS:C0155120 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007710 name: Peripheral vitreous opacities xref: UMLS:C4024811 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007712 name: obsolete Choroidal dystrophy is_obsolete: true consider: HP:0001135 [Term] id: HP:0007713 name: obsolete Juvenile zonular cataracts is_obsolete: true replaced_by: HP:0010920 [Term] id: HP:0007715 name: Weak extraocular muscles xref: UMLS:C1859436 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0007716 name: Uveal melanoma def: "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [https://orcid.org/0000-0002-0736-9199] comment: WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid. synonym: "Intraocular melanoma" EXACT [] xref: NCIT:C3224 xref: UMLS:C0220633 is_a: HP:0002861 ! Melanoma is_a: HP:0100012 ! Neoplasm of the eye [Term] id: HP:0007717 name: Chronic irritative conjunctivitis def: "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024810 is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0007720 name: Flat cornea def: "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age." [https://orcid.org/0000-0002-0736-9199] synonym: "Cornea plana" EXACT [] xref: SNOMEDCT_US:204145006 xref: UMLS:C0344529 is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0007721 name: Saccular conjunctival dilatations def: "Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] synonym: "Saccular conjunctival aneurysms" NARROW [] xref: UMLS:C3277464 is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature [Term] id: HP:0007722 name: Retinal pigment epithelial atrophy alt_id: HP:0007698 alt_id: HP:0008017 def: "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1840457 is_a: HP:0001105 ! Retinal atrophy [Term] id: HP:0007727 name: Opacification of the corneal epithelium def: "Lack of transparency of the corneal epithelium." [https://orcid.org/0000-0001-8727-6592] synonym: "Superficial corneal opacities" EXACT [] xref: UMLS:C1849198 is_a: HP:0007957 ! Corneal opacity [Term] id: HP:0007728 name: Congenital miosis def: "Abnormal (non-physiological) constriction of the pupil of congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:400962005 xref: UMLS:C1303009 is_a: HP:0000616 ! Miosis [Term] id: HP:0007730 name: Iris hypopigmentation def: "An abnormal reduction in the amount of pigmentation of the iris." [https://orcid.org/0000-0002-0736-9199] synonym: "Light eye color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Light eye colour" EXACT uk_spelling [] synonym: "Reduced iris pigmentation" EXACT [] xref: SNOMEDCT_US:247032003 xref: SNOMEDCT_US:70397008 xref: UMLS:C0154920 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0007731 name: Chorioretinal dysplasia def: "Abnormal development of the choroid and retina." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024809 is_a: HP:0000532 ! Abnormal chorioretinal morphology [Term] id: HP:0007732 name: Lacrimal gland hypoplasia def: "Underdevelopment of the lacrimal gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic lacrimal gland" EXACT [] synonym: "Underdeveloped tear gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1863200 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007733 name: Laterally curved eyebrow xref: UMLS:C1846266 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0007734 name: Enlarged lacrimal glands def: "Abnormally big lacrimal glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged tear gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1867030 is_a: HP:0011482 ! Abnormal lacrimal gland morphology [Term] id: HP:0007736 name: obsolete Pericentral retinal dystrophy is_obsolete: true consider: HP:0000556 [Term] id: HP:0007737 name: Bone spicule pigmentation of the retina alt_id: HP:0007644 alt_id: HP:0007683 alt_id: HP:0007823 def: "Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone)." [https://orcid.org/0000-0002-0736-9199] synonym: "Bone corpuscle fundus pigmentation" EXACT [] synonym: "Fundus with peripheral bony spicules" EXACT [] synonym: "Retinal 'bone corpuscle' pigmentation" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Retinal bone corpuscle pigmentation" EXACT [] synonym: "Retinal pigmented bone spicules" EXACT [] xref: UMLS:C1836926 is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0007738 name: Uncontrolled eye movements xref: UMLS:C1854686 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007739 name: obsolete Mildly reduced visual acuity is_obsolete: true replaced_by: HP:0007663 [Term] id: HP:0007740 name: Long eyelashes in irregular rows synonym: "Long eyelashes in irregular rows" EXACT layperson [] xref: UMLS:C1850640 is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0007744 name: obsolete Iridoretinal coloboma is_obsolete: true consider: HP:0000612 [Term] id: HP:0007747 name: Monocular horizontal nystagmus xref: UMLS:C4024807 is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007748 name: obsolete Irido-fundal coloboma is_obsolete: true consider: HP:0000612 [Term] id: HP:0007750 name: Hypoplasia of the fovea def: "Underdevelopment of the fovea centralis." [https://orcid.org/0000-0002-0736-9199] comment: A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea. synonym: "Foveal hypoplasia" EXACT [] xref: UMLS:C2673946 xref: UMLS:C4072863 is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea [Term] id: HP:0007754 name: Macular dystrophy alt_id: HP:0007638 alt_id: HP:0007798 alt_id: HP:0007914 alt_id: HP:0007919 alt_id: HP:0007999 def: "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C0730292 is_a: HP:0000556 ! Retinal dystrophy is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0007755 name: Juvenile epithelial corneal dystrophy xref: SNOMEDCT_US:1674008 xref: UMLS:C0339277 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0007756 name: obsolete Slitlike anterior chamber angles in children is_obsolete: true replaced_by: HP:0000594 [Term] id: HP:0007757 name: obsolete Hypoplasia of choroid is_obsolete: true replaced_by: HP:0000610 [Term] id: HP:0007758 name: obsolete Congenital visual impairment is_obsolete: true replaced_by: HP:0000505 [Term] id: HP:0007759 name: Opacification of the corneal stroma alt_id: HP:0000515 alt_id: HP:0007662 alt_id: HP:0007896 alt_id: HP:0007966 def: "Reduced transparency of the stroma of cornea." [https://orcid.org/0000-0001-8727-6592] synonym: "Cloudy cornea" EXACT [] synonym: "Cloudy corneas" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Corneal stromal opacity" EXACT [] xref: SNOMEDCT_US:246957002 xref: UMLS:C0423250 xref: UMLS:C1856661 is_a: HP:0007957 ! Corneal opacity is_a: HP:0011492 ! Abnormal corneal stroma morphology [Term] id: HP:0007760 name: Crystalline corneal dystrophy xref: SNOMEDCT_US:39662004 xref: SNOMEDCT_US:419395007 xref: UMLS:C0271287 is_a: HP:0007856 ! Punctate opacification of the cornea [Term] id: HP:0007761 name: Pericentral scotoma def: "A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:404650002 xref: UMLS:C1321308 is_a: HP:0000575 ! Scotoma [Term] id: HP:0007763 name: Retinal telangiectasia def: "Dilatation of small blood vessels of the retina." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:84884003 xref: UMLS:C0154835 is_a: HP:0001009 ! Telangiectasia is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007765 name: Deep anterior chamber def: "Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased." [https://orcid.org/0000-0002-0736-9199] comment: Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos. xref: SNOMEDCT_US:246991003 xref: UMLS:C0423280 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0007766 name: Optic disc hypoplasia alt_id: HP:0007794 alt_id: HP:0007890 def: "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic optic discs" EXACT uk_spelling [] xref: SNOMEDCT_US:373650004 xref: UMLS:C1298695 is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0007768 name: Central retinal vessel vascular tortuosity alt_id: HP:0008015 def: "The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules)." [https://orcid.org/0000-0002-0736-9199] synonym: "Tortuosity of main retinal vessels" EXACT [] xref: UMLS:C4021569 is_a: HP:0000631 ! Retinal arterial tortuosity [Term] id: HP:0007769 name: Peripheral retinal degeneration alt_id: HP:0007782 alt_id: HP:0007805 xref: SNOMEDCT_US:405721006 xref: SNOMEDCT_US:61536007 xref: UMLS:C1320640 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007770 name: Hypoplasia of the retina synonym: "Retinal hypoplasia" EXACT [] synonym: "Underdeveloped retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1854685 is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina [Term] id: HP:0007772 name: Impaired smooth pursuit alt_id: HP:0008029 def: "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal visual pursuit" RELATED [] synonym: "Abnormality of visual tracking" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Impairment of visual pursuit" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837458 xref: UMLS:C1848530 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007773 name: Vitreoretinopathy alt_id: HP:0000655 def: "Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:18179896] synonym: "Vitreoretinal abnormality" EXACT [] synonym: "Vitreoretinal degeneration" EXACT [] xref: UMLS:C1850109 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007774 name: Hypoplasia of the ciliary body def: "Underdevelopment of the ciliary body." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1836890 is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0012776 ! Abnormal ciliary body morphology [Term] id: HP:0007776 name: Sparse lower eyelashes alt_id: HP:0007785 synonym: "Hypotrichosis of lower eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Partial absence of lower eyelashes" EXACT [] synonym: "Scanty lower eyelashes" EXACT layperson [] synonym: "Sparse lower eyelashes" EXACT layperson [] synonym: "Thin lower eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1835148 is_a: HP:0000653 ! Sparse eyelashes is_a: HP:0040052 ! Abnormality of lower eyelashes [Term] id: HP:0007777 name: Chorioretinal scar def: "Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye." [] xref: SNOMEDCT_US:53854005 xref: UMLS:C0008512 is_a: HP:0100699 ! Scarring is_a: HP:0200065 ! Chorioretinal degeneration [Term] id: HP:0007778 name: Posterior retinal neovascularization def: "A type of retinal neovascularization that affects the posterior pole of the retina." [https://orcid.org/0000-0002-0736-9199] synonym: "Neovascularization of peripheral and posterior retina" EXACT [] synonym: "Posterior retinal neovascularisation" EXACT [] xref: UMLS:C4024803 is_a: HP:0030666 ! Retinal neovascularization [Term] id: HP:0007779 name: Anterior segment of eye aplasia xref: UMLS:C1853234 is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye [Term] id: HP:0007780 name: Cortical pulverulent cataract def: "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Cataracts, cortical pulverulent" EXACT [] xref: UMLS:C4021568 is_a: HP:0010693 ! Pulverulent cataract [Term] id: HP:0007782 name: obsolete Peripheral retinal cone degeneration is_obsolete: true replaced_by: HP:0007769 [Term] id: HP:0007783 name: obsolete Butterfly retinal pigment epithelial dystrophy is_obsolete: true consider: HP:0000556 [Term] id: HP:0007786 name: obsolete Lacunar retinal depigmentation is_obsolete: true replaced_by: HP:0007858 [Term] id: HP:0007787 name: Posterior subcapsular cataract alt_id: HP:0007666 alt_id: HP:0007857 def: "A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule." [https://orcid.org/0000-0002-0736-9199] synonym: "Posterior subcapsular cataracts" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Posterior subcapsular opacities of the lens" EXACT [] xref: SNOMEDCT_US:315353005 xref: UMLS:C0858617 is_a: HP:0000523 ! Subcapsular cataract [Term] id: HP:0007791 name: Patchy atrophy of the retinal pigment epithelium def: "Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas." [] xref: UMLS:C4024800 is_a: HP:0007722 ! Retinal pigment epithelial atrophy [Term] id: HP:0007792 name: Microsaccadic pursuit xref: UMLS:C1843892 is_a: HP:0001152 ! Saccadic smooth pursuit [Term] id: HP:0007793 name: Granular macular appearance def: "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea." [https://orcid.org/0000-0002-0736-9199] synonym: "Macular retinal pigment epithelial mottling" EXACT [] xref: UMLS:C4024799 is_a: HP:0007814 ! Retinal pigment epithelial mottling is_a: HP:0008002 ! Abnormality of macular pigmentation [Term] id: HP:0007795 name: Anterior cortical cataract def: "A cataract that affects the anterior part of the cortex of the lens." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857308 is_a: HP:0100019 ! Cortical cataract [Term] id: HP:0007797 name: Retinal vascular malformation xref: UMLS:C1861791 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007798 name: obsolete Foveal dystrophy is_obsolete: true consider: HP:0000493 [Term] id: HP:0007799 name: Conjunctival whitish salt-like deposits def: "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1968901 is_a: HP:0000502 ! Abnormal conjunctiva morphology [Term] id: HP:0007800 name: Increased axial length of the globe def: "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean." [HPO_CONTRIBUTOR:DDD_ncarter] synonym: "Globe elongated" EXACT [] synonym: "Increased axial globe length" EXACT [] synonym: "Increased front to back length of eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1835117 is_a: HP:0001090 ! Abnormally large globe [Term] id: HP:0007801 name: obsolete Fishnet retinal pigmentation is_obsolete: true consider: HP:0007703 [Term] id: HP:0007802 name: Granular corneal dystrophy def: "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:45283008 xref: UMLS:C0018179 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007803 name: Monochromacy alt_id: HP:0007954 def: "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray." [https://orcid.org/0000-0001-8727-6592] comment: Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of gray. synonym: "Complete achromatopsia" EXACT [] synonym: "Total colorblindness" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:56852002 xref: UMLS:C0152200 xref: UMLS:C1857618 is_a: HP:0000551 ! Color vision defect [Term] id: HP:0007807 name: Optic nerve compression alt_id: HP:0008495 xref: SNOMEDCT_US:72983001 xref: UMLS:C0271344 is_a: HP:0000587 ! Abnormal optic nerve morphology is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007808 name: obsolete Bilateral retinal coloboma is_obsolete: true replaced_by: HP:0000480 [Term] id: HP:0007809 name: Punctate corneal dystrophy xref: UMLS:C4024796 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007810 name: obsolete Progressive bifocal chorioretinal atrophy is_obsolete: true consider: HP:0000533 [Term] id: HP:0007811 name: Horizontal pendular nystagmus alt_id: HP:0200069 def: "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity." [https://orcid.org/0000-0002-0736-9199] comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. xref: UMLS:C1866180 is_a: HP:0000666 ! Horizontal nystagmus is_a: HP:0006934 ! Congenital nystagmus is_a: HP:0012043 ! Pendular nystagmus [Term] id: HP:0007812 name: Herpetiform corneal ulceration def: "The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining." [https://orcid.org/0000-0002-0736-9199] synonym: "Dendritic corneal epithelial ulcer" EXACT [] synonym: "Herpetiform corneal ulcers" EXACT [] xref: UMLS:C4020911 is_a: HP:0012804 ! Corneal ulceration [Term] id: HP:0007813 name: Nongranulomatous uveitis def: "A form of uveitis that is not associated with the formation of granulomas." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024795 is_a: HP:0000554 ! Uveitis [Term] id: HP:0007814 name: Retinal pigment epithelial mottling alt_id: HP:0001124 def: "Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium." [https://orcid.org/0000-0002-0736-9199] synonym: "Focal hypopigmentation of the retinal pigment epithelium" EXACT [] synonym: "Retinal pigment epithelium irregularity" EXACT [] synonym: "RPE irregularity" EXACT abbreviation [] synonym: "RPE mottling" EXACT abbreviation [] synonym: "Salt and pepper retinal pigmentation" EXACT [] synonym: "Salt and pepper retinopathy" EXACT [] xref: UMLS:C1857644 is_a: HP:0007703 ! Abnormality of retinal pigmentation [Term] id: HP:0007815 name: Abnormal distribution of retinal arterioles and venules xref: UMLS:C3277463 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007817 name: Horizontal supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024794 is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0007818 name: Central heterochromia def: "The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone." [https://orcid.org/0000-0002-0736-9199] synonym: "Ring iris heterochromia" EXACT [] xref: UMLS:C4021567 is_a: HP:0001100 ! Heterochromia iridis [Term] id: HP:0007819 name: Presenile cataracts alt_id: HP:0007848 def: "Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual." [https://orcid.org/0000-0002-0736-9199, PMID:17030721] comment: Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age. synonym: "Presenile cataract" EXACT [] xref: SNOMEDCT_US:441622000 xref: UMLS:C0154971 is_a: HP:0000518 ! Cataract [Term] id: HP:0007820 name: Lacrimal punctal atresia def: "Congenital absence or closure of the opening of the lacrimal punctum." [https://orcid.org/0000-0002-0736-9199] synonym: "Atretic lacrimal puncta" EXACT plural_form [] synonym: "Atretic lacrimal punctum" EXACT [] xref: UMLS:C1863201 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology [Term] id: HP:0007822 name: Central retinal exudate xref: UMLS:C4024793 is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007824 name: Total ophthalmoplegia def: "Paralysis of both the extrinsic and intrinsic ocular muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete ophthalmoplegia" EXACT [] synonym: "Global paralysis of gaze" EXACT [] synonym: "Total internal and external ophthalmoplegia" EXACT [] xref: SNOMEDCT_US:78097002 xref: UMLS:C0155338 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007825 name: obsolete Cataracts develop in second or third decade is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0007827 name: Nodular corneal dystrophy xref: UMLS:C4024792 is_a: HP:0011494 ! Generalized opacification of the cornea [Term] id: HP:0007829 name: obsolete Diffuse retinal cone degeneration is_obsolete: true consider: HP:0000546 [Term] id: HP:0007830 name: Adult-onset night blindness def: "Inability to see well at night or in poor light with onset in adulthood." [https://orcid.org/0000-0002-0736-9199] synonym: "Adult-onset night blindness" EXACT layperson [] xref: UMLS:C4024790 is_a: HP:0000662 ! Nyctalopia [Term] id: HP:0007831 name: Nonprogressive restrictive external ophthalmoplegia alt_id: HP:0007682 def: "Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024789 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007832 name: Pigmentation of the sclera synonym: "Pigmentation of the outer white part of the eyeball" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1859882 is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0007833 name: Anterior chamber synechiae xref: UMLS:C4024788 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0007834 name: Progressive cataract alt_id: HP:0007828 def: "A kind of cataract that progresses with age." [https://orcid.org/0000-0002-0736-9199] synonym: "Cataract, progressive" EXACT [] xref: UMLS:C4021566 is_a: HP:0000518 ! Cataract [Term] id: HP:0007835 name: S-shaped palpebral fissures synonym: "S-shaped eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "S-shaped opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024787 is_a: HP:0200005 ! Abnormal shape of the palpebral fissure [Term] id: HP:0007836 name: Mosaic corneal dystrophy xref: UMLS:C4024786 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007838 name: Progressive ptosis def: "A progressive form of ptosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive drooping of upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834015 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007840 name: Long upper eyelashes def: "Increased length of the upper eyelashes." [https://orcid.org/0000-0002-0736-9199] synonym: "Ciliary trichomegaly of upper eyelashes" EXACT [] synonym: "Increased length of upper eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long upper eyelashes" EXACT layperson [] xref: UMLS:C4024785 is_a: HP:0000527 ! Long eyelashes is_a: HP:0040051 ! Abnormality of upper eyelashes [Term] id: HP:0007841 name: Amyloid deposition in the vitreous humor def: "Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity." [https://orcid.org/0000-0002-0736-9199] synonym: "Amyloid deposition in the vitreous humour" EXACT uk_spelling [] synonym: "Vitreous amyloid deposits" EXACT [] xref: UMLS:C4024784 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007843 name: Attenuation of retinal blood vessels synonym: "Narrowing of blood vessels in back of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C3278975 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007850 name: Retinal vascular proliferation xref: SNOMEDCT_US:61267008 xref: UMLS:C0035320 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007851 name: obsolete Temporal displacement of maculae is_obsolete: true consider: HP:0001103 [Term] id: HP:0007852 name: obsolete Pericentral pigmentary retinopathy is_obsolete: true replaced_by: HP:0000580 [Term] id: HP:0007854 name: Glaucomatous visual field defect xref: SNOMEDCT_US:370961005 xref: UMLS:C1299694 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0007856 name: Punctate opacification of the cornea alt_id: HP:0008004 def: "Punctate opacification (reduced transparency) of the corneal stroma." [https://orcid.org/0000-0001-8727-6592] synonym: "Punctate corneal opacities" EXACT [] xref: UMLS:C4021565 is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0007858 name: Chorioretinal lacunae alt_id: HP:0007786 def: "Punched out lesions in the pigmented layer of the retina." [https://orcid.org/0000-0002-0736-9199] comment: A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. subset: hposlim_core synonym: "Lacunar retinal depigmentation" RELATED [] xref: UMLS:C1844751 xref: UMLS:C4072866 is_a: HP:0000532 ! Abnormal chorioretinal morphology [Term] id: HP:0007859 name: Congenital horizontal nystagmus def: "Horizontal nystagmus dating from or present at birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Nystagmus, congenital horizontal" EXACT [] xref: UMLS:C1866180 is_a: HP:0000666 ! Horizontal nystagmus is_a: HP:0006934 ! Congenital nystagmus [Term] id: HP:0007862 name: Retinal calcification def: "Deposition of calcium salts in the retina." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1867289 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0030506 ! Yellow/white lesions of the retina [Term] id: HP:0007866 name: Retinal infarction xref: UMLS:C0281967 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0007867 name: Restrictive partial external ophthalmoplegia def: "Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024781 is_a: HP:0007936 ! Restrictive external ophthalmoplegia [Term] id: HP:0007868 name: obsolete Age-related macular degeneration is_obsolete: true consider: HP:0000608 [Term] id: HP:0007869 name: obsolete Peripheral retinopathy is_obsolete: true [Term] id: HP:0007872 name: Choroidal hemangioma def: "The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas." [https://orcid.org/0000-0002-0736-9199] comment: Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic. xref: NCIT:C3086 xref: SNOMEDCT_US:255022003 xref: UMLS:C0346390 is_a: HP:0001028 ! Hemangioma is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature [Term] id: HP:0007873 name: Abnormally prominent line of Schwalbe alt_id: HP:0007940 synonym: "Prominent Schwalbe lines" EXACT [] xref: UMLS:C1862376 is_a: HP:0008048 ! Abnormal line of Schwalbe morphology [Term] id: HP:0007874 name: Almond-shaped palpebral fissure def: "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point." [PMID:19125427] comment: The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow. subset: hposlim_core synonym: "Almond shaped eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Almond-shaped opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024780 is_a: HP:0200005 ! Abnormal shape of the palpebral fissure [Term] id: HP:0007875 name: Congenital blindness alt_id: HP:0007706 def: "Blindness with onset at birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Blindness present at birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Congenital amaurosis" EXACT [] xref: SNOMEDCT_US:95486002 xref: UMLS:C0005754 is_a: HP:0000618 ! Blindness [Term] id: HP:0007876 name: obsolete Juvenile cortical cataract is_obsolete: true replaced_by: HP:0100019 [Term] id: HP:0007879 name: Allergic conjunctivitis def: "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:231854006 xref: SNOMEDCT_US:473460002 xref: UMLS:C0009766 is_a: HP:0000509 ! Conjunctivitis is_a: HP:0012393 ! Allergy [Term] id: HP:0007880 name: Marginal corneal dystrophy xref: UMLS:C4024779 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007881 name: Central corneal dystrophy xref: UMLS:C4024778 is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0007885 name: Slowed horizontal saccades def: "An abnormally slow velocity of horizontal saccadic eye movements." [https://orcid.org/0000-0002-0736-9199] comment: Saccades are rapid eye movements that align the fovea with the target. xref: UMLS:C1856477 is_a: HP:0000514 ! Slow saccadic eye movements [Term] id: HP:0007886 name: Absent extraocular muscles def: "Congenital absence of the extraocular muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent ocular muscles" RELATED [] synonym: "Missing eye muscles" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1408781 xref: UMLS:C4024777 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007889 name: Iridescent posterior subcapsular cataract def: "A type of posterior subcapsular cataract characterized by an iridescent color." [https://orcid.org/0000-0002-0736-9199, PMID:7826272] synonym: "Cataracts, posterior, subcapsular, iridescent" EXACT [] xref: UMLS:C1864573 is_a: HP:0007787 ! Posterior subcapsular cataract [Term] id: HP:0007892 name: Hypoplasia of the lacrimal punctum def: "Underdevelopment of the lacrimal puncta." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of the lacrimal puncta" EXACT plural_form [] synonym: "Hypoplastic lacrimal puncta" EXACT plural_form [] xref: UMLS:C4021564 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology [Term] id: HP:0007893 name: obsolete Progressive retinal degeneration is_obsolete: true [Term] id: HP:0007894 name: Hypopigmentation of the fundus alt_id: HP:0001111 alt_id: HP:0001487 alt_id: HP:0007746 alt_id: HP:0007752 def: "Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." [https://orcid.org/0000-0003-0986-4123] synonym: "Decreased fundus pigmentation" EXACT [] synonym: "Fundus hypopigmentation" EXACT [] xref: SNOMEDCT_US:95694000 xref: UMLS:C0151891 is_a: HP:0031605 ! Abnormality of fundus pigmentation [Term] id: HP:0007898 name: Exudative retinopathy xref: SNOMEDCT_US:25506007 xref: SNOMEDCT_US:360455002 xref: UMLS:C0154832 is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007899 name: Retinal nonattachment alt_id: HP:0007849 def: "Failure of attachment of the retina during development." [https://orcid.org/0000-0002-0736-9199, PMID:21441919] synonym: "Congenital retinal non-attachment" EXACT [] xref: UMLS:C4021563 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007900 name: Hypoplastic lacrimal duct synonym: "Underdeveloped tear duct" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1968574 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0007901 name: obsolete Retinal malformation is_obsolete: true replaced_by: HP:0000479 [Term] id: HP:0007902 name: Vitreous hemorrhage def: "Bleeding within the vitreous compartment of the eye." [https://orcid.org/0000-0003-2945-4463, PMID:16882398] comment: The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others. subset: hposlim_core synonym: "Vitreous haemorrhage" EXACT uk_spelling [] xref: SNOMEDCT_US:31341008 xref: UMLS:C0042909 is_a: HP:0004327 ! Abnormal vitreous humor morphology is_a: HP:0011885 ! Hemorrhage of the eye [Term] id: HP:0007903 name: Paravenous chorioretinal atrophy def: "Chorioretinal atrophy along the retinal veins." [https://orcid.org/0000-0002-0736-9199, PMID:15623792] xref: UMLS:C4072868 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007905 name: Abnormal iris vasculature synonym: "Abnormality of iris blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3275963 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0008047 ! Abnormality of the vasculature of the eye [Term] id: HP:0007906 name: Ocular hypertension def: "Intraocular pressure that is 2 standard deviations above the population mean." [] synonym: "Elevated intraocular pressure" EXACT [] synonym: "Elevated IOP" EXACT abbreviation [] synonym: "High eye pressure" EXACT layperson [] synonym: "Increased intraocular pressure" EXACT [] synonym: "Increased IOP" EXACT abbreviation [] synonym: "Raised intraocular pressure" EXACT [] synonym: "Raised IOP" EXACT abbreviation [] xref: SNOMEDCT_US:112222000 xref: UMLS:C0234708 is_a: HP:0012633 ! Asymmetry of intraocular pressure [Term] id: HP:0007910 name: obsolete Nonprogressive congenital retinal dystrophy is_obsolete: true consider: HP:0000556 [Term] id: HP:0007911 name: Congenital bilateral ptosis alt_id: HP:0007719 alt_id: HP:0007955 synonym: "Congenital drooping of both upper eyelids" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ptosis, bilateral congenital" EXACT [] synonym: "Ptosis, congenital bilateral" EXACT [] xref: UMLS:C1836264 is_a: HP:0001488 ! Bilateral ptosis is_a: HP:0007970 ! Congenital ptosis [Term] id: HP:0007913 name: Reticular retinal dystrophy def: "A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation." [] xref: UMLS:C4024776 is_a: HP:0007963 ! Pattern dystrophy of the retina [Term] id: HP:0007915 name: Polymorphous posterior corneal dystrophy def: "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:29504002 xref: UMLS:C0339284 is_a: HP:0011489 ! Abnormal migration of corneal endothelium is_a: HP:0011491 ! Reduced number of corneal endothelial cells [Term] id: HP:0007916 name: obsolete Small anterior lens surface opacities is_obsolete: true consider: HP:0007795 [Term] id: HP:0007917 name: Tractional retinal detachment def: "A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes." [https://orcid.org/0000-0002-0736-9199, ISBN-13:978-0199679980] xref: UMLS:C1866178 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007920 name: obsolete Congenital chorioretinal dystrophy is_obsolete: true replaced_by: HP:0001135 [Term] id: HP:0007922 name: Hypermyelinated retinal nerve fibers alt_id: HP:0007654 synonym: "Hypermyelinated retinal nerve fibres" EXACT uk_spelling [] synonym: "Retinal striation" EXACT [] xref: UMLS:C1849151 is_a: HP:0012447 ! Abnormal myelination is_a: HP:0020119 ! Abnormal retinal nerve fiber layer morphology [Term] id: HP:0007923 name: obsolete Foveal hyperplasia is_obsolete: true consider: HP:0000493 [Term] id: HP:0007924 name: Slow decrease in visual acuity alt_id: HP:0007652 synonym: "Decreased visual acuity, slowly progressive" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Slow decrease in sharpness of vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subacute deterioration of visual acuity" EXACT [] xref: UMLS:C1853141 xref: UMLS:C3278981 is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0007925 name: Lacrimal duct aplasia def: "A congenital defect resulting in absence of the lacrimal duct." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent tear duct" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024773 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0007928 name: Abnormal flash visual evoked potentials def: "Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024772 is_a: HP:0000649 ! Abnormality of visual evoked potentials [Term] id: HP:0007929 name: Peripheral retinal detachment def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium occurring near the outer limit (periphery) of the retina." [] xref: UMLS:C4024771 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007930 name: obsolete Prominent epicanthal folds is_obsolete: true replaced_by: HP:0000286 [Term] id: HP:0007932 name: Bilateral congenital mydriasis def: "Congenital abnormal dilation of the pupil on both sides." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024770 is_a: HP:0011499 ! Mydriasis [Term] id: HP:0007933 name: Broad lateral eyebrow def: "Regional increase in the width (height) of the lateral eyebrow." [https://orcid.org/0000-0002-0736-9199] synonym: "Lateral eyebrow flare" EXACT [] synonym: "Wide lateral eyebrow" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837733 is_a: HP:0011229 ! Broad eyebrow [Term] id: HP:0007935 name: Juvenile posterior subcapsular lenticular opacities xref: UMLS:C1863408 is_a: HP:0007787 ! Posterior subcapsular cataract [Term] id: HP:0007936 name: Restrictive external ophthalmoplegia alt_id: HP:0007846 alt_id: HP:0007959 alt_id: HP:0008025 def: "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [https://orcid.org/0000-0002-0736-9199] synonym: "Restrictive external ophthalmoplegia, bilateral" RELATED [] synonym: "Restrictive ophthalmoplegia" EXACT [] xref: UMLS:C1865918 xref: UMLS:C4020806 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007937 name: Reticular pigmentary degeneration def: "A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus." [HPO_CONTRIBUTOR:fprobst, PMID:28114409] synonym: "Fishnet retinal pigmentation" EXACT [] synonym: "Honeycomb retinal degeneration" EXACT [] xref: UMLS:C4024769 is_a: HP:0007769 ! Peripheral retinal degeneration is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007939 name: Blue cone monochromacy def: "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors." [https://orcid.org/0000-0002-0736-9199] synonym: "Blue cone monochromatism" EXACT [] synonym: "Incomplete achromatopsia" EXACT [] synonym: "S-cone monochromacy" EXACT [] xref: SNOMEDCT_US:24704003 xref: UMLS:C0339537 is_a: HP:0011517 ! Cone monochromacy [Term] id: HP:0007941 name: Limited extraocular movements def: "Limited mobility of the eye within its socket." [] synonym: "Limited extraocular movement" EXACT [] xref: UMLS:C1858427 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007942 name: Internal ophthalmoplegia def: "Paralysis of the iris and ciliary apparatus." [https://orcid.org/0000-0002-0736-9199] comment: Paralysis of the internal ocular muscles, the iris and ciliary apparatus. xref: SNOMEDCT_US:232146005 xref: UMLS:C0339693 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007943 name: Congenital stapes ankylosis def: "A form of stapes ankylosis with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1866657 is_a: HP:0000381 ! Stapes ankylosis [Term] id: HP:0007944 name: Intermittent microsaccadic pursuits xref: UMLS:C4024768 is_a: HP:0001152 ! Saccadic smooth pursuit [Term] id: HP:0007945 name: obsolete Choroidal degeneration is_obsolete: true consider: HP:0200065 [Term] id: HP:0007946 name: Unilateral narrow palpebral fissure def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrow palpebral fissure, unilateral" EXACT [] synonym: "Unequal size of opening between the eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1866805 xref: UMLS:C4280419 is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0007947 name: Pericentral retinitis pigmentosa def: "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery." [https://orcid.org/0000-0003-0986-4123, PMID:28981474] xref: UMLS:C1849398 is_a: HP:0000510 ! Rod-cone dystrophy [Term] id: HP:0007948 name: Dense posterior cortical cataract def: "A type of posterior cortical cataract characterized by dense lenticular opacities." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024767 is_a: HP:0010924 ! Posterior cortical cataract [Term] id: HP:0007949 name: obsolete Progressive macular scarring is_obsolete: true [Term] id: HP:0007950 name: Peripapillary chorioretinal atrophy def: "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024765 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007956 name: obsolete Bilateral choroid coloboma is_obsolete: true replaced_by: HP:0000567 [Term] id: HP:0007957 name: Corneal opacity alt_id: HP:0007844 alt_id: HP:0007883 alt_id: HP:0008502 def: "A reduction of corneal clarity." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Corneal clouding" EXACT [] synonym: "Corneal opacities" EXACT [] synonym: "Reduction of corneal clarity" EXACT [] synonym: "Scarring or clouding of the cornea of the eye" EXACT [] xref: SNOMEDCT_US:413921009 xref: SNOMEDCT_US:64634000 xref: SNOMEDCT_US:95735008 xref: UMLS:C0010038 xref: UMLS:C0521719 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0007958 name: Optic atrophy from cranial nerve compression xref: UMLS:C4024763 is_a: HP:0000648 ! Optic atrophy is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007961 name: obsolete Rarefaction of retinal pigmentation is_obsolete: true consider: HP:0000580 [Term] id: HP:0007962 name: Speckled corneal dystrophy xref: UMLS:C4021857 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007963 name: Pattern dystrophy of the retina def: "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)." [https://orcid.org/0000-0003-0986-4123] xref: UMLS:C4024762 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007964 name: Degenerative vitreoretinopathy xref: UMLS:C1843486 is_a: HP:0007773 ! Vitreoretinopathy [Term] id: HP:0007965 name: Undetectable visual evoked potentials synonym: "Absence of visual evoked potentials" EXACT [] synonym: "Non-detectable VEP" EXACT [] synonym: "Undetectable VEP" EXACT [] xref: UMLS:C1850069 is_a: HP:0000649 ! Abnormality of visual evoked potentials [Term] id: HP:0007968 name: Remnants of the hyaloid vascular system def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Congenital retinal septum" EXACT [] synonym: "Persistent fetal vasculature" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Persistent foetal vasculature" EXACT uk_spelling [] synonym: "Persistent hyperplasia of primary vitreous" EXACT [] synonym: "Persistent hyperplastic primary vitreous" EXACT [] synonym: "Persistent hypertrophic primary vitreous" EXACT [] synonym: "Persistent posterior fetal fibrovascular sheath of the lens" EXACT [] synonym: "Persistent posterior foetal fibrovascular sheath of the lens" EXACT uk_spelling [] synonym: "Persistent tunica vasculosa lentis" EXACT [] xref: SNOMEDCT_US:314270008 xref: SNOMEDCT_US:44647001 xref: SNOMEDCT_US:69927002 xref: UMLS:C0266568 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007970 name: Congenital ptosis synonym: "Congenital drooping upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:268163008 xref: SNOMEDCT_US:61989004 xref: UMLS:C0266573 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007971 name: Lamellar cataract def: "A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204128001 xref: SNOMEDCT_US:21590003 xref: UMLS:C0266537 is_a: HP:0010920 ! Zonular cataract [Term] id: HP:0007973 name: Retinal dysplasia alt_id: HP:0007901 alt_id: HP:0008022 def: "The presence of developmental dysplasia of the retina." [https://orcid.org/0000-0002-0736-9199] comment: This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately. subset: hposlim_core synonym: "Retinal dysgenesis" EXACT [] xref: SNOMEDCT_US:95494009 xref: UMLS:C0035313 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0007975 name: Hypometric horizontal saccades def: "Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [https://orcid.org/0000-0002-0736-9199, PMID:572501] xref: UMLS:C1856478 is_a: HP:0000571 ! Hypometric saccades [Term] id: HP:0007976 name: Cerulean cataract def: "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary." [https://orcid.org/0000-0002-0736-9199, PMID:19496508, PMID:9158139] synonym: "Cataracts, congenital, cerulean" EXACT [] xref: SNOMEDCT_US:204138006 xref: UMLS:C0344523 is_a: HP:0007648 ! Punctate cataract [Term] id: HP:0007979 name: Gaze-evoked horizontal nystagmus alt_id: HP:0007639 def: "Horizontal nystagmus made apparent by looking to the right or to the left." [https://orcid.org/0000-0002-0736-9199] synonym: "Nystagmus, horizontal gaze-evoked" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Nystagmus, horizontal, gaze-evoked" EXACT [] xref: UMLS:C1853394 is_a: HP:0000640 ! Gaze-evoked nystagmus is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007980 name: Absent retinal pigment epithelium xref: UMLS:C1852548 is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0007981 name: obsolete Concentric narrowing of visual field is_obsolete: true replaced_by: HP:0001133 [Term] id: HP:0007982 name: obsolete Central tapetoretinal dystrophy is_obsolete: true consider: HP:0000556 [Term] id: HP:0007984 name: Electronegative electroretinogram def: "A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3)." [https://orcid.org/0000-0002-0736-9199] comment: Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave. synonym: "Electronegative ERG" EXACT abbreviation [] synonym: "Electroretinogram: reduced b-wave amplitude" EXACT [] synonym: "Reduced amplitude of dark-adapted bright flash electroretinogram b-wave" EXACT [] synonym: "Reduced electroretinogram rod b-wave" EXACT [] synonym: "Reduced ERG amplitude of b-wave" EXACT [] xref: UMLS:C4021561 is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretinogram [Term] id: HP:0007985 name: Retinal arteriolar occlusion def: "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina." [https://orcid.org/0000-0002-0736-9199] synonym: "Blocked retinal artery" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024761 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0007986 name: Increased retinal vascularity xref: UMLS:C1847882 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007987 name: Progressive visual field defects xref: UMLS:C4024760 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0007988 name: Macular hypopigmentation def: "Decreased amount of pigmentation in the macula lutea." [HPO_CONTRIBUTOR:DDD_ncarter] xref: UMLS:C4024759 is_a: HP:0008002 ! Abnormality of macular pigmentation [Term] id: HP:0007989 name: Intraretinal exudate def: "Retinal exudate within the retinal tissue itself." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024758 is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007990 name: Hypoplastic iris stroma alt_id: HP:0007991 alt_id: HP:0008027 def: "Underdevelopment of the stroma of iris." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic iris stoma" EXACT [] synonym: "Iris stromal hypoplasia" EXACT [] synonym: "Underdeveloped iris stroma" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1860344 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0007992 name: Lattice retinal degeneration xref: SNOMEDCT_US:3577000 xref: UMLS:C0154856 is_a: HP:0007769 ! Peripheral retinal degeneration [Term] id: HP:0007993 name: Malformed lacrimal duct def: "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies." [https://orcid.org/0000-0002-0736-9199] synonym: "Malformed tear ducts" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024757 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0007994 name: Peripheral visual field loss def: "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." [https://orcid.org/0000-0002-0736-9199] synonym: "Kalnienk vision" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Loss of peripheral vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Tunnel vision" RELATED layperson [] xref: SNOMEDCT_US:420990001 xref: UMLS:C0241688 xref: UMLS:C2937228 is_a: HP:0001133 ! Constriction of peripheral visual field [Term] id: HP:0008000 name: Decreased corneal reflex def: "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased blink reflex" EXACT [] synonym: "Reduced corneal reflex" EXACT [] xref: SNOMEDCT_US:103254005 xref: UMLS:C0151572 is_a: HP:0034251 ! Abnormal corneal reflex [Term] id: HP:0008001 name: Foveal hyperpigmentation def: "Increased amount of pigmentation in the fovea centralis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3809301 is_a: HP:0030493 ! Abnormality of foveal pigmentation [Term] id: HP:0008002 name: Abnormality of macular pigmentation def: "Abnormality of macular or foveal pigmentation." [HPO_CONTRIBUTOR:DDD_ncarter] subset: hposlim_core synonym: "Macular pigmentary changes" RELATED [] xref: UMLS:C1837087 xref: UMLS:C4024756 is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0008003 name: Jerky ocular pursuit movements alt_id: HP:0007897 synonym: "Jerky smooth pursuit" EXACT [] xref: UMLS:C1853558 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0008005 name: obsolete Congenital corneal dystrophy is_obsolete: true replaced_by: HP:0001131 [Term] id: HP:0008007 name: Primary congenital glaucoma xref: SNOMEDCT_US:415176004 xref: UMLS:C1533041 is_a: HP:0001087 ! Developmental glaucoma [Term] id: HP:0008008 name: obsolete Progressive central visual loss is_obsolete: true [Term] id: HP:0008009 name: Three rows of eyelashes synonym: "Three rows of eyelashes" EXACT layperson [] synonym: "Triple row of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860785 is_a: HP:0008496 ! Multiple rows of eyelashes [Term] id: HP:0008011 name: Peripheral opacification of the cornea def: "Reduced transparency of the peripheral region of the cornea." [https://orcid.org/0000-0002-0736-9199] synonym: "Peripheral corneal opacity" EXACT [] xref: SNOMEDCT_US:55713007 xref: UMLS:C0155100 is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0008012 name: obsolete Congenital myopia is_obsolete: true consider: HP:0000545 [Term] id: HP:0008014 name: Central fundal arteriolar microaneurysms def: "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024755 is_a: HP:0032416 ! Retinal microaneurysm [Term] id: HP:0008017 name: obsolete Depigmented lesions of the retinal pigment epithelium is_obsolete: true consider: HP:0007680 [Term] id: HP:0008019 name: Superior lens subluxation def: "Partial dislocation of the lens in a superior direction." [https://orcid.org/0000-0002-0736-9199, PMID:5087595] synonym: "Superior subluxated lens" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C2036843 is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008020 name: Cone dystrophy alt_id: HP:0007789 def: "Inherited progressive cone degeneration." [] synonym: "Progressive cone degeneration" EXACT [] synonym: "Progressive cone dystrophy" EXACT [] xref: UMLS:C0730290 xref: UMLS:C3665342 is_a: HP:0000548 ! Cone/cone-rod dystrophy [Term] id: HP:0008024 name: obsolete Congenital nuclear cataract is_obsolete: true replaced_by: HP:0100018 [Term] id: HP:0008026 name: Horizontal opticokinetic nystagmus xref: UMLS:C4024754 is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0008028 name: Cystoid macular degeneration alt_id: HP:0007673 def: "A form of macular degeneration characterized by the presence of multiple cysts in the macula." [https://orcid.org/0000-0002-0736-9199] synonym: "Cystic macular degeneration" EXACT [] xref: SNOMEDCT_US:14046000 xref: UMLS:C0154850 is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0008030 name: Retinal arteritis xref: SNOMEDCT_US:11255009 xref: UMLS:C0271069 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0012089 ! Arteritis is_a: HP:0025188 ! Retinal vasculitis [Term] id: HP:0008031 name: Posterior Y-sutural cataract def: "A type of sutural cataract in which the opacity follows the posterior Y suture." [https://orcid.org/0000-0002-0736-9199] synonym: "Posterior Y-sutural cataracts" EXACT [] xref: UMLS:C4021560 is_a: HP:0010695 ! Sutural cataract [Term] id: HP:0008033 name: obsolete Congenital exotropia is_obsolete: true replaced_by: HP:0000577 [Term] id: HP:0008034 name: Abnormal iris pigmentation def: "Abnormal pigmentation of the iris." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1834387 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0008035 name: Retinitis pigmentosa inversa alt_id: HP:0008506 def: "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)." [https://orcid.org/0000-0003-0986-4123, PMID:9734800] synonym: "Central retinitis pigmentosa" EXACT [] xref: UMLS:C4021559 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0008036 name: obsolete Rod-cone dystrophy is_obsolete: true [Term] id: HP:0008037 name: Absent anterior chamber of the eye def: "Absence of the anterior chamber of the eye owing to a developmental defect." [] xref: SNOMEDCT_US:404675003 xref: SNOMEDCT_US:55457007 xref: UMLS:C0271004 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0008038 name: Aplastic/hypoplastic lacrimal glands def: "Absence or underdevelopment of the lacrimal gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/underdeveloped lacrimal glands" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped tear glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1835602 is_a: HP:0011482 ! Abnormal lacrimal gland morphology [Term] id: HP:0008039 name: Subepithelial corneal opacities xref: UMLS:C1857307 is_a: HP:0007727 ! Opacification of the corneal epithelium [Term] id: HP:0008041 name: Late onset congenital glaucoma xref: UMLS:C1856441 is_a: HP:0001087 ! Developmental glaucoma [Term] id: HP:0008043 name: Retinal arteriolar constriction alt_id: HP:0007952 alt_id: HP:0008510 def: "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina." [https://orcid.org/0000-0002-0736-9199] comment: Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery. synonym: "Constricted retinal arterioles" EXACT [] synonym: "Narrow retinal arterioles" EXACT [] synonym: "Retinal arteriolar narrowing" EXACT [] xref: UMLS:C2176208 is_a: HP:0000630 ! Abnormal retinal artery morphology [Term] id: HP:0008045 name: Enlarged flash visual evoked potentials synonym: "High flash visual evoked potentials" EXACT [] xref: UMLS:C4021558 is_a: HP:0030462 ! Abnormal amplitude of flash visual evoked potentials [Term] id: HP:0008046 name: Abnormal retinal vascular morphology def: "A structural abnormality of retinal vasculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of retina blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the retinal vasculature" EXACT [] xref: UMLS:C4024753 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0008047 ! Abnormality of the vasculature of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T12:09:00Z [Term] id: HP:0008047 name: Abnormality of the vasculature of the eye synonym: "Abnormality of eye blood vessels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024752 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012372 ! Abnormal eye morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T12:10:00Z [Term] id: HP:0008048 name: Abnormal line of Schwalbe morphology def: "An abnormality of the line of Schwalbe." [https://orcid.org/0000-0002-0736-9199] comment: Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer. synonym: "Abnormality of the line of Schwalbe" EXACT [] xref: UMLS:C4021856 is_a: HP:0000481 ! Abnormal cornea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T12:12:00Z [Term] id: HP:0008049 name: Abnormality of the extraocular muscles def: "An abnormality of an extraocular muscle." [https://orcid.org/0000-0002-0736-9199] comment: There are six extraocular muscles that control the movements of the eye. xref: UMLS:C4024751 is_a: HP:0011805 ! Abnormal skeletal muscle morphology is_a: HP:0030669 ! Abnormal ocular adnexa morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T12:14:00Z [Term] id: HP:0008050 name: Abnormality of the palpebral fissures def: "An anomaly of the space between the medial and lateral canthi of the two open eyelids." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the palpebral fissures" EXACT layperson [] synonym: "Deformity of the palpebral fissures" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the palpebral fissures" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024750 is_a: HP:0000492 ! Abnormal eyelid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T01:22:00Z [Term] id: HP:0008051 name: obsolete Abnormality of the retinal pigment epithelium is_obsolete: true replaced_by: HP:0007703 [Term] id: HP:0008052 name: Retinal fold def: "A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy." [https://orcid.org/0000-0002-0736-9199] synonym: "Retinal folds" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:37480005 xref: UMLS:C0229197 is_a: HP:0000479 ! Abnormal retinal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T01:37:00Z [Term] id: HP:0008053 name: Aplasia/Hypoplasia of the iris def: "Absence or underdevelopment of the iris." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024748 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T01:50:00Z [Term] id: HP:0008054 name: Abnormal morphology of the conjunctival vasculature def: "Any abnormality of the blood vessels of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal morphology of the conjunctiva vasculature" EXACT [] synonym: "Abnormal vasculature of the conjunctiva morphology" EXACT [] synonym: "Abnormality of the vasculature of the conjunctiva" EXACT [] xref: UMLS:C4024747 is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0008047 ! Abnormality of the vasculature of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:04:00Z [Term] id: HP:0008055 name: Aplasia/Hypoplasia affecting the uvea def: "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/underdeveloped uvea" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024746 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:24:00Z [Term] id: HP:0008056 name: Aplasia/Hypoplasia affecting the eye synonym: "Absent/small eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024745 is_a: HP:0012372 ! Abnormal eye morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:25:00Z [Term] id: HP:0008057 name: Aplasia/Hypoplasia affecting the fundus synonym: "Absent/small fundus" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024744 is_a: HP:0001098 ! Abnormal fundus morphology is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:27:00Z [Term] id: HP:0008058 name: Aplasia/Hypoplasia of the optic nerve synonym: "Absent/small optic nerve" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped optic nerve" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024743 is_a: HP:0000587 ! Abnormal optic nerve morphology is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:28:00Z [Term] id: HP:0008059 name: Aplasia/Hypoplasia of the macula synonym: "Absent/underdeveloped macula" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024742 is_a: HP:0001103 ! Abnormal macular morphology is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:29:00Z [Term] id: HP:0008060 name: Aplasia/Hypoplasia of the fovea def: "Congenital absence or underdevelopment of the fovea centralis." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/underdeveloped fovea" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024741 is_a: HP:0000493 ! Abnormal foveal morphology is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008061 name: Aplasia/Hypoplasia of the retina synonym: "Absent/small retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024740 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008062 name: Aplasia/Hypoplasia affecting the anterior segment of the eye def: "Absence or underdevelopment of the anterior segment of the eye." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024739 is_a: HP:0007700 ! Ocular anterior segment dysgenesis is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008063 name: Aplasia/Hypoplasia of the lens def: "Absence or underdevelopment of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small lens" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped lens" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024738 is_a: HP:0000517 ! Abnormal lens morphology is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008064 name: Ichthyosis alt_id: HP:0000955 alt_id: HP:0007547 def: "An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization." [https://orcid.org/0000-0002-0736-9199] comment: The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. Ichthyosis can have a congenital onset or be acuqired, e.g., paraneoplastic ichthyosis. subset: hposlim_core synonym: "Hypertrophic ichthyosis" RELATED [] synonym: "Ichthyosiform abnormality of the skin" EXACT [] synonym: "Ichthyotic skin" EXACT [] xref: MEDDRA:10021198 "Ichthyosis" xref: UMLS:C0020757 is_a: HP:0011368 ! Epidermal thickening property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:41:00Z [Term] id: HP:0008065 name: Aplasia/Hypoplasia of the skin synonym: "Absent/small skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024737 is_a: HP:0011355 ! Localized skin lesion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:44:00Z [Term] id: HP:0008066 name: Abnormal blistering of the skin alt_id: HP:0007467 alt_id: HP:0007496 alt_id: HP:0200038 def: "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." [https://orcid.org/0000-0002-0736-9199, PMID:31596619] comment: A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. synonym: "Abnormal blistering of the skin" EXACT layperson [] synonym: "Blister" EXACT [] synonym: "Blistering, generalised" EXACT uk_spelling [] synonym: "Blistering, generalized" EXACT layperson [] synonym: "Blisters" EXACT layperson [] synonym: "Skin blisters" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Skin bullae" EXACT [] xref: UMLS:C0241054 xref: UMLS:C2132198 xref: UMLS:C2220104 is_a: HP:0011121 ! Abnormal skin morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:54:00Z [Term] id: HP:0008067 name: Abnormally lax or hyperextensible skin synonym: "Abnormally loose or hyperelastic skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormally loose or stretchable skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024736 is_a: HP:0010647 ! Abnormal elasticity of skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T03:56:00Z [Term] id: HP:0008069 name: Neoplasm of the skin def: "A tumor (abnormal growth of tissue) of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Dermatological tumors" EXACT [https://orcid.org/0009-0006-4530-3154] synonym: "Dermatological tumours" EXACT uk_spelling [] synonym: "Neoplasia of the skin" RELATED [] synonym: "Skin cancer" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Skin cancer (non-melanoma)" BROAD layperson [] synonym: "Skin tumors" EXACT layperson [] synonym: "Skin tumours" EXACT uk_spelling [] synonym: "Tumor of the skin" EXACT layperson [] synonym: "Tumour of the skin" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126488004 xref: SNOMEDCT_US:372130007 xref: UMLS:C0007114 xref: UMLS:C0037286 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0011793 ! Neoplasm by anatomical site property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T04:01:00Z [Term] id: HP:0008070 name: Sparse hair alt_id: HP:0001006 alt_id: HP:0002237 alt_id: HP:0002291 alt_id: HP:0002551 alt_id: HP:0004522 alt_id: HP:0004525 alt_id: HP:0004538 alt_id: HP:0004874 def: "Reduced density of hairs." [https://orcid.org/0000-0002-0736-9199, PMID:14676077] comment: This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. subset: hposlim_core synonym: "Decreased hair growth" EXACT [] synonym: "Decreased hair growth on body" EXACT [] synonym: "Hypotrichosis" EXACT [] synonym: "Marked hypotrichosis" EXACT [] synonym: "Sparse hair" EXACT layperson [] synonym: "Sparse hair since birth" EXACT [] synonym: "Thin, sparse hair" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: MEDDRA:10021126 xref: SNOMEDCT_US:53602002 xref: SNOMEDCT_US:56558005 xref: UMLS:C0020678 xref: UMLS:C1837770 xref: UMLS:C1860844 is_a: HP:0011362 ! Abnormal hair quantity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T04:11:00Z [Term] id: HP:0008071 name: Maternal hypertension def: "Increased blood pressure during a pregnancy." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:288250001 xref: UMLS:C0565599 is_a: HP:0100603 ! Toxemia of pregnancy [Term] id: HP:0008072 name: Maternal virilization in pregnancy def: "Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024735 is_a: HP:0002686 ! Pregnancy history [Term] id: HP:0008073 name: Low maternal circulating estriol concentration def: "An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age." [PMID:19038077] synonym: "Low maternal serum estriol" EXACT layperson [] xref: UMLS:C4024734 is_a: HP:0011436 ! Abnormal maternal serum screening [Term] id: HP:0008074 name: Metatarsal periosteal thickening xref: UMLS:C1834349 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0008075 name: obsolete Progressive pes cavus is_obsolete: true replaced_by: HP:0001761 [Term] id: HP:0008076 name: Osteoporotic tarsals def: "Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1836872 is_a: HP:0009132 ! Abnormal tarsal bone mineral density [Term] id: HP:0008078 name: Thin metatarsal cortices xref: UMLS:C1850162 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008079 name: Absent fifth metatarsal alt_id: HP:0010670 def: "A developmental abnormality characterized by the absence of the fifth metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent 5th long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent 5th metatarsals" EXACT [] synonym: "Aplasia of the fifth metatarsal bone" EXACT [] xref: UMLS:C1867932 is_a: HP:0010744 ! Absent metatarsal bone [Term] id: HP:0008080 name: Hallux varus def: "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially." [https://orcid.org/0000-0002-0736-9199] synonym: "Hitchhiker hallux" EXACT [] synonym: "Hyperabducted big toe" EXACT [] synonym: "Medially deviated halluces" EXACT [] xref: SNOMEDCT_US:274147008 xref: UMLS:C0546297 is_a: HP:0010051 ! Deviation of the hallux [Term] id: HP:0008081 name: Pes valgus def: "An outward deviation of the foot at the talocalcaneal or subtalar joint." [] comment: Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body. synonym: "Valgus foot deformity" EXACT [] xref: SNOMEDCT_US:249803006 xref: SNOMEDCT_US:275344002 xref: UMLS:C1578482 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0008082 name: Medial deviation of the foot xref: UMLS:C2673401 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0008083 name: 2nd-5th toe middle phalangeal hypoplasia synonym: "Underdeveloped 2nd-5th middle toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861376 is_a: HP:0003795 ! Short middle phalanx of toe [Term] id: HP:0008087 name: Nonossified fifth metatarsal def: "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1844712 is_a: HP:0008371 ! Abnormal metatarsal ossification [Term] id: HP:0008089 name: Abnormality of the fifth metatarsal bone def: "An anomaly of the fifth metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the 5th long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024733 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008090 name: Ankylosis of feet small joints xref: UMLS:C4024732 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0031013 ! Ankylosis [Term] id: HP:0008093 name: Short 4th toe def: "Underdevelopment (hypoplasia) of the fourth toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Short 4th toe" EXACT layperson [] synonym: "Short fourth toe" EXACT layperson [] xref: UMLS:C1862083 is_a: HP:0001831 ! Short toe [Term] id: HP:0008094 name: Widely spaced toes alt_id: HP:0008077 def: "An overall widening of the spaces between the digits." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap). synonym: "Widely spaced toes" EXACT layperson [] xref: UMLS:C1969238 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0008095 name: Osteolysis of talus def: "Osteolysis affecting the talus." [https://orcid.org/0009-0006-4530-3154] synonym: "Osteolysis of tali" EXACT [] xref: UMLS:C4021556 is_a: HP:0008365 ! Abnormal talus morphology is_a: HP:0009134 ! Osteolysis involving bones of the feet [Term] id: HP:0008096 name: Medially deviated second toe def: "Medial deviation of the second toe." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1862147 is_a: HP:0010326 ! Deviation of the 2nd toe [Term] id: HP:0008097 name: Partial fusion of tarsals xref: UMLS:C1844520 is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0008102 name: Expanded metatarsals with widened medullary cavities xref: UMLS:C1969289 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008103 name: Delayed tarsal ossification alt_id: HP:0008145 def: "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed ankle bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Tarsal delayed ossification" EXACT [] xref: UMLS:C1846853 xref: UMLS:C4280418 is_a: HP:0008369 ! Abnormal tarsal ossification [Term] id: HP:0008107 name: Plantar crease between first and second toes def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1867132 is_a: HP:0001869 ! Deep plantar creases [Term] id: HP:0008108 name: Advanced tarsal ossification alt_id: HP:0008137 def: "Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Accelerated ankle bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Precociously ossified tarsal bones" EXACT [] xref: UMLS:C1849293 xref: UMLS:C4280417 is_a: HP:0008369 ! Abnormal tarsal ossification [Term] id: HP:0008110 name: Equinovarus deformity xref: SNOMEDCT_US:249808002 xref: SNOMEDCT_US:397932003 xref: UMLS:C0009081 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0008111 name: Broad distal hallux synonym: "Broad distal big toe" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1863403 is_a: HP:0010055 ! Broad hallux [Term] id: HP:0008112 name: Plantar flexion contracture def: "A type of contracture in which the plantar flexion muscles are contracted." [] comment: Plantar flexion is the movement of the top of the foot away from the leg in a downward motion. With plantar flexion contracture, the abiliuty to passively or actively move the tip of the toe back closer to the leg is limited. synonym: "Plantar flexion contractures" EXACT plural_form [] xref: UMLS:C1861239 is_a: HP:0034677 ! Ankle contracture [Term] id: HP:0008113 name: Multiple plantar creases xref: UMLS:C1861873 is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0008114 name: Metatarsal diaphyseal endosteal sclerosis def: "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1840420 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0100925 ! Sclerosis of foot bone [Term] id: HP:0008115 name: Clinodactyly of the 3rd toe def: "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "3rd toe clinodactyly" EXACT [] synonym: "Curvature of 3rd toe" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021555 xref: UMLS:C4280416 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010332 ! Deviation of the 3rd toe [Term] id: HP:0008116 name: Flexion limitation of toes def: "Limitation of the ability to bend the toes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024731 is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0008117 name: Shortening of the talar neck xref: UMLS:C1843985 is_a: HP:0008365 ! Abnormal talus morphology [Term] id: HP:0008119 name: Deformed tarsal bones synonym: "Deformed ankle bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856746 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0008122 name: Calcaneonavicular fusion def: "Synostosis of the calcaneus with the navicular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024730 is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0008124 name: Talipes calcaneovarus def: "A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:30449003 xref: UMLS:C0265646 is_a: HP:0001883 ! Talipes [Term] id: HP:0008125 name: Second metatarsal posteriorly placed xref: UMLS:C1859224 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008127 name: Bipartite calcaneus alt_id: HP:0008104 alt_id: HP:0008130 alt_id: HP:0008146 def: "A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed coalescence of bipartite calcanei" EXACT [] synonym: "Delayed coalescence of calcaneal ossification centers" EXACT [] synonym: "Delayed coalescence of calcaneal ossification centres" EXACT uk_spelling [] synonym: "Delayed fusion of bipartite calcanei" EXACT [] synonym: "Double calcaneal ossification center" EXACT [] synonym: "Double calcaneal ossification centre" EXACT uk_spelling [] synonym: "Extra calcaneal ossification center" EXACT [] synonym: "Extra calcaneal ossification centre" EXACT uk_spelling [] xref: UMLS:C1835574 is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008131 name: Tarsal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Punctate calcifications of tarsals" EXACT [] synonym: "Punctate tarsal calcification" EXACT [] xref: UMLS:C1844848 is_a: HP:0008369 ! Abnormal tarsal ossification is_a: HP:0010766 ! Ectopic calcification is_a: HP:0031051 ! Tarsal sclerosis [Term] id: HP:0008132 name: Medial rotation of the medial malleolus xref: UMLS:C3805726 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0008133 name: Distal tapering of metatarsals xref: UMLS:C4024729 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008134 name: Irregular tarsal ossification alt_id: HP:0008140 def: "Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular ankle bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular tarsal centers" EXACT [] synonym: "Irregular tarsal centres" EXACT uk_spelling [] xref: UMLS:C4021554 xref: UMLS:C4280415 is_a: HP:0008369 ! Abnormal tarsal ossification [Term] id: HP:0008138 name: Equinus calcaneus def: "Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees." [https://orcid.org/0000-0002-0736-9199] synonym: "Equinus deformity of the calcaneus" EXACT [] synonym: "Hindfoot equinus" EXACT [] xref: UMLS:C1860449 is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008141 name: Dislocation of toes synonym: "Dislocation of toes" EXACT layperson [] xref: SNOMEDCT_US:263030002 xref: UMLS:C0434717 is_a: HP:0001780 ! Abnormal toe morphology is_a: HP:0030311 ! Lower extremity joint dislocation [Term] id: HP:0008142 name: Delayed calcaneal ossification def: "Delayed maturation and calcification of the calcaneus." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed heel bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024728 xref: UMLS:C4280414 is_a: HP:0008103 ! Delayed tarsal ossification is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008144 name: Flattening of the talar dome xref: UMLS:C1843986 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0008148 name: Impaired epinephrine-induced platelet aggregation def: "Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4024727 is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0008150 name: Elevated serum transaminases during infections def: "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1864179 is_a: HP:0002910 ! Elevated circulating hepatic transaminase concentration [Term] id: HP:0008151 name: Prolonged prothrombin time alt_id: HP:0012201 def: "Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT." [https://orcid.org/0000-0002-0736-9199, PMID:26351955, PMID:29939529] comment: The prothrombin time (PT) and the activated partial thromboplastin time (APTT) are the most requested tests to investigate patients with congenital or acquired coagulopathies and drug monitoring. They are defined as the time (seconds) needed to clot platelet-poor plasma upon addition of coagulation triggers, such as tissue factor in complex with phospholipids and calcium chloride (in the PT), or negatively charged phospholipids-activators and calcium chloride (in the APTT). They can hence be considered as global coagulation tests sensitive to deficiencies of many coagulation factors. In brief, they are both sensitive to factor X, V, II and fibrinogen, whereas the PT is only sensitive to factor VII deficiency and the APTT is sensitive to pre-kallikrein, high molecular weight kininogen (HMWK), factor XII, XI, IX and VIII deficiencies. Normal plasma in the PT clots approximately within 10-12 s upon triggering coagulation, and the normal reference range is (usually) narrow. PT results have been reported as clotting time, percentage activity, PT-ratio (patient-to-normal clotting time) and as international normalized ratio (INR). The INR scale has been devised to harmonize results stemming from different thromboplastins from patients on treatment with vitamin K antagonists. Some recommend abandoning the approach of using percentage activity to assess PR. synonym: "Increased INR" EXACT abbreviation [] synonym: "Increased international normalised ratio" EXACT uk_spelling [] synonym: "increased international normalised ratio" EXACT uk_spelling [] synonym: "Increased international normalized ratio" EXACT [] synonym: "Low factor II activity" EXACT [] synonym: "Prolonged PT" EXACT abbreviation [] synonym: "Reduced factor II activity" EXACT [] synonym: "Reduced prothrombin activity" EXACT [] xref: SNOMEDCT_US:409674002 xref: UMLS:C0151872 is_a: HP:0032199 ! Abnormal prothrombin time [Term] id: HP:0008153 name: Periodic hypokalemic paresis def: "Episodes of muscle weakness associated with reduced levels of potassium in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypokalemic periodic paresis" EXACT [] xref: UMLS:C4021553 is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0008155 name: Mucopolysacchariduria alt_id: HP:0003567 def: "Excessive amounts of mucopolysaccharide in the urine." [https://orcid.org/0000-0002-0736-9199] comment: This finding is suggestive of the diagnosis of a mucopolysaccharidosis. xref: UMLS:C4024726 is_a: HP:0003541 ! Urinary glycosaminoglycan excretion [Term] id: HP:0008158 name: Hyperapobetalipoproteinemia def: "Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein." [https://orcid.org/0000-0002-0736-9199, PMID:6579550] xref: SNOMEDCT_US:238040008 xref: SNOMEDCT_US:299465007 xref: UMLS:C0020474 is_a: HP:0003119 ! Abnormal circulating lipid concentration [Term] id: HP:0008160 name: 3-hydroxydicarboxylic aciduria def: "The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024725 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008161 name: Absent leukocyte alkaline phosphatase def: "Alkaline phosphatase levels measured within leukocytes is below detectable levels." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent leukocyte ALP" EXACT abbreviation [] xref: UMLS:C4024724 is_a: HP:0004852 ! Reduced leukocyte alkaline phosphatase [Term] id: HP:0008162 name: Asymptomatic hyperammonemia def: "An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperammonemia, asymptomatic" EXACT [] xref: UMLS:C4021552 is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008163 name: Decreased circulating cortisol level alt_id: HP:0000874 alt_id: HP:0003291 alt_id: HP:0004317 alt_id: HP:0008220 def: "Abnormally reduced concentration of cortisol in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased cortisol production" EXACT [] synonym: "Glucocorticoid insufficiency" EXACT [] synonym: "Hypocortisolemia" EXACT [] synonym: "Hypocortisolism" RELATED [] synonym: "Low blood cortisol level" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Low to undetectable plasma cortisol" EXACT [] synonym: "Plasma cortisol low" EXACT [] xref: UMLS:C1833054 xref: UMLS:C1836623 xref: UMLS:C1846225 is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0008165 name: obsolete Decreased helper T cell proportion is_obsolete: true replaced_by: HP:0032218 [Term] id: HP:0008166 name: Decreased beta-galactosidase activity alt_id: HP:0003644 alt_id: HP:0008300 def: "Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma." [HPO_CONTRIBUTOR:gcarletti] synonym: "Beta-galactosidase deficiency in fibroblasts and white blood cells" EXACT [] synonym: "Beta-galactosidase-1 deficiency" EXACT [] synonym: "Decreased beta galactosidase activity" EXACT [] xref: SNOMEDCT_US:238025006 xref: UMLS:C0085131 xref: UMLS:C1854788 xref: UMLS:C1856559 is_a: HP:0004342 ! Abnormal galactosidase enyzme activity [Term] id: HP:0008167 name: Very long chain fatty acid accumulation xref: UMLS:C3279397 is_a: HP:0032243 ! Abnormal tissue metabolite concentration [Term] id: HP:0008169 name: Reduced factor VII activity def: "Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X." [https://orcid.org/0000-0002-0736-9199] synonym: "Factor VII deficiency" RELATED [] xref: SNOMEDCT_US:37193007 xref: UMLS:C0015503 xref: UMLS:C4024722 is_a: HP:0010988 ! Abnormality of the extrinsic pathway [Term] id: HP:0008176 name: Neonatal unconjugated hyperbilirubinemia xref: SNOMEDCT_US:281611002 xref: UMLS:C0559506 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008178 name: Abnormal cartilage matrix xref: UMLS:C4024721 is_a: HP:0002763 ! Abnormal cartilage morphology [Term] id: HP:0008179 name: Decreased Arden ratio of electrooculogram def: "An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased Arden ratio of EOG" EXACT abbreviation [] xref: UMLS:C4024720 is_a: HP:0030454 ! Abnormal electrooculogram [Term] id: HP:0008180 name: Mildly elevated creatine kinase alt_id: HP:0003211 comment: 'has part' some ('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal)) synonym: "Mildly elevated CPK" EXACT abbreviation [] synonym: "Mildly elevated creatine phosphokinase" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Mildly elevated serum CK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Mildly elevated serum CPK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Mildly elevated serum phospho-CK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Mildly increased creatine kinase" EXACT [] synonym: "Mildly increased serum creatine kinase" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Moderately elevated serum CK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Moderately elevated serum CPK" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Moderately increased serum creatine kinase" EXACT [] xref: UMLS:C1850309 is_a: HP:0003236 ! Elevated circulating creatine kinase concentration [Term] id: HP:0008181 name: Abetalipoproteinemia def: "An absence of low-density lipoprotein cholesterol in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. xref: SNOMEDCT_US:190787008 xref: UMLS:C0000744 is_a: HP:0003563 ! Decreased LDL cholesterol concentration [Term] id: HP:0008182 name: Adrenocortical hypoplasia synonym: "Small adrenal cortex" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024719 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008185 name: Precocious puberty in males def: "The onset of puberty before the age of 9 years in boys." [https://orcid.org/0000-0002-0736-9199] synonym: "Early onset of puberty in males" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Male precocious puberty" EXACT [] xref: UMLS:C1859979 is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008186 name: Adrenocortical cytomegaly def: "The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex." [https://orcid.org/0000-0002-0736-9199] comment: This feature is common in Beckwith Wiedemann syndrome. xref: UMLS:C1851720 is_a: HP:0011732 ! Abnormal adrenal morphology [Term] id: HP:0008187 name: Absence of secondary sex characteristics alt_id: HP:0008674 def: "No secondary sexual characteristics are present at puberty." [https://orcid.org/0000-0002-0736-9199] synonym: "No secondary sexual characteristics at puberty" EXACT [] xref: UMLS:C4021551 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008188 name: Thyroid dysgenesis def: "Thyroid dysgenesis is a descriptive term that should be avoided if more precise information is available. However, the HPO keeps retains this term because it is commonly used in the medical literature. In humans, the process of thyroid morphogenesis occurs from the 3rd to 16th week of gestation. Alterations occurring during this period may result in a thyroid gland that is absent (thyroid agenesis or athyreosis), hypoplastic (thyroid hypoplasia), or located in an unusual position (thyroid ectopy). All these entities are grouped under the term thyroid dysgenesis." [PMID:23698639] synonym: "Thyroid dysplasia" EXACT [] xref: UMLS:C1563716 is_a: HP:0011772 ! Abnormal thyroid morphology [Term] id: HP:0008189 name: Insulin insensitivity def: "Decreased sensitivity toward insulin." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1864570 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0008191 name: Thyroid agenesis def: "The congenital absence of the thyroid gland." [https://orcid.org/0000-0002-0736-9199, PMID:2918525] synonym: "Athyroidal hypothyroidism" RELATED [] xref: UMLS:C0749420 xref: UMLS:C4020805 is_a: HP:0033079 ! Aplasia/Hypoplasia of the thyroid gland [Term] id: HP:0008193 name: Primary gonadal insufficiency xref: UMLS:C1859014 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008194 name: Multiple pancreatic beta-cell adenomas def: "The presence of multiple pancreatic islet cell adenomas." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024718 is_a: HP:0008261 ! Pancreatic islet cell adenoma [Term] id: HP:0008197 name: Absence of pubertal development xref: UMLS:C1846228 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008198 name: Congenital hypoparathyroidism alt_id: HP:0008199 alt_id: HP:0008201 def: "Deficiency of parathyroid hormone with congenital onset." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Neonatal hypoparathyroidism" EXACT [] xref: UMLS:C1455734 is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008200 name: Primary hyperparathyroidism alt_id: HP:0008254 def: "A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:36348003 xref: UMLS:C0221002 is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0008202 name: Reduced circulating prolactin concentration def: "A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199, PMID:23378139] synonym: "Prolactin deficiency" EXACT [] xref: SNOMEDCT_US:67873006 xref: UMLS:C0271586 is_a: HP:0040086 ! Abnormal prolactin level [Term] id: HP:0008204 name: Precocious puberty with Sertoli cell tumor synonym: "Precocious puberty with Sertoli cell tumour" EXACT uk_spelling [] xref: UMLS:C1868007 is_a: HP:0000826 ! Precocious puberty is_a: HP:0100619 ! Sertoli cell neoplasm [Term] id: HP:0008205 name: Insulin-dependent but ketosis-resistant diabetes def: "Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1842404 is_a: HP:0005978 ! Type II diabetes mellitus [Term] id: HP:0008207 name: Primary adrenal insufficiency alt_id: HP:0000862 alt_id: HP:0008219 alt_id: HP:0008252 def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." [https://orcid.org/0000-0002-0736-9199] comment: Deficiency of both glucocorticoids and mineralocorticoids. synonym: "Addison disease" RELATED [] synonym: "Addison's disease" RELATED [] synonym: "Adrenocortical insufficiency" EXACT [] synonym: "Primary adrenocortical failure" EXACT [] xref: SNOMEDCT_US:363732003 xref: SNOMEDCT_US:373662000 xref: SNOMEDCT_US:386584007 xref: UMLS:C0001403 xref: UMLS:C0405580 is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008208 name: Parathyroid hyperplasia def: "Hyperplasia of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199] comment: An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands. synonym: "Enlarged parathyroid glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:9092004 xref: UMLS:C0271844 is_a: HP:0011766 ! Abnormal parathyroid morphology [Term] id: HP:0008209 name: Premature ovarian insufficiency alt_id: HP:0001587 alt_id: HP:0100805 def: "Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea." [https://orcid.org/0000-0002-0736-9199] comment: The causes of primary ovarian insufficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years). synonym: "Climacterium praecox" EXACT [] synonym: "Early menopause" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypergonadotropic amenorrhea" EXACT [] synonym: "Menopause praecox" EXACT [] synonym: "Premature menopause" EXACT layperson [] synonym: "Premature ovarian failure" EXACT layperson [] synonym: "Primary ovarian insufficiency" EXACT [] xref: SNOMEDCT_US:373717006 xref: UMLS:C0025322 xref: UMLS:C0085215 is_a: HP:0031066 ! Abnormal ovarian physiology [Term] id: HP:0008211 name: Parathyroid agenesis def: "Aplasia of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Parathyroid absence" EXACT [] synonym: "Parathyroid aplasia" EXACT [] xref: SNOMEDCT_US:73291005 xref: UMLS:C1321907 is_a: HP:0011768 ! Parathyroid dysgenesis [Term] id: HP:0008213 name: Gonadotropin deficiency alt_id: HP:0008192 def: "A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH)." [https://orcid.org/0000-0002-0538-4547] synonym: "Pituitary gonadotropin deficiency" EXACT [] xref: SNOMEDCT_US:33927004 xref: UMLS:C0271623 is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0008214 name: Decreased serum estradiol def: "A reduction below normal concentration of estradiol in the circulation." [] synonym: "Decreased serum estradiol" EXACT layperson [] xref: SNOMEDCT_US:166449002 xref: UMLS:C0241011 is_a: HP:0025133 ! Abnormal serum estradiol [Term] id: HP:0008216 name: Adrenal gland dysgenesis def: "Abnormal development of the adrenal gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Adrenal gland dysplasia" EXACT [] synonym: "Dysplastic adrenal glands" EXACT [] xref: UMLS:C1856017 is_a: HP:0011732 ! Abnormal adrenal morphology [Term] id: HP:0008221 name: Adrenal hyperplasia def: "Enlargement of the adrenal gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Enlarged adrenal glands" EXACT layperson [] xref: SNOMEDCT_US:419920004 xref: UMLS:C1621895 is_a: HP:0011732 ! Abnormal adrenal morphology [Term] id: HP:0008222 name: Female infertility synonym: "Female infertility" EXACT layperson [] xref: SNOMEDCT_US:6738008 xref: UMLS:C0021361 is_a: HP:0000789 ! Infertility is_a: HP:0000868 ! Decreased fertility in females [Term] id: HP:0008223 name: Compensated hypothyroidism def: "Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4)." [PMID:28406057] synonym: "Mild hypothyroidism" EXACT [] synonym: "Subclinical hypothyroidism" EXACT [PMID:28406057] xref: SNOMEDCT_US:237523006 xref: UMLS:C0342162 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008225 name: Thyroid follicular hyperplasia xref: UMLS:C1969546 is_a: HP:0008249 ! Thyroid hyperplasia [Term] id: HP:0008226 name: Androgen insufficiency def: "Insufficient amount of androgenic activity." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoandrogenism" EXACT [] xref: SNOMEDCT_US:38825009 xref: UMLS:C0342527 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008227 name: Pituitary resistance to thyroid hormone def: "A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:360348000 xref: SNOMEDCT_US:360353005 xref: UMLS:C0342198 is_a: HP:0011747 ! Abnormality of the anterior pituitary [Term] id: HP:0008229 name: Thyroid lymphangiectasia alt_id: HP:0008235 def: "The presence of lymphangiectasis of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] comment: A stretching and widening of the lymphatic vessels of the thyroid gland. synonym: "Thyroid lymphangiectasis" EXACT [] xref: UMLS:C1856129 is_a: HP:0011772 ! Abnormal thyroid morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0008230 name: obsolete Decreased testosterone in males property_value: terms:creator https://orcid.org/0000-0002-5316-1399 is_obsolete: true replaced_by: HP:0040171 [Term] id: HP:0008231 name: Macronodular adrenal hyperplasia xref: SNOMEDCT_US:237778003 xref: UMLS:C0342495 is_a: HP:0008221 ! Adrenal hyperplasia [Term] id: HP:0008232 name: Elevated circulating follicle stimulating hormone level alt_id: HP:0008324 def: "An elevated concentration of follicle-stimulating hormone in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated follicle stimulating hormone" EXACT [] synonym: "Elevated follicle-stimulating hormone" EXACT [] synonym: "Elevated FSH level" EXACT abbreviation [] synonym: "Elevated plasma follicle stimulating hormone" EXACT [] synonym: "Increased circulating follicle stimulating hormone level" EXACT [] xref: UMLS:C4021550 is_a: HP:0000837 ! Increased circulating gonadotropin level is_a: HP:0030346 ! Abnormal circulating follicle-stimulating hormone concentration [Term] id: HP:0008233 name: Decreased circulating progesterone def: "An reduced concentration of progesterone in the blood." [] comment: Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle. synonym: "Decreased serum progesterone" EXACT layperson [] xref: UMLS:C1858995 is_a: HP:0031212 ! Abnormal circulating progesterone level [Term] id: HP:0008236 name: Isosexual precocious puberty xref: SNOMEDCT_US:4294006 xref: UMLS:C0271528 is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008237 name: Hypothalamic hypothyroidism def: "A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity." [https://orcid.org/0000-0002-0736-9199, PMID:18731015] comment: The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism. TRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease. synonym: "Tertiary hypothyroidism" EXACT [] xref: SNOMEDCT_US:37429009 xref: UMLS:C0220998 is_a: HP:0011787 ! Central hypothyroidism is_a: HP:0012285 ! Abnormal hypothalamus physiology [Term] id: HP:0008239 name: Adrenal medullary hypoplasia def: "Developmental hypoplasia of the adrenal medulla." [https://orcid.org/0000-0002-0736-9199] synonym: "Small adrenal medulla" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024717 is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008240 name: Secondary growth hormone deficiency xref: UMLS:C4024716 is_a: HP:0000824 ! Decreased response to growth hormone stimulation test [Term] id: HP:0008242 name: Pseudohypoaldosteronism alt_id: HP:0008228 def: "A state of renal tubular unresponsiveness or resistance to the action of aldosterone." [https://orcid.org/0000-0002-0736-9199] comment: Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism. xref: SNOMEDCT_US:77098009 xref: UMLS:C0033805 is_a: HP:0011733 ! Abnormality of adrenal physiology [Term] id: HP:0008244 name: Congenital adrenal hypoplasia alt_id: HP:0008246 def: "A type of adrenal hypoplasia with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital adrenal gland hypoplasia" EXACT [] xref: SNOMEDCT_US:93235007 xref: UMLS:C0220766 is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008245 name: Pituitary hypothyroidism alt_id: HP:0008248 def: "A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion." [https://orcid.org/0000-0002-0736-9199] synonym: "Low thyroid gland function due to abnormal pituitary gland" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Secondary hypothyroidism" EXACT [] synonym: "Thyroid stimulating hormone deficiency" EXACT [] synonym: "Thyrotropin deficiency" EXACT [] synonym: "TSH deficient hypothyroidism" EXACT [] xref: SNOMEDCT_US:82598004 xref: UMLS:C3665349 is_a: HP:0000830 ! Anterior hypopituitarism is_a: HP:0011787 ! Central hypothyroidism [Term] id: HP:0008247 name: Euthyroid hyperthyroxinemia alt_id: HP:0008212 def: "Increased levels of thyroxine without evidence of clinical thyroid disease." [eMedicine:118562, https://orcid.org/0000-0002-0736-9199] comment: Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone. synonym: "Asymptomatic hyperthyroxinemia" EXACT [] xref: UMLS:C4021549 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0008249 name: Thyroid hyperplasia def: "Hyperplasia of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Large thyroid" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1112776 is_a: HP:0011772 ! Abnormal thyroid morphology [Term] id: HP:0008250 name: obsolete Infantile hypercalcemia is_obsolete: true replaced_by: HP:0003072 [Term] id: HP:0008251 name: Congenital goiter def: "An enlargement of the thyroid gland with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital goitre" EXACT uk_spelling [] xref: SNOMEDCT_US:276565004 xref: UMLS:C0349476 is_a: HP:0000853 ! Goiter [Term] id: HP:0008255 name: Transient neonatal diabetes mellitus xref: SNOMEDCT_US:237603002 xref: UMLS:C0342273 is_a: HP:0000857 ! Neonatal insulin-dependent diabetes mellitus [Term] id: HP:0008256 name: Adrenocortical adenoma alt_id: HP:0008196 def: "Adrenocortical adenomas are benign tumors of the adrenal cortex." [https://orcid.org/0000-0002-0736-9199, PMID:17287480] synonym: "Adrenocortical adenomas" EXACT [] xref: SNOMEDCT_US:18365006 xref: SNOMEDCT_US:255036008 xref: SNOMEDCT_US:302826002 xref: UMLS:C0206667 is_a: HP:0100641 ! Neoplasm of the adrenal cortex [Term] id: HP:0008258 name: Congenital adrenal hyperplasia def: "A type of adrenal hyperplasia with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:237751000 xref: UMLS:C0001627 is_a: HP:0008221 ! Adrenal hyperplasia [Term] id: HP:0008259 name: Adrenocorticotropin receptor defect def: "Adrenal insufficiency secondary to a defect in the ACTH receptor." [https://orcid.org/0000-0002-0538-4547] synonym: "ACTH receptor defect" EXACT [] synonym: "ACTHR defect" EXACT [] synonym: "Adrenocorticotropic hormone-resistant adrenal insufficiency" EXACT [] xref: UMLS:C4021548 is_a: HP:0011734 ! Central adrenal insufficiency [Term] id: HP:0008261 name: Pancreatic islet cell adenoma def: "The presence of an adenoma of the pancreas with origin in a pancreatic B cell." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1851697 is_a: HP:0002894 ! Neoplasm of the pancreas is_a: HP:0006476 ! Abnormality of the pancreatic islet cells is_a: HP:0030405 ! Pancreatic endocrine tumor [Term] id: HP:0008263 name: Thyroid defect in oxidation and organification of iodide xref: UMLS:C1848800 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0008264 name: Neutrophil inclusion bodies alt_id: HP:0001932 def: "The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4021547 is_a: HP:0011992 ! Abnormal neutrophil morphology [Term] id: HP:0008265 name: Mitochondrial lysine transport defect xref: UMLS:C4024715 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008269 name: Increased red cell hemolysis by shear stress xref: UMLS:C3806125 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0008271 name: Abnormal cartilage collagen def: "Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix." [https://orcid.org/0000-0002-0736-9199, PMID:11879535, PMID:7757081, PMID:9468540] synonym: "Abnormal hyaline collagen" RELATED [] synonym: "Abnormal type II collagen" RELATED [] xref: UMLS:C4020803 xref: UMLS:C4020804 xref: UMLS:C4021847 is_a: HP:0002763 ! Abnormal cartilage morphology [Term] id: HP:0008272 name: Renal tubular lysine transport defect xref: UMLS:C4024714 is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008273 name: Transient aminoaciduria xref: UMLS:C4024713 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008275 name: Abnormal light-adapted electroretinogram synonym: "Abnormal cone-mediated electroretinogram" EXACT [] xref: UMLS:C4024712 is_a: HP:0030466 ! Abnormal full-field electroretinogram [Term] id: HP:0008277 name: Abnormal blood zinc concentration def: "An abnormality of zinc ion homeostasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal zinc metabolism" RELATED [] synonym: "Abnormality of zinc homeostasis" EXACT [] xref: UMLS:C4020802 xref: UMLS:C4024711 is_a: HP:0011030 ! Abnormal blood transition element cation concentration [Term] id: HP:0008278 name: Cerebellar cortical atrophy def: "Atrophy (wasting) of the cerebellar cortex." [https://orcid.org/0000-0002-0736-9199] comment: Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells. synonym: "Cerebellar cortex degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024710 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0008279 name: Transient hyperlipidemia xref: UMLS:C1850722 is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008281 name: Acute hyperammonemia def: "An increased concentration of ammonia in the blood with sudden onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperammonemia, acute" EXACT [] xref: UMLS:C1859506 is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008282 name: Unconjugated hyperbilirubinemia alt_id: HP:0008289 def: "An increased amount of unconjugated (indirect) bilurubin in the blood." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:7752002 xref: UMLS:C0268306 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008283 name: Fasting hyperinsulinemia def: "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood insulin levels while fasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1864954 is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0008285 name: Transient hypophosphatemia xref: UMLS:C4024709 is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008288 name: Nonketotic hyperglycinemia xref: SNOMEDCT_US:237939006 xref: UMLS:C0751748 is_a: HP:0002154 ! Hyperglycinemia [Term] id: HP:0008290 name: Partial complement factor H deficiency def: "A partial reduction in level of the complement component Factor H in circulation." [https://emedicine.medscape.com/article/135478-overview] xref: UMLS:C4024708 is_a: HP:0005369 ! Decreased circulating complement factor H concentration [Term] id: HP:0008291 name: Pituitary corticotropic cell adenoma def: "A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH)." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "ACTH-producing pituitary adenoma" EXACT [] synonym: "Corticotropin-secreting pituitary adenoma" EXACT [] xref: SNOMEDCT_US:21109002 xref: SNOMEDCT_US:254958004 xref: UMLS:C1306214 is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0008293 name: Long-chain dicarboxylic aciduria def: "An increase in the level of long-chain dicarboxylic acid in the urine." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837273 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008297 name: Transient hyperphenylalaninemia def: "A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:28575006 xref: UMLS:C0268464 is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration [Term] id: HP:0008301 name: Dermatan sulfate excretion in urine def: "An increased concentration of dermatan sulfate in the urine." [HPO_CONTRIBUTOR:gcarletti] comment: Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs. synonym: "Dermatan sulphate excretion in urine" EXACT uk_spelling [] xref: UMLS:C1854774 is_a: HP:0008155 ! Mucopolysacchariduria [Term] id: HP:0008303 name: Olivary degeneration def: "Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024707 is_a: HP:0011441 ! Abnormal medulla oblongata morphology [Term] id: HP:0008305 name: Exercise-induced myoglobinuria alt_id: HP:0008319 def: "Presence of myoglobin in the urine following exercise." [https://orcid.org/0000-0002-0736-9199] synonym: "Exercise-induced myoglobinuria in adults" RELATED [] xref: UMLS:C1845155 xref: UMLS:C1860069 is_a: HP:0002913 ! Myoglobinuria [Term] id: HP:0008306 name: Abnormal iron deposition in mitochondria xref: UMLS:C3151556 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008309 name: Medium chain dicarboxylic aciduria def: "An increase in the level of medium chain dicarboxylic acid in the urine." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1860081 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008311 name: Spinal cord posterior columns myelin loss xref: UMLS:C4024706 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0008314 name: Decreased activity of mitochondrial complex II def: "A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory complex II deficiency" RELATED [] xref: UMLS:C4020801 xref: UMLS:C4024705 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain [Term] id: HP:0008315 name: Decreased plasma free carnitine def: "A decreased concentration of free (unbound) carnitine in the blood." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4015009 is_a: HP:0003234 ! Decreased circulating carnitine concentration [Term] id: HP:0008316 name: Abnormal mitochondria in muscle tissue def: "An abnormality of the mitochondria in muscle tissue." [https://orcid.org/0000-0002-0736-9199] comment: This finding is typically demonstrated by muscle biopsy. synonym: "Abnormal mitochondria in muscle" EXACT [] xref: UMLS:C4021546 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0008318 name: Elevated leukocyte alkaline phosphatase def: "Increased alkaline phosphatase measured within leukocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated leukocyte ALP" EXACT abbreviation [] xref: UMLS:C4024704 is_a: HP:0003155 ! Elevated circulating alkaline phosphatase concentration [Term] id: HP:0008320 name: Impaired collagen-induced platelet aggregation def: "Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics." [https://orcid.org/0000-0002-4381-2442] xref: UMLS:C4024703 is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0008321 name: Reduced factor X activity def: "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased factor x activity" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Factor X deficiency" RELATED [] xref: SNOMEDCT_US:76642003 xref: UMLS:C0015519 xref: UMLS:C4024702 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0008322 name: Abnormal mitochondrial morphology def: "Any structural anomaly of the mitochondria." [https://orcid.org/0000-0002-0736-9199] comment: This feature may be assessed by means of electron microscopy. synonym: "Abnormal mitochondrion morphology" EXACT [] xref: UMLS:C4014650 is_a: HP:0012103 ! Abnormality of the mitochondrion [Term] id: HP:0008323 name: Abnormal light- and dark-adapted electroretinogram def: "An abnormality of the combined rod-and-cone response on electroretinogram." [https://orcid.org/0000-0002-0736-9199] comment: The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response. synonym: "Abnormal rod and cone electroretinogram" EXACT [] xref: UMLS:C3151111 is_a: HP:0030466 ! Abnormal full-field electroretinogram [Term] id: HP:0008326 name: Reduced circulating vitamin B6 circulating def: "An abnormally decreased concentration of vitamin B6 in the blood circulation." [] synonym: "Reduced circulating vitamin B6 level" EXACT [] synonym: "Reduced vitamin b6 levels" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Vitamin B6 deficiency" EXACT layperson [] xref: SNOMEDCT_US:386080007 xref: UMLS:C0936215 is_a: HP:0032476 ! Abnormal circulating vitamin B6 concentration [Term] id: HP:0008327 name: Microscopic nephrocalcinosis def: "The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma." [https://orcid.org/0000-0002-0736-9199] comment: The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis). xref: SNOMEDCT_US:236444003 xref: UMLS:C0403474 is_a: HP:0000121 ! Nephrocalcinosis [Term] id: HP:0008330 name: Reduced von Willebrand factor activity def: "Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [https://orcid.org/0000-0002-0736-9199, PMID:19694940] comment: Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA). synonym: "Decreased von willebrand factor activity" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024701 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0008331 name: Elevated creatine kinase after exercise synonym: "Elevated CK after exercise" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated CPK after exercise" EXACT abbreviation [] synonym: "Elevated creatine phosphokinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, https://orcid.org/0000-0001-6908-9849] synonym: "Elevated phospho-CK after exercise" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated phospho-creatine kinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, https://orcid.org/0000-0001-6908-9849] synonym: "Increased CK after exercise" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Increased creatine kinase after exercise" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Increased creatine phosphokinase after exercise" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Increased phospho-CK after exercise" EXACT [http://purl.obolibrary.org/obo/hp#abbreviation, https://orcid.org/0000-0001-7941-2961] synonym: "Increased phospho-creatine kinase after exercise" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024700 is_a: HP:0003236 ! Elevated circulating creatine kinase concentration [Term] id: HP:0008335 name: obsolete Renal aminoaciduria xref: UMLS:C0002534 is_obsolete: true replaced_by: HP:0003355 [Term] id: HP:0008336 name: Complex organic aciduria xref: UMLS:C3151953 is_a: HP:0001992 ! Organic aciduria [Term] id: HP:0008338 name: Partial functional complement factor D deficiency def: "A partial reduction in level of the complement component Factor D in circulation." [] synonym: "Partial functional adipsin deficiency" EXACT [https://en.wikipedia.org/wiki/Factor_D, https://orcid.org/0000-0001-6908-9849] synonym: "Partial functional factor d deficiency" EXACT [https://en.wikipedia.org/wiki/factor_d, https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024699 is_a: HP:0004431 ! Reduced circulating complement concentration [Term] id: HP:0008339 name: Diaminoaciduria def: "An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine)." [] xref: UMLS:C4024698 is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine [Term] id: HP:0008341 name: Distal renal tubular acidosis def: "A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Renal tubular acidosis, type I" EXACT [] xref: SNOMEDCT_US:236461000 xref: SNOMEDCT_US:86210009 xref: UMLS:C1704380 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0008344 name: Elevated circulating branched chain amino acid concentration def: "Concentration of a branched chain amino acid in the blood above the upper limit of normal." [HPO_CONTRIBUTOR:gcarletti] xref: UMLS:C4024697 is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration [Term] id: HP:0008345 name: Hypoplasia of the iris dilator muscle def: "Underdevelopment of the dilatator pupillae." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of the pupil dilator muscle" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Underdeveloped iris dilator muscle" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Underdeveloped pupil dilator muscle" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024696 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0008346 name: Increased red cell sickling tendency synonym: "Increased sickling of erythrocytes" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Increased sickling of red cells" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024695 is_a: HP:0011895 ! Anemia due to reduced life span of red cells [Term] id: HP:0008347 name: Decreased activity of mitochondrial complex IV def: "A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory complex IV deficiency" RELATED [] xref: UMLS:C4020800 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain [Term] id: HP:0008348 name: Decreased circulating IgG2 concentration alt_id: HP:0008310 def: "A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased circulating IgG2 level" EXACT [] synonym: "Decreased IgG2 level in blood" EXACT [] synonym: "Immunoglobulin IgG2 deficiency" EXACT [] synonym: "Reduced IgG2 levels" EXACT [] xref: UMLS:C4021545 is_a: HP:0032135 ! Decreased circulating IgG subclass concentration [Term] id: HP:0008352 name: Impaired platelet adhesion def: "An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation." [https://orcid.org/0000-0002-0736-9199] synonym: "Impaired thrombocytes adhesion" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024694 is_a: HP:0011869 ! Abnormal platelet function [Term] id: HP:0008353 name: Neutral hyperaminoaciduria def: "The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine." [PMID:30177408] xref: UMLS:C1856194 is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine [Term] id: HP:0008354 name: Factor X activation deficiency def: "Reduced ability to transform factor X into its activated form factor Xa." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024693 is_a: HP:0008321 ! Reduced factor X activity [Term] id: HP:0008356 name: obsolete Combined hyperlipidemia is_obsolete: true consider: HP:0003077 [Term] id: HP:0008357 name: Reduced factor XIII activity def: "Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024692 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0008358 name: Hyperprolinemia def: "An increased concentration of proline in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Prolinemia" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:59655002 xref: UMLS:C0268528 is_a: HP:0010907 ! Abnormal circulating proline concentration [Term] id: HP:0008360 name: Neonatal hypoproteinemia def: "A neonatal decreased concentration of proteins in the blood." [HPO_CONTRIBUTOR:gcarletti] xref: UMLS:C4024691 is_a: HP:0003075 ! Hypoproteinemia [Term] id: HP:0008361 name: Corticospinal tract pallor xref: UMLS:C4024690 is_a: HP:0002492 ! Abnormal corticospinal tract morphology [Term] id: HP:0008362 name: Aplasia/Hypoplasia of the hallux alt_id: HP:0004694 alt_id: HP:0008118 alt_id: HP:0008126 def: "Absence or underdevelopment of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small big toe" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped big toe" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Aplastic/hypoplastic halluces" EXACT [] xref: UMLS:C1836213 is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0010760 ! Absent toe property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:33:00Z [Term] id: HP:0008363 name: Aplasia/Hypoplasia of the tarsal bones alt_id: HP:0008109 def: "Absence or underdevelopment of the tarsal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small ankle bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped ankle bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Aplastic/hypoplastic tarsals" EXACT [] xref: UMLS:C1848671 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:35:00Z [Term] id: HP:0008364 name: Abnormality of the calcaneus def: "An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal heel bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024689 is_a: HP:0001850 ! Abnormality of the tarsal bones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:38:00Z [Term] id: HP:0008365 name: Abnormal talus morphology def: "An abnormality of the talus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal large bone of ankle" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024688 is_a: HP:0001850 ! Abnormality of the tarsal bones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:43:00Z [Term] id: HP:0008366 name: Foot joint contracture alt_id: HP:0100492 def: "Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue." [] synonym: "Contractures involving the joints of the feet" EXACT [] synonym: "Contractures of the foot joints" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Joint contractures involving the joints of the feet" EXACT [] xref: SNOMEDCT_US:239742004 xref: UMLS:C0343149 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0005750 ! Lower-limb joint contracture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:44:00Z [Term] id: HP:0008368 name: Tarsal synostosis alt_id: HP:0001851 alt_id: HP:0001957 alt_id: HP:0008092 alt_id: HP:0100330 def: "Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones)." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused ankle bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Synostosis involving tarsal bones" EXACT [] synonym: "Synostosis of tarsal bones" EXACT [] synonym: "Tarsal bone fusion" EXACT [] synonym: "Tarsal bone synostosis" EXACT [] synonym: "Tarsal fusion" EXACT [] synonym: "Tarsal fusions" EXACT [] xref: SNOMEDCT_US:27173008 xref: UMLS:C0265654 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100266 ! Synostosis of carpals/tarsals property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:52:00Z [Term] id: HP:0008369 name: Abnormal tarsal ossification def: "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of ankle bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal ossification of tarsal bones" EXACT [] synonym: "Hardening of ankle bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021544 xref: UMLS:C4025075 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0010675 ! Abnormal foot bone ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:53:00Z [Term] id: HP:0008371 name: Abnormal metatarsal ossification def: "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of long bone of foot" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal ossification involving metatarsal bones" EXACT [] xref: UMLS:C4021543 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0010675 ! Abnormal foot bone ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T11:59:00Z [Term] id: HP:0008372 name: Abnormal circulating vitamin A concentration def: "Concentration of vitamin A in the blood circulation outside limits of normal." [] xref: UMLS:C4024686 is_a: HP:0100508 ! Abnormality of vitamin metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T12:29:00Z [Term] id: HP:0008373 name: Puberty and gonadal disorders alt_id: HP:0000827 synonym: "Puberty and gonadal disorders" EXACT layperson [] xref: UMLS:C4024685 is_a: HP:0000818 ! Abnormality of the endocrine system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T12:35:00Z [Term] id: HP:0008376 name: Nasal dysarthria synonym: "Breathy speech" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1834664 is_a: HP:0001260 ! Dysarthria property_value: terms:contributor https://orcid.org/0000-0001-5395-5036 property_value: terms:contributor https://orcid.org/0000-0001-6886-767X property_value: terms:contributor https://orcid.org/0000-0001-8423-2623 property_value: terms:contributor https://orcid.org/0000-0001-9114-8737 property_value: terms:contributor https://orcid.org/0000-0002-0375-6247 property_value: terms:contributor https://orcid.org/0000-0002-2414-5605 property_value: terms:contributor https://orcid.org/0000-0002-4487-3589 [Term] id: HP:0008383 name: Slow-growing nails alt_id: HP:0008411 def: "Nails whose growth is slower than normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Slow-growing nails" EXACT layperson [] xref: UMLS:C1835238 is_a: HP:0030807 ! Abnormal nail growth [Term] id: HP:0008386 name: Aplasia/Hypoplasia of the nails alt_id: HP:0008385 def: "Aplasia or developmental hypoplasia of the nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic nails" EXACT [] synonym: "Absent/small nails" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped nails" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Nail aplasia/hypoplasia" EXACT [] xref: UMLS:C1859077 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0008388 name: Abnormal toenail morphology def: "An anomaly of the toenail." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the toenail" EXACT layperson [] synonym: "Abnormality of the toenails" EXACT layperson [] xref: SNOMEDCT_US:700189007 xref: UMLS:C3839753 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0008390 name: Recurrent loss of toenails and fingernails def: "Repeated loss, or shedding, of the nails of the fingers and toes." [https://orcid.org/0000-0003-1773-4011] synonym: "Recurrent loss of toenails and fingernails" EXACT layperson [] synonym: "Recurrent shedding of toenails and fingernails" EXACT layperson [] xref: UMLS:C4021542 is_a: HP:0001806 ! Onycholysis [Term] id: HP:0008391 name: Dystrophic fingernails def: "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate." [https://orcid.org/0000-0002-0736-9199] synonym: "Poor fingernail formation" EXACT layperson [http://naildystrophy.com/, https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3551426 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0008392 name: Subungual hyperkeratosis def: "A thickening of the stratum corneum in the region beneath the nails." [https://orcid.org/0000-0002-0736-9199] synonym: "Thickened, discolored skin under nail" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Thickened, discoloured skin under nail" EXACT uk_spelling [] xref: SNOMEDCT_US:10165000 xref: UMLS:C0038605 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0009723 ! Abnormal subungual morphology [Term] id: HP:0008393 name: Congenital curved nail of fourth toe xref: UMLS:C4024684 is_a: HP:0008388 ! Abnormal toenail morphology [Term] id: HP:0008394 name: Congenital onychodystrophy synonym: "Congenital malformed nails" BROAD layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1393669 xref: UMLS:C4280413 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008396 name: Chronic monilial nail infection def: "Chronic infection of the nails by Candida species." [https://orcid.org/0000-0002-0736-9199] synonym: "Fungal infection of the nail" EXACT [] xref: UMLS:C4024683 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0008398 name: Hypoplastic fifth fingernail alt_id: HP:0200103 def: "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped fifth fingernail" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Underdeveloped fingernail of little finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Underdeveloped fingernail of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Underdeveloped fingernail of pinky finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024682 is_a: HP:0001804 ! Hypoplastic fingernail [Term] id: HP:0008399 name: Circumungual hyperkeratosis def: "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails." [https://orcid.org/0000-0002-0736-9199] synonym: "Thick skin around nails" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024681 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0100803 ! Abnormal periungual morphology [Term] id: HP:0008400 name: Onycholysis of distal fingernails def: "Detachment of the distal fingernails from the nail bed." [https://orcid.org/0000-0002-0736-9199] synonym: "Detachment of outermost fingernails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024680 is_a: HP:0040039 ! Onycholysis of fingernails [Term] id: HP:0008401 name: Onychogryphosis of toenails alt_id: HP:0008395 alt_id: HP:0008405 def: "Thickened toenails." [https://orcid.org/0000-0002-0736-9199] synonym: "Overgrowth and curving of toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024679 is_a: HP:0001805 ! Onychogryphosis [Term] id: HP:0008402 name: Ridged fingernail def: "Longitudinal, linear prominences in the fingernail plate." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] synonym: "Longitudinally grooved fingernails" EXACT layperson [] synonym: "Ridged fingernail" EXACT layperson [] synonym: "Ridged fingernails" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1849392 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0001807 ! Ridged nail [Term] id: HP:0008404 name: Nail dystrophy alt_id: HP:0008382 alt_id: HP:0008397 alt_id: HP:0008408 def: "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [PMID:19675700] comment: Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. synonym: "Dystrophic nails" EXACT [] synonym: "Onychodystrophy" EXACT [] synonym: "Poor nail formation" EXACT layperson [http://naildystrophy.com/, https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10028698 "Nail dystrophy" xref: SNOMEDCT_US:87065009 xref: UMLS:C0221260 is_a: HP:0001597 ! Abnormal nail morphology [Term] id: HP:0008407 name: Hyperconvex thumb nails synonym: "Tightly curved thumb nail" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1855290 is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0008410 name: Subungual hyperkeratotic fragments xref: UMLS:C1852311 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0009723 ! Abnormal subungual morphology [Term] id: HP:0008414 name: Lumbar kyphosis in infancy synonym: "Hunched back in infancy" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Round back in infancy" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1863423 is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0008416 name: Six lumbar vertebrae xref: UMLS:C1839279 is_a: HP:0002946 ! Supernumerary vertebrae [Term] id: HP:0008417 name: Vertebral hypoplasia alt_id: HP:0008431 def: "Small, underdeveloped vertebral bodies." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Underdeveloped vertebrae" EXACT layperson [] xref: SNOMEDCT_US:205456006 xref: UMLS:C0345394 is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008418 name: Squared-off platyspondyly xref: UMLS:C1849051 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0008419 name: Intervertebral disk degeneration def: "The presence of degenerative changes of intervertebral disk." [https://orcid.org/0000-0002-0736-9199] synonym: "Degeneration of intervertebral discs" EXACT uk_spelling [] synonym: "Degeneration of intervertebral disks" EXACT [] synonym: "Degenerative disc disease" EXACT uk_spelling [] synonym: "Degenerative disk disease" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Degenerative intervertebral disc" EXACT uk_spelling [] synonym: "Degenerative intervertebral disk" EXACT [] xref: SNOMEDCT_US:77547008 xref: UMLS:C0158266 is_a: HP:0005108 ! Abnormal intervertebral disk morphology [Term] id: HP:0008420 name: Punctate vertebral calcifications def: "The presence of punctiform calcification of the bone of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024678 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0008421 name: Tall lumbar vertebral bodies xref: UMLS:C1863313 is_a: HP:0004570 ! Increased vertebral height [Term] id: HP:0008422 name: Vertebral wedging def: "An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other." [https://orcid.org/0000-0002-0736-9199] synonym: "anterior wedging" EXACT [] synonym: "Wedge-shaped vertebrae" EXACT layperson [] synonym: "Wedged vertebrae" EXACT [] xref: UMLS:C1695776 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008423 name: Spinal dysplasia def: "The presence of developmental dysplasia of the vertebral column." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4021853 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008424 name: Hypoplastic 5th lumbar vertebrae synonym: "Underdeveloped 5th lumbar vertebrae" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1859366 is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008425 name: Cuboid-shaped thoracolumbar vertebral bodies xref: UMLS:C1855289 is_a: HP:0004634 ! Cuboid-shaped vertebral bodies [Term] id: HP:0008428 name: Vertebral clefting alt_id: HP:0000942 def: "Schisis (cleft or cleavage) of vertebral bodies." [https://orcid.org/0000-0002-0736-9199] comment: Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. synonym: "Vertebral clefts" EXACT [] xref: UMLS:C1855828 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008430 name: Anterior beaking of lumbar vertebrae alt_id: HP:0005664 def: "Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior tongue-like protrusion of lumbar vertebral bodies" EXACT [] xref: UMLS:C4021541 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0008432 name: Anterior wedging of L1 def: "An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024677 is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0008433 name: Reversed usual vertebral column curves xref: UMLS:C4024676 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008434 name: Hypoplastic cervical vertebrae alt_id: HP:0008415 synonym: "Cervical vertebrae hypoplasia" EXACT [] synonym: "Underdeveloped cervical vertebrae" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1835570 is_a: HP:0008417 ! Vertebral hypoplasia is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008435 name: Absent in utero ossification of vertebral bodies xref: UMLS:C1842698 is_a: HP:0004606 ! Unossified vertebral bodies [Term] id: HP:0008436 name: Absent/hypoplastic coccyx synonym: "Absent/small tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1856644 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0008437 name: Bifid thoracic vertebrae xref: UMLS:C2751478 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008438 name: Vertebral arch anomaly def: "A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra." [https://orcid.org/0000-0002-0736-9199] comment: A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments. synonym: "Vertebral arch abnormalities" EXACT [] xref: UMLS:C1835764 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008439 name: Lumbar hemivertebrae def: "Absence of one half of the vertebral body in the lumbar spine." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:93167001 xref: UMLS:C0432149 is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008440 name: C1-C2 vertebral abnormality def: "Any abnormality of the atlas and the axis." [https://orcid.org/0000-0002-0736-9199] comment: The atlas is the first cervical vertebral body and the axis is the second vertebral body. xref: UMLS:C4024675 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008441 name: Herniation of intervertebral nuclei def: "The presence of one or more herniated nucleus pulposus of intervertebral disk." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Herniated disc" BROAD uk_spelling [] synonym: "Herniated disk" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Herniated intervertebral nuclei" EXACT [] xref: SNOMEDCT_US:73589001 xref: UMLS:C0021818 xref: UMLS:C1832597 is_a: HP:0005108 ! Abnormal intervertebral disk morphology [Term] id: HP:0008442 name: Vertebral hyperostosis def: "Excessive growth of the bones of the vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1834057 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0100774 ! Hyperostosis [Term] id: HP:0008443 name: Neuropathic spinal arthropathy def: "A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures." [PMID:29755231] comment: Neuropathic spinal arthropathy presents almost exclusively in patients who have suffered traumatic spinal cord injury or less commonly, secondary to syringomyelia, meningocele, myelomeningocele, diabetes mellitus, peripheral neuropathies, anesthetic leprosy, congenital analgesia, Parkinson's disease, arachnoiditis, transverse myelitis, and others. synonym: "Charcot spinal arthropathy" EXACT [] synonym: "Spinal deformities" EXACT [] synonym: "Spinal neuroarthropathy" EXACT [] xref: SNOMEDCT_US:298380006 xref: UMLS:C0575157 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008444 name: Posterior wedging of vertebral bodies def: "An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back)." [https://orcid.org/0000-0002-0736-9199] synonym: "Posterior wedging" EXACT [] xref: UMLS:C1969679 is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0008445 name: Cervical spinal canal stenosis def: "An abnormal narrowing of the cervical spinal canal." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrow cervical spinal canal" EXACT [] xref: UMLS:C1844925 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0008447 name: Hypoplastic coccygeal vertebrae xref: UMLS:C2751480 is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008449 name: Progressive cervical vertebral spine fusion xref: UMLS:C1851129 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0008450 name: Narrow vertebral interpedicular distance alt_id: HP:0008426 alt_id: HP:0008448 alt_id: HP:0008474 def: "A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Interpedicular narrowing" EXACT [] synonym: "Narrow interpedicular space" EXACT [] synonym: "Narrow interpediculate distances" EXACT [] synonym: "Narrowing of interpediculate distances" EXACT [] xref: UMLS:C1832598 is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0008451 name: Posterior vertebral hypoplasia xref: UMLS:C1856780 is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008452 name: Wafer-thin platyspondyly xref: UMLS:C1865124 is_a: HP:0004565 ! Severe platyspondyly [Term] id: HP:0008453 name: Congenital kyphoscoliosis xref: SNOMEDCT_US:405772002 xref: UMLS:C0345392 is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0008454 name: Lumbar kyphosis alt_id: HP:0008487 def: "Over curvature of the lumbar region." [https://orcid.org/0000-0002-0736-9199] synonym: "Lumbar gibbus deformity" EXACT [] synonym: "Rounded lower back" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1844818 is_a: HP:0100712 ! Abnormal lumbar spine morphology [Term] id: HP:0008455 name: Dysplastic sacrum def: "A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally." [] synonym: "Absence of some of the sacral and coccygeal bones" EXACT layperson [] synonym: "Partial sacral agenesis" EXACT [] synonym: "Sacral dysgenesis" EXACT [] xref: UMLS:C1851305 is_a: HP:0005107 ! Abnormal sacrum morphology [Term] id: HP:0008456 name: C2-C3 subluxation def: "A partial dislocation of the intervertebral joint between the second and third cervical vertebrae." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2678323 is_a: HP:0003308 ! Cervical subluxation [Term] id: HP:0008457 name: Caudal interpedicular narrowing def: "Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine." [https://orcid.org/0000-0002-0736-9199] synonym: "Caudal narrowing of interpedicular distances" EXACT [] xref: UMLS:C1863734 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008458 name: Progressive congenital scoliosis def: "A progressive form of scoliosis with congenital onset." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1857025 is_a: HP:0002650 ! Scoliosis [Term] id: HP:0008459 name: Cervical vertebral agenesis def: "Agenesis of one or more vertebrae of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199] synonym: "Cervical vertebrae agenesis" EXACT [] synonym: "Missing cervical vertebrae" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:91880006 xref: UMLS:C0432160 is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008460 name: Hypoplastic spinal processes synonym: "Underdeveloped spinal processes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024674 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008461 name: Cervical vertebral facet hypoplasia xref: UMLS:C4024673 is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008462 name: Cervical instability xref: UMLS:C1863314 is_a: HP:0005881 ! Spinal instability [Term] id: HP:0008463 name: Central vertebral hypoplasia xref: UMLS:C4024672 is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008464 name: Absent spinous processes of lower thoracic and lumbar vertebrae xref: UMLS:C4024671 is_a: HP:0008516 ! Abnormality of the vertebral spinous processes [Term] id: HP:0008465 name: Absent vertebra def: "A developmental defect characterized by agenesis of one or more vertebral bodies." [PMID:26167231] synonym: "Absent vertebrae" EXACT layperson [] xref: SNOMEDCT_US:15843004 xref: UMLS:C0158776 is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008467 name: Thoracic hemivertebrae alt_id: HP:0004604 def: "Absence of one half of the vertebral body in the thoracic spine." [https://orcid.org/0000-0002-0736-9199] synonym: "Midthoracic hemivertebrae" NARROW [] xref: SNOMEDCT_US:95304000 xref: UMLS:C0432152 xref: UMLS:C4020799 is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008468 name: Abnormal sacral segmentation def: "An abnormality related to a defect of vertebral separation of sacral vertebrae during development." [] xref: UMLS:C1968942 is_a: HP:0008490 ! Sacral segmentation defect [Term] id: HP:0008469 name: Cervical vertebral dysplasia def: "Dysplasia of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1861693 is_a: HP:0046508 ! Abnormal cervical spine morphology [Term] id: HP:0008470 name: Lower thoracic interpediculate narrowness def: "A reduction of the distance between the lower thoracic vertebral pedicles." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowness of interpediculate distances in lower thoracic regions" EXACT [] xref: UMLS:C1854940 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008472 name: Prominent protruding coccyx synonym: "Large tailbone" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Prominent protruding tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1850044 xref: UMLS:C4280412 is_a: HP:0040016 ! Prominent coccyx is_a: HP:0040017 ! Protruding coccyx [Term] id: HP:0008473 name: Narrow anterio-posterior vertebral body diameter alt_id: HP:0005732 def: "An abnormal reduction of the anterioposterior diameter of the vertebral body." [https://orcid.org/0000-0002-0736-9199] synonym: "Reduced anterior-posterior diameter of vertebral bodies" EXACT [] synonym: "Reduced sagittal diameter of vertebrae" EXACT [] xref: UMLS:C4021540 is_a: HP:0008479 ! Hypoplastic vertebral bodies [Term] id: HP:0008475 name: Hypoplastic sacral vertebrae xref: UMLS:C2751479 is_a: HP:0004590 ! Hypoplastic sacrum is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008476 name: Irregular sclerotic endplates alt_id: HP:0004624 synonym: "irregular, dense end plate" EXACT [] xref: UMLS:C1868554 is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0008477 name: Poorly ossified cervical vertebrae def: "Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024670 is_a: HP:0100856 ! Poorly ossified vertebrae [Term] id: HP:0008478 name: Scheuermann-like vertebral changes xref: UMLS:C1844926 is_a: HP:0010891 ! Morbus Scheuermann [Term] id: HP:0008479 name: Hypoplastic vertebral bodies alt_id: HP:0002773 synonym: "Small vertebrae" EXACT [] synonym: "Small vertebral bodies" EXACT [] synonym: "Underdeveloped back bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1863353 is_a: HP:0003312 ! Abnormal form of the vertebral bodies is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008480 name: Cervical spondylosis alt_id: HP:0025266 def: "Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199] comment: When osteoarthritis affects the spine, it is known as spondylosis. synonym: "Cervical osteoarthritis" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Cervical spine degeneration" EXACT layperson [] synonym: "Neck arthritis" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:387800004 xref: SNOMEDCT_US:387801000 xref: UMLS:C0263854 xref: UMLS:C1384641 is_a: HP:0046508 ! Abnormal cervical spine morphology [Term] id: HP:0008482 name: Asymmetry of spinal facet joints xref: UMLS:C4024669 is_a: HP:0030870 ! Abnormality of spinal facet joint [Term] id: HP:0008483 name: Cervical vertebral bodies with decreased anteroposterior diameter xref: UMLS:C1847393 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008484 name: Thoracolumbar interpediculate narrowness def: "A reduction of the distance between thoracolumbar vertebral pedicles." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrow thoracolumbar interpediculate distance" EXACT [] xref: UMLS:C1864364 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008486 name: Lumbar interpedicular narrowing def: "Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreasing lumbar vertebrae interpediculate distance" EXACT [] xref: UMLS:C1849079 is_a: HP:0008457 ! Caudal interpedicular narrowing [Term] id: HP:0008488 name: Anterior rounding of vertebral bodies xref: UMLS:C1850043 is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0008489 name: Spondylolisthesis at L5-S1 alt_id: HP:0005779 def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1)." [https://orcid.org/0000-0002-0736-9199] synonym: "Spondylolysis and spondylolisthesis of l5" EXACT [] xref: UMLS:C3275799 is_a: HP:0003302 ! Spondylolisthesis [Term] id: HP:0008490 name: Sacral segmentation defect xref: UMLS:C1850329 is_a: HP:0003422 ! Vertebral segmentation defect is_a: HP:0005107 ! Abnormal sacrum morphology [Term] id: HP:0008491 name: Premature anterior fontanel closure def: "Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024668 is_a: HP:0000236 ! Abnormal anterior fontanelle morphology [Term] id: HP:0008494 name: Inferior lens subluxation def: "Partial displacement of the lens in the inferior direction." [https://orcid.org/0000-0002-0736-9199] synonym: "Inferior subluxated lens" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C2036842 is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008496 name: Multiple rows of eyelashes synonym: "Double row of eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Extra rows of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple rows of eyelashes" EXACT layperson [] synonym: "Two rows of eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:95339000 xref: UMLS:C0423848 xref: UMLS:C3550336 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0008497 name: Congenital craniofacial dysostosis xref: UMLS:C4024667 is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0008498 name: obsolete No permanent dentition is_obsolete: true replaced_by: HP:0006349 [Term] id: HP:0008499 name: High hypermetropia def: "A severe form of hypermetropia with over +5.00 diopters." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0003-0986-4123] synonym: "High hyperopia" EXACT [] synonym: "High-grade hypermetropia" EXACT [] synonym: "Severe farsightedness" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Severe long-sightedness" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024665 is_a: HP:0000540 ! Hypermetropia [Term] id: HP:0008501 name: obsolete Median cleft lip and palate is_obsolete: true replaced_by: HP:0009099 [Term] id: HP:0008504 name: Moderate sensorineural hearing impairment def: "The presence of a moderate form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Moderate neural deafness" RELATED [] xref: UMLS:C4020798 xref: UMLS:C4024664 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012713 ! Moderate hearing impairment [Term] id: HP:0008507 name: Static ophthalmoparesis xref: UMLS:C4024663 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0008509 name: Aged leonine appearance xref: UMLS:C3550331 is_a: HP:0007495 ! Prematurely aged appearance [Term] id: HP:0008511 name: Central posterior corneal opacity def: "Reduced transparency of the central posterior portion of the corneal stroma." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:246967007 xref: UMLS:C0423260 is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0008513 name: Bilateral conductive hearing impairment alt_id: HP:0008536 def: "A bilateral type of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral conductive deafness" EXACT [] synonym: "Bilateral conductive hearing loss" EXACT [] xref: SNOMEDCT_US:194417009 xref: UMLS:C0452136 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008515 name: Aplasia/Hypoplasia of the vertebrae synonym: "Absent/small vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024662 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T02:30:00Z [Term] id: HP:0008516 name: Abnormality of the vertebral spinous processes xref: UMLS:C4024661 is_a: HP:0003312 ! Abnormal form of the vertebral bodies property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T02:31:00Z [Term] id: HP:0008517 name: Aplasia/Hypoplasia of the sacrum def: "Aplasia or developmental hypoplasia of the sacral bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small sacrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped sacrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024660 is_a: HP:0005107 ! Abnormal sacrum morphology is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T02:32:00Z [Term] id: HP:0008518 name: Aplasia/Hypoplasia involving the vertebral column synonym: "Absent/small backbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/small spine" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/small vertebral column" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped backbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped spine" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped vertebral column" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024659 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T02:33:00Z [Term] id: HP:0008519 name: Abnormal coccyx morphology alt_id: HP:0002830 def: "Any structural abnormality of the coccyx." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal tailbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of the coccyx" EXACT [] xref: UMLS:C4024658 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T02:41:00Z [Term] id: HP:0008523 name: Posterior helix pit def: "Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated." [PMID:19152421] comment: They are usually linear to a narrow oval in shape and may be single or multiple. subset: hposlim_core synonym: "Ear, posterior helical groove" EXACT [] synonym: "Ear, posterior helical notch" EXACT [] synonym: "Helix, posterior pit" EXACT [] synonym: "Indentation in back of outer ear" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Pits in posterior aspect of ear helices" EXACT [] xref: UMLS:C4021539 is_a: HP:0011039 ! Abnormal helix morphology [Term] id: HP:0008527 name: Congenital sensorineural hearing impairment alt_id: HP:0004455 alt_id: HP:0004457 alt_id: HP:0008520 alt_id: HP:0008521 alt_id: HP:0008540 alt_id: HP:0008543 alt_id: HP:0008545 alt_id: HP:0008546 alt_id: HP:0008556 alt_id: HP:0008558 alt_id: HP:0008561 alt_id: HP:0008571 alt_id: HP:0008603 alt_id: HP:0008612 alt_id: HP:0008620 def: "A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral congenital sensorineural deafness" EXACT [] synonym: "Congenital neurosensory deafness" EXACT [] synonym: "Congenital perceptive deafness" EXACT [] synonym: "Congenital sensorineural deafness" EXACT [] synonym: "Congenital sensorineural hearing loss" EXACT [] synonym: "Hearing loss, congenital sensorineural" EXACT [] xref: SNOMEDCT_US:700453005 xref: UMLS:C1865866 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008528 name: Long hairs growing from helix of pinna synonym: "Ear hair" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Long hairs growing from helix of ear" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:27394002 xref: UMLS:C0222050 xref: UMLS:C4024657 is_a: HP:0011039 ! Abnormal helix morphology [Term] id: HP:0008529 name: Absence of acoustic reflex alt_id: HP:0008595 def: "Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli." [https://orcid.org/0000-0002-0736-9199] comment: Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex. synonym: "Absence of acoustic middle ear muscle reflexes" EXACT [] synonym: "Absent middle ear reflexes" EXACT [] synonym: "Absent stapedius reflexes" EXACT [] xref: UMLS:C1832834 is_a: HP:0040121 ! Abnormality of the acoustic reflex [Term] id: HP:0008537 name: Cleft at the superior portion of the pinna comment: This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. synonym: "Cleft at the superior portion of the ear" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1865302 is_a: HP:0009902 ! Cleft helix [Term] id: HP:0008541 name: Superiorly displaced ears synonym: "High set ears" RELATED layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1850190 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0008542 name: Low-frequency hearing loss def: "A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)." [https://orcid.org/0000-0002-0736-9199] synonym: "Low-frequency hearing loss" EXACT layperson [] xref: SNOMEDCT_US:42538001 xref: UMLS:C0271514 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0008544 name: Abnormally folded helix def: "Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape." [PMID:19152421] xref: UMLS:C1970777 is_a: HP:0011039 ! Abnormal helix morphology [Term] id: HP:0008551 name: Microtia alt_id: HP:0000393 alt_id: HP:0000409 alt_id: HP:0008550 alt_id: HP:0008618 alt_id: HP:0008621 def: "Underdevelopment of the external ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421, PMID:3270622] comment: The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. subset: hposlim_core synonym: "Bilateral microtia" EXACT [] synonym: "Hypoplasia of the external ear" EXACT [] synonym: "Hypoplastic ears" EXACT [] synonym: "Hypoplastic pinna" EXACT [] synonym: "Small ears" EXACT layperson [] synonym: "Small pinnae" EXACT [] synonym: "Underdeveloped ears" EXACT layperson [] xref: SNOMEDCT_US:35045004 xref: UMLS:C0152423 is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear [Term] id: HP:0008554 name: Cochlear malformation def: "The presence of a malformed cochlea." [https://orcid.org/0000-0002-0736-9199] comment: A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two. xref: UMLS:C1862050 is_a: HP:0000375 ! Abnormal cochlea morphology [Term] id: HP:0008555 name: Absent vestibular function def: "Complete lack of functioning of the vestibular apparatus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024656 is_a: HP:0001756 ! Vestibular hyporeflexia [Term] id: HP:0008559 name: Hypoplastic superior helix alt_id: HP:0008627 synonym: "Underdeveloped superior helices" EXACT [] xref: UMLS:C1865305 is_a: HP:0008589 ! Hypoplastic helices [Term] id: HP:0008568 name: Vestibular areflexia alt_id: HP:0008526 def: "Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography." [https://orcid.org/0000-0002-0736-9199, PMID:26918204] synonym: "Vestibular ataxia" RELATED [] xref: SNOMEDCT_US:22443004 xref: UMLS:C0235927 xref: UMLS:C4015052 is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex [Term] id: HP:0008569 name: Microtia, second degree def: "Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear." [eom:ae27d9699faef13a, PMID:19152421] synonym: "Cockleshell ear" RELATED layperson [] synonym: "Constricted helix type IV" RELATED [] synonym: "Ear, grade II dysplasia" RELATED [] synonym: "Mini ear" RELATED layperson [] synonym: "Severe cupped ear, type III" RELATED [] synonym: "Shell ear" RELATED layperson [] synonym: "Snail ear" RELATED layperson [] xref: UMLS:C4020694 xref: UMLS:C4020792 xref: UMLS:C4020793 xref: UMLS:C4020794 xref: UMLS:C4020795 xref: UMLS:C4020796 xref: UMLS:C4020797 is_a: HP:0008551 ! Microtia [Term] id: HP:0008572 name: obsolete External ear malformation is_obsolete: true replaced_by: HP:0000377 [Term] id: HP:0008573 name: Low-frequency sensorineural hearing impairment def: "A form of sensorineural hearing impairment that affects primarily the lower frequencies." [https://orcid.org/0000-0002-0736-9199] synonym: "Low-frequency sensorineural hearing loss" EXACT [] xref: UMLS:C3810445 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008577 name: Underfolded helix def: "Underdevelopment of the helix that either affects the entire helix, or is localized." [PMID:19152421] comment: Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged. synonym: "Poorly folded helices" EXACT [] xref: UMLS:C1849735 is_a: HP:0008544 ! Abnormally folded helix [Term] id: HP:0008583 name: Underfolded superior helices def: "A condition in which the superior portion of the helix is folded over to a lesser degree than normal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024655 is_a: HP:0008577 ! Underfolded helix [Term] id: HP:0008586 name: Hypoplasia of the cochlea def: "Developmental hypoplasia of the cochlea." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic cochlea" EXACT [] synonym: "Underdeveloped cochlea" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C2676974 is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea [Term] id: HP:0008587 name: Mild neurosensory hearing impairment def: "The presence of a mild form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] comment: A neurosensory hearing loss with a deficit of 21-40 dB. synonym: "Mild neurosensory hearing loss" EXACT [] xref: UMLS:C4021538 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012712 ! Mild hearing impairment [Term] id: HP:0008588 name: Slit-like opening of the exterior auditory meatus def: "A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit." [PMID:12843316] xref: UMLS:C1846459 is_a: HP:0000402 ! Stenosis of the external auditory canal [Term] id: HP:0008589 name: Hypoplastic helices def: "Underdevelopment of the helix, i.e., of the outer rim of the pinna." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped helices" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1842681 is_a: HP:0011039 ! Abnormal helix morphology [Term] id: HP:0008591 name: Congenital conductive hearing impairment alt_id: HP:0008525 def: "A type of conductive deafness with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital conductive deafness" EXACT [] synonym: "Congenital conductive hearing loss" EXACT [] xref: UMLS:C4021537 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008593 name: Prominent antitragus def: "Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] synonym: "Enlarged antitragus" EXACT [] synonym: "Hyperplastic antitragus" EXACT [] synonym: "Hypertrophic antitragus" EXACT [] xref: UMLS:C1968811 is_a: HP:0009896 ! Abnormal antitragus morphology [Term] id: HP:0008596 name: Postlingual sensorineural hearing impairment def: "A form of sensorineural hearing impairment with onset after the acquisition of speech." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024654 is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0008598 name: Mild conductive hearing impairment def: "A mild form of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, mild" EXACT [] xref: UMLS:C4021536 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment [Term] id: HP:0008605 name: Unilateral external ear deformity synonym: "Deformed external ear on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834043 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0008606 name: Supraauricular pit def: "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit." [https://orcid.org/0009-0006-4530-3154] synonym: "Pit above the ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Supraauricular fistula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Supraauricular sinus" EXACT [] synonym: "Supraauricular sinuses" EXACT [] xref: UMLS:C1862059 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0008607 name: Progressive conductive hearing impairment def: "A progressive type of conductive deafness." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive conductive deafness" EXACT [] xref: UMLS:C1861325 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008608 name: Hypertrophic auricular cartilage xref: UMLS:C1857263 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0008609 name: Abnormal middle ear morphology def: "An abnormality of the morphology or structure of the middle ear." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] synonym: "Middle ear malformation" EXACT layperson [] synonym: "Morphological abnormality of the middle ear" EXACT layperson [] xref: UMLS:C1857456 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0008610 name: Infantile sensorineural hearing impairment def: "A form of sensorineural hearing impairment with infantile onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Infantile sensorineural hearing loss" EXACT [] xref: UMLS:C4021535 is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0008615 name: Adult onset sensorineural hearing impairment alt_id: HP:0008532 alt_id: HP:0008599 def: "The presence of sensorineural deafness with late onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Late sensorineural hearing loss" EXACT [] synonym: "Sensorineural deafness, late-onset" EXACT [] xref: UMLS:C4021534 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008619 name: Bilateral sensorineural hearing impairment alt_id: HP:0008530 alt_id: HP:0008539 alt_id: HP:0008579 alt_id: HP:0008585 def: "A form of sensorineural hearing impairment that affects both ears." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral nerve deafness" EXACT [] synonym: "Bilateral sensorineural deafness" EXACT [] synonym: "Bilateral sensorineural hearing loss" EXACT [] synonym: "Hearing loss, sensorineural, bilateral" EXACT [] xref: SNOMEDCT_US:194424005 xref: UMLS:C0452138 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008625 name: Severe sensorineural hearing impairment alt_id: HP:0008534 alt_id: HP:0008574 def: "A severe form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Severe sensorineural deafness" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Severe sensorineural hearing loss" EXACT [] xref: UMLS:C4021533 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012714 ! Severe hearing impairment [Term] id: HP:0008628 name: Abnormal stapes morphology def: "An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Stapedial abnormalities" EXACT [] xref: UMLS:C4021532 is_a: HP:0004452 ! Abnormality of the middle ear ossicles [Term] id: HP:0008629 name: Pulsatile tinnitus alt_id: HP:0000361 def: "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation." [PMID:23885280] comment: Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such patulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus. xref: SNOMEDCT_US:232322006 xref: UMLS:C0751559 is_a: HP:0000360 ! Tinnitus [Term] id: HP:0008631 name: Ureteral dysgenesis def: "A developmental anomaly of the ureter." [https://orcid.org/0000-0002-0736-9199] comment: If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen. xref: UMLS:C4024653 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0008633 name: Agonadism def: "Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females)." [] comment: Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous. synonym: "Absent gonadal tissue" EXACT [] synonym: "Gonadal agenesis" EXACT [] xref: UMLS:C4024652 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008635 name: Urinary bladder wall hypertrophy def: "Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature." [https://orcid.org/0000-0002-0736-9199, PMID:11002301] synonym: "Hypertrophic urinary bladder" EXACT [] synonym: "Hypertrophy of the urinary bladder wall" EXACT [] synonym: "Urinary bladder wall thickening" EXACT [] xref: UMLS:C4021531 is_a: HP:0025487 ! Abnormal bladder morphology [Term] id: HP:0008636 name: obsolete Lobular glomerulopathy is_obsolete: true replaced_by: HP:0100820 [Term] id: HP:0008639 name: Gonadal hypoplasia synonym: "Underdeveloped gonad" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0239761 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008640 name: Congenital macroorchidism xref: UMLS:C4024650 is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0008643 name: Nephroblastomatosis def: "Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood." [https://orcid.org/0000-0002-0736-9199, PMID:10707720] xref: UMLS:C2675558 is_a: HP:0011794 ! Embryonal renal neoplasm [Term] id: HP:0008647 name: Pubertal developmental failure in females xref: UMLS:C4024649 is_a: HP:0008197 ! Absence of pubertal development [Term] id: HP:0008648 name: obsolete Anteriorly displaced urethral meatus is_obsolete: true replaced_by: HP:0100627 [Term] id: HP:0008651 name: Uric acid urolithiasis independent of gout xref: UMLS:C4024647 is_a: HP:0000791 ! Uric acid nephrolithiasis [Term] id: HP:0008652 name: Autonomic erectile dysfunction def: "Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Impotence due to autonomic dysfunction" EXACT [] xref: UMLS:C1868524 is_a: HP:0012332 ! Abnormal autonomic nervous system physiology is_a: HP:0100639 ! Erectile dysfunction [Term] id: HP:0008653 name: Crescentic glomerulonephritis def: "A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: SNOMEDCT_US:236398000 xref: UMLS:C0403416 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0008655 name: Aplasia/Hypoplasia of the fallopian tube def: "Aplasia or developmental hypoplasia of the fallopian tube." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent or rudimentary fallopian tubes" RELATED [] synonym: "Absent/small fallopian tube" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped fallopian tube" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4020791 xref: UMLS:C4024646 is_a: HP:0011027 ! Abnormal fallopian tube morphology [Term] id: HP:0008656 name: Incomplete male pseudohermaphroditism xref: UMLS:C4024645 is_a: HP:0000037 ! Male pseudohermaphroditism [Term] id: HP:0008659 name: Multiple small medullary renal cysts alt_id: HP:0005569 alt_id: HP:0100956 def: "The presence of many cysts in the medulla of the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] comment: This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease. synonym: "Medullary cystic disease" RELATED [] synonym: "Medullary sponge kidney disease" RELATED [] xref: SNOMEDCT_US:204958008 xref: UMLS:C0687120 xref: UMLS:C4020790 xref: UMLS:C4024644 is_a: HP:0000107 ! Renal cyst is_a: HP:0100957 ! Abnormal renal medulla morphology [Term] id: HP:0008660 name: Renotubular dysgenesis def: "A developmental defect characterized by absence or poor development of proximal renal tubules." [https://orcid.org/0000-0002-0736-9199] comment: Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence. synonym: "Renal tubular dysgenesis" EXACT [] xref: SNOMEDCT_US:702397002 xref: UMLS:C0266313 is_a: HP:0000091 ! Abnormal renal tubule morphology [Term] id: HP:0008661 name: Urethral stenosis def: "Abnormal narrowing of the urethra." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of the urethra" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:236647003 xref: SNOMEDCT_US:76618002 xref: UMLS:C0041974 is_a: HP:0000796 ! Urethral obstruction [Term] id: HP:0008663 name: Renal sarcoma def: "A sarcoma of the kidney." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3158 xref: SNOMEDCT_US:254918001 xref: UMLS:C0346251 is_a: HP:0009726 ! Renal neoplasm is_a: HP:0100242 ! Sarcoma [Term] id: HP:0008664 name: Urethral sphincter sclerosis xref: UMLS:C4024643 is_a: HP:0008661 ! Urethral stenosis [Term] id: HP:0008665 name: Clitoral hypertrophy alt_id: HP:0000057 alt_id: HP:0008728 def: "Hypertrophy of the clitoris." [https://orcid.org/0000-0002-0736-9199] comment: Increased size of the clitoris. synonym: "Clitoral enlargement" EXACT [] synonym: "Clitoromegaly" EXACT [] synonym: "Enlarged clitoris" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hypertrophic clitoris" EXACT [] synonym: "Prominent clitoris" EXACT [] xref: SNOMEDCT_US:80212005 xref: UMLS:C0156394 is_a: HP:0040253 ! Increased size of the clitoris [Term] id: HP:0008666 name: Impaired histidine renal tubular absorption xref: UMLS:C4024642 is_a: HP:0011038 ! Abnormal renal tubular resorption [Term] id: HP:0008668 name: Gonadal dysgenesis, male def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation." [https://orcid.org/0009-0006-4530-3154] synonym: "46,xy gonadal dysgenesis" EXACT [] xref: UMLS:C0018054 is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008669 name: Abnormal spermatogenesis def: "Incomplete maturation or aberrant formation of the male gametes." [https://orcid.org/0000-0002-0736-9199, MP:0001156] synonym: "Abnormal sperm development" RELATED layperson [] synonym: "Impaired spermatogenesis" EXACT [] xref: SNOMEDCT_US:4529005 xref: UMLS:C0520933 xref: UMLS:C4020789 is_a: HP:0000025 ! Functional abnormality of male internal genitalia [Term] id: HP:0008670 name: Partial vaginal septum xref: UMLS:C0750088 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008672 name: Calcium oxalate nephrolithiasis alt_id: HP:0008700 alt_id: HP:0008725 def: "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Ca oxalate kidney stone" EXACT abbreviation [] synonym: "Ca oxalate nephrolithiasis" EXACT abbreviation [] synonym: "Ca oxalate urolithiasis" EXACT abbreviation [] synonym: "Ca2+ oxalate kidney stone" EXACT abbreviation [] synonym: "Ca2+ oxalate nephrolithiasis" EXACT abbreviation [] synonym: "Ca2+ oxalate urolithiasis" EXACT abbreviation [] synonym: "Calcium oxalate kidney stones" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Calcium oxalate urolithiasis" RELATED [] synonym: "Oxalate nephrolithiasis" EXACT [] xref: SNOMEDCT_US:444717006 xref: UMLS:C1833683 xref: UMLS:C4280806 is_a: HP:0004724 ! Calcium nephrolithiasis [Term] id: HP:0008675 name: Enlarged polycystic ovaries synonym: "Enlarged ovaries with cysts" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C4024641 is_a: HP:0000147 ! Polycystic ovaries is_a: HP:0100879 ! Enlarged ovaries [Term] id: HP:0008676 name: Congenital megaureter def: "A developmental disturbance with extreme ureteral dilatation." [https://orcid.org/0000-0002-0736-9199] comment: The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction. synonym: "Congenital megaloureter" EXACT [] synonym: "Primary megaloureter" EXACT [] synonym: "Primary megaureter" EXACT [] xref: SNOMEDCT_US:718485003 xref: SNOMEDCT_US:95576001 xref: UMLS:C0266324 is_a: HP:0000072 ! Hydroureter [Term] id: HP:0008677 name: Congenital nephrotic syndrome def: "Nephrotic syndrome with onset within the first three months of life." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Congenital nephrosis" EXACT [] xref: SNOMEDCT_US:48796009 xref: UMLS:C3501848 is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008678 name: Renal hypoplasia/aplasia alt_id: HP:0004744 alt_id: HP:0008701 def: "Absence or underdevelopment of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Renal agenesis/hypoplasia" EXACT [] synonym: "Renal aplasia/hypoplasia" EXACT [] xref: UMLS:C1857453 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0008682 name: Renal tubular epithelial necrosis def: "Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%)." [https://orcid.org/0000-0002-0736-9199] comment: Renal tubular epithelial necrosis is a histomorphological definition that corresponds to the clinical term of acture tubular necrosis. Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases. synonym: "Acute tubular necrosis" EXACT [] synonym: "Renal tubular necrosis" EXACT [] xref: SNOMEDCT_US:35455006 xref: UMLS:C0022672 is_a: HP:0000091 ! Abnormal renal tubule morphology is_a: HP:0032618 ! Renal necrosis [Term] id: HP:0008683 name: Enlarged labia minora alt_id: HP:0008662 alt_id: HP:0008694 def: "Increase in size of the folds of skin between the outer labia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypertrophic labia minora" EXACT [] synonym: "Labia minora hypertrophy" EXACT [] xref: UMLS:C1849358 is_a: HP:0000065 ! Labial hypertrophy is_a: HP:0012880 ! Abnormal labia minora morphology [Term] id: HP:0008684 name: Aplasia/hypoplasia of the uterus def: "Absence or developmental hypoplasia of the uterus." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024640 is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0008687 name: Hypoplasia of the prostate synonym: "Hypoplastic prostate" EXACT [] synonym: "Underdeveloped prostate" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1844923 is_a: HP:0008775 ! Abnormal prostate morphology [Term] id: HP:0008689 name: Bilateral cryptorchidism alt_id: HP:0008686 def: "Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cryptorchidism, bilateral" EXACT [] xref: SNOMEDCT_US:268228006 xref: UMLS:C0431663 is_a: HP:0000028 ! Cryptorchidism [Term] id: HP:0008691 name: Solitary bladder diverticulum def: "Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: UMLS:C4024639 is_a: HP:0000015 ! Bladder diverticulum [Term] id: HP:0008694 name: obsolete Hypertrophic labia minora is_obsolete: true replaced_by: HP:0008683 [Term] id: HP:0008695 name: Transient nephrotic syndrome synonym: "Transient nephrosis" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024638 is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008696 name: Renal hamartoma def: "A disordered proliferation of mature tissues that are native to the kidneys." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-9113-2978] xref: UMLS:C1840396 is_a: HP:0009726 ! Renal neoplasm is_a: HP:0010566 ! Hamartoma [Term] id: HP:0008697 name: Hypoplasia of the fallopian tube def: "Developmental hypoplasia of the fallopian tube." [https://orcid.org/0000-0002-0736-9199] synonym: "Rudimentary fallopian tubes" EXACT [] synonym: "Underdeveloped fallopian tube" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1968706 is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube [Term] id: HP:0008702 name: Absent internal genitalia xref: UMLS:C4024637 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008703 name: Gonadal calcification def: "Deposition of calcium salts in gonadal tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024636 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0008705 name: Ureteral triplication xref: UMLS:C4024635 is_a: HP:0000073 ! Ureteral duplication [Term] id: HP:0008706 name: Distal urethral duplication xref: UMLS:C4024634 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008707 name: Absent scrotum def: "Congenital absence of the scrotum." [https://orcid.org/0000-0002-0736-9199] comment: Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately. synonym: "Absent scrotum" EXACT layperson [] xref: SNOMEDCT_US:249233008 xref: UMLS:C0426320 is_a: HP:0000045 ! Abnormal scrotum morphology [Term] id: HP:0008708 name: Partial development of the penile shaft def: "A congenital condition of the external male genitalia in which the shaft of the penis fails to fully develop." [] comment: This feature is based on a description in PMID:15273283 for Sudden infant death with dysgenesis of the testes syndrome (OMIM:608800). xref: UMLS:C1837379 is_a: HP:0000036 ! Abnormal penis morphology [Term] id: HP:0008711 name: Benign prostatic hyperplasia def: "The presence of non-malignant hyperplasia of the prostate." [https://orcid.org/0000-0002-0736-9199] synonym: "Benign prostatic hypertrophy" EXACT [] xref: SNOMEDCT_US:266569009 xref: UMLS:C0005001 xref: UMLS:C1704272 is_a: HP:0008775 ! Abnormal prostate morphology [Term] id: HP:0008714 name: Ureterovesical stenosis xref: UMLS:C4024633 is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0008715 name: Testicular dysgenesis xref: SNOMEDCT_US:253847002 xref: UMLS:C0302885 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0008716 name: Urethrovaginal fistula def: "The presence of a fistula between the vagina and the urethra." [https://orcid.org/0000-0002-0736-9199] synonym: "Urethrovaginal fistulae" EXACT [] xref: SNOMEDCT_US:50477003 xref: UMLS:C0269133 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0010480 ! Urethral fistula [Term] id: HP:0008717 name: Unilateral renal atrophy def: "A unilateral form of atrophy of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney degeneration on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Unilateral kidney wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:424998002 xref: UMLS:C1827184 is_a: HP:0012585 ! Renal atrophy [Term] id: HP:0008718 name: Unilateral renal dysplasia def: "A unilateral form of developmental dysplasia of the kidney." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204951002 xref: UMLS:C0431697 is_a: HP:0000110 ! Renal dysplasia [Term] id: HP:0008720 name: Primary testicular failure xref: SNOMEDCT_US:370997001 xref: SNOMEDCT_US:48723006 xref: UMLS:C1384582 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0008722 name: Urethral diverticulum def: "The presence of a diverticulum (sac or pouch) in the wall of the urethra." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:90531003 xref: UMLS:C0152443 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008723 name: Gonadal dysgenesis with female appearance, male def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation." [https://orcid.org/0009-0006-4530-3154] comment: Very bad term - try to get rid of it later. synonym: "Xy female gonadal dysgenesis" RELATED [] xref: UMLS:C4020788 xref: UMLS:C4024632 is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008724 name: Hypoplasia of the ovary def: "Developmental hypoplasia of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic ovary" EXACT [] synonym: "Underdeveloped ovary" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:93279005 xref: UMLS:C0685840 xref: UMLS:C1835452 is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary [Term] id: HP:0008726 name: Hypoplasia of the vagina alt_id: HP:0011938 def: "Developmental hypoplasia of the vagina." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic vagina" EXACT [] synonym: "Rudimentary vagina" EXACT [] synonym: "Underdeveloped vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:253836009 xref: UMLS:C0345309 xref: UMLS:C1442988 is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0008729 name: Absence of labia majora synonym: "Absent vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849575 is_a: HP:0012881 ! Abnormal labia majora morphology [Term] id: HP:0008730 name: Female external genitalia in individual with 46,XY karyotype alt_id: HP:0008719 def: "The presence of female external genitalia in a person with a male karyotype." [https://orcid.org/0000-0002-0736-9199] synonym: "Males with female external genitalia" EXACT [] xref: UMLS:C1848178 is_a: HP:0000032 ! Abnormal male external genitalia morphology [Term] id: HP:0008732 name: Renal hypophosphatemia def: "Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion." [PMID:22392950, PMID:30180816] comment: Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and movement of phosphate from the extracellular to intracellular compartments. The initial step in diagnosis involves determining whether hypophosphatemia is renal or nonrenal. xref: UMLS:C4024631 is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008733 name: Dysplastic testes xref: UMLS:C1837380 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0008734 name: Decreased testicular size alt_id: HP:0000043 def: "Reduced volume of the testicle (the male gonad)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased testicular size" EXACT layperson [] synonym: "Hypoplastic testes" EXACT [] synonym: "Small testes" EXACT layperson [] synonym: "Small testis" EXACT layperson [] synonym: "Testicular hypoplasia" EXACT [] xref: SNOMEDCT_US:276411001 xref: UMLS:C0241355 is_a: HP:0000050 ! Hypoplastic male external genitalia is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes [Term] id: HP:0008736 name: Hypoplasia of penis alt_id: HP:0008632 synonym: "Underdeveloped penis" EXACT layperson [] xref: SNOMEDCT_US:34911001 xref: UMLS:C0266435 is_a: HP:0000036 ! Abnormal penis morphology is_a: HP:0000050 ! Hypoplastic male external genitalia [Term] id: HP:0008738 name: Partially duplicated kidney def: "The presence of a partially duplicated kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Partially duplicated kidney" EXACT layperson [] xref: UMLS:C4024630 is_a: HP:0000075 ! Renal duplication [Term] id: HP:0008739 name: Labial pseudohypertrophy xref: UMLS:C1835380 is_a: HP:0000065 ! Labial hypertrophy [Term] id: HP:0008740 name: Longitudinal vaginal septum alt_id: HP:0008698 def: "The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication." [https://orcid.org/0000-0002-0736-9199] synonym: "Vertical vaginal septum" EXACT [] xref: UMLS:C1841680 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008742 name: Prominent prostate median bar xref: UMLS:C4024629 is_a: HP:0008775 ! Abnormal prostate morphology [Term] id: HP:0008743 name: Coronal hypospadias def: "A mild form of hypospadias in which the urethra opens just under the corona glandis, that is, where the head of the penis meets the shaft." [https://orcid.org/0000-0002-0736-9199, PMID:28190103] synonym: "Subcoronal hypospadias" RELATED [] xref: SNOMEDCT_US:429641000124109 xref: UMLS:C1394030 xref: UMLS:C4020787 is_a: HP:0003244 ! Penile hypospadias [Term] id: HP:0008744 name: Abnormal aryepiglottic fold morphology def: "An abnormality of the aryepiglottic fold." [https://orcid.org/0000-0002-0736-9199] comment: The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage. synonym: "Abnormal aryepiglottic folds" EXACT [] synonym: "Abnormality of the aryepiglottic fold" EXACT [] xref: UMLS:C1849357 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008747 name: Cartilaginous ossification of larynx def: "Ossification affecting the set of cartilages of larynx." [https://orcid.org/0000-0002-0736-9199] comment: This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage). xref: UMLS:C1855622 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008749 name: Laryngeal hypoplasia alt_id: HP:0005935 def: "Underdevelopment of the larynx." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic larynx" EXACT [] xref: SNOMEDCT_US:253736003 xref: UMLS:C0431527 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008750 name: Laryngeal atresia def: "Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present." [https://orcid.org/0000-0002-0736-9199, PMID:10517457, PMID:17715321] comment: Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth. xref: SNOMEDCT_US:64981002 xref: UMLS:C0265756 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008751 name: Laryngeal cleft def: "Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus." [https://orcid.org/0000-0002-0736-9199, PMID:17178945] comment: Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft. synonym: "Laryngotracheal cleft" EXACT [] synonym: "Laryngotracheoesophageal cleft i" EXACT [] xref: SNOMEDCT_US:232461002 xref: UMLS:C1840311 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008752 name: Laryngeal cartilage malformation alt_id: HP:0008375 def: "A malformation of the laryngeal cartilage." [https://orcid.org/0000-0002-0736-9199] synonym: "Vocal impairment, severe, due to laryngeal cartilage abnormalities" EXACT [] xref: UMLS:C4021530 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008753 name: Aplasia of the epiglottis def: "Absence of the epiglottis." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent epiglottis" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024628 is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis [Term] id: HP:0008754 name: Laryngeal calcification alt_id: HP:0008748 def: "Calcification (abnormal deposits of calcium) in the laryngeal tissues." [https://orcid.org/0000-0002-0736-9199] synonym: "Laryngeal calcifications" EXACT plural_form [] xref: UMLS:C1859158 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008755 name: Laryngotracheomalacia xref: SNOMEDCT_US:308232009 xref: UMLS:C0585984 is_a: HP:0002779 ! Tracheomalacia [Term] id: HP:0008756 name: Bowing of the vocal cords def: "Bowing (abnormal curvature) of the vocal folds." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:232448002 xref: UMLS:C0396064 is_a: HP:0008777 ! Abnormal vocal cord morphology [Term] id: HP:0008757 name: Unilateral vocal cord paralysis def: "A loss of the ability to move the vocal fold on one side." [https://orcid.org/0000-0002-0736-9199] synonym: "Unilateral paralysis of the vocal cord" EXACT [] xref: UMLS:C0751575 is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0008760 name: Violent behavior def: "Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity." [] synonym: "Violent behavior" EXACT layperson [] synonym: "Violent behaviour" EXACT uk_spelling [] xref: SNOMEDCT_US:248004009 xref: UMLS:C0424323 is_a: HP:0000718 ! Aggressive behavior property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0008762 name: Repetitive compulsive behavior synonym: "Repetitive compulsive behavior" EXACT layperson [] synonym: "Repetitive compulsive behaviour" EXACT uk_spelling [] xref: UMLS:C1969697 is_a: HP:0031432 ! Restricted or repetitive behaviors or interests [Term] id: HP:0008763 name: No social interaction def: "Lack of intentional participation in interactions with another person." [] synonym: "No social interaction" EXACT layperson [] xref: UMLS:C1849683 is_a: HP:5200024 ! Abnormal relationship property_value: terms:contributor https://orcid.org/0000-0001-5395-5036 property_value: terms:contributor https://orcid.org/0000-0001-6886-767X property_value: terms:contributor https://orcid.org/0000-0001-8423-2623 property_value: terms:contributor https://orcid.org/0000-0001-9114-8737 property_value: terms:contributor https://orcid.org/0000-0002-0375-6247 property_value: terms:contributor https://orcid.org/0000-0002-2414-5605 property_value: terms:contributor https://orcid.org/0000-0002-4487-3589 [Term] id: HP:0008765 name: Auditory hallucination alt_id: HP:0000714 def: "Perception of sounds without auditory stimulus." [] synonym: "Hallucinations of sound" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hearing sounds" EXACT layperson [] xref: SNOMEDCT_US:45150006 xref: UMLS:C0233762 is_a: HP:0000738 ! Hallucinations property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 [Term] id: HP:0008767 name: Self-mutilation of tongue and lips due to involuntary movements def: "Uncontrolled movements result in tissue damage to the tongue and lips." [] synonym: "Self-mutilation of tongue and lips due to involuntary movements" EXACT layperson [] xref: UMLS:C1860219 is_a: HP:0000742 ! Self-mutilation is_a: HP:0004305 ! Involuntary movements property_value: terms:contributor https://orcid.org/0000-0001-6624-2975 property_value: terms:contributor https://orcid.org/0000-0002-2984-1124 property_value: terms:contributor https://orcid.org/0000-0002-4691-7362 property_value: terms:contributor https://orcid.org/0000-0002-6581-7754 property_value: terms:contributor https://orcid.org/0000-0002-7674-1767 property_value: terms:contributor https://orcid.org/0000-0003-2598-6622 property_value: terms:contributor https://orcid.org/0000-0003-4014-4490 [Term] id: HP:0008768 name: Abnormal sexual behavior def: "A deviation of sexual behaviors from the personal norms of the individual in the context of socially and culturally recognized patterns of human sexual behaviors." [] synonym: "Inappropriate sexual behavior" EXACT layperson [] synonym: "Inappropriate sexual behaviour" EXACT uk_spelling [] xref: SNOMEDCT_US:248099006 xref: UMLS:C0474420 is_a: HP:0000708 ! Atypical behavior property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0008770 name: Obsessive-compulsive trait alt_id: HP:0008761 def: "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant." [https://orcid.org/0000-0002-0736-9199, PMID:35230863] comment: Obsessions have been defined as intrusive and unwanted thoughts that are subjectively experienced as unacceptable. synonym: "Obsessive-compulsive trait" EXACT layperson [] synonym: "Obsessive-compulsive traits" EXACT layperson [] xref: UMLS:C1834433 is_a: HP:0000722 ! Compulsive behaviors [Term] id: HP:0008771 name: Aplasia/Hypoplasia of the ear def: "The presence of aplasia or developmental hypoplasia of the ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024627 is_a: HP:0031703 ! Abnormal ear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T05:44:00Z [Term] id: HP:0008772 name: Aplasia/Hypoplasia of the external ear def: "The presence of aplasia or developmental hypoplasia of all or part of the external ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small external ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped external ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024626 is_a: HP:0000377 ! Abnormal pinna morphology is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T05:45:00Z [Term] id: HP:0008773 name: Aplasia/Hypoplasia of the middle ear alt_id: HP:0008533 alt_id: HP:0008548 def: "Aplasia or developmental hypoplasia of all or part of the middle ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic/aplastic middle ear structures" EXACT [] synonym: "Middle ear hypoplasia/aplasia" EXACT [] xref: UMLS:C4021529 is_a: HP:0008609 ! Abnormal middle ear morphology is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T05:47:00Z [Term] id: HP:0008774 name: Aplasia/Hypoplasia of the inner ear def: "Aplasia or developmental hypoplasia of the inner ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small inner ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped inner ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024625 is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear is_a: HP:0011390 ! Abnormal inner ear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T05:48:00Z [Term] id: HP:0008775 name: Abnormal prostate morphology def: "An abnormality of the prostate." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the prostate" EXACT layperson [] xref: UMLS:C0747987 is_a: HP:0000022 ! Abnormal male internal genitalia morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T06:01:00Z [Term] id: HP:0008776 name: Abnormal renal artery morphology def: "Any structural abnormality of the renal artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal kidney artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the renal artery" EXACT [] xref: UMLS:C4024624 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0033836 ! Abnormal intrarenal artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T06:13:00Z [Term] id: HP:0008777 name: Abnormal vocal cord morphology def: "An abnormality of the vocal cord." [https://orcid.org/0000-0002-0736-9199] comment: The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx. synonym: "Abnormality of the vocal cords" EXACT layperson [] xref: UMLS:C0262665 is_a: HP:0025423 ! Abnormal larynx morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T06:18:00Z [Term] id: HP:0008780 name: Congenital bilateral hip dislocation xref: SNOMEDCT_US:10155006 xref: UMLS:C0158713 is_a: HP:0001374 ! Congenital hip dislocation [Term] id: HP:0008783 name: Wide proximal femoral metaphysis alt_id: HP:0008790 def: "Increased width of the proximal part of the shaft (metaphysis) of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide metaphysis of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024623 is_a: HP:0006417 ! Wide femoral metaphysis is_a: HP:0006431 ! Abnormal proximal femoral metaphysis morphology [Term] id: HP:0008784 name: Wide capital femoral epiphyses def: "Abnormally wide morphology of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024622 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0008785 name: Delayed ossification of pubic rami def: "Delayed maturation and calcification of the rami (branches) of the pubic bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1865363 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008786 name: Iliac crest serration alt_id: HP:0008825 def: "Irregularities of the iliac crest that produce the appearance of a lace border around it." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular lacy iliac crest" EXACT [] synonym: "Lacy appearance of iliac crest" EXACT [] xref: UMLS:C1857186 is_a: HP:0003796 ! Irregular iliac crest [Term] id: HP:0008788 name: Delayed pubic bone ossification alt_id: HP:0008795 alt_id: HP:0008827 def: "Delayed maturation and calcification of the pubic bone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent pubic ossification in infancy" EXACT [] synonym: "Delayed maturation of pubic bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Delayed mineralization of pubic bone" RELATED layperson [] xref: UMLS:C1861528 xref: UMLS:C1866710 xref: UMLS:C4280411 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008789 name: Cone-shaped capital femoral epiphysis def: "A cone-shaped deformity of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Tear drop-shaped capital femoral epiphysis" EXACT [] xref: UMLS:C1846157 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0008794 name: Dysplastic iliac wing def: "A general term that describes a congenital defect in the iliac wing resulting from abnormal development." [] synonym: "Dysplastic iliac wings" EXACT plural_form [] xref: UMLS:C1837487 is_a: HP:0011867 ! Abnormal iliac wing morphology [Term] id: HP:0008796 name: Femoral retroversion alt_id: HP:0003783 def: "An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing)." [] comment: Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degrees at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range. synonym: "Decreased femoral torsion" EXACT [] synonym: "Externally rotated hips" EXACT layperson [] xref: UMLS:C1846339 is_a: HP:0031069 ! Abnormal femoral torsion [Term] id: HP:0008797 name: Early ossification of capital femoral epiphyses def: "Developmental acceleration of ossification of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024621 is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0008798 name: Widened greater sciatic notch alt_id: HP:0010457 def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch." [https://orcid.org/0000-0002-0736-9199] synonym: "Widened sacrosciatic notch" EXACT [] synonym: "Widening of the sacrosciatic notch" EXACT [] xref: UMLS:C4024620 is_a: HP:0010456 ! Abnormal greater sciatic notch morphology [Term] id: HP:0008800 name: Limited hip movement def: "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip." [https://orcid.org/0000-0002-0736-9199] synonym: "Limited hip movement" EXACT layperson [] xref: UMLS:C1851542 is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0008801 name: Hypoplasia of the lesser trochanter def: "Underdevelopment of the lesser trochanter." [https://orcid.org/0000-0002-0736-9199] synonym: "Lesser trochanter hypoplasia" EXACT [] xref: UMLS:C1840062 is_a: HP:0003366 ! Abnormal femoral neck/head morphology [Term] id: HP:0008802 name: Hypoplasia of the femoral head alt_id: HP:0008831 def: "Underdevelopment of the femoral head." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic femoral head" EXACT [] synonym: "Small femoral heads" EXACT [] synonym: "Small head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856920 is_a: HP:0003368 ! Abnormal femoral head morphology is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck [Term] id: HP:0008803 name: obsolete Narrow sacroiliac notch is_obsolete: true replaced_by: HP:0003375 [Term] id: HP:0008804 name: Broad femoral head def: "Increased width of the femoral head." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024619 is_a: HP:0003368 ! Abnormal femoral head morphology [Term] id: HP:0008807 name: Acetabular dysplasia alt_id: HP:0008799 def: "A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6670-9157, PMID:23764788, PMID:34377520] comment: Acetabular dysplasia can lead to hip pain and early-onset hip osteoarthritis. synonym: "Decreased femoral head coverage by acetabulum" RELATED [] synonym: "Dysplastic acetabulae" EXACT [] xref: UMLS:C1328407 is_a: HP:0003170 ! Abnormal acetabulum morphology [Term] id: HP:0008808 name: High iliac wing alt_id: HP:0008778 def: "Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [https://orcid.org/0000-0002-0736-9199] synonym: "High iliac wings" EXACT plural_form [] synonym: "Narrow, high iliac wings" EXACT [] xref: UMLS:C1969680 is_a: HP:0011867 ! Abnormal iliac wing morphology [Term] id: HP:0008812 name: Flattened femoral head def: "An abnormally flattened femoral head." [https://orcid.org/0000-0002-0736-9199] synonym: "Flat head of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flattened femoral heads" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1860601 is_a: HP:0003368 ! Abnormal femoral head morphology [Term] id: HP:0008817 name: Aplastic pubic bone def: "A developmental defect characterized by lack of development of the pubis bone." [] synonym: "Absent pubic bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic pubic bones" EXACT plural_form [] xref: UMLS:C1848660 is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0008818 name: Large iliac wing def: "Increased size of the ilium ala." [https://orcid.org/0000-0002-0736-9199] synonym: "Large iliac wings" EXACT plural_form [] xref: UMLS:C4024618 is_a: HP:0011867 ! Abnormal iliac wing morphology [Term] id: HP:0008819 name: Narrow femoral neck def: "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrow femoral necks" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Narrow neck of thigh bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1863739 is_a: HP:0003367 ! Abnormal femoral neck morphology [Term] id: HP:0008820 name: Absent ossification of capital femoral epiphysis def: "Lack of ossification of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] comment: The ossification center of the capital femoral epiphysis appears at the end of the first year after birth. synonym: "Absent ossification of femoral capital epiphyses" EXACT [] xref: UMLS:C1968686 is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0008821 name: Hypoplastic inferior ilia xref: UMLS:C1837078 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008822 name: Hypoplastic ischiopubic ramus def: "Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic ischiopubic rami" EXACT plural_form [] xref: UMLS:C4024617 is_a: HP:0003173 ! Hypoplastic pubic bone is_a: HP:0003175 ! Hypoplastic ischia [Term] id: HP:0008823 name: Inferior pubic ramus hypoplasia def: "Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus)." [] comment: The pubis is the anterior part of the hip bone and forms the anterior and inferior borders of the obturator foramen (the obturator foramen is the opening between the ischium and pubic bones). It is divisible into a body, a superior and an inferior ramus. synonym: "Hypoplastic inferior pubic rami" EXACT [] xref: UMLS:C1853573 is_a: HP:0008830 ! Hypoplastic pubic ramus [Term] id: HP:0008824 name: Hypoplastic iliac body alt_id: HP:0005740 def: "Underdevelopment of the body of ilium." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic iliac bodies" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Small iliac bodies" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1849034 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008826 name: obsolete Dislocation of the femoral head is_obsolete: true replaced_by: HP:0002827 [Term] id: HP:0008828 name: Delayed proximal femoral epiphyseal ossification def: "Developmental delay of ossification of the proximal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] comment: The proximal femoral epiphyseal ossification center normally appears at about age 6 months. synonym: "Delayed ossification of the proximal femoral epiphysis" EXACT [] synonym: "Delayed ossification proximal femoral epiphyses" EXACT [] xref: UMLS:C1855222 is_a: HP:0002663 ! Delayed epiphyseal ossification is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0008829 name: Delayed femoral head ossification def: "Delayed ossification of the femoral head." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed maturation of the head of the thigh bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846446 xref: UMLS:C4280410 is_a: HP:0003368 ! Abnormal femoral head morphology is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008830 name: Hypoplastic pubic ramus def: "Underdevelopment of a ramus (branch) of the pubic bone." [] synonym: "Hypoplastic pubic rami" EXACT plural_form [] xref: UMLS:C1969176 is_a: HP:0003173 ! Hypoplastic pubic bone [Term] id: HP:0008833 name: Irregular acetabular roof xref: UMLS:C1834975 is_a: HP:0003170 ! Abnormal acetabulum morphology [Term] id: HP:0008835 name: Multicentric femoral head ossification def: "There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers." [https://orcid.org/0000-0002-0736-9199] comment: Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to. xref: UMLS:C1846447 is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008838 name: Stippled calcification proximal humeral epiphyses synonym: "Speckled calcifications in end part of innermost long bone of upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1857243 is_a: HP:0003901 ! Stippled calcification of the humeral epiphyses [Term] id: HP:0008839 name: Hypoplastic pelvis alt_id: HP:0003373 alt_id: HP:0008816 def: "Underdevelopment of the bony pelvis." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic pelvic bones" EXACT [] synonym: "Small pelvis" EXACT [] xref: UMLS:C3536734 is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis [Term] id: HP:0008843 name: Hip osteoarthritis alt_id: HP:0008809 synonym: "Osteoarthritis of hip" EXACT [] xref: SNOMEDCT_US:239872002 xref: UMLS:C0029410 is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0008845 name: Mesomelic short stature alt_id: HP:0008896 alt_id: HP:0008903 alt_id: HP:0008910 def: "A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg)." [https://orcid.org/0000-0002-0736-9199] synonym: "Dwarfism, short limb mesomelic" EXACT [] synonym: "Mesomelic dwarfism" EXACT obsolete_synonym [] synonym: "Short stature, disproportionate mesomelic" EXACT [] synonym: "Short stature, mesomelic" EXACT [] xref: UMLS:C1855274 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008846 name: Severe intrauterine growth retardation alt_id: HP:0008899 alt_id: HP:0008906 def: "Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age." [https://orcid.org/0000-0002-0736-9199] synonym: "Intrauterine growth retardation, severe" EXACT [] synonym: "Severe prenatal growth deficiency" EXACT layperson [] xref: UMLS:C1855843 is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008848 name: Moderately short stature alt_id: HP:0008891 def: "A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex." [https://orcid.org/0000-0002-6410-0882] synonym: "Moderate short stature" EXACT layperson [] synonym: "Short stature, moderate" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1861519 is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0008850 name: Severe postnatal growth retardation alt_id: HP:0001521 alt_id: HP:0008854 alt_id: HP:0008911 alt_id: HP:0008932 def: "Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms." [https://orcid.org/0000-0002-6410-0882] synonym: "Marked growth retardation" EXACT layperson [] synonym: "Severe growth delay in children" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Severe postnatal growth deficiency" EXACT [] synonym: "Severe postnatal growth failure" EXACT layperson [] xref: UMLS:C1857641 is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0008855 name: Moderate postnatal growth retardation def: "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms." [https://orcid.org/0000-0002-6410-0882] synonym: "Moderate growth delay in children" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024616 is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0008857 name: Neonatal short-trunk short stature def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Short-trunk dwarfism identifiable at birth" EXACT [] xref: UMLS:C3149908 is_a: HP:0003521 ! Disproportionate short-trunk short stature [Term] id: HP:0008866 name: Failure to thrive secondary to recurrent infections def: "Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections." [https://en.wikipedia.org/wiki/Failure_to_thrive] synonym: "Faltering weight secondary to recurrent infections" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Weight faltering secondary to recurrent infections" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1832323 is_a: HP:0001508 ! Failure to thrive is_a: HP:0002719 ! Recurrent infections is_a: HP:0032169 ! Severe infection [Term] id: HP:0008872 name: Feeding difficulties in infancy alt_id: HP:0002016 alt_id: HP:0002022 alt_id: HP:0002568 def: "Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2674608 is_a: HP:0011968 ! Feeding difficulties [Term] id: HP:0008873 name: Disproportionate short-limb short stature alt_id: HP:0001523 alt_id: HP:0003505 alt_id: HP:0003509 alt_id: HP:0008858 alt_id: HP:0008869 alt_id: HP:0008875 alt_id: HP:0008880 alt_id: HP:0008881 alt_id: HP:0008889 alt_id: HP:0008912 alt_id: HP:0008914 alt_id: HP:0008928 def: "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk." [https://orcid.org/0000-0002-0736-9199] comment: A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionately affected. Note that brachymelia is a general term referring to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). subset: hposlim_core synonym: "Brachymelic dwarfism" EXACT [] synonym: "Disproportionate short limb dwarfism" EXACT [] synonym: "Dwarfism, short-limbed" EXACT [] synonym: "Micromelic dwarfism" EXACT [] synonym: "Short limb dwarfism" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Short limb dwarfism, disproportionate" EXACT layperson [] synonym: "Short stature, disproportionate short limb" EXACT [] synonym: "Short stature, disproportionate short-limb" EXACT [] synonym: "Short-limb dwarfism" EXACT [] synonym: "Short-limbed dwarfism" EXACT layperson [] xref: UMLS:C1849937 is_a: HP:0003498 ! Disproportionate short stature [Term] id: HP:0008883 name: Mild intrauterine growth retardation alt_id: HP:0008861 def: "Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age." [https://orcid.org/0000-0002-6410-0882] synonym: "Mild prenatal growth deficiency" EXACT [] xref: UMLS:C1840006 is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008887 name: Adipose tissue loss alt_id: HP:0008938 def: "A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024615 is_a: HP:0040063 ! Decreased adipose tissue [Term] id: HP:0008890 name: Severe short-limb dwarfism xref: UMLS:C1860105 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008897 name: Postnatal growth retardation alt_id: HP:0008844 alt_id: HP:0008865 alt_id: HP:0008868 alt_id: HP:0008901 alt_id: HP:0008918 def: "Slow or limited growth after birth." [https://orcid.org/0000-0002-6410-0882] synonym: "Growth delay as children" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Growth retardation as children" EXACT [] synonym: "Postnatal growth deceleration" EXACT [] synonym: "Postnatal growth deficiency" EXACT [] synonym: "Postnatal growth failure" EXACT [] xref: UMLS:C1859778 is_a: HP:0001510 ! Growth delay [Term] id: HP:0008905 name: Rhizomelia alt_id: HP:0002968 alt_id: HP:0003520 alt_id: HP:0008852 alt_id: HP:0008877 def: "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Disproportionately short upper portion of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Rhizomelic dwarfism" EXACT [] synonym: "Rhizomelic limb shortening" EXACT [] synonym: "Rhizomelic short limbs" EXACT [] synonym: "Rhizomelic short stature" EXACT [] synonym: "Rhizomelic shortening" EXACT [] synonym: "Short stature, rhizomelic" EXACT [] synonym: "Symmetrical rhizomelic limb shortening" EXACT [] xref: UMLS:C1866730 is_a: HP:0008873 ! Disproportionate short-limb short stature is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0008909 name: Lethal short-limbed short stature alt_id: HP:0003506 synonym: "Lethal micromelic dwarfism" EXACT [] synonym: "Lethal short-limbed dwarfism" EXACT [] xref: UMLS:C2674171 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008915 name: Childhood-onset truncal obesity alt_id: HP:0008874 def: "Truncal obesity with onset during childhood, defined as between 2 and 10 years of age." [https://orcid.org/0000-0002-0736-9199] synonym: "Truncal obesity apparent in childhood" EXACT [] xref: UMLS:C1859846 is_a: HP:0001956 ! Truncal obesity [Term] id: HP:0008921 name: Neonatal short-limb short stature alt_id: HP:0001536 alt_id: HP:0008894 alt_id: HP:0008902 alt_id: HP:0008924 def: "A type of short-limbed dwarfism that is manifest beginning in the neonatal period." [https://orcid.org/0000-0002-0736-9199] synonym: "Dwarfism, neonatal short-limbed" EXACT [] synonym: "Neonatal short-limbed dwarfism" EXACT [] synonym: "Short limb dwarfism recognisable at birth" EXACT uk_spelling [] synonym: "Short limb dwarfism recognizable at birth" EXACT layperson [] synonym: "Short-limb dwarfism identifiable at birth" EXACT layperson [] synonym: "Short-limb dwarfism identifiable neonatally" EXACT [] synonym: "Short-limbed dwarfism identifiable at birth" EXACT layperson [] xref: UMLS:C1850171 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008922 name: Childhood-onset short-trunk short stature alt_id: HP:0003522 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood." [https://orcid.org/0000-0002-0736-9199] synonym: "Childhood-onset short-trunk short stature" EXACT layperson [] synonym: "Disproportionate short-trunk short stature, identifiable in childhood" EXACT layperson [] synonym: "Short-trunk dwarfism identifiable during childhood" EXACT layperson [] xref: UMLS:C3148833 is_a: HP:0003521 ! Disproportionate short-trunk short stature [Term] id: HP:0008929 name: Asymmetric short stature xref: UMLS:C4024614 is_a: HP:0004322 ! Short stature [Term] id: HP:0008935 name: Generalized neonatal hypotonia def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised low muscle tone in neonate" EXACT uk_spelling [] synonym: "Generalised neonatal hypotonia" EXACT uk_spelling [] synonym: "Generalized low muscle tone in neonate" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypotonia, neonatal, generalised" EXACT uk_spelling [] synonym: "Hypotonia, neonatal, generalized" EXACT [] xref: UMLS:C1845123 is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0008936 name: Axial hypotonia alt_id: HP:0002320 alt_id: HP:0009062 def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [https://orcid.org/0000-0002-0736-9199] synonym: "Low muscle tone in trunk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscular hypotonia of the trunk" EXACT [] synonym: "Truncal hypotonia" EXACT [] xref: UMLS:C1853743 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0008940 name: Generalized lymphadenopathy def: "A generalized form of lymphadenopathy." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised lymphadenopathy" EXACT uk_spelling [] synonym: "Generalised swelling of lymph nodes" EXACT uk_spelling [] synonym: "Generalized swelling of lymph nodes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Swollen lymph nodes affecting all regions of the body" EXACT layperson [] xref: SNOMEDCT_US:274741002 xref: UMLS:C0476486 is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0008942 name: Acute rhabdomyolysis def: "An acute form of rhabdomyolysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Rhabdomyolysis, acute" EXACT [] xref: UMLS:C3807306 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0008944 name: Distal lower limb amyotrophy alt_id: HP:0003442 alt_id: HP:0003714 alt_id: HP:0006975 alt_id: HP:0008949 alt_id: HP:0009001 def: "Muscular atrophy of distal leg muscles." [https://orcid.org/0000-0002-0736-9199] comment: Distal lower limb muscle atrophy is commonly due to peripheral neuropathy. synonym: "Lower leg amyotrophy" EXACT [] synonym: "Lower limb atrophy" RELATED [] synonym: "Lower limb degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Lower limb muscle hypotrophy" RELATED [] synonym: "Muscle atrophy, lower limb, distal" EXACT [] xref: UMLS:C1836451 xref: UMLS:C1866863 xref: UMLS:C3806644 is_a: HP:0003693 ! Distal amyotrophy is_a: HP:0007210 ! Lower limb amyotrophy [Term] id: HP:0008945 name: Loss of ability to walk in early childhood xref: UMLS:C1835993 is_a: HP:0002505 ! Loss of ambulation [Term] id: HP:0008946 name: Pelvic girdle amyotrophy def: "Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Hip girdle amyotrophy" EXACT [] xref: UMLS:C4021528 is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0008947 name: Floppy infant alt_id: HP:0002449 alt_id: HP:0002523 alt_id: HP:0010572 def: "Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape)." [PMID:19078754] comment: This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. synonym: "Decreased muscle tone in infant" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypotonia early" EXACT [] synonym: "Hypotonia in infancy" EXACT [] synonym: "Hypotonia, early" EXACT [] synonym: "Infantile hypotonia" EXACT [] synonym: "Infantile muscular hypotonia" EXACT [] xref: UMLS:C1860834 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0008948 name: Proximal upper limb amyotrophy alt_id: HP:0008995 def: "Muscular atrophy affecting proximally located muscles of the arms." [https://orcid.org/0000-0002-0736-9199] synonym: "Proximal muscle atrophy in upper limbs" EXACT [] synonym: "Proximal upper limb muscle atrophy" EXACT [] xref: UMLS:C1866013 is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008952 name: Shoulder muscle hypoplasia def: "Underdevelopment of muscles of the shoulder." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped shoulder muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1969001 is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0008953 name: Pectoralis major hypoplasia def: "Underdevelopment of the pectoralis major." [https://orcid.org/0000-0002-0736-9199] comment: The pectoralis major is a thick, fan-shaped muscle of the anterior chest. synonym: "Pectoralis major muscle hypoplasia" EXACT [] xref: UMLS:C1840086 is_a: HP:0011957 ! Abnormal pectoral muscle morphology [Term] id: HP:0008954 name: Intrinsic hand muscle atrophy def: "Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1864716 is_a: HP:0009130 ! Hand muscle atrophy [Term] id: HP:0008955 name: Progressive distal muscular atrophy def: "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024613 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008956 name: Proximal lower limb amyotrophy alt_id: HP:0003748 alt_id: HP:0008974 def: "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh." [https://orcid.org/0000-0002-0736-9199] synonym: "Amyotrophy involving the thigh" EXACT [] synonym: "Amyotrophy of the thigh musculature" EXACT [] synonym: "Proximal lower limb muscle atrophy" EXACT [] synonym: "Thigh muscle atrophy" EXACT [] synonym: "Wasting of thigh muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836767 is_a: HP:0001441 ! Abnormality thigh musculature morphology is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008959 name: Distal upper limb muscle weakness def: "Reduced strength of the distal musculature of the arms." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3150620 is_a: HP:0002460 ! Distal muscle weakness is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0008962 name: Calf muscle hypoplasia def: "Underdevelopment of the muscuklature of the calf." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic calf muscles" EXACT [] synonym: "Underdeveloped calf muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3805450 is_a: HP:0001430 ! Abnormal calf musculature morphology is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0008963 name: Tibialis muscle weakness def: "Muscle weakness affecting the tibialis anterior muscle." [https://orcid.org/0000-0002-0736-9199] comment: This is a bundled term which should be made obsolete. xref: UMLS:C4024612 is_a: HP:0009053 ! Distal lower limb muscle weakness [Term] id: HP:0008964 name: Nonprogressive muscular atrophy def: "Muscular atrophy that does not display a progression in severity with time." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024611 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0008967 name: Exercise-induced muscle stiffness alt_id: HP:0003633 def: "A type of muscle stiffness that occurs following physical exertion." [https://orcid.org/0000-0002-0736-9199] synonym: "Exercise-induced muscle stiffness" EXACT layperson [] synonym: "Muscle stiffness with exercise" EXACT layperson [] synonym: "Muscle stiffness, exercise-induced" EXACT layperson [] xref: UMLS:C1855579 is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008968 name: Muscle hypertrophy of the lower extremities def: "Muscle hypertrophy primarily affecting the legs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1850663 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0008969 name: Leg muscle stiffness xref: UMLS:C4024610 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008970 name: Scapulohumeral muscular dystrophy xref: SNOMEDCT_US:240074006 xref: UMLS:C0410192 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0008972 name: Decreased activity of mitochondrial respiratory chain def: "Decreased activity of the mitochondrial respiratory chain." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased activities of mitochondrial-encoded respiratory chain complexes" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Decreased activity of mitochondrial respiratory complexes" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1835995 xref: UMLS:C3276441 xref: UMLS:C4024609 is_a: HP:0011922 ! Abnormal activity of mitochondrial respiratory chain [Term] id: HP:0008978 name: Necrotizing myopathy xref: UMLS:C4024608 is_a: HP:0003198 ! Myopathy [Term] id: HP:0008981 name: Calf muscle hypertrophy alt_id: HP:0003703 alt_id: HP:0009024 def: "Muscle hypertrophy affecting the calf muscles." [https://orcid.org/0000-0002-0736-9199] comment: Distal lower limb hypertrophy synonym: "Calf hypertrophy" EXACT [] synonym: "Increased size of calf muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscular hypertrophy of the calf muscles" EXACT [] xref: UMLS:C1843057 is_a: HP:0001430 ! Abnormal calf musculature morphology is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0008984 name: Neck muscle hypoplasia def: "Underdevelopment of muscles of the neck." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased size of neck muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of neck muscle" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic neck muscle" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small neck muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of neck muscle" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1969000 xref: UMLS:C4280408 xref: UMLS:C4280409 is_a: HP:0009004 ! Hypoplasia of the musculature is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0008985 name: Increased intramuscular fat def: "An abnormal increase in the amount of intramuscular fat tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased IM fat" EXACT abbreviation [] synonym: "Increased intramuscular fat" EXACT layperson [] xref: UMLS:C1835389 is_a: HP:0009126 ! Increased adipose tissue is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0008986 name: Agenesis of the diaphragm def: "Congenital lack, i.e., aplasia of the diaphragm." [https://orcid.org/0000-0002-0736-9199] comment: An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity. synonym: "Absent diaphragm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Agenesis of diaphragm" RELATED [] xref: SNOMEDCT_US:702613006 xref: SNOMEDCT_US:72424001 xref: UMLS:C0221360 is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm [Term] id: HP:0008988 name: Pelvic girdle muscle atrophy alt_id: HP:0008992 def: "Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles)." [https://orcid.org/0000-0002-0736-9199] synonym: "Pelvic girdle muscle wasting" EXACT [] xref: UMLS:C0240679 is_a: HP:0001445 ! Abnormality of the hip-girdle musculature is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis [Term] id: HP:0008991 name: Exercise-induced leg cramps def: "Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024607 is_a: HP:0003710 ! Exercise-induced muscle cramps [Term] id: HP:0008993 name: Increased intraabdominal fat def: "An abnormal increase in the amount of intraabdominal fat tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1835390 is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0008994 name: Proximal muscle weakness in lower limbs alt_id: HP:0002455 alt_id: HP:0008941 def: "A lack of strength of the proximal muscles of the legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle weakness, proximal, lower limbs" EXACT [] xref: UMLS:C1866010 is_a: HP:0003690 ! Limb muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0008997 name: Proximal muscle weakness in upper limbs def: "A lack of strength of the proximal muscles of the arms." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1866012 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003484 ! Upper limb muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0008998 name: Pectoralis hypoplasia def: "Underdevelopment of the pectoral muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic pectoral muscle" EXACT [] synonym: "Small pec muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped pec muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846477 is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0009002 name: Loss of truncal subcutaneous adipose tissue alt_id: HP:0008989 def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of fat tissue in trunk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Loss of subcutaneous truncal adipose tissue" EXACT [] synonym: "Loss of truncal adipose tissue" EXACT [] xref: UMLS:C1835384 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0009003 name: Increased subcutaneous truncal adipose tissue def: "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased fat below the skin in trunk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837781 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0009004 name: Hypoplasia of the musculature alt_id: HP:0009034 def: "Underdevelopment of the musculature." [https://orcid.org/0009-0006-4530-3154] synonym: "Muscle hypoplasia" EXACT [] synonym: "Poorly developed skeletal musculature" EXACT layperson [] synonym: "Underdeveloped muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped muscles" EXACT [] xref: SNOMEDCT_US:205530002 xref: UMLS:C0240414 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature [Term] id: HP:0009005 name: Weakness of the intrinsic hand muscles synonym: "Intrinsic hand muscle weakness" RELATED [] xref: UMLS:C1834536 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0009007 name: Biceps hypoplasia def: "Underdevelopment of the biceps muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic biceps" EXACT [] synonym: "Underdeveloped biceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1862499 is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps is_a: HP:0030239 ! Hypoplasia of the upper arm musculature [Term] id: HP:0009011 name: Hypoplasia of serratus anterior muscle def: "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1868167 is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009013 name: Congenital absence of gluteal muscles xref: UMLS:C2930932 is_a: HP:0001443 ! Abnormality of the gluteal musculature is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis [Term] id: HP:0009016 name: Upper limb muscle hypoplasia def: "Underdevelopment of muscles of the arm." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdevelopment of upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846478 is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0009017 name: Loss of gluteal subcutaneous adipose tissue def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of fat tissue below the skin in gluts" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024606 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0009019 name: Progressive loss of facial adipose tissue synonym: "Atrophy of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial fat atrophy" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial fat wasting" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Loss of subcutaneous adipose tissue from face, progressive" EXACT [] synonym: "Progressive loss of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Progressive loss of facial subcutaneous adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4462] synonym: "Progressive loss of subcutaneous adipose tissue from face" EXACT [https://orcid.org/0000-0001-5889-4461] xref: UMLS:C1837510 is_a: HP:0000292 ! Loss of facial adipose tissue [Term] id: HP:0009020 name: Exercise-induced muscle fatigue def: "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855580 is_a: HP:0003750 ! Increased muscle fatiguability [Term] id: HP:0009023 name: Abdominal wall muscle weakness alt_id: HP:0001546 alt_id: HP:0004873 def: "Decreased strength of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199] comment: This may be associated with protuberance of the abdomen. synonym: "Lax abdominal musculature" EXACT [] xref: UMLS:C4021527 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0009025 name: Increased connective tissue def: "The presence of an abnormally increased amount of connective tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1866021 is_a: HP:0003549 ! Abnormality of connective tissue [Term] id: HP:0009026 name: Hypoplasia of latissimus dorsi muscle def: "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3805860 is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009027 name: Foot dorsiflexor weakness alt_id: HP:0003377 def: "Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles." [https://orcid.org/0000-0002-0736-9199] comment: Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. synonym: "Foot drop" EXACT layperson [] synonym: "Foot extensor weakness" EXACT [] synonym: "Footdrop" EXACT [] synonym: "Inability to heel walk" EXACT layperson [] synonym: "Inability to walk on heels" EXACT layperson [] xref: SNOMEDCT_US:6077001 xref: UMLS:C0085684 xref: UMLS:C1866141 is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0009028 name: Generalized weakness of limb muscles def: "Generalized weakness of the muscles of the arms and legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised weakness of limb muscles" EXACT uk_spelling [] xref: UMLS:C4024605 is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0009031 name: Amyotrophy of ankle musculature def: "Atrophy of the muscles of the ankle." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024604 is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0009037 name: Segmental spinal muscular atrophy xref: UMLS:C1866774 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009042 name: obsolete Marked muscular hypertrophy is_obsolete: true replaced_by: HP:0003712 [Term] id: HP:0009044 name: obsolete Hypoplasia of deltoid muscle is_obsolete: true replaced_by: HP:0030241 [Term] id: HP:0009045 name: Exercise-induced rhabdomyolysis def: "Rhabdomyolysis induced by exercise." [https://orcid.org/0000-0002-0736-9199] synonym: "Rhabdomyolysis with exercise" EXACT [] xref: UMLS:C4021526 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0009046 name: Difficulty running def: "Reduced ability to run." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty running" EXACT layperson [] xref: SNOMEDCT_US:282479002 xref: UMLS:C0560346 is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0009049 name: Peroneal muscle atrophy alt_id: HP:0008939 alt_id: HP:0008982 def: "Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius)." [https://orcid.org/0000-0002-0736-9199] comment: The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. synonym: "Peroneal atrophy" EXACT [] xref: UMLS:C1389118 is_a: HP:0001430 ! Abnormal calf musculature morphology is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0009050 name: Quadriceps muscle atrophy def: "Muscular atrophy involving the quadriceps muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Wasting of quad muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024603 is_a: HP:0008956 ! Proximal lower limb amyotrophy [Term] id: HP:0009051 name: Increased muscle glycogen content def: "An increased amount of glycogen in muscle tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1968729 is_a: HP:0012269 ! Abnormal muscle glycogen content [Term] id: HP:0009053 name: Distal lower limb muscle weakness alt_id: HP:0003485 alt_id: HP:0009035 def: "Reduced strength of the distal musculature of the legs." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be due to peripheral neuropathy. synonym: "Distal muscle weakness in lower limbs" EXACT [] synonym: "Muscle weakness, lower limb, distal" EXACT [] xref: UMLS:C1836450 is_a: HP:0002460 ! Distal muscle weakness is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0007340 ! Lower limb muscle weakness [Term] id: HP:0009054 name: Scapuloperoneal myopathy xref: UMLS:C2931268 is_a: HP:0001430 ! Abnormal calf musculature morphology is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009055 name: Generalized limb muscle atrophy alt_id: HP:0003788 def: "Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised limb muscle atrophy" EXACT uk_spelling [] synonym: "Generalised muscle atrophy, proximal and distal" EXACT uk_spelling [] synonym: "Generalised muscle wasting" EXACT uk_spelling [] synonym: "Generalized muscle atrophy, proximal and distal" EXACT [] synonym: "Generalized muscle wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1838114 is_a: HP:0003700 ! Generalized amyotrophy [Term] id: HP:0009056 name: Loss of subcutaneous adipose tissue from upper limbs synonym: "Loss of fat tissue below the skin from upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024602 is_a: HP:0003635 ! Loss of subcutaneous adipose tissue in limbs [Term] id: HP:0009058 name: Increased muscle lipid content alt_id: HP:0100949 def: "An abnormal accumulation of lipids in skeletal muscle." [https://orcid.org/0000-0002-0736-9199, PMID:20691590] comment: Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy. synonym: "Fat accumulation in muscle fibers" EXACT layperson [] synonym: "Fat accumulation in muscle fibres" EXACT uk_spelling [] synonym: "Fat deposits in muscle fibers" EXACT layperson [] synonym: "Fat deposits in muscle fibres" EXACT uk_spelling [] synonym: "Increased muscle lipid content" EXACT layperson [] synonym: "Lipid accumulation in skeletal muscle" EXACT layperson [] synonym: "Muscle lipidosis" EXACT [] synonym: "Skeletal muscle lipid accumulation" EXACT layperson [] xref: UMLS:C1837262 is_a: HP:0034370 ! Abnormal muscle tissue metabolite concentration [Term] id: HP:0009059 name: Congenital generalized lipodystrophy synonym: "Congenital generalised lipodystrophy" EXACT uk_spelling [] xref: SNOMEDCT_US:284449005 xref: SNOMEDCT_US:86907008 xref: UMLS:C0221032 is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009060 name: Scapular muscle atrophy def: "Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle." [https://orcid.org/0000-0002-0736-9199] comment: Need to add new UBERON term for scapula muscle xref: UMLS:C3805969 is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009062 name: obsolete Infantile axial hypotonia is_obsolete: true replaced_by: HP:0008936 [Term] id: HP:0009063 name: Progressive distal muscle weakness alt_id: HP:0008933 alt_id: HP:0009022 alt_id: HP:0009057 def: "Progressively reduced strength of the distal musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscle weakness, distal, progressive" EXACT [] synonym: "Muscle weakness, progressive, distal" EXACT [] xref: UMLS:C1836609 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009064 name: Generalized lipodystrophy alt_id: HP:0008966 def: "Generalized degenerative changes of the fat tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Generalised lipodystrophy" EXACT uk_spelling [] synonym: "Lipodystrophy, generalised" EXACT uk_spelling [] synonym: "Lipodystrophy, generalized" EXACT [] xref: SNOMEDCT_US:284449005 xref: SNOMEDCT_US:86907008 xref: UMLS:C0221032 is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009067 name: Progressive spinal muscular atrophy def: "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive spinal muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Progressive spinal muscle wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4082951 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009069 name: Lethal infantile mitochondrial myopathy xref: UMLS:C1838876 is_a: HP:0003737 ! Mitochondrial myopathy [Term] id: HP:0009071 name: Inflammatory myopathy def: "Chronic muscle inflammation accompanied by muscle weakness." [PMID:19349710] xref: SNOMEDCT_US:128496001 xref: SNOMEDCT_US:26889001 xref: UMLS:C0027121 is_a: HP:0003198 ! Myopathy [Term] id: HP:0009072 name: Decreased Achilles reflex def: "Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyporeflexia at ankle joints" EXACT [] xref: UMLS:C1837323 is_a: HP:0002600 ! Hyporeflexia of lower limbs [Term] id: HP:0009073 name: Progressive proximal muscle weakness alt_id: HP:0008965 def: "Lack of strength of the proximal muscles that becomes progressively more severe." [https://orcid.org/0000-0002-0736-9199] comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. synonym: "Muscle weakness, progressive, proximal" EXACT [] xref: UMLS:C1836156 is_a: HP:0003323 ! Progressive muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0009077 name: Weakness of long finger extensor muscles xref: UMLS:C4024601 is_a: HP:0030237 ! Hand muscle weakness [Term] id: HP:0009084 name: Midline notch of upper alveolar ridge synonym: "Midline cleft of maxillary alveolar process" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Midline cleft of upper alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Midline notch of maxillary alveolar process" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Midline notch of maxillary alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Midline notch of upper gum ridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1851853 is_a: HP:0006477 ! Abnormal alveolar ridge morphology [Term] id: HP:0009085 name: Alveolar ridge overgrowth alt_id: HP:0009078 alt_id: HP:0009083 def: "Increased width of the alveolar ridges." [PMID:19125428] comment: This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding. subset: hposlim_core synonym: "Alveolar ridge excess" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Enlarged alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophied alveolar ridge" RELATED [] synonym: "Increased size of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of gum ridge" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of alveolar ridge" EXACT [] synonym: "Overgrowth of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick alveolar ridges" EXACT [] synonym: "Thickened alveolar ridges" EXACT [] xref: UMLS:C1856164 xref: UMLS:C1865598 is_a: HP:0006477 ! Abnormal alveolar ridge morphology [Term] id: HP:0009087 name: Posteriorly placed tongue synonym: "Posteriorly placed tongue" EXACT layperson [] xref: UMLS:C4024600 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0009088 name: Speech articulation difficulties def: "Impairment in the physical production of speech sounds." [] comment: Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities). xref: UMLS:C1865313 is_a: HP:0001608 ! Abnormality of the voice is_a: HP:0002463 ! Language impairment property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0009090 name: obsolete Facial diplegic appearance is_obsolete: true consider: HP:0001349 [Term] id: HP:0009092 name: Progressive alveolar ridge hypertrophy synonym: "Increasing overgrowth of gum ridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increasing size of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Progressive hypertrophy of alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1854934 xref: UMLS:C4280407 is_a: HP:0006477 ! Abnormal alveolar ridge morphology [Term] id: HP:0009094 name: Cleft lower alveolar ridge synonym: "Cleft of lower alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of lower gingiva" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of lower gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of mandibular alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of mandibular gingiva" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Notch of lower alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Notch of lower alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Notch of lower gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Notch of mandibular alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Notch of mandibular alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849350 xref: UMLS:C4280404 xref: UMLS:C4280405 xref: UMLS:C4280406 is_a: HP:0006477 ! Abnormal alveolar ridge morphology [Term] id: HP:0009098 name: Chronic oral candidiasis def: "Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx." [] synonym: "Chronic oral thrush" EXACT layperson [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024599 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0009099 name: Median cleft palate alt_id: HP:0008501 alt_id: HP:0009089 def: "Cleft palate of the midline of the palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Central cleft palate" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midline cleft palate" EXACT layperson [] xref: UMLS:C1850968 is_a: HP:0000175 ! Cleft palate [Term] id: HP:0009100 name: Thick anterior alveolar ridges synonym: "Thick anterior alveolar process of jaw" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859377 is_a: HP:0009085 ! Alveolar ridge overgrowth [Term] id: HP:0009101 name: Submucous cleft lip def: "A cleft of the lip with overlying mucous membrane." [https://orcid.org/0000-0002-0736-9199] comment: Submucous cleft lip may lead to increased nasal resonance. synonym: "Submucous labial cleft" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839277 is_a: HP:5201010 ! Microform cleft of the upper lip [Term] id: HP:0009102 name: Anterior open-bite malocclusion alt_id: HP:0200095 def: "Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion." [https://orcid.org/0000-0002-9338-3017, PMID:27615261] synonym: "Absence of overlap of anterior upper and lower teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anterior open bite" EXACT [] synonym: "Anterior open bite between upper and lower teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anterior openbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "AOB" EXACT abbreviation [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Apertognathia malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Gap between upper and lower front teeth when biting" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024598 is_a: HP:0000689 ! Dental malocclusion is_a: HP:0010807 ! Open bite [Term] id: HP:0009103 name: Aplasia/Hypoplasia involving the pelvis synonym: "Absent/small pelvis" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped pelvis" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024597 is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T08:40:00Z [Term] id: HP:0009104 name: Aplasia/Hypoplasia of the pubic bone alt_id: HP:0008841 def: "Absence or underdevelopment of the pubic bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small pubic bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped pubic bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic/aplastic pubic bones" EXACT layperson [] xref: UMLS:C1849305 is_a: HP:0003172 ! Abnormal pubic bone morphology is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009105 name: Abnormal ossification of the pubic bone def: "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of the pubic bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024596 xref: UMLS:C4280403 is_a: HP:0003172 ! Abnormal pubic bone morphology is_a: HP:0009106 ! Abnormal pelvis bone ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009106 name: Abnormal pelvis bone ossification def: "An abnormality of the formation and mineralization of any bone of the bony pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of the pelvis bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal ossification involving the bones of the pelvis" EXACT [] xref: UMLS:C4021525 xref: UMLS:C4280402 is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology is_a: HP:0003336 ! Abnormal enchondral ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009107 name: Abnormal ossification involving the femoral head and neck synonym: "Abnormal maturation of thigh bone head and neck" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024595 is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0003366 ! Abnormal femoral neck/head morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009108 name: Aplasia/Hypoplasia involving the femoral head and neck synonym: "Absent/small head and neck of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped head and neck of thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024594 is_a: HP:0003366 ! Abnormal femoral neck/head morphology is_a: HP:0005613 ! Aplasia/hypoplasia of the femur is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-04T08:44:00Z [Term] id: HP:0009109 name: Denervation of the diaphragm def: "Interruption of the innervation of the diaphragm." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1858529 is_a: HP:0000775 ! Abnormality of the diaphragm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T10:41:00Z [Term] id: HP:0009110 name: Diaphragmatic eventration alt_id: HP:0009114 def: "A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development." [https://orcid.org/0000-0002-0736-9199] synonym: "Eventration of the diaphragm" RELATED [] xref: SNOMEDCT_US:34168003 xref: UMLS:C0011981 is_a: HP:0000775 ! Abnormality of the diaphragm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T10:42:00Z [Term] id: HP:0009112 name: Aplasia of the left hemidiaphragm alt_id: HP:0040048 def: "Congenital absence of the left half of the diaphragm." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent left hemidiaphragm" EXACT [] synonym: "Left diaphragmatic hernia" EXACT [] xref: UMLS:C4024593 is_a: HP:0000776 ! Congenital diaphragmatic hernia is_a: HP:0040046 ! Abnormal left hemidiaphragm morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009113 name: Diaphragmatic weakness alt_id: HP:0005953 alt_id: HP:0009111 def: "A decrease in the strength of the diaphragm." [https://orcid.org/0000-0002-0736-9199, PMID:2509822] comment: Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination. synonym: "Diaphragmatic paraparesis" EXACT [] synonym: "Diminished diaphragmatic motion" RELATED [] synonym: "Weak diaphragm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95438009 xref: UMLS:C0521532 xref: UMLS:C4020786 is_a: HP:0001324 ! Muscle weakness property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009115 name: Aplasia/hypoplasia involving the skeleton def: "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small skeleton" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped skeleton" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024592 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009116 name: Aplasia/Hypoplasia involving bones of the skull xref: UMLS:C4024591 is_a: HP:0000929 ! Abnormal skull morphology is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009117 name: Aplasia/Hypoplasia of the maxilla def: "Absence or underdevelopment of the maxilla." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdevelopment of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024590 is_a: HP:0000326 ! Abnormal maxilla morphology is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009118 name: Aplasia/Hypoplasia of the mandible def: "Absence or underdevelopment of the mandible." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3494426 xref: UMLS:C4021371 xref: UMLS:C4024589 xref: UMLS:C4280261 xref: UMLS:C4280401 is_a: HP:0000277 ! Abnormal mandible morphology is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009119 name: Aplasia/Hypoplasia of the frontal sinuses def: "Absence or underdevelopment of frontal sinus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormally small frontal sinus" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024588 is_a: HP:0002687 ! Abnormality of frontal sinus is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:00:00Z [Term] id: HP:0009120 name: Aplasia/Hypoplasia involving the sinuses def: "Absence or underdevelopment of a cranial sinus or sinuses." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024587 is_a: HP:0000245 ! Abnormal paranasal sinus morphology is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:01:00Z [Term] id: HP:0009121 name: Abnormal axial skeleton morphology def: "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the axial skeleton" RELATED [] xref: UMLS:C4020785 xref: UMLS:C4024586 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:16:00Z [Term] id: HP:0009122 name: Aplasia/hypoplasia affecting bones of the axial skeleton def: "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024585 is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton is_a: HP:0009121 ! Abnormal axial skeleton morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:29:00Z [Term] id: HP:0009123 name: Mixed hypo- and hyperpigmentation of the skin xref: UMLS:C4024584 is_a: HP:0000953 ! Hyperpigmentation of the skin is_a: HP:0001010 ! Hypopigmentation of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:36:00Z [Term] id: HP:0009124 name: Abnormal adipose tissue morphology def: "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of adipose tissue" EXACT layperson [] synonym: "Abnormality of fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of fatty tissue" EXACT layperson [] xref: UMLS:C4021524 is_a: HP:0003549 ! Abnormality of connective tissue property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009125 name: Lipodystrophy def: "Degenerative changes of the fat tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Inability to make and keep healthy fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:71325002 xref: UMLS:C0023787 is_a: HP:0009124 ! Abnormal adipose tissue morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009126 name: Increased adipose tissue def: "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased adipose tissue" EXACT layperson [] synonym: "Increased fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024583 is_a: HP:0009025 ! Increased connective tissue is_a: HP:0009124 ! Abnormal adipose tissue morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-05T11:43:00Z [Term] id: HP:0009127 name: Abnormality of the musculature of the limbs synonym: "Abnormal limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Muscle issues in the arms and/or legs" EXACT layperson [] xref: UMLS:C4024582 is_a: HP:0011805 ! Abnormal skeletal muscle morphology is_a: HP:0040064 ! Abnormality of limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T02:00:00Z [Term] id: HP:0009128 name: Aplasia/Hypoplasia involving the musculature of the extremities synonym: "Absent/small muscles of extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped muscles of extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024581 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature is_a: HP:0009127 ! Abnormality of the musculature of the limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T02:01:00Z [Term] id: HP:0009129 name: Upper limb amyotrophy alt_id: HP:0003471 def: "Muscular atrophy involving the muscles of the upper limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Amyotrophy involving the upper limbs" EXACT [] xref: UMLS:C4021523 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003202 ! Skeletal muscle atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009130 name: Hand muscle atrophy alt_id: HP:0006967 alt_id: HP:0008934 alt_id: HP:0008951 alt_id: HP:0009038 def: "Muscular atrophy involving the muscles of the hand." [https://orcid.org/0000-0002-0736-9199] comment: This term can be used to described bilateral amyotrophy of the musculature of the hand. synonym: "Amyotrophy involving the musculature of the hand" EXACT [] synonym: "Amyotrophy of hand muscles" EXACT [] synonym: "Hand muscle degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hand muscle wasting" EXACT [] synonym: "Hand muscle wasting, bilateral" EXACT [] xref: UMLS:C0239830 is_a: HP:0001421 ! Abnormality of the musculature of the hand is_a: HP:0007149 ! Distal upper limb amyotrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009131 name: Abnormality of the musculature of the thorax def: "A disease or lesion affecting the muscles of the thorax." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024580 is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T05:06:00Z [Term] id: HP:0009132 name: Abnormal tarsal bone mineral density def: "This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of bone mineral density involving tarsal bones" EXACT [] xref: UMLS:C4021522 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0004348 ! Abnormality of bone mineral density property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0009134 name: Osteolysis involving bones of the feet xref: UMLS:C4024579 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:43:00Z [Term] id: HP:0009136 name: Duplication involving bones of the feet synonym: "Duplication involving bones of the feet" EXACT layperson [] xref: UMLS:C4024578 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0040069 ! Abnormal lower limb bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:45:00Z [Term] id: HP:0009138 name: Synostosis involving bones of the lower limbs def: "An abnormal union between bones or parts of bones lower limbs." [https://orcid.org/0009-0006-4530-3154] synonym: "Fusion involving the bones of the lower limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024577 is_a: HP:0040069 ! Abnormal lower limb bone morphology is_a: HP:0100240 ! Synostosis of joints is_a: HP:0100491 ! Abnormality of lower limb joint property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:51:00Z [Term] id: HP:0009139 name: Osteolysis involving bones of the lower limbs xref: UMLS:C4024576 is_a: HP:0002797 ! Osteolysis is_a: HP:0040069 ! Abnormal lower limb bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:52:00Z [Term] id: HP:0009140 name: Synostosis involving bones of the feet synonym: "Fusion involving the bones of the feet" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024575 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0009138 ! Synostosis involving bones of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:54:00Z [Term] id: HP:0009141 name: Depletion of mitochondrial DNA in muscle tissue alt_id: HP:0009070 synonym: "Depletion of mitochondrial dna in skeletal muscle tissue" EXACT [] xref: UMLS:C4021521 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction is_a: HP:0030059 ! Mitochondrial depletion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-05-02T12:00:00Z [Term] id: HP:0009142 name: Duplication of bones involving the upper extremities synonym: "Duplication of bones involving the upper extremities" EXACT layperson [] xref: UMLS:C4024574 is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-05-02T01:23:00Z [Term] id: HP:0009144 name: Supernumerary bones of the axial skeleton xref: UMLS:C4024573 is_a: HP:0009121 ! Abnormal axial skeleton morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-05-02T01:29:00Z [Term] id: HP:0009145 name: Abnormal cerebral artery morphology def: "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cerebral artery" EXACT layperson [] synonym: "Abnormality of the cerebral arteries" EXACT layperson [] xref: UMLS:C4021520 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0100659 ! Abnormal cerebral vascular morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-05-02T01:39:00Z [Term] id: HP:0009147 name: Enlarged epiphysis of the distal phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024572 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T01:39:32Z [Term] id: HP:0009148 name: Small epiphysis of the distal phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024571 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T01:40:08Z [Term] id: HP:0009149 name: Triangular epiphysis of the distal phalanx of the 5th finger alt_id: HP:0009137 def: "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the distal phalanx of the 5th finger" EXACT [] synonym: "Triangular end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021519 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T01:40:48Z [Term] id: HP:0009150 name: Abnormality of the proximal phalanx of the 5th finger def: "Abnormality of the proximal phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the innermost bone little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the innermost bone pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the innermost bone pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024570 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T02:00:20Z [Term] id: HP:0009152 name: Abnormality of the epiphyses of the 5th finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Abnormality of end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024569 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T02:07:27Z [Term] id: HP:0009153 name: Abnormality of the epiphysis of the proximal phalanx of the 5th finger def: "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024568 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T05:47:42Z [Term] id: HP:0009154 name: Triangular epiphysis of the proximal phalanx of the 5th finger alt_id: HP:0009156 def: "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 5th finger" EXACT layperson [] synonym: "Triangular end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021518 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009155 name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Angel-shaped epiphysis of the proximal phalanx of the 5th finger" RELATED [] synonym: "Cone-shaped end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of the proximal phalanx of the little finger" RELATED [] xref: UMLS:C4020783 xref: UMLS:C4020784 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009157 name: Ivory epiphysis of the proximal phalanx of the 5th finger def: "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the innermost bone of little finger" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density of end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density of end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ivory epiphysis of the proximal phalanx of the little finger" RELATED layperson [] xref: UMLS:C4020782 xref: UMLS:C4024567 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009158 name: Enlarged epiphysis of the proximal phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024566 is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009159 name: Small epiphysis of the proximal phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024565 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009160 name: Absent epiphysis of the proximal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent end part of the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent end part of the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024564 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009161 name: Aplasia/Hypoplasia of the middle phalanx of the 5th finger alt_id: HP:0006242 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic middle phalanx of 5th finger" EXACT [] synonym: "Absent/small middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834034 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T05:55:56Z [Term] id: HP:0009162 name: Absent middle phalanx of 5th finger alt_id: HP:0005774 def: "Absence of the middle phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the middle phalanx of the 5th finger" EXACT [] xref: UMLS:C3277750 is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T06:08:40Z [Term] id: HP:0009163 name: obsolete Abnormal form of the 5th finger is_obsolete: true consider: HP:0004207 [Term] id: HP:0009164 name: Abnormal calcification of the carpal bones alt_id: HP:0006154 synonym: "Abnormal calcification of the wrist bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Carpal calcifications" EXACT [] xref: UMLS:C1968592 is_a: HP:0006257 ! Abnormality of carpal bone ossification is_a: HP:0010766 ! Ectopic calcification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-22T06:53:39Z [Term] id: HP:0009165 name: Stippling of the epiphysis of the distal phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024563 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T02:07:42Z [Term] id: HP:0009166 name: Fragmentation of the epiphysis of the distal phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024562 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T02:14:33Z [Term] id: HP:0009167 name: Irregular epiphysis of the distal phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular end part of the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular end part of the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024561 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T02:18:06Z [Term] id: HP:0009168 name: Bullet-shaped middle phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024560 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T02:44:53Z [Term] id: HP:0009169 name: Broad middle phalanx of the 5th finger def: "Increased width of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide middle phalanx of the 5th finger" EXACT [] xref: UMLS:C4021517 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009844 ! Broad middle phalanx of finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T02:49:04Z [Term] id: HP:0009170 name: Osteolytic defects of the middle phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024559 is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T02:51:32Z [Term] id: HP:0009171 name: Triangular epiphyses of the metacarpals def: "A triangular appearance of the epiphyses of the metacarpals. These epiphyses are located at the distal end of the metacarpals." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024558 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology is_a: HP:0010587 ! Triangular epiphysis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009172 name: Abnormal 4th finger phalanx morphology alt_id: HP:0004191 def: "Abnormality of the phalanges of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal bones of 4th finger" EXACT layperson [] synonym: "Abnormality of the phalanges of the ring finger" EXACT [] xref: UMLS:C4021516 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T04:18:24Z [Term] id: HP:0009173 name: Curved middle phalanx of the 5th finger def: "Curved appearance of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Curved middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Curved middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024557 is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009846 ! Curved middle phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T03:05:04Z [Term] id: HP:0009174 name: Abnormality of the epiphyses of the 4th finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024556 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T04:23:43Z [Term] id: HP:0009175 name: Patchy sclerosis of the middle phalanx of the 5th finger def: "Patchy increase in bone density of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024555 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100907 ! Sclerosis of the middle phalanx of the 5th finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T03:10:34Z [Term] id: HP:0009177 name: Proximal/middle symphalangism of 5th finger alt_id: HP:0005835 alt_id: HP:0006025 alt_id: HP:0009235 def: "Fusion of the proximal and middle phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost and middle bones of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused innermost and middle bones of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused innermost and middle bones of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Proximal 5th finger symphalangism" EXACT [] synonym: "Proximal fifth finger symphalangism" EXACT [] synonym: "Symphalangism of the proximal and middle phalanges of the 5th finger" EXACT [] xref: UMLS:C1836212 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T03:17:08Z [Term] id: HP:0009178 name: Symphalangism of middle phalanx of 5th finger def: "Fusion of the middle phalanx of the 5th finger with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused middle bones of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused middle bones of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused middle bones of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024554 is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T03:17:43Z [Term] id: HP:0009179 name: Deviation of the 5th finger alt_id: HP:0006036 def: "Displacement of the 5th finger from its normal position." [https://orcid.org/0009-0006-4530-3154] synonym: "Displaced little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Displaced pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Displaced pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Laterally displaced fifth finger" EXACT [] xref: UMLS:C4021515 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004207 ! Abnormal 5th finger morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T03:29:20Z [Term] id: HP:0009180 name: Ulnar deviation of the 5th finger def: "Displacement of the 5th finger towards the ulnar side." [https://orcid.org/0009-0006-4530-3154] xref: UMLS:C4024553 is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009465 ! Ulnar deviation of finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T03:30:05Z [Term] id: HP:0009182 name: Triangular shaped middle phalanx of the 5th finger def: "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024552 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T04:05:33Z [Term] id: HP:0009183 name: Joint contracture of the 5th finger alt_id: HP:0001184 def: "Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0009-0006-4530-3154] synonym: "5th finger camptodactyly" RELATED [] synonym: "Fifth finger camptodactyly" RELATED [] xref: UMLS:C1865702 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0012785 ! Flexion contracture of finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T04:11:30Z [Term] id: HP:0009184 name: Contracture of the distal interphalangeal joint of the 5th finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024551 is_a: HP:0009183 ! Joint contracture of the 5th finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T04:16:15Z [Term] id: HP:0009185 name: Contracture of the proximal interphalangeal joint of the 5th finger alt_id: HP:0005047 alt_id: HP:0006062 def: "Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [https://orcid.org/0000-0002-0736-9199] synonym: "Camptodactyly of 5th finger" EXACT [] synonym: "Camptodactyly of the fifth finger" EXACT [] xref: UMLS:C3554612 is_a: HP:0009183 ! Joint contracture of the 5th finger is_a: HP:0100490 ! Camptodactyly of finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T04:16:58Z [Term] id: HP:0009186 name: Contracture of the metacarpophalangeal joint of the 5th finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024550 is_a: HP:0009183 ! Joint contracture of the 5th finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-12-29T04:18:00Z [Term] id: HP:0009187 name: Bracket epiphysis of the distal phalanx of the 5th finger def: "An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket shaped end part of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket shaped end part of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024549 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T12:07:32Z [Term] id: HP:0009188 name: Pseudoepiphysis of the distal phalanx of the 5th finger def: "A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024548 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T12:28:19Z [Term] id: HP:0009189 name: Fragmentation of the metacarpal epiphyses def: "Fragmented appearance of the epiphyses of the metacarpals." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024547 is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009190 name: Irregular epiphyses of the metacarpals def: "Irregular radiographic opacity of the epiphyses of the metacarpals." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024546 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009191 name: Ivory epiphyses of the metacarpals def: "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the long bone of hands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024545 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology is_a: HP:0010583 ! Ivory epiphyses is_a: HP:0011001 ! Increased bone mineral density property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009192 name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024544 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:57:28Z [Term] id: HP:0009193 name: Metacarpal pseudoepiphysis alt_id: HP:0006091 alt_id: HP:0006164 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone." [https://orcid.org/0009-0006-4530-3154] synonym: "Accessory proximal metacarpal ossification centers" EXACT [] synonym: "Accessory proximal metacarpal ossification centres" EXACT uk_spelling [] synonym: "Metacarpal pseudoepiphyses" EXACT [] synonym: "Pseudoepiphyses of the metacarpals" EXACT [] xref: UMLS:C1860253 is_a: HP:0004288 ! Pseudoepiphyses of hand bones is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009194 name: Small epiphyses of the metacarpals def: "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024543 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology is_a: HP:0010585 ! Small epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009195 name: Epiphyseal stippling of the metacarpals def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the metacarpals" EXACT [] xref: UMLS:C4021514 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology is_a: HP:0010655 ! Epiphyseal stippling is_a: HP:0010660 ! Abnormal hand bone ossification property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009196 name: Absent metacarpal epiphyses alt_id: HP:0006013 def: "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent metacarpal ossification center" EXACT [] synonym: "Absent metacarpal ossification centre" EXACT uk_spelling [] xref: UMLS:C4021513 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology is_a: HP:0010577 ! Absent epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009197 name: Bracket epiphysis of the proximal phalanx of the 5th finger def: "An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the innermost bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket shaped end part of the innermost bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket shaped end part of the innermost bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024542 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:05:01Z [Term] id: HP:0009198 name: Abnormality of the epiphysis of the distal phalanx of the 5th finger alt_id: HP:0004228 def: "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of end part of the outermost bone of the little finger" EXACT layperson [] synonym: "Abnormality of end part of the outermost bone of the pinkie finger" EXACT layperson [] synonym: "Abnormality of end part of the outermost bone of the pinky finger" EXACT layperson [] synonym: "Abnormality of the epiphysis of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021512 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T04:41:32Z [Term] id: HP:0009199 name: Irregular epiphysis of the proximal phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular end part of the innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular end part of the innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024541 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:09:06Z [Term] id: HP:0009200 name: Pseudoepiphysis of the proximal phalanx of the 5th finger def: "A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024540 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:10:13Z [Term] id: HP:0009201 name: Stippling of the epiphysis of the proximal phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the innnermost bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the innnermost bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the innnermost bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024539 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:11:42Z [Term] id: HP:0009202 name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the innermost bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of end part of the innermost bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of end part of the innermost bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024538 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:13:41Z [Term] id: HP:0009203 name: Absent epiphysis of the middle phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024537 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009204 name: Bracket epiphysis of the middle phalanx of the 5th finger def: "An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket shaped end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket shaped end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024536 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009205 name: Cone-shaped epiphysis of the middle phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024535 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009206 name: Enlarged epiphysis of the middle phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024534 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009207 name: Fragmentation of the epiphysis of the middle phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024533 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009208 name: Irregular epiphysis of the middle phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024532 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009209 name: Ivory epiphysis of the middle phalanx of the 5th finger def: "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the middle bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density of end part of the middle bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density of end part of the middle bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024531 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009210 name: Pseudoepiphysis of the middle phalanx of the 5th finger def: "A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024530 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009211 name: Small epiphysis of the middle phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024529 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009212 name: Stippling of the epiphysis of the middle phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024528 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009213 name: Triangular epiphysis of the middle phalanx of the 5th finger def: "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the middle phalanx of the 5th finger" EXACT [] synonym: "Triangular end part of the middle bone of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular end part of the middle bone of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular end part of the middle bone of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021511 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009214 name: Absent epiphysis of the middle phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024527 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009215 name: Bracket epiphysis of the middle phalanx of the 4th finger def: "An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024526 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009216 name: Cone-shaped epiphysis of the middle phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024525 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009217 name: Enlarged epiphysis of the middle phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024524 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009218 name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024523 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009219 name: Irregular epiphysis of the middle phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024522 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009220 name: Ivory epiphysis of the middle phalanx of the 4th finger def: "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the middle ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024521 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009221 name: Pseudoepiphysis of the middle phalanx of the 4th finger def: "A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024520 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009222 name: Small epiphysis of the middle phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024519 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009223 name: Stippling of the epiphysis of the middle phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024518 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009224 name: Triangular epiphysis of the middle phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the middle phalanx of the 4th finger" EXACT [] synonym: "Triangular end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021510 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009225 name: Aplasia of the proximal phalanx of the 5th finger def: "Absence of the proximal phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024517 is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:00:33Z [Term] id: HP:0009226 name: Short proximal phalanx of the 5th finger def: "Hypoplastic/small proximal phalanx of the fifth finger." [https://orcid.org/0000-0002-5316-1399] synonym: "Hypoplastic/small proximal phalanx of the 5th finger" EXACT [] synonym: "Short innermost little finger bone" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Short innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short proximal phalanx of the fifth finger" EXACT layperson [] xref: UMLS:C4021509 is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009237 ! Short 5th finger is_a: HP:0010241 ! Short proximal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:01:34Z [Term] id: HP:0009227 name: Broad proximal phalanx of the 5th finger def: "Increased width of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide proximal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021508 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009852 ! Broad proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009228 name: Bullet-shaped proximal phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024516 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009229 name: Curved proximal phalanx of the 5th finger def: "Curved appearance of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024515 is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009854 ! Curved proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009230 name: Osteolytic defects of the proximal phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024514 is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009231 name: Patchy sclerosis of the proximal phalanx of the 5th finger def: "Patchy increase in bone density of the proximal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in the innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in the innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024513 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100911 ! Sclerosis of the proximal phalanx of the 5th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009232 name: Symphalangism affecting the proximal phalanx of the 5th finger def: "Fusion of the proximal phalanx of the 5th finger with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024512 is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009233 name: Triangular shaped proximal phalanx of the 5th finger def: "Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [PMID:24432108] synonym: "Triangular shaped innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024511 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009234 name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal def: "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost bone of little finger with 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused innermost bone of pinkie finger with 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused innermost bone of pinky finger with 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024510 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger is_a: HP:0009708 ! Synostosis involving the 5th metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:19:01Z [Term] id: HP:0009236 name: Rhomboid or triangular shaped 5th finger proximal phalanx def: "Rhomboid or triangular shaped 5th (little) finger proximal phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Rhomboid or triangular shaped innermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Rhomboid or triangular shaped innermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Rhomboid or triangular shaped innermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024509 is_a: HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:20:38Z [Term] id: HP:0009237 name: Short 5th finger alt_id: HP:0001205 alt_id: HP:0004208 alt_id: HP:0004210 alt_id: HP:0004211 alt_id: HP:0004215 alt_id: HP:0004217 alt_id: HP:0005804 alt_id: HP:0005888 def: "Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Fifth finger brachydactyly" EXACT [] synonym: "Hypoplastic phalanges of the little finger" EXACT [] synonym: "Hypoplastic/small 5th finger" EXACT [] synonym: "Hypoplastic/small little finger" EXACT [] synonym: "Short 5th finger" EXACT layperson [] synonym: "Short fifth finger" EXACT layperson [] synonym: "Short fifth fingers" EXACT layperson [] synonym: "Short little finger" EXACT layperson [] synonym: "Short phalanges of the little finger" EXACT [] synonym: "Short pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1842878 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009381 ! Short finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T06:54:07Z [Term] id: HP:0009238 name: Aplasia of the 5th finger def: "Absent 5th (little) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024508 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009380 ! Finger aplasia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:02:48Z [Term] id: HP:0009239 name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger synonym: "Absent/small outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024507 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009240 name: Broad distal phalanx of the 5th finger def: "Increased width of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024506 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009836 ! Broad distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009241 name: Bullet-shaped distal phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024505 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009242 name: Osteolytic defects of the distal phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024504 is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009243 name: Patchy sclerosis of the distal phalanx of the 5th finger def: "Patchy increase in bone density of the distal phalanx of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the outermost bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in the outermost bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in the outermost bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024503 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100903 ! Sclerosis of the distal phalanx of the 5th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009244 name: Distal/middle symphalangism of 5th finger alt_id: HP:0006250 alt_id: HP:0009176 def: "Fusion of the terminal/distal and middle phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fifth finger distal interphalangeal joint symphalangism" EXACT [] synonym: "Fused end and middle bones of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused end and middle bones of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused end and middle bones of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fusion of the terminal and middle phalanges of the 5th finger" RELATED layperson [] synonym: "Symphalangism of the distal and middle phalanges of the 5th finger" EXACT [] synonym: "Symphalangism of the terminal and middle phalanges of the 5th finger" EXACT [] xref: UMLS:C1868573 xref: UMLS:C4020781 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009245 name: Triangular shaped distal phalanx of the 5th finger def: "Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024502 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009246 name: Aplasia of the distal phalanx of the 5th finger def: "Absence of the distal phalanx of the little (5th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024501 is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-05T07:27:52Z [Term] id: HP:0009247 name: Abnormality of the epiphysis of the middle phalanx of the 4th finger synonym: "Abnormality of the end part of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024500 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T11:29:14Z [Term] id: HP:0009248 name: Abnormality of the epiphysis of the proximal phalanx of the 4th finger synonym: "Abnormality of the end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024499 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009249 name: Abnormality of the epiphysis of the distal phalanx of the 4th finger synonym: "Abnormality of the end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024498 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009250 name: Absent epiphysis of the distal phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024497 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009251 name: Bracket epiphysis of the distal phalanx of the 4th finger def: "An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024496 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009252 name: Cone-shaped epiphysis of the distal phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024495 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009253 name: Enlarged epiphysis of the distal phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024494 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009254 name: Fragmentation of the epiphysis of the distal phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024493 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009255 name: Irregular epiphysis of the distal phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024492 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009256 name: Ivory epiphysis of the distal phalanx of the 4th finger def: "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the outermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024491 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009257 name: Pseudoepiphysis of the distal phalanx of the 4th finger def: "A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024490 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009258 name: Small epiphysis of the distal phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024489 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009259 name: Stippling of the epiphysis of the distal phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in the end part of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024488 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009260 name: Triangular epiphysis of the distal phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the distal phalanx of the 4th finger" EXACT [] synonym: "Triangular end part of the outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021507 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009261 name: Absent epiphysis of the proximal phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024487 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009262 name: Bracket epiphysis of the proximal phalanx of the 4th finger alt_id: HP:0004200 def: "An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket proximal epiphysis of the ring finger" EXACT [] synonym: "Bracket shaped end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021506 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009263 name: Cone-shaped epiphysis of the proximal phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024486 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009264 name: Enlarged epiphysis of the proximal phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024485 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009265 name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024484 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009266 name: Irregular epiphysis of the proximal phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024483 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009267 name: Ivory epiphysis of the proximal phalanx of the 4th finger def: "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024482 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009268 name: Pseudoepiphysis of the proximal phalanx of the 4th finger def: "A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024481 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009269 name: Small epiphysis of the proximal phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024480 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009270 name: Stippling of the epiphysis of the proximal phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the innermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024479 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009271 name: Triangular epiphysis of the proximal phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 4th finger" EXACT [] synonym: "Triangular end part of the innermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021505 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009272 name: Aplasia/Hypoplasia of the 4th finger def: "A small/hypoplastic or absent/aplastic 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024478 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:01:26Z [Term] id: HP:0009273 name: Deviation of the 4th finger def: "Displacement of the 4th finger from its normal position." [https://orcid.org/0000-0002-0736-9199] synonym: "Deviation of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024477 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004188 ! Abnormal 4th finger morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:03:23Z [Term] id: HP:0009274 name: Joint contracture of the 4th finger alt_id: HP:0004189 def: "Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint contractures of the fourth finger" EXACT [] xref: UMLS:C4021504 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0012785 ! Flexion contracture of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:04:54Z [Term] id: HP:0009275 name: Contracture of the distal interphalangeal joint of the 4th finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024476 is_a: HP:0009274 ! Joint contracture of the 4th finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009276 name: Contracture of the proximal interphalangeal joint of the 4th finger alt_id: HP:0005845 def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [https://orcid.org/0000-0002-0736-9199] synonym: "4th finger camptodactyly" EXACT [] synonym: "Camptodactyly of the 4th finger" EXACT [] synonym: "Camptodactyly of the ring finger" EXACT [] xref: UMLS:C4021503 is_a: HP:0009274 ! Joint contracture of the 4th finger is_a: HP:0100490 ! Camptodactyly of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009277 name: Contracture of the metacarpophalangeal joint of the 4th finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024475 is_a: HP:0009274 ! Joint contracture of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009278 name: Ulnar deviation of the 4th finger def: "Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger)." [https://orcid.org/0009-0006-4530-3154] synonym: "Ulnar deviation of the ring finger" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024474 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009465 ! Ulnar deviation of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009279 name: Radial deviation of the 4th finger def: "Displacement of the 4th finger towards the radial side (i.e., towards the thumb)." [https://orcid.org/0009-0006-4530-3154] synonym: "Radial deviation of the ring finger" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024473 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009466 ! Radial deviation of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009280 name: Short 4th finger alt_id: HP:0004190 alt_id: HP:0006211 def: "Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic/small 4th finger" EXACT [] synonym: "Short ring finger" EXACT layperson [] xref: UMLS:C4021502 is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009381 ! Short finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009281 name: Aplasia of the 4th finger def: "Absent 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024472 is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009380 ! Finger aplasia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009282 name: Abnormality of the distal phalanx of the 4th finger synonym: "Abnormality of the outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024471 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009283 name: Abnormality of the middle phalanx of the 4th finger alt_id: HP:0004204 synonym: "Abnormal middle bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the middle phalanx of the ring finger" EXACT layperson [] xref: UMLS:C4021501 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009284 name: Abnormality of the proximal phalanx of the 4th finger alt_id: HP:0004199 synonym: "Abnormal innermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanx of the ring finger" EXACT layperson [] xref: UMLS:C4021500 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009285 name: Curved phalanges of the 4th finger def: "Curved appearance of the phalanges of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024470 is_a: HP:0004095 ! Curved fingers is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009770 ! Curved phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T03:44:14Z [Term] id: HP:0009286 name: Curved distal phalanx of the 4th finger def: "Curved appearance of the distal phalanx of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved outermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024469 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009838 ! Curved distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009287 name: Curved middle phalanx of the 4th finger def: "Curved appearance of the middle phalanx of the 4th (ring) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved middle ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024468 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009846 ! Curved middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009288 name: Curved proximal phalanx of the 4th finger synonym: "Curved innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024467 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009854 ! Curved proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009289 name: Aplasia/Hypoplasia of the distal phalanx of the 4th finger synonym: "Absent/small outermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024466 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T03:59:04Z [Term] id: HP:0009290 name: Short distal phalanx of the 4th finger def: "Hypoplastic/small distal phalanx of the fourth finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic/small distal phalanx of the 4th finger" EXACT [] synonym: "Short distal phalanx of the fourth finger" EXACT [] synonym: "Short outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021499 is_a: HP:0009280 ! Short 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger is_a: HP:0009882 ! Short distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T03:59:28Z [Term] id: HP:0009291 name: Aplasia of the distal phalanx of the 4th finger def: "Absence of the distal phalanx of the ring (4th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024465 is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:00:27Z [Term] id: HP:0009292 name: Broad distal phalanx of the 4th finger def: "Increased width of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024464 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009836 ! Broad distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009293 name: Broad middle phalanx of the 4th finger def: "Increased width of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad middle bone of the 4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024463 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009844 ! Broad middle phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009294 name: Absent middle phalanx of 4th finger def: "Absence of the middle phalanx of the ring (4th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent middle bone of 4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the middle phalanx of the 4th finger" EXACT [] xref: UMLS:C4021498 is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009295 name: Short middle phalanx of the 4th finger alt_id: HP:0004205 alt_id: HP:0004206 def: "Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Brachymesophalangy IV (finger)" EXACT [] synonym: "Hypoplastic/small middle phalanx of ring finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 4th finger" EXACT [] synonym: "Short middle bone of 4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short middle phalanx of ring finger" EXACT [] xref: UMLS:C4021497 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009280 ! Short 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009296 name: Bullet-shaped middle phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped middle bone of the 4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024462 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009297 name: Osteolytic defects of the middle phalanx of the 4th finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024461 is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009298 name: Aplasia of the proximal phalanx of the 4th finger def: "Absence of the proximal phalanx of the ring (4th) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024460 is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:22:16Z [Term] id: HP:0009299 name: Aplasia/Hypoplasia of the middle phalanx of the 4th finger synonym: "Absent/small middle ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024459 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:27:22Z [Term] id: HP:0009300 name: Aplasia/Hypoplasia of the proximal phalanx of the 4th finger alt_id: HP:0004203 synonym: "Absent/small innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4020658 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:28:54Z [Term] id: HP:0009301 name: Short proximal phalanx of the 4th finger def: "Hypoplastic/small proximal phalanx of the fourth finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic/small proximal phalanx of the 4th finger" EXACT [] synonym: "Short innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Short proximal phalanx of the fourth finger" EXACT [] xref: UMLS:C4021496 is_a: HP:0009280 ! Short 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger is_a: HP:0010241 ! Short proximal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:29:38Z [Term] id: HP:0009302 name: Bullet-shaped distal phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped outermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024458 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009303 name: Osteolytic defects of the distal phalanx of the 4th finger def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024457 is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009304 name: Patchy sclerosis of the distal phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024456 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100902 ! Sclerosis of the distal phalanx of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009305 name: Distal/middle symphalangism of 4th finger alt_id: HP:0009474 alt_id: HP:0009475 def: "Fusion of the terminal/distal and middle phalanges of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused outermost and middle bones of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 4th finger" EXACT [] xref: UMLS:C4021495 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009306 name: Triangular shaped distal phalanx of the 4th finger def: "Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024455 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009307 name: Patchy sclerosis of the middle phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024454 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100906 ! Sclerosis of the middle phalanx of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009308 name: Symphalangism of middle phalanx of 4th finger def: "Fusion of the middle phalanx of the 4th finger with another bone." [https://orcid.org/0009-0006-4530-3154] synonym: "Fused middle bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024453 is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009309 name: Triangular shaped middle phalanx of the 4th finger def: "Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024452 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009310 name: Broad proximal phalanx of the 4th finger alt_id: HP:0004201 def: "Increased width of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4020660 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009852 ! Broad proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009311 name: Bullet-shaped proximal phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024451 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009312 name: Osteolytic defects of the proximal phalanx of the 4th finger alt_id: HP:0004202 def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024450 is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009313 name: Patchy sclerosis of the proximal phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024449 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100910 ! Sclerosis of the proximal phalanx of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009314 name: Symphalangism affecting the proximal phalanx of the 4th finger def: "Fusion of the proximal phalanx of the 4th finger with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024448 is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009315 name: Triangular shaped proximal phalanx of the 4th finger def: "Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped innermost bone of the 4th finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Triangular shaped innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024447 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009316 name: Abnormal 3rd finger phalanx morphology alt_id: HP:0004155 def: "Abnormality of the phalanges of the 3rd (middle) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of 3rd finger phalanges" EXACT [] synonym: "Abnormality of middle finger phalanges" EXACT [] synonym: "Abnormality of the middle finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of the phalanges of the 3rd finger" EXACT [] xref: UMLS:C4021494 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:00:24Z [Term] id: HP:0009317 name: Deviation of the 3rd finger alt_id: HP:0004152 def: "Displacement of the 3rd finger from its normal position." [https://orcid.org/0000-0002-0736-9199] synonym: "Deviated middle finger" EXACT layperson [] xref: UMLS:C4021493 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004150 ! Abnormal 3rd finger morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:02:27Z [Term] id: HP:0009318 name: Aplasia/Hypoplasia of the 3rd finger def: "A small/hypoplastic or absent/aplastic 3rd (middle) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024446 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:04:08Z [Term] id: HP:0009319 name: Joint contracture of the 3rd finger alt_id: HP:0004151 def: "Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Camptodactyly of middle finger" EXACT [] xref: UMLS:C4021492 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0012785 ! Flexion contracture of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:05:43Z [Term] id: HP:0009320 name: Abnormality of the epiphyses of the 3rd finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024445 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:07:00Z [Term] id: HP:0009321 name: Absent epiphysis of the middle phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024444 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009322 name: Bracket epiphysis of the middle phalanx of the 3rd finger def: "An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024443 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009323 name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024442 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009324 name: Enlarged epiphysis of the middle phalanx of the 3rd finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024441 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009325 name: Fragmentation of the epiphysis of the middle phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024440 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009326 name: Irregular epiphysis of the middle phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024439 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009327 name: Ivory epiphysis of the middle phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024438 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009328 name: Pseudoepiphysis of the middle phalanx of the 3rd finger alt_id: HP:0004176 def: "A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Pseudoepiphyses of middle phalanx of middle-finger" EXACT [] xref: UMLS:C4021491 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009329 name: Small epiphysis of the middle phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024437 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009330 name: Stippling of the epiphysis of the middle phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024436 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009331 name: Triangular epiphysis of the middle phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the middle phalanx of the 3rd finger" EXACT [] synonym: "Triangular end part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021490 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009332 name: Abnormality of the epiphysis of the distal phalanx of the 3rd finger synonym: "Abnormality of the end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024435 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:16:06Z [Term] id: HP:0009333 name: Abnormality of the epiphysis of the proximal phalanx of the 3rd finger synonym: "Abnormality of the end part of the innermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024434 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009334 name: Abnormality of the epiphysis of the middle phalanx of the 3rd finger synonym: "Abnormality of the middle part of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024433 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009335 name: Absent epiphysis of the distal phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024432 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009336 name: Bracket epiphysis of the distal phalanx of the 3rd finger def: "An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024431 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009337 name: Cone-shaped epiphysis of the distal phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024430 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009338 name: Enlarged epiphysis of the distal phalanx of the 3rd finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024429 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009339 name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024428 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009340 name: Irregular epiphysis of the distal phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the outermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024427 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009341 name: Ivory epiphysis of the distal phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the outermost middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024426 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009342 name: Pseudoepiphysis of the distal phalanx of the 3rd finger def: "A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Pseudoepiphysis of the outermost bone of the middle finger" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024425 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009343 name: Small epiphysis of the distal phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the outermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024424 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009344 name: Stippling of the epiphysis of the distal phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the outermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024423 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009345 name: Triangular epiphysis of the distal phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the distal phalanx of the 3rd finger" EXACT [] synonym: "Triangular end part of the outermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021489 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009346 name: Absent epiphysis of the proximal phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024422 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009347 name: Bracket epiphysis of the proximal phalanx of the 3rd finger def: "An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024421 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009348 name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the innermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024420 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009349 name: Enlarged epiphysis of the proximal phalanx of the 3rd finger alt_id: HP:0004171 def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Large epiphysis of proximal middle-finger phalanx" EXACT [] xref: UMLS:C4021488 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009350 name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024419 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009351 name: Irregular epiphysis of the proximal phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024418 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009352 name: Ivory epiphysis of the proximal phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the innermost middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024417 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009353 name: Pseudoepiphysis of the proximal phalanx of the 3rd finger def: "A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024416 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009354 name: Small epiphysis of the proximal phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024415 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009355 name: Stippling of the epiphysis of the proximal phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024414 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009356 name: Triangular epiphysis of the proximal phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger" EXACT [] synonym: "Triangular end part of innermost long bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021487 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009357 name: Abnormality of the distal phalanx of the 3rd finger alt_id: HP:0004179 synonym: "Abnormality of terminal phalanx of middle-finger" EXACT [] synonym: "Abnormality of the outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021486 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:40:58Z [Term] id: HP:0009358 name: Abnormality of the proximal phalanx of the 3rd finger alt_id: HP:0004167 synonym: "Abnormal innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of proximal middle-finger phalanx" EXACT [] xref: UMLS:C4021485 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-12T11:42:37Z [Term] id: HP:0009370 name: Type A brachydactyly xref: UMLS:C4024413 is_a: HP:0001156 ! Brachydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009371 name: Type A1 brachydactyly xref: SNOMEDCT_US:715720006 xref: UMLS:C1862151 is_a: HP:0009370 ! Type A brachydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009372 name: Type A2 brachydactyly synonym: "Short index fingers and second toes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1832702 is_a: HP:0009370 ! Type A brachydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009373 name: Type C brachydactyly xref: UMLS:C1862103 is_a: HP:0001156 ! Brachydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009374 name: Broad phalanges of the 5th finger def: "Increased width of the phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024412 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009768 ! Broad phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T10:55:04Z [Term] id: HP:0009375 name: Bullet-shaped phalanges of the 5th finger def: "A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped little finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Bullet-shaped pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Bullet-shaped pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024411 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009769 ! Bullet-shaped phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T10:58:05Z [Term] id: HP:0009376 name: Aplasia/Hypoplasia of the phalanges of the 5th finger def: "Aplasia/Hypoplasia of the phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024410 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T11:58:25Z [Term] id: HP:0009377 name: Patchy sclerosis of 5th finger phalanx def: "Uneven increase in bone density of one or more of the phalanges of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the 5th finger" EXACT [] synonym: "Uneven increase in bone density in little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021484 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T12:00:02Z [Term] id: HP:0009378 name: Triangular shaped phalanges of the 5th finger def: "Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024409 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009774 ! Triangular shaped phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T12:00:35Z [Term] id: HP:0009379 name: Rhomboid or triangular shaped 5th finger distal phalanx def: "Rhomboid or triangular shaped 5th (little) finger distal phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Rhomboid or triangular shaped little finger bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Rhomboid or triangular shaped pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Rhomboid or triangular shaped pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024408 is_a: HP:0009245 ! Triangular shaped distal phalanx of the 5th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:01:44Z [Term] id: HP:0009380 name: Finger aplasia alt_id: HP:0001180 alt_id: HP:0004093 def: "A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers)." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent fingers" EXACT layperson [] synonym: "Aplasia of the fingers" EXACT [] synonym: "Hand has less than 5 fingers" EXACT layperson [] synonym: "Hand oligodactyly" EXACT [] xref: SNOMEDCT_US:71358006 xref: UMLS:C0728895 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:05:32Z [Term] id: HP:0009381 name: Short finger alt_id: HP:0004098 alt_id: HP:0006015 def: "Abnormally short finger associated with developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic digits" EXACT [] synonym: "Hypoplastic fingers" EXACT [] synonym: "Hypoplastic/small fingers" EXACT [] synonym: "Short finger" EXACT layperson [] synonym: "Stubby finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stubby fingers" EXACT plural_form [] xref: SNOMEDCT_US:249765007 xref: UMLS:C0239594 xref: UMLS:C1844548 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers is_a: HP:0011927 ! Short digit property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:07:38Z [Term] id: HP:0009382 name: Absent epiphyses of the 5th finger def: "Absence of one or more epiphyses of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024407 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009383 name: Bracket epiphyses of the 5th finger def: "An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108] synonym: "Bracket shaped end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket shaped end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket shaped end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024406 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009384 name: Cone-shaped epiphyses of the 5th finger def: "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped end part of the pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped end part of the pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024405 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009385 name: Enlarged epiphyses of the 5th finger def: "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged end part of the pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged end part of the pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024404 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009386 name: Fragmentation of the epiphyses of the 5th finger def: "Fragmented appearance of the epiphyses of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of the end part of the little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of the end part of the pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of the end part of the pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024403 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009387 name: Irregular epiphyses of the 5th finger def: "Irregular radiographic opacity of the epiphyses of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the little finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular end part of the pinkie finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular end part of the pinky finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024402 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009388 name: Ivory epiphyses of the 5th finger def: "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density of end part of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased bone density of end part of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024401 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100921 ! Sclerosis of 5th finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009389 name: Pseudoepiphyses of the 5th finger def: "A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024400 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009390 name: Small epiphyses of the 5th finger def: "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024399 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009391 name: Stippling of the epiphyses of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Speckled calcifications in end part of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Speckled calcifications in end part of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024398 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009392 name: Triangular epiphyses of the 5th finger def: "A triangular appearance of the epiphyses of the 5th finger of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphyses of the 5th finger" EXACT [] synonym: "Triangular end part of the little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular end part of the pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular end part of the pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021483 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009393 name: Absent epiphyses of the 4th finger def: "Absence of one or more epiphyses of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024397 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009394 name: Bracket epiphyses of the 4th finger alt_id: HP:0004192 def: "An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108] synonym: "Bracket shaped end part of ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024396 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009395 name: Cone-shaped epiphyses of the 4th finger def: "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024395 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009396 name: Enlarged epiphyses of the 4th finger def: "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024394 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009397 name: Fragmentation of the epiphyses of the 4th finger def: "Fragmented appearance of the epiphyses of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of the end part of the ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024393 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009398 name: Irregular epiphyses of the 4th finger def: "Irregular radiographic opacity of the epiphyses of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024392 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009399 name: Ivory epiphyses of the 4th finger def: "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024391 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100920 ! Sclerosis of 4th finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009400 name: Pseudoepiphyses of the 4th finger def: "A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024390 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009401 name: Small epiphyses of the 4th finger def: "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024389 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009402 name: Stippling of the epiphyses of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024388 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009403 name: Triangular epiphyses of the 4th finger def: "A triangular appearance of the epiphyses of the 4th finger of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphyses of the 4th finger" EXACT [] synonym: "Triangular end part of ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021482 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009404 name: Broad phalanges of the 4th finger def: "Increased width of the phalanges of the 4th finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad bones of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024387 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009768 ! Broad phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009405 name: Bullet-shaped phalanges of the 4th finger def: "A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped of bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024386 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009769 ! Bullet-shaped phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009406 name: Patchy sclerosis of 4th finger phalanx def: "Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the 4th finger" EXACT [] synonym: "Uneven increase in bone density in ring finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021481 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009407 name: Triangular shaped phalanges of the 4th finger def: "Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped bone of ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024385 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009774 ! Triangular shaped phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009408 name: Aplasia/Hypoplasia of the phalanges of the 4th finger synonym: "Absent/small ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped ring finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024384 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009410 name: Absent epiphyses of the 3rd finger def: "Absence of the epiphyses of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024383 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009411 name: Bracket epiphyses of the 3rd finger def: "An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108] synonym: "Bracket shaped end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024382 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009412 name: Cone-shaped epiphyses of the 3rd finger def: "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024381 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009413 name: Enlarged epiphyses of the 3rd finger def: "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024380 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009414 name: Fragmentation of the epiphyses of the 3rd finger def: "Fragmented appearance of the epiphyses of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024379 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009415 name: Irregular epiphyses of the 3rd finger def: "Irregular radiographic opacity of the epiphyses of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024378 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009416 name: Ivory epiphyses of the 3rd finger def: "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024377 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009417 name: Pseudoepiphyses of the 3rd finger alt_id: HP:0004163 def: "A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Pseudoepiphyses of middle finger phalanges" EXACT [] xref: UMLS:C4021480 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009418 name: Small epiphyses of the 3rd finger def: "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024376 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009419 name: Stippling of the epiphyses of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024375 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009420 name: Triangular epiphyses of the 3rd finger def: "A triangular appearance of the epiphyses of the 3rd finger of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphyses of the 3rd finger" EXACT [] synonym: "Triangular end part of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021479 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009421 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger synonym: "Absent/small outermost middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024374 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009422 name: Broad distal phalanx of the 3rd finger def: "Increased width of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad outermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024373 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009836 ! Broad distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009423 name: Bullet-shaped distal phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024372 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009424 name: Osteolytic defects of the distal phalanx of the 3rd finger alt_id: HP:0004181 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Lytic defect of terminal phalanx of middle finger" EXACT [] xref: UMLS:C4021478 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009425 name: Patchy sclerosis of the distal phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the third finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024371 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100901 ! Sclerosis of the distal phalanx of the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009426 name: Distal/middle symphalangism of 3rd finger alt_id: HP:0009479 alt_id: HP:0009480 def: "Fusion of the terminal/distal and middle phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused outermost and middle bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 3rd finger" EXACT [] xref: UMLS:C4021477 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009427 name: Triangular shaped distal phalanx of the 3rd finger def: "Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024370 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009428 name: Curved distal phalanx of the 3rd finger def: "Curved appearance of the distal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024369 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009838 ! Curved distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009429 name: Aplasia of the distal phalanx of the 3rd finger def: "Absence of the distal phalanx of the middle (3rd) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024368 is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:18:42Z [Term] id: HP:0009430 name: Broad middle phalanx of the 3rd finger alt_id: HP:0004178 def: "Increased width of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide/broad middle phalanx of middle-finger" EXACT [] xref: UMLS:C4021476 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009844 ! Broad middle phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009431 name: Bullet-shaped middle phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024367 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009432 name: Curved middle phalanx of the 3rd finger def: "Curved appearance of the middle phalanx of the 3rd (middle) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024366 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009846 ! Curved middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009433 name: Osteolytic defects of the middle phalanx of the 3rd finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024365 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009434 name: Patchy sclerosis of the middle phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the third finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024364 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100905 ! Sclerosis of the middle phalanx of the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009435 name: Symphalangism of middle phalanx of 3rd finger def: "Fusion of the middle phalanx of the 3rd finger with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024363 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009436 name: Triangular shaped middle phalanx of the 3rd finger def: "Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024362 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009437 name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger synonym: "Absent/small middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024361 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009438 name: Absent middle phalanx of 3rd finger alt_id: HP:0004173 def: "Absence of the middle phalanx of the middle (3rd) finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Absent middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent middle phalanx of middle finger" EXACT [] synonym: "Aplasia of the middle phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021475 is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009439 name: Short middle phalanx of the 3rd finger alt_id: HP:0004177 alt_id: HP:0006212 def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Brachymesophalangy III (finger)" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 3rd finger" EXACT [] synonym: "Short middle bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021474 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009440 name: Broad phalanges of the 3rd finger alt_id: HP:0004166 def: "Increased width of the phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide/broad middle finger phalanges" EXACT [] xref: UMLS:C4021473 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009768 ! Broad phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009441 name: Bullet-shaped phalanges of the 3rd finger def: "A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024360 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009769 ! Bullet-shaped phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009442 name: Curved phalanges of the 3rd finger def: "Curved appearance of the phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024359 is_a: HP:0004095 ! Curved fingers is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009770 ! Curved phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009443 name: Osteolytic defects of the phalanges of the 3rd finger alt_id: HP:0004159 def: "Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Lytic defects of middle finger phalanges" EXACT [] xref: UMLS:C4021472 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009444 name: Patchy sclerosis of 3rd finger phalanx alt_id: HP:0004160 def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of middle finger phalanges" EXACT [] synonym: "Patchy sclerosis of the phalanges of the 3rd finger" EXACT [] synonym: "Uneven increase in bone density in middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021471 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009445 name: Symphalangism of the 3rd finger def: "Fusion of two or more bones of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024358 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009446 name: Triangular shaped phalanges of the 3rd finger def: "Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024357 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009774 ! Triangular shaped phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009447 name: Aplasia/Hypoplasia of the phalanges of the 3rd finger alt_id: HP:0004156 alt_id: HP:0004158 alt_id: HP:0004164 alt_id: HP:0004165 alt_id: HP:0009449 synonym: "Absent/small middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic middle finger phalanges" EXACT [] synonym: "Short middle finger phalanges" EXACT [] synonym: "Small middle finger phalanges" EXACT [] xref: UMLS:C4024356 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009448 name: obsolete Aplasia of the phalanges of the 3rd finger is_obsolete: true consider: HP:0009447 [Term] id: HP:0009449 name: obsolete Hypoplastic/small phalanges of the 3rd finger is_obsolete: true replaced_by: HP:0009447 [Term] id: HP:0009450 name: Broad proximal phalanx of the 3rd finger def: "Increased width of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024355 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009852 ! Broad proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009451 name: Bullet-shaped proximal phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024354 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009452 name: Curved proximal phalanx of the 3rd finger def: "Curved appearance of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024353 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009854 ! Curved proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009453 name: Osteolytic defects of the proximal phalanx of the 3rd finger def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024352 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009454 name: Patchy sclerosis of the proximal phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the third finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the innermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024351 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100909 ! Sclerosis of the proximal phalanx of the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009455 name: Symphalangism affecting the proximal phalanx of the 3rd finger def: "Fusion of the proximal phalanx of the 3rd finger with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024350 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009456 name: Triangular shaped proximal phalanx of the 3rd finger def: "Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024349 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009457 name: Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger synonym: "Absent/small innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024348 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:34:45Z [Term] id: HP:0009458 name: Aplasia of the proximal phalanx of the 3rd finger def: "Absence of the proximal phalanx of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024347 is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009459 name: Short proximal phalanx of the 3rd finger alt_id: HP:0004169 alt_id: HP:0004170 def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic/small proximal phalanx of the 3rd finger" EXACT [] synonym: "Short innermost bone of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short proximal middle-finger phalanx" EXACT [] synonym: "Short proximal phalanx of the third finger" EXACT [] synonym: "Small proximal middle-finger phalanx" EXACT [] xref: UMLS:C4021470 is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger is_a: HP:0010241 ! Short proximal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009460 name: Aplasia of the 3rd finger def: "Absent 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024346 is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009380 ! Finger aplasia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:56:33Z [Term] id: HP:0009461 name: Short 3rd finger alt_id: HP:0004154 def: "Hypoplastic/small 3rd (middle) finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic/small 3rd finger" EXACT [] synonym: "Short 3rd finger" EXACT layperson [] synonym: "Short middle finger" EXACT layperson [] xref: UMLS:C4021469 is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009381 ! Short finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-14T04:57:43Z [Term] id: HP:0009462 name: Radial deviation of the 3rd finger def: "Displacement of the 3rd finger towards the radial side (i.e., towards the thumb)." [https://orcid.org/0009-0006-4530-3154] synonym: "Inward turned middle finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024345 is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009466 ! Radial deviation of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:35:10Z [Term] id: HP:0009463 name: Ulnar deviation of the 3rd finger alt_id: HP:0005865 alt_id: HP:0006022 def: "Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger)." [https://orcid.org/0009-0006-4530-3154] synonym: "Ulnar deviation of middle fingers" EXACT [] xref: UMLS:C3554614 is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009465 ! Ulnar deviation of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:35:47Z [Term] id: HP:0009464 name: Ulnar deviation of the 2nd finger alt_id: HP:0004102 alt_id: HP:0005811 def: "Displacement of the 2nd (index) finger towards the ulnar side." [https://orcid.org/0000-0002-0736-9199] synonym: "Medially deviated index finger" EXACT [] synonym: "Second finger ulnar deviation" EXACT [] synonym: "Ulnar angulation of the index finger" EXACT [] synonym: "Ulnar deviation of index fingers" EXACT [] xref: UMLS:C1844891 is_a: HP:0009465 ! Ulnar deviation of finger is_a: HP:0009468 ! Deviation of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:37:48Z [Term] id: HP:0009465 name: Ulnar deviation of finger alt_id: HP:0001200 alt_id: HP:0004096 def: "Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Finger bends toward pinky" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Ulnar Drift" EXACT [] xref: SNOMEDCT_US:276662009 xref: SNOMEDCT_US:367510009 xref: UMLS:C0231679 is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand is_a: HP:0004097 ! Deviation of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:39:43Z [Term] id: HP:0009466 name: Radial deviation of finger alt_id: HP:0001157 alt_id: HP:0001213 alt_id: HP:0001503 def: "Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Radially deviated fingers" EXACT [] synonym: "Radially deviated phalanges" EXACT [] xref: UMLS:C1836189 is_a: HP:0004097 ! Deviation of finger is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:40:27Z [Term] id: HP:0009467 name: Radial deviation of the 2nd finger alt_id: HP:0004103 alt_id: HP:0006053 def: "Displacement of the 2nd finger towards the radial side." [https://orcid.org/0000-0002-0736-9199] synonym: "Radially deviated index finger" EXACT [] xref: UMLS:C1844709 is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009468 ! Deviation of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:40:58Z [Term] id: HP:0009468 name: Deviation of the 2nd finger alt_id: HP:0004101 def: "Displacement of the 2nd finger from its normal position." [https://orcid.org/0000-0002-0736-9199] synonym: "Deviated index finger" EXACT [] synonym: "Displaced index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021468 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004100 ! Abnormal 2nd finger morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:42:36Z [Term] id: HP:0009469 name: Contracture of the distal interphalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Contracture of the outermost hinge joint of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4024344 is_a: HP:0009319 ! Joint contracture of the 3rd finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009470 name: Contracture of the metacarpophalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024343 is_a: HP:0009319 ! Joint contracture of the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009471 name: Contracture of the proximal interphalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Camptodactyly of the 3rd finger" EXACT [] synonym: "Camptodactyly of the third finger" EXACT [] xref: UMLS:C4021467 is_a: HP:0009319 ! Joint contracture of the 3rd finger is_a: HP:0100490 ! Camptodactyly of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009473 name: Joint contracture of the hand alt_id: HP:0001160 alt_id: HP:0001237 alt_id: HP:0004094 alt_id: HP:0005814 alt_id: HP:0006096 alt_id: HP:0006173 alt_id: HP:0006215 alt_id: HP:0006238 alt_id: HP:0006255 alt_id: HP:0009409 alt_id: HP:0009472 alt_id: HP:0010563 def: "Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Contractures involving the hands" EXACT [] synonym: "Contractures of the hands" EXACT [] xref: MEDDRA:10010821 "Contracture of hand joint" xref: SNOMEDCT_US:86414002 xref: UMLS:C0158113 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009810 ! Abnormality of upper limb joint is_a: HP:0100360 ! Upper-limb joint contracture property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T09:59:59Z [Term] id: HP:0009477 name: Proximal/middle symphalangism of 4th finger alt_id: HP:0009476 def: "Fusion of the proximal and middle phalanges of the 4th finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Fused innermost and middle bone of fourth finger" EXACT layperson [] xref: UMLS:C4024342 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009478 name: Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal def: "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost bone of ring finger with 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024341 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger is_a: HP:0009707 ! Synostosis involving the 4th metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009482 name: Proximal/middle symphalangism of 3rd finger alt_id: HP:0009481 def: "Fusion of the proximal and middle phalanges of the 3rd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused of innermost and middle bones of middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024340 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:29:08Z [Term] id: HP:0009483 name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal def: "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost bones of middle finger with middle long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024339 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger is_a: HP:0009706 ! Synostosis involving the 3rd metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:29:08Z [Term] id: HP:0009484 name: Deviation of the hand or of fingers of the hand def: "Displacement of the hand or of fingers of the hand from their normal position." [https://orcid.org/0000-0002-0736-9199] synonym: "Displaced hand or fingers of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024338 is_a: HP:0005922 ! Abnormal hand morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:45:01Z [Term] id: HP:0009485 name: Radial deviation of the hand or of fingers of the hand xref: UMLS:C4024337 is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:49:51Z [Term] id: HP:0009486 name: Radial deviation of the hand alt_id: HP:0001203 def: "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Radial deviation of hands" EXACT [] xref: SNOMEDCT_US:299035006 xref: UMLS:C0575803 is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:51:21Z [Term] id: HP:0009487 name: Ulnar deviation of the hand def: "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Ulnar deviation of hands" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Ulnar deviation of the hands" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:249757009 xref: UMLS:C0241521 is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-15T10:51:52Z [Term] id: HP:0009488 name: Absent epiphyses of the 2nd finger def: "Absence of the epiphyses of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024336 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009489 name: Bracket epiphyses of the 2nd finger alt_id: HP:0004109 def: "An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108] synonym: "Bracket shaped end part of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bracket-epiphyses of index finger" EXACT [] xref: UMLS:C4021466 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009490 name: Cone-shaped epiphyses of the 2nd finger def: "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024335 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009491 name: Enlarged epiphyses of the 2nd finger def: "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024334 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009492 name: Fragmentation of the epiphyses of the 2nd finger def: "Fragmented appearance of the epiphyses of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024333 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009493 name: Irregular epiphyses of the 2nd finger def: "Irregular radiographic opacity of the epiphyses of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024332 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009494 name: Ivory epiphyses of the 2nd finger def: "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024331 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009495 name: Pseudoepiphysis of the 2nd finger alt_id: HP:0004107 alt_id: HP:0006142 def: "A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Accessory index finger epiphysis" EXACT [] xref: UMLS:C4021465 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009496 name: Small epiphyses of the 2nd finger def: "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024330 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009497 name: Stippling of the epiphyses of the 2nd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024329 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009498 name: Triangular epiphyses of the 2nd finger def: "A triangular appearance of the epiphyses of the 2nd finger of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular end part of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024328 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009499 name: Abnormality of the epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004146 synonym: "Abnormality of the end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Epiphyseal abnormality of terminal index finger phalanx" EXACT [] xref: UMLS:C4021464 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009500 name: Abnormality of the epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004135 synonym: "Abnormality of end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Epiphyseal abnormality of middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021463 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009501 name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004127 synonym: "Epiphyseal abnormality of the proximal phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021462 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009502 name: Absent epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004147 def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent ossification/absent epiphysis of terminal index finger phalanx" EXACT [] xref: UMLS:C4021461 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009503 name: Bracket epiphysis of the distal phalanx of the 2nd finger def: "An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024327 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009504 name: Cone-shaped epiphysis of the distal phalanx of the 2nd finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024326 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009505 name: Enlarged epiphysis of the distal phalanx of the 2nd finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024325 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009506 name: Fragmentation of the epiphysis of the distal phalanx of the 2nd finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024324 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009507 name: Irregular epiphysis of the distal phalanx of the 2nd finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024323 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009508 name: Ivory epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004148 def: "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ivory epiphysis of terminal index finger phalanx" EXACT [] xref: UMLS:C4021460 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009509 name: Pseudoepiphysis of the distal phalanx of the 2nd finger def: "A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024322 is_a: HP:0009495 ! Pseudoepiphysis of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009510 name: Small epiphysis of the distal phalanx of the 2nd finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024321 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009511 name: Stippling of the epiphysis of the distal phalanx of the 2nd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024320 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009512 name: Triangular epiphysis of the distal phalanx of the 2nd finger def: "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular end part of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024319 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009513 name: Absent epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004136 synonym: "Absent epiphyses of middle phalanx of index finger" EXACT [] synonym: "Missing end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021459 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009514 name: Bracket epiphysis of the middle phalanx of the 2nd finger def: "An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024318 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009515 name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004137 synonym: "Cone-shaped end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of middle phalanx of index finger" EXACT [] xref: UMLS:C4021458 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009516 name: Enlarged epiphysis of the middle phalanx of the 2nd finger synonym: "Enlarged end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024317 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009517 name: Fragmentation of the epiphysis of the middle phalanx of the 2nd finger synonym: "Fragmentation of end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024316 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009518 name: Irregular epiphysis of the middle phalanx of the 2nd finger synonym: "Irregular end part of the middle long bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024315 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009519 name: Ivory epiphysis of the middle phalanx of the 2nd finger synonym: "Increased bone density of end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024314 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009520 name: Pseudoepiphysis of the middle phalanx of the 2nd finger def: "A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024313 is_a: HP:0009495 ! Pseudoepiphysis of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009521 name: Small epiphysis of the middle phalanx of the 2nd finger synonym: "Small end part of the innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024312 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009522 name: Stippling of the epiphysis of the middle phalanx of the 2nd finger synonym: "Speckled calcifications in end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024311 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009523 name: Triangular epiphysis of the middle phalanx of the 2nd finger synonym: "Triangular end part of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024310 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009524 name: Absent epiphysis of the proximal phalanx of the 2nd finger synonym: "Absent end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024309 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009525 name: Bracket epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004120 def: "An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket epiphyses of proximal index finger phalanx" EXACT [] synonym: "Bracket shaped end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021457 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009526 name: Cone-shaped epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004128 synonym: "Cone-shaped end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021456 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009527 name: Enlarged epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004129 synonym: "Enlarged end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Large epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021455 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009528 name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger synonym: "Fragmentation of end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024308 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009529 name: Irregular epiphysis of the proximal phalanx of the 2nd finger synonym: "Irregular end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024307 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009530 name: Ivory epiphysis of the proximal phalanx of the 2nd finger synonym: "Increased bone density of end part of the innermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024306 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009531 name: Pseudoepiphysis of the proximal phalanx of the 2nd finger def: "A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024305 is_a: HP:0009495 ! Pseudoepiphysis of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009532 name: Small epiphysis of the proximal phalanx of the 2nd finger synonym: "Small end part of proximal long bond of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024304 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009533 name: Stippling of the epiphysis of the proximal phalanx of the 2nd finger synonym: "Speckled calcifications in end part of the innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024303 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009534 name: Triangular epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004130 synonym: "Triangular end part of innermost long bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021454 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009535 name: Aplasia of the 2nd finger alt_id: HP:0004106 def: "Absent 2nd (index) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent index finger phalanges" EXACT [] synonym: "Aplasia of the index finger" EXACT [] xref: UMLS:C4021453 is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009380 ! Finger aplasia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009536 name: Short 2nd finger alt_id: HP:0004104 alt_id: HP:0004113 alt_id: HP:0004115 alt_id: HP:0005796 def: "Hypoplasia of the second finger, also known as the index finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic index finger phalanges" EXACT [] synonym: "Hypoplastic/small index finger" EXACT [] synonym: "Short index finger" EXACT layperson [] synonym: "Short index finger phalanges" EXACT [] synonym: "Short index fingers" EXACT layperson [] xref: UMLS:C1862142 is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009381 ! Short finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009537 name: Flexion contracture of the 2nd finger def: "Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint contractures of the 2nd finger" EXACT [] xref: UMLS:C4021452 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0012785 ! Flexion contracture of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:10:27Z [Term] id: HP:0009538 name: Contracture of the distal interphalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024302 is_a: HP:0009537 ! Flexion contracture of the 2nd finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009539 name: Contracture of the metacarpophalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024301 is_a: HP:0009537 ! Flexion contracture of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009540 name: Contracture of the proximal interphalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Camptodactyly of 2nd finger" EXACT [] synonym: "Camptodactyly of index finger" EXACT [] synonym: "Camptodactyly of second finger" EXACT [] xref: UMLS:C4021451 is_a: HP:0009537 ! Flexion contracture of the 2nd finger is_a: HP:0100490 ! Camptodactyly of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009541 name: Abnormality of the phalanges of the 2nd finger alt_id: HP:0004105 def: "Abnormality of the phalanges of the 2nd (index) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of 2nd finger phalanges" EXACT [] xref: UMLS:C4021450 is_a: HP:0004100 ! Abnormal 2nd finger morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:15:07Z [Term] id: HP:0009542 name: Abnormality of the distal phalanx of the 2nd finger alt_id: HP:0004111 alt_id: HP:0004140 synonym: "Abnormality of terminal index finger phalanx" EXACT [] synonym: "Abnormality of the outermost bone of the 2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021449 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009543 name: Abnormality of the middle phalanx of the 2nd finger alt_id: HP:0004131 synonym: "Abnormal middle index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of middle 2nd finger phalanx" EXACT [] xref: UMLS:C4021448 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009544 name: Abnormality of the proximal phalanx of the 2nd finger alt_id: HP:0004119 synonym: "Abnormal innermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the proximal 2nd finger phalanx" EXACT [] xref: UMLS:C4021447 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009545 name: Symphalangism of the 2nd finger alt_id: HP:0004116 synonym: "Fused index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism of index finger phalanges" EXACT [] xref: UMLS:C4021446 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009546 name: Triangular shaped phalanges of the 2nd finger alt_id: HP:0004117 def: "Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular bones of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular index finger phalanges" EXACT [] xref: UMLS:C4021445 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009547 name: Broad phalanges of the 2nd finger alt_id: HP:0004118 synonym: "Wide index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide/broad index finger phalanges" EXACT [] xref: UMLS:C4021444 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009768 ! Broad phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009548 name: Bullet-shaped phalanges of the 2nd finger def: "A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024300 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009549 name: Curved phalanges of the 2nd finger synonym: "Curved index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024299 is_a: HP:0004095 ! Curved fingers is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009770 ! Curved phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009550 name: Osteolytic defects of the phalanges of the 2nd finger alt_id: HP:0004114 synonym: "Lytic defect in index finger phalanges" EXACT [] xref: UMLS:C4021443 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009551 name: Patchy sclerosis of 2nd finger phalanx def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the 2nd finger" EXACT [] synonym: "Uneven increase in bone density in index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021442 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009552 name: Aplasia/Hypoplasia of the phalanges of the 2nd finger synonym: "Absent/small index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024298 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009553 name: Abnormality of the hairline def: "The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the hairline" EXACT layperson [] xref: UMLS:C4024297 is_a: HP:0011361 ! Congenital abnormal hair pattern is_a: HP:0100037 ! Abnormality of the scalp hair property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-21T05:19:14Z [Term] id: HP:0009554 name: Preauricular hair displacement def: "An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones." [https://orcid.org/0000-0002-0736-9199] synonym: "Hair displacement, preauricular, towards lateral cheekbone" EXACT [] synonym: "Hair growing down to cheek" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Projection of scalp hair onto lateral cheek" EXACT layperson [] xref: UMLS:C4024296 is_a: HP:0009553 ! Abnormality of the hairline property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-21T05:21:54Z [Term] id: HP:0009555 name: Hypoplasia of the pharynx def: "Underdevelopment of the pharynx." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased diameter of pharynx" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of pharynx" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of pharynx" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of pharynx" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of pharynx" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic pharynx" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small pharynx" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of pharynx" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024295 xref: UMLS:C4280396 xref: UMLS:C4280397 xref: UMLS:C4280398 xref: UMLS:C4280399 xref: UMLS:C4280400 is_a: HP:0033151 ! Abnormal pharynx morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-21T05:24:16Z [Term] id: HP:0009556 name: Absent tibia def: "Absence of the tibia." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the tibia" EXACT [] xref: UMLS:C3276744 is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia is_a: HP:0009817 ! Aplasia involving bones of the lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-27T06:09:44Z [Term] id: HP:0009557 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd finger synonym: "Absent/small outermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024294 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009558 name: Broad distal phalanx of the 2nd finger def: "Increased width of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024293 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009836 ! Broad distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009559 name: Bullet-shaped distal phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024292 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009560 name: Curved distal phalanx of the 2nd finger def: "Curved appearance of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024291 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009838 ! Curved distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009561 name: Osteolytic defects of the distal phalanx of the 2nd finger alt_id: HP:0004108 alt_id: HP:0004142 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Acro-osteolysis of index finger" EXACT [] synonym: "Acro-osteolysis of terminal index finger phalanx" EXACT [] synonym: "Osteolytic defects of the outermost bone of the 2nd finger" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021441 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009562 name: Patchy sclerosis of the distal phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the outermost bone of the 2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024290 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100900 ! Sclerosis of the distal phalanx of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009563 name: Distal/middle symphalangism of 2nd finger alt_id: HP:0009567 alt_id: HP:0009578 def: "Fusion of the terminal/distal and middle phalanges of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused outermost and middle index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 2nd finger" EXACT [] xref: UMLS:C4021440 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009564 name: Triangular shaped distal phalanx of the 2nd finger def: "Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped outermost bone of the 2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024289 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009565 name: Aplasia of the distal phalanx of the 2nd finger alt_id: HP:0004141 alt_id: HP:0005748 synonym: "Absent outermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent terminal index finger phalanx" EXACT [] xref: UMLS:C4021439 is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:20:22Z [Term] id: HP:0009566 name: Short distal phalanx of the 2nd finger alt_id: HP:0004145 def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic terminal index finger phalanx" EXACT [] synonym: "Hypoplastic/small distal phalanx of the 2nd finger" EXACT [] synonym: "Short distal phalanx of the second finger" EXACT [] synonym: "Short outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short terminal index finger phalanx" EXACT [] xref: UMLS:C4021438 is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger is_a: HP:0009882 ! Short distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T04:20:22Z [Term] id: HP:0009568 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger alt_id: HP:0006221 synonym: "Absent/hypoplastic middle phalanx of 2nd finger" EXACT [] synonym: "Absent/small middle index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic/aplastic middle phalanx of index finger" EXACT [] xref: UMLS:C1862144 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009569 name: Broad middle phalanx of the 2nd finger def: "Increased width of the middle phalanx of the second finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Broad middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024288 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009844 ! Broad middle phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009570 name: Bullet-shaped middle phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024287 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009571 name: Curved middle phalanx of the 2nd finger def: "Curved appearance of the middle phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024286 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009846 ! Curved middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009572 name: Osteolytic defects of the middle phalanx of the 2nd finger alt_id: HP:0004134 def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Lytic defects of middle index finger phalanx" EXACT [] xref: UMLS:C4021437 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009573 name: Patchy sclerosis of the middle phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024285 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100904 ! Sclerosis of the middle phalanx of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009574 name: Symphalangism of middle phalanx of 2nd finger def: "Fusion of the middle phalanx of the 2nd finger with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024284 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009575 name: Triangular shaped middle phalanx of the 2nd finger def: "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024283 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009576 name: Absent middle phalanx of 2nd finger alt_id: HP:0005760 def: "Absence of the middle phalanx of the index (2nd) finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent middle phalanx of index finger" EXACT [] synonym: "Aplasia of the middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021436 is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009577 name: Short middle phalanx of the 2nd finger alt_id: HP:0004133 def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Brachymesophalangy II (finger)" EXACT [] synonym: "Hypoplastic middle index finger phalanx" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 2nd finger" EXACT [] synonym: "Short middle bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021435 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009579 name: Proximal/middle symphalangism of the 2nd finger def: "Fusion of the proximal and middle phalanges of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost and middle index finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024282 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:23:12Z [Term] id: HP:0009580 name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger synonym: "Absent/small innermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024281 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009581 name: Broad proximal phalanx of the 2nd finger alt_id: HP:0004126 def: "Increased width of the proximal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide/broad proximal index finger phalanx" EXACT [] xref: UMLS:C4021434 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009852 ! Broad proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009582 name: Bullet-shaped proximal phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024280 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009583 name: Curved proximal phalanx of the 2nd finger def: "Curved appearance of the proximal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024279 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009854 ! Curved proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009584 name: Osteolytic defects of the proximal phalanx of the 2nd finger alt_id: HP:0004123 def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Lytic defects of proximal index finger phalanx" EXACT [] xref: UMLS:C4021433 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009585 name: Patchy sclerosis of the proximal phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the second finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in innermost index finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024278 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100908 ! Sclerosis of the proximal phalanx of the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009586 name: Symphalangism affecting the proximal phalanx of the 2nd finger def: "Fusion of the proximal phalanx of the 2nd finger with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024277 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009587 name: Triangular shaped proximal phalanx of the 2nd finger alt_id: HP:0004125 def: "Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular proximal index finger phalanx" EXACT [] synonym: "Triangular shaped innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021432 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009588 name: Vestibular schwannoma def: "A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acoustic Neuroma" EXACT [] synonym: "Vestibular neurilemmoma" EXACT [] synonym: "Vestibular neurinoma" EXACT [] synonym: "Vestibular neurolemmoma" EXACT [] synonym: "Vestibular Schwann cell tumor" EXACT [] synonym: "Vestibular Schwann cell tumour" EXACT uk_spelling [] xref: NCIT:C3269 xref: SNOMEDCT_US:126949007 xref: SNOMEDCT_US:985004 xref: UMLS:C0027859 is_a: HP:0009591 ! Abnormal vestibulocochlear nerve morphology is_a: HP:0040096 ! Neoplasm of the inner ear is_a: HP:0100008 ! Schwannoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-28T10:37:32Z [Term] id: HP:0009589 name: Bilateral vestibular schwannoma def: "A bilateral vestibular schwannoma (acoustic neurinoma)." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral acoustic neuromas" EXACT [] xref: UMLS:C1136042 is_a: HP:0009588 ! Vestibular schwannoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-28T10:39:14Z [Term] id: HP:0009590 name: Unilateral vestibular schwannoma def: "A unilateral vestibular schwannoma (acoustic neurinoma)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1863653 is_a: HP:0009588 ! Vestibular schwannoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-28T10:40:23Z [Term] id: HP:0009591 name: Abnormal vestibulocochlear nerve morphology def: "Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing." [https://orcid.org/0000-0002-0736-9199, PMID:30726044] synonym: "Abnormal eighth cranial nerve morphology" EXACT [] synonym: "Abnormality of the vestibulocochlear nerve" EXACT [] synonym: "Abnormality of the VIIIth cranial nerve" EXACT [] xref: UMLS:C4021431 is_a: HP:0001291 ! Abnormal cranial nerve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-28T10:42:57Z [Term] id: HP:0009592 name: Astrocytoma def: "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:38713004 xref: UMLS:C0004114 is_a: HP:0009733 ! Glioma is_a: HP:0100707 ! Abnormal astrocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-28T10:51:01Z [Term] id: HP:0009593 name: Peripheral schwannoma def: "The presence of a peripheral schwannoma." [https://orcid.org/0000-0002-0736-9199] comment: A Peripheral schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells. xref: UMLS:C4024276 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100008 ! Schwannoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-28T10:55:58Z [Term] id: HP:0009594 name: Retinal hamartoma def: "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1863411 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0010568 ! Hamartoma of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-28T10:58:47Z [Term] id: HP:0009595 name: obsolete Occasional neurofibromas property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0001067 creation_date: 2009-01-28T11:12:19Z [Term] id: HP:0009596 name: Aplasia of the proximal phalanx of the 2nd finger def: "Absence of the proximal phalanx of the 2nd finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent innermost bone of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024275 is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T10:19:36Z [Term] id: HP:0009597 name: Short proximal phalanx of the 2nd finger alt_id: HP:0004124 def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic/small proximal phalanx of the 2nd finger" EXACT [] synonym: "Short proximal index finger phalanx" EXACT [] synonym: "Short proximal phalanx of the second finger" EXACT [] xref: UMLS:C4021430 is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger is_a: HP:0010241 ! Short proximal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T10:19:36Z [Term] id: HP:0009598 name: Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal def: "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused innermost bone of index finger with 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024274 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T10:21:45Z [Term] id: HP:0009599 name: Abnormality of thumb epiphysis alt_id: HP:0004074 def: "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). synonym: "Abnormality of end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the epiphyses of the thumb" EXACT [] synonym: "Abnormality of thumb epiphyses" EXACT [] xref: UMLS:C4021429 is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T11:46:15Z [Term] id: HP:0009600 name: Thumb contracture alt_id: HP:0004061 alt_id: HP:0006043 def: "Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected." [https://orcid.org/0000-0002-0736-9199, PMID:16214063, PMID:24975760, PMID:31282072] synonym: "Contracture of thumb" EXACT [] synonym: "Flexion deformities of thumbs" EXACT [] synonym: "Joint contractures of the thumb" EXACT [] synonym: "Thumb joint contracture" EXACT [] xref: SNOMEDCT_US:239736003 xref: UMLS:C0409346 is_a: HP:0001172 ! Abnormal thumb morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T01:06:31Z [Term] id: HP:0009601 name: Aplasia/Hypoplasia of the thumb alt_id: HP:0002950 alt_id: HP:0006225 def: "Hypoplastic/small or absent thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent or hypoplastic thumbs" EXACT [] synonym: "Absent/hypoplastic thumb" EXACT [] synonym: "Absent/hypoplastic thumbs" EXACT [] synonym: "Absent/small thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia/hypoplasia of thumbs" EXACT [] synonym: "Aplastic/hypoplastic thumbs" EXACT [] synonym: "Hypoplastic to aplastic thumbs" EXACT [] synonym: "Hypoplastic/absent thumb" EXACT [] synonym: "Thumb aplasia/hypoplasia" EXACT [] xref: UMLS:C3179508 is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T01:08:24Z [Term] id: HP:0009602 name: Abnormality of thumb phalanx alt_id: HP:0004063 alt_id: HP:0004064 def: "A structural anomaly of one or more phalanges of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of thumb phalanges" EXACT [] xref: UMLS:C4021428 is_a: HP:0001172 ! Abnormal thumb morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T01:10:39Z [Term] id: HP:0009603 name: Deviation of the thumb alt_id: HP:0004062 def: "Displacement of the thumb from its normal position." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal thumb placement" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Deviated thumb" EXACT [] synonym: "Displacement of the thumb" EXACT [] xref: UMLS:C3552414 is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0004097 ! Deviation of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T01:49:57Z [Term] id: HP:0009606 name: Complete duplication of distal phalanx of the thumb alt_id: HP:0004084 alt_id: HP:0005784 def: "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021427 is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of thumb phalanx is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T03:28:16Z [Term] id: HP:0009608 name: Complete duplication of proximal phalanx of the thumb alt_id: HP:0004078 def: "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the innermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024273 is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of thumb phalanx is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T03:32:28Z [Term] id: HP:0009609 name: Duplication of the 1st metacarpal def: "Partail or complete duplication of the first metacarpal bone." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side. synonym: "Partial/complete duplication of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the 1st metacarpal" EXACT [] xref: UMLS:C4021426 is_a: HP:0010006 ! Duplication of the proximal phalanx of hand is_a: HP:0010009 ! Abnormal 1st metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T03:33:31Z [Term] id: HP:0009611 name: Bifid distal phalanx of the thumb alt_id: HP:0004086 alt_id: HP:0005703 alt_id: HP:0005827 alt_id: HP:0005848 alt_id: HP:0006090 def: "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones." [https://orcid.org/0009-0006-4530-3154] comment: Note that with bifid distal phalanx, the terminal phalanx of the thumb is clefted but is still one bone. With duplication of the terminal phalanx of the thumb, the distal phalanx is split into two bones that are located side by side. With triphalangeal thumb, the thumb has three phalanxes located one after the other. synonym: "Bifid distal phalanx of thumb" EXACT [] synonym: "Bifid terminal phalanges of thumbs" EXACT [] synonym: "Bifid thumb distal phalanx" EXACT [] synonym: "Incipient distal thumb phalanx duplication" EXACT [] synonym: "Notched outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Notched outermost bone of thumb" EXACT [] synonym: "Notched terminal thumb phalanx" EXACT [] xref: UMLS:C1860162 is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of thumb phalanx is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T03:48:49Z [Term] id: HP:0009612 name: Duplication of the distal phalanx of the thumb def: "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [https://orcid.org/0009-0006-4530-3154] synonym: "Double thumb distal phalanges" EXACT [] synonym: "Duplicated terminal phalanx of thumb" EXACT [] synonym: "Duplication of distal thumb phalanx" EXACT [] synonym: "Duplication of terminal thumb phalanx" EXACT [] synonym: "Duplication of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the thumb" EXACT [] xref: UMLS:C4021425 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009942 ! Duplication of thumb phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T03:51:43Z [Term] id: HP:0009613 name: Duplication of the proximal phalanx of the thumb def: "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0009-0006-4530-3154] synonym: "Notched innermost bone of thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the thumb" EXACT [] xref: UMLS:C4021424 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T03:59:56Z [Term] id: HP:0009614 name: Bifid proximal phalanx of the thumb def: "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Notched thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024272 is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of thumb phalanx is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:01:27Z [Term] id: HP:0009615 name: Complete duplication of the first metacarpal def: "Complete duplication of the first metacarpal bone." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated. synonym: "Complete duplication of the first long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024271 is_a: HP:0009609 ! Duplication of the 1st metacarpal is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009616 name: Bifid first metacarpal def: "Partial duplication of the first metacarpal bone." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape. synonym: "Notched first long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "partial duplication of the first metacarpal" EXACT [] xref: UMLS:C4021423 is_a: HP:0009609 ! Duplication of the 1st metacarpal is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009617 name: Abnormality of the distal phalanx of the thumb alt_id: HP:0004081 def: "Any anomaly of the distal phalanx of thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of terminal thumb phalanx" EXACT [] synonym: "Abnormality of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021422 is_a: HP:0009602 ! Abnormality of thumb phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009618 name: Abnormality of the proximal phalanx of the thumb alt_id: HP:0004076 def: "An anomaly of the shape or form of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="https://orcid.org/0000-0002-0736-9199"} synonym: "Abnormal innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of proximal thumb phalanx" EXACT [] xref: UMLS:C4021421 is_a: HP:0009602 ! Abnormality of thumb phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009620 name: obsolete Radial deviation of the thumb is_obsolete: true replaced_by: HP:0001234 [Term] id: HP:0009621 name: obsolete Ulnar deviation of the thumb is_obsolete: true consider: HP:0009602 [Term] id: HP:0009622 name: Distally placed thumb alt_id: HP:0005755 def: "Insertion of thumb at a more distal location than normal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024270 is_a: HP:0009603 ! Deviation of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009623 name: Proximal placement of thumb alt_id: HP:0001170 alt_id: HP:0005668 def: "Proximal mislocalization of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. subset: hposlim_core synonym: "Attachment of thumb close to wrist" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Low implantation of the thumb" EXACT [] synonym: "Low-set thumb" EXACT [] synonym: "Proximally placed thumbs" EXACT [] xref: UMLS:C1865572 is_a: HP:0009603 ! Deviation of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009624 name: Carpometacarpal thumb joint contracture def: "Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Contracture of the carpometacarpal joint of the thumb" EXACT [] xref: UMLS:C4024269 is_a: HP:0009600 ! Thumb contracture property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009625 name: Metacarpophalangeal thumb joint contracture def: "Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis." [https://orcid.org/0000-0002-0736-9199] synonym: "Contracture of the metacarpophalangeal joint of the thumb" EXACT [] xref: UMLS:C2108151 is_a: HP:0009600 ! Thumb contracture property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009626 name: Interphalangeal thumb joint contracture alt_id: HP:0005697 def: "Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis." [https://orcid.org/0000-0002-0736-9199] synonym: "Contracture of the interphalangeal joint of the thumb" EXACT [] synonym: "Interphalangeal extension contractures of thumbs" EXACT [] xref: UMLS:C2108146 is_a: HP:0001220 ! Interphalangeal joint contracture of finger is_a: HP:0009600 ! Thumb contracture property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009629 name: Aplasia/Hypoplasia of the proximal phalanx of the thumb def: "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024268 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009630 name: Broad proximal phalanx of the thumb def: "Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024267 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009844 ! Broad middle phalanx of finger is_a: HP:0009852 ! Broad proximal phalanges of the hand is_a: HP:0011304 ! Broad thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009631 name: Bullet-shaped proximal phalanx of the thumb def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024266 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped thumb phalanx is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009632 name: Curved proximal phalanx of the thumb def: "A deviation from the normal straight shape of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024265 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009653 ! Curved thumb phalanx is_a: HP:0009846 ! Curved middle phalanges of the hand is_a: HP:0009854 ! Curved proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009633 name: Osteolytic defect of the proximal phalanx of the thumb def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Osteolytic defects of the proximal phalanx of the thumb" EXACT [] xref: UMLS:C4021420 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defect of thumb phalanx is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009634 name: Patchy sclerosis of the proximal phalanx of the thumb def: "An uneven increase in bone density of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024264 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100913 ! Sclerosis of the proximal phalanx of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009635 name: Synostosis of thumb phalanx def: "Fusion of a phalanx of the thumb with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fusion of thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024263 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009849 ! Symphalangism of middle phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009636 name: Triangular shaped proximal phalanx of the thumb alt_id: HP:0004080 def: "Triangular shaped proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular proximal thumb phalanx" EXACT [] xref: UMLS:C4021419 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped thumb phalanx is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009637 name: Absent proximal phalanx of thumb alt_id: HP:0004077 def: "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent innermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent ossification/absent proximal thumb phalanx" EXACT [] synonym: "Aplasia of the proximal phalanx of the thumb" EXACT [] xref: UMLS:C4021418 is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009638 name: Short proximal phalanx of thumb alt_id: HP:0004079 alt_id: HP:0006073 def: "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic/small proximal phalanx of the thumb" EXACT [] synonym: "Short proximal phalanges of thumb" EXACT [] synonym: "Short proximal thumb bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short proximal thumb phalanx" EXACT [] xref: UMLS:C1855091 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb is_a: HP:0009660 ! Short phalanx of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009640 name: Synostosis of the proximal phalanx of the thumb with the 1st metacarpal def: "Fusion of the proximal phalanx of the thumb with the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199, PMID:26571461] synonym: "Ankylosis of the metacarpophalangeal joint of the thumb" EXACT [] synonym: "Fusion of the innermost bone of the thumb with the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024262 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009635 ! Synostosis of thumb phalanx is_a: HP:0009703 ! Synostosis involving the 1st metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:17:08Z [Term] id: HP:0009641 name: Aplasia/Hypoplasia of the distal phalanx of the thumb synonym: "Absent/small outermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024261 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009642 name: Broad distal phalanx of the thumb alt_id: HP:0004088 alt_id: HP:0006198 def: "Increased width of the distal phalanx of thumb." [https://orcid.org/0009-0006-4530-3154] synonym: "Broad outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad terminal thumb phalanx" EXACT [] synonym: "Wide distal phalanx of thumb" EXACT [] synonym: "Wide outermost bone of thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1863402 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009836 ! Broad distal phalanx of finger is_a: HP:0011304 ! Broad thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009643 name: Bullet-shaped distal phalanx of the thumb def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024260 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped thumb phalanx is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009644 name: Curved distal phalanx of the thumb def: "A deviation from the normal straight shape of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024259 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009653 ! Curved thumb phalanx is_a: HP:0009838 ! Curved distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009645 name: Osteolytic defect of the distal phalanx of the thumb def: "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Osteolytic defects of the distal phalanx of the thumb" EXACT [] synonym: "Osteolytic defects of the outermost bone of the thumb" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021417 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defect of thumb phalanx is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009646 name: Patchy sclerosis of the distal phalanx of the thumb def: "An uneven increase in bone density of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024258 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100912 ! Sclerosis of the distal phalanx of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009648 name: Triangular shaped distal phalanx of the thumb def: "Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular shaped outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024257 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped thumb phalanx is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009649 name: Aplasia of the distal phalanx of the thumb alt_id: HP:0004082 def: "Absence of the distal/terminal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent ossification/absent terminal thumb phalanx" EXACT [] synonym: "Aplasia of the outermost bone of the thumb" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021416 is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009650 name: Short distal phalanx of the thumb alt_id: HP:0004085 alt_id: HP:0004087 def: "Hypoplastic (short) distal phalanx of the thumb." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic terminal thumb phalanx" EXACT [] synonym: "Hypoplastic/small distal phalanx of the thumb" EXACT [] synonym: "Short outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short terminal thumb phalanx" EXACT [] synonym: "Short thumb terminal phalanx" EXACT [] synonym: "Small terminal thumb phalanx" EXACT [] xref: UMLS:C1862313 is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009660 ! Short phalanx of the thumb is_a: HP:0009882 ! Short distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009652 name: Bullet-shaped thumb phalanx def: "An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped phalanges of the thumb" EXACT [] synonym: "Bullet-shaped thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021415 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009769 ! Bullet-shaped phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009653 name: Curved thumb phalanx def: "A deviation from the normal straight shape of a thumb phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved phalanges of the thumb" EXACT [] synonym: "Curved thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021414 is_a: HP:0004095 ! Curved fingers is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009770 ! Curved phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009654 name: Osteolytic defect of thumb phalanx def: "Dissolution or degeneration of bone tissue of one or more phalanges of the thumb." [https://orcid.org/0000-0002-0736-9199] comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). synonym: "Osteolytic defects of the phalanges of the thumb" EXACT [] xref: UMLS:C4020905 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009655 name: Patchy sclerosis of thumb phalanx def: "An uneven increase in bone density of one or more of the phalanges of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the thumb" EXACT [] synonym: "Uneven increase in bone density in thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021413 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009656 name: Symphalangism of the thumb alt_id: HP:0004068 alt_id: HP:0009639 alt_id: HP:0009647 def: "Congenital fusion (ankylosis) of the interphalangeal joint of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:22379556] comment: Symphalangism is caused by a failure of segmentation that occurs during early fetal development. synonym: "Fused thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused thumb phalanges" EXACT [] synonym: "Symphalangism of the distal and proximal phalanges of the thumb" EXACT [] xref: UMLS:C1834032 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009635 ! Synostosis of thumb phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009657 name: Triangular shaped thumb phalanx alt_id: HP:0004072 def: "Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle." [https://orcid.org/0000-0002-0736-9199] comment: A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). synonym: "Triangular shaped phalanges of the thumb" EXACT [] synonym: "Triangular shaped thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular thumb phalanges" EXACT [] xref: UMLS:C4021412 is_a: HP:0009602 ! Abnormality of thumb phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009658 name: Aplasia/Hypoplasia of the phalanges of the thumb alt_id: HP:0005834 synonym: "Absent/small thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024256 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009659 name: Partial absence of thumb alt_id: HP:0004065 def: "The absence of a phalangeal segment of a thumb." [PMID:probinson] synonym: "Aplasia of the phalanges of the thumb" RELATED [] synonym: "Partial absence of thumb" EXACT layperson [] xref: UMLS:C4020780 xref: UMLS:C4024255 is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009660 name: Short phalanx of the thumb alt_id: HP:0004069 alt_id: HP:0004071 def: "Hypoplastic (short) thumb phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic thumb phalanges" EXACT [] synonym: "Hypoplastic/small phalanges of the thumb" EXACT [] synonym: "Short thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short thumb phalanges" EXACT [] xref: UMLS:C4021411 is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0009778 ! Short thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009662 name: Abnormality of the epiphysis of the distal phalanx of the thumb alt_id: HP:0004089 def: "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of terminal thumb epiphysis" EXACT [] synonym: "Abnormality of the end part of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021410 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:49:31Z [Term] id: HP:0009663 name: Abnormality of the epiphysis of the proximal phalanx of the thumb def: "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024254 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-29T05:49:31Z [Term] id: HP:0009664 name: Absent epiphysis of the proximal phalanx of the thumb def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024253 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009686 ! Absent epiphyses of the thumb is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009665 name: Bracket epiphysis of the proximal phalanx of the thumb def: "An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024252 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009687 ! Bracket epiphyses of the thumb is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009666 name: Cone-shaped epiphysis of the proximal phalanx of the thumb def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024251 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009667 name: Enlarged epiphysis of the proximal phalanx of the thumb def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024250 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009689 ! Enlarged thumb epiphysis is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009668 name: Fragmentation of the epiphysis of the proximal phalanx of the thumb def: "Epiphysis of the proximal phalanx of the thumb having multiple bony fragments." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024249 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of thumb epiphysis is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009669 name: Irregular epiphysis of the proximal phalanx of the thumb def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024248 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009691 ! Irregular thumb epiphysis is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009670 name: Ivory epiphysis of the proximal phalanx of the thumb def: "Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the innermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024247 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphysis of the thumb is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009671 name: Pseudoepiphysis of the proximal phalanx of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024246 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphysis of the thumb is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009672 name: Small epiphysis of the proximal phalanx of the thumb def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024245 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009694 ! Small thumb epiphysis is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009673 name: Stippling of the epiphysis of the proximal phalanx of the thumb def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024244 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009695 ! Stippling of thumb epiphysis is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009674 name: Triangular epiphysis of the proximal phalanx of the thumb def: "A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular end part of thumb innermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024243 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009675 name: Absent epiphysis of the distal phalanx of the thumb def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024242 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009686 ! Absent epiphyses of the thumb is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009676 name: Bracket epiphysis of the distal phalanx of the thumb def: "An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024241 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009687 ! Bracket epiphyses of the thumb is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009677 name: Cone-shaped epiphysis of the distal phalanx of the thumb alt_id: HP:0004091 def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped terminal thumb phalanx epiphysis" EXACT [] xref: UMLS:C4021409 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009678 name: Enlarged epiphysis of the distal phalanx of the thumb alt_id: HP:0004092 def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Large terminal thumb phalanx epiphysis" EXACT [] xref: UMLS:C4021408 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009689 ! Enlarged thumb epiphysis is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009679 name: Fragmentation of the epiphysis of the distal phalanx of the thumb def: "Epiphysis of the distal phalanx of the thumb having multiple bony fragments." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part thumb outermost long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024240 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of thumb epiphysis is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009680 name: Irregular epiphysis of the distal phalanx of the thumb def: "Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of thumb outermost bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024239 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009691 ! Irregular thumb epiphysis is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009681 name: Ivory epiphysis of the distal phalanx of the thumb def: "Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the outermost bone of the thumb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024238 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphysis of the thumb is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009682 name: Pseudoepiphysis of the distal phalanx of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Pseudoepiphysis of the outermost bone of the thumb" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024237 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphysis of the thumb is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009683 name: Small epiphysis of the distal phalanx of the thumb def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of thumb outermost bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024236 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009694 ! Small thumb epiphysis is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009684 name: Stippling of the epiphysis of the distal phalanx of the thumb def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in the end part of the outermost thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024235 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009695 ! Stippling of thumb epiphysis is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009685 name: Triangular epiphysis of the distal phalanx of the thumb def: "A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular end part of thumb outermost bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular epiphysis of the outermost bone of the thumb" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024234 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009686 name: Absent epiphyses of the thumb def: "Absence of one or more epiphyses of the thumb." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024233 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009687 name: Bracket epiphyses of the thumb def: "An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108] synonym: "Bracket shaped end part of the thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024232 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009688 name: Cone-shaped epiphysis of the thumb alt_id: HP:0004075 def: "A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of the thumb" EXACT [] synonym: "Cone-shaped thumb epiphyses" EXACT [] xref: UMLS:C4021407 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009689 name: Enlarged thumb epiphysis def: "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged epiphyses of the thumb" EXACT [] xref: UMLS:C4021406 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009690 name: Fragmentation of thumb epiphysis def: "Epiphysis of the thumb having multiple bony fragments." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of long bone of thumb" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fragmentation of the epiphyses of the thumb" EXACT [] xref: UMLS:C4021405 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009691 name: Irregular thumb epiphysis def: "Uneven radiographic opacity of the one or more epiphyses of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Irregular epiphyses of the thumb" EXACT [] xref: UMLS:C4021404 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009692 name: Ivory epiphysis of the thumb def: "Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the thumb" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ivory epiphyses of the thumb" EXACT [] xref: UMLS:C4021403 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100922 ! Sclerosis of thumb phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009693 name: Pseudoepiphysis of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Pseudoepiphyses of the thumb" EXACT [] xref: UMLS:C3552484 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009694 name: Small thumb epiphysis def: "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of thumb long bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small epiphyses of the thumb" EXACT [] xref: UMLS:C4021402 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009695 name: Stippling of thumb epiphysis def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the thumb" EXACT [] xref: UMLS:C4021401 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009696 name: Triangular epiphyses of the thumb synonym: "Triangular end part of the thumb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024231 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009697 name: Contracture of the distal interphalangeal joint of the fingers def: "Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024230 is_a: HP:0001220 ! Interphalangeal joint contracture of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:01:28Z [Term] id: HP:0009699 name: Osteolytic defects of the hand bones alt_id: HP:0004282 alt_id: HP:0006082 synonym: "Lytic defects of hand bones" EXACT [] xref: UMLS:C4021400 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:08:52Z [Term] id: HP:0009700 name: Finger symphalangism def: "An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \"bony\" Syndactyly." [https://orcid.org/0009-0006-4530-3154] synonym: "Fused finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism of the hand" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Synostosis involving bones of the fingers" EXACT [] xref: UMLS:C4021399 is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0100262 ! Synostosis involving digits property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:12:24Z [Term] id: HP:0009701 name: Metacarpal synostosis alt_id: HP:0005915 alt_id: HP:0006041 def: "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Fused long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Synostosis involving metacarpal bones" EXACT [] synonym: "Synostosis involving the metacarpal bones" EXACT [] xref: UMLS:C4021398 is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:13:07Z [Term] id: HP:0009702 name: Carpal synostosis alt_id: HP:0001192 alt_id: HP:0005799 def: "Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Carpal bone fusion" EXACT [] synonym: "Carpal fusion" EXACT [] synonym: "Fused carpal bones" EXACT [] synonym: "Fused wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fusion of carpal bones" EXACT [] synonym: "Synostosis involving the carpal bones" EXACT [] xref: SNOMEDCT_US:253930002 xref: UMLS:C0431863 is_a: HP:0001191 ! Abnormal carpal morphology is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0100266 ! Synostosis of carpals/tarsals property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:25:10Z [Term] id: HP:0009703 name: Synostosis involving the 1st metacarpal alt_id: HP:0005614 alt_id: HP:0010032 def: "Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "First metacarpophalangeal joint synostosis" EXACT [] synonym: "Fusion involving 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism affecting the 1st metacarpal" EXACT [] xref: UMLS:C4021397 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010009 ! Abnormal 1st metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:26:41Z [Term] id: HP:0009704 name: Chronic CSF lymphocytosis def: "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic cerebrospinal fluid lymphocytosis" EXACT [] xref: UMLS:C4024229 is_a: HP:0200149 ! CSF lymphocytic pleiocytosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-30T06:24:59Z [Term] id: HP:0009705 name: Synostosis involving the 2nd metacarpal synonym: "Fusion involving the 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024228 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010010 ! Abnormal 2nd metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009706 name: Synostosis involving the 3rd metacarpal synonym: "Fusion involving the 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024227 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010011 ! Abnormal 3rd metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009707 name: Synostosis involving the 4th metacarpal synonym: "Fusion involving the 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024226 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010012 ! Abnormal 4th metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009708 name: Synostosis involving the 5th metacarpal synonym: "Fusion involving the 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024225 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010013 ! Abnormal 5th metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009709 name: Increased CSF interferon alpha def: "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1856983 is_a: HP:0025454 ! Abnormal CSF metabolite concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-30T06:27:06Z [Term] id: HP:0009710 name: Chilblains def: "Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks." [https://orcid.org/0000-0002-0736-9199, PMID:1832531, PMID:22025653] synonym: "Chilblain lesions" EXACT [] xref: UMLS:C4024224 is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-30T07:26:24Z [Term] id: HP:0009711 name: Retinal capillary hemangioma def: "A benign vascular tumor of the retina without any neoplastic characteristics." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Retinal hemangioblastoma" EXACT [] xref: NCIT:C3801 xref: SNOMEDCT_US:312935003 xref: UMLS:C0730303 xref: UMLS:C1514915 is_a: HP:0001028 ! Hemangioma is_a: HP:0009594 ! Retinal hamartoma is_a: HP:0010797 ! Hemangioblastoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-30T11:08:05Z [Term] id: HP:0009713 name: Spinal hemangioblastoma def: "A hemangioblastoma of the spinal cord." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3801 xref: UMLS:C4024223 is_a: HP:0010302 ! Spinal cord tumor is_a: HP:0010797 ! Hemangioblastoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-30T11:24:31Z [Term] id: HP:0009714 name: Abnormal epididymis morphology def: "An abnormality of the epididymis." [https://orcid.org/0000-0002-0736-9199] comment: The epididymis is the structure that connects efferent ductules to vas deferens. synonym: "Abnormality of the epididymis" EXACT [] xref: UMLS:C4024222 is_a: HP:0000022 ! Abnormal male internal genitalia morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-30T11:44:43Z [Term] id: HP:0009715 name: Papillary cystadenoma of the epididymis alt_id: HP:0030422 def: "A cystadenoma, an epithelial tumor, that originates within the head of the epididymis." [https://orcid.org/0000-0002-0736-9199, PMID:24441657] comment: Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis. xref: NCIT:C2974 xref: UMLS:C4024221 is_a: HP:0009714 ! Abnormal epididymis morphology is_a: HP:0030421 ! Epididymal neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-30T11:46:33Z [Term] id: HP:0009716 name: Subependymal nodules def: "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178] xref: UMLS:C1968958 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology is_a: HP:0009731 ! Cerebral hamartoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-30T11:57:28Z [Term] id: HP:0009717 name: Cortical tubers def: "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1968959 is_a: HP:0002538 ! Abnormal cerebral cortex morphology is_a: HP:0009731 ! Cerebral hamartoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:03:16Z [Term] id: HP:0009718 name: Subependymal giant-cell astrocytoma def: "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:1586004 xref: SNOMEDCT_US:449799008 xref: UMLS:C0205768 is_a: HP:0009592 ! Astrocytoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:07:02Z [Term] id: HP:0009719 name: Hypomelanotic macule def: "Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis." [https://orcid.org/0000-0002-0736-9199, PMID:10695583] comment: While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin. synonym: "Hypomelanotic macules" EXACT plural_form [] xref: UMLS:C4024220 is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0020073 ! Hypopigmented macule property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:16:52Z [Term] id: HP:0009720 name: Adenoma sebaceum def: "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin." [https://orcid.org/0000-0002-0736-9199] comment: Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis. synonym: "Facial angiofibromas" EXACT [] synonym: "Sebaceous adenoma" EXACT [] synonym: "Sebaceous adenomas" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:36025004 xref: SNOMEDCT_US:78424008 xref: UMLS:C0265319 xref: UMLS:C1368816 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010615 ! Angiofibromas is_a: HP:0011799 ! Abnormality of facial soft tissue property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:19:37Z [Term] id: HP:0009721 name: Shagreen patch def: "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather." [https://orcid.org/0000-0002-0736-9199, PMID:10695583] subset: hposlim_core xref: SNOMEDCT_US:254244007 xref: UMLS:C0432363 is_a: HP:0100898 ! Connective tissue nevi property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T09:36:32Z [Term] id: HP:0009722 name: Dental enamel pits def: "The presence of small depressions in the dental enamel." [https://orcid.org/0000-0002-0736-9199] synonym: "Dental enamel pits" EXACT layperson [] synonym: "Dental enamel pitting" EXACT [] synonym: "Pitting of tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth enamel pits" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860711 is_a: HP:0000682 ! Abnormal dental enamel morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T09:44:34Z [Term] id: HP:0009723 name: Abnormal subungual morphology def: "A lesion located beneath a fingernail or toenail." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the subungual region" EXACT [] xref: UMLS:C4024219 is_a: HP:0001597 ! Abnormal nail morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T09:49:06Z [Term] id: HP:0009724 name: Subungual fibromas def: "The presence of fibromata beneath finger or toenails." [https://orcid.org/0000-0002-0736-9199] synonym: "Subungual fibroma" RELATED [] xref: SNOMEDCT_US:39295002 xref: UMLS:C0266003 is_a: HP:0009723 ! Abnormal subungual morphology is_a: HP:0010614 ! Fibroma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T09:49:51Z [Term] id: HP:0009725 name: Bladder neoplasm def: "The presence of a neoplasm of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Bladder cancer" EXACT [] synonym: "Bladder tumor" RELATED [] synonym: "Bladder tumour" RELATED uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126885006 xref: UMLS:C0005695 is_a: HP:0010786 ! Urinary tract neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:43:55Z [Term] id: HP:0009726 name: Renal neoplasm alt_id: HP:0005933 def: "The presence of a neoplasm of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney cancer" BROAD layperson [] synonym: "Neoplasia of the kidneys" EXACT [] synonym: "Renal neoplasia" RELATED [] synonym: "Renal tumors" EXACT layperson [] synonym: "Renal tumours" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126880001 xref: UMLS:C0022665 xref: UMLS:C1378703 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0010786 ! Urinary tract neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:41:48Z [Term] id: HP:0009727 name: Achromatic retinal patches def: "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:11264130] synonym: "Punched out areas of chorioretinal hypopigmentation" EXACT [] xref: UMLS:C1860710 is_a: HP:0007894 ! Hypopigmentation of the fundus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:49:15Z [Term] id: HP:0009728 name: Neoplasm of striated muscle def: "A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle." [https://orcid.org/0009-0006-4530-3154] synonym: "Tumors of striated muscle" EXACT [] synonym: "Tumours of striated muscle" EXACT uk_spelling [] xref: NCIT:C3262 xref: UMLS:C4021396 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0011793 ! Neoplasm by anatomical site property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:52:25Z [Term] id: HP:0009729 name: Cardiac rhabdomyoma def: "A benign tumor of cardiac striated muscle." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1332852 is_a: HP:0009730 ! Rhabdomyoma is_a: HP:0100544 ! Neoplasm of the heart property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:53:11Z [Term] id: HP:0009730 name: Rhabdomyoma def: "A benign tumor of striated muscle." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3358 xref: SNOMEDCT_US:302846007 xref: SNOMEDCT_US:402877008 xref: SNOMEDCT_US:43375002 xref: UMLS:C0035411 is_a: HP:0009728 ! Neoplasm of striated muscle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:54:01Z [Term] id: HP:0009731 name: Cerebral hamartoma def: "The presence of a hamartoma of the cerebrum." [https://orcid.org/0000-0002-0736-9199] comment: Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum. synonym: "Cerebral hamartomata" EXACT [] xref: UMLS:C4024218 is_a: HP:0010566 ! Hamartoma is_a: HP:0100835 ! Benign neoplasm of the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:02:09Z [Term] id: HP:0009732 name: Plexiform neurofibroma def: "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:403818001 xref: SNOMEDCT_US:41252002 xref: UMLS:C0206728 is_a: HP:0001067 ! Neurofibroma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:12:32Z [Term] id: HP:0009733 name: Glioma def: "The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes)." [https://orcid.org/0000-0002-0736-9199] comment: Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas. xref: NCIT:C3059 xref: SNOMEDCT_US:115240006 xref: SNOMEDCT_US:393564001 xref: SNOMEDCT_US:74532006 xref: UMLS:C0017638 is_a: HP:0030063 ! Neuroepithelial neoplasm is_a: HP:0100705 ! Abnormal glial cell morphology is_a: HP:0100836 ! Malignant neoplasm of the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:15:22Z [Term] id: HP:0009734 name: Optic nerve glioma def: "A glioma originating in the optic nerve or optic chiasm." [https://orcid.org/0000-0002-0736-9199] synonym: "Optic glioma" EXACT [] xref: SNOMEDCT_US:254976006 xref: SNOMEDCT_US:404662003 xref: UMLS:C0346326 is_a: HP:0009733 ! Glioma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:17:13Z [Term] id: HP:0009735 name: Spinal neurofibroma alt_id: HP:0007077 def: "A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine." [https://orcid.org/0000-0002-0736-9199] comment: Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels. synonym: "Spinal neurofibromas" EXACT plural_form [] xref: UMLS:C4024217 is_a: HP:0034761 ! Neurofibroma by anatomical location property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:19:24Z [Term] id: HP:0009736 name: Tibial pseudarthrosis def: "Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life." [https://orcid.org/0000-0002-0736-9199, PMID:30996736] synonym: "Tibial pseudoarthrosis" EXACT [] xref: UMLS:C4024216 is_a: HP:0002992 ! Abnormal tibia morphology is_a: HP:0005864 ! Pseudoarthrosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:22:24Z [Term] id: HP:0009737 name: Lisch nodules def: "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Iris hamartomas" EXACT [] xref: UMLS:C1860334 is_a: HP:0010568 ! Hamartoma of the eye is_a: HP:0034819 ! Iris nodule property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T11:45:04Z [Term] id: HP:0009738 name: Abnormal antihelix morphology def: "An abnormality of the antihelix." [https://orcid.org/0000-0002-0736-9199] comment: An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis. subset: hposlim_core synonym: "Abnormal antehelix" EXACT [] synonym: "Abnormal anthelix" EXACT [] synonym: "Abnormal antihelix" EXACT [] xref: UMLS:C4021395 is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:39:37Z [Term] id: HP:0009739 name: Hypoplasia of the antihelix def: "Developmental hypoplasia of the antihelix." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic antihelix" EXACT [] xref: UMLS:C4021394 is_a: HP:0009738 ! Abnormal antihelix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:41:43Z [Term] id: HP:0009740 name: Aplasia of the parotid gland def: "Absence of the parotid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormally small parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of the parotid gland" RELATED [] synonym: "Hypoplasia of parotid gland" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1400252 xref: UMLS:C4020779 xref: UMLS:C4024215 is_a: HP:0000197 ! Abnormal parotid gland morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T12:51:47Z [Term] id: HP:0009741 name: Nephrosclerosis def: "Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [https://orcid.org/0000-0002-0736-9199] synonym: "Scarring of kidney arteries" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Thickening of kidney artiries" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:32916005 xref: UMLS:C0027719 is_a: HP:0012210 ! Abnormal renal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T01:15:08Z [Term] id: HP:0009742 name: Stiff shoulders def: "Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity." [https://orcid.org/0000-0002-0736-9199] synonym: "Stiff shoulders" EXACT layperson [] xref: SNOMEDCT_US:249918006 xref: UMLS:C0241042 is_a: HP:0001387 ! Joint stiffness is_a: HP:0033129 ! Abnormal shoulder physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T02:02:05Z [Term] id: HP:0009743 name: Distichiasis def: "Double rows of eyelashes." [https://orcid.org/0000-0002-0736-9199] comment: Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. subset: hposlim_core synonym: "Distichiasis of eyelid eyelashes" EXACT [] xref: SNOMEDCT_US:95339000 xref: UMLS:C0423848 is_a: HP:0008496 ! Multiple rows of eyelashes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T02:07:50Z [Term] id: HP:0009744 name: Abnormal spinal dura mater morphology def: "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the spinal dura mater" EXACT [] xref: UMLS:C4024214 is_a: HP:0010303 ! Abnormal spinal meningeal morphology is_a: HP:0010652 ! Abnormal dura mater morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T02:20:51Z [Term] id: HP:0009745 name: Spinal arachnoid cyst def: "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space." [https://orcid.org/0000-0002-0736-9199] synonym: "Epidural arachnoid cysts of the spinal canal" EXACT [] xref: UMLS:C4021393 is_a: HP:0010303 ! Abnormal spinal meningeal morphology is_a: HP:0100702 ! Arachnoid cyst property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T02:22:38Z [Term] id: HP:0009746 name: Thick nasal septum def: "Abnormally increased thickness of the nasal septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick nasal septum" EXACT layperson [] synonym: "Thick septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844810 is_a: HP:0000419 ! Abnormal nasal septum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T02:44:09Z [Term] id: HP:0009747 name: Lumbosacral hirsutism def: "Abnormally increased hair growth in the lumbosacral region." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1851095 is_a: HP:0009889 ! Localized hirsutism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T03:21:52Z [Term] id: HP:0009748 name: Large earlobe alt_id: HP:0004449 alt_id: HP:0004456 def: "Increased volume of the earlobe, that is, abnormally prominent ear lobules." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood. subset: hposlim_core synonym: "Fleshy earlobe" EXACT layperson [] synonym: "Fleshy earlobes" EXACT layperson [] synonym: "Large earlobe" EXACT layperson [] synonym: "Prominent ear lobes" EXACT layperson [] synonym: "Prominent ear lobules" EXACT layperson [] xref: UMLS:C1844573 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T04:02:42Z [Term] id: HP:0009751 name: Aplasia of the pectoralis major muscle def: "Absence of the pectoralis major muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent pectoralis major muscle" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024213 is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia is_a: HP:0100854 ! Aplasia of the musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T05:18:55Z [Term] id: HP:0009752 name: Cleft in skull base def: "A bony defect in the skull base." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft in cranial base" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft in skull base" EXACT layperson [] xref: UMLS:C1856027 is_a: HP:0002693 ! Abnormal skull base morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T05:45:00Z [Term] id: HP:0009754 name: Fibrous syngnathia def: "Complete or nearly complete soft tissue fusion of the alveolar ridges." [PMID:19125428] comment: This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae. subset: hposlim_core synonym: "Alveolar synechiae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Fusion of the alveolar ridges" EXACT [] xref: UMLS:C4021392 is_a: HP:0000277 ! Abnormal mandible morphology is_a: HP:0006477 ! Abnormal alveolar ridge morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T08:50:29Z [Term] id: HP:0009755 name: Ankyloblepharon def: "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue." [PMID:18125427] comment: A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. subset: hposlim_core synonym: "Adhesion of eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ankyloblepharon filiforme adnatum" EXACT [] synonym: "Eyelid synechiae" EXACT [] synonym: "Eyelids stuck together" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fused eyelid" EXACT [] xref: SNOMEDCT_US:193953008 xref: SNOMEDCT_US:400952003 xref: UMLS:C0339182 xref: UMLS:C1302999 is_a: HP:0000492 ! Abnormal eyelid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T08:52:59Z [Term] id: HP:0009756 name: Popliteal pterygium def: "A pterygium (or pterygia) occurring in the popliteal region (the back of the knee)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C3805420 is_a: HP:0001059 ! Pterygium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T08:54:18Z [Term] id: HP:0009757 name: Intercrural pterygium def: "A pterygium (or pterygia) in the intercrural (groin) region." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3810471 is_a: HP:0001059 ! Pterygium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T08:58:49Z [Term] id: HP:0009758 name: Pyramidal skinfold extending from the base to the top of the nails def: "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024212 is_a: HP:0001597 ! Abnormal nail morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T09:08:49Z [Term] id: HP:0009759 name: Neck pterygia def: "Pterygia affecting the neck." [https://orcid.org/0000-0002-0736-9199] synonym: "Neck pterygium" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849577 is_a: HP:0001059 ! Pterygium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:10:09Z [Term] id: HP:0009760 name: Antecubital pterygium def: "Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Pterygium cubitale" EXACT [] synonym: "Webbed elbow" EXACT [] xref: UMLS:C1867439 is_a: HP:0001059 ! Pterygium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:12:24Z [Term] id: HP:0009761 name: Anterior clefting of vertebral bodies def: "Anterior schisis (cleft or cleavage) of vertebral bodies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1849579 is_a: HP:0008428 ! Vertebral clefting property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-01-31T10:40:39Z [Term] id: HP:0009762 name: Facial wrinkling def: "Excessive wrinkling of the skin of the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial wrinkling" EXACT layperson [] xref: SNOMEDCT_US:248194004 xref: UMLS:C0262478 is_a: HP:0100678 ! Premature skin wrinkling property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-01T03:12:09Z [Term] id: HP:0009763 name: Limb pain def: "Chronic pain in the limbs with no clear focal etiology." [https://orcid.org/0000-0002-0736-9199] synonym: "Limb pain" EXACT layperson [] synonym: "Pain in extremities" RELATED layperson [] xref: SNOMEDCT_US:90834002 xref: UMLS:C0030196 is_a: HP:0011843 ! Abnormal musculoskeletal physiology is_a: HP:0012531 ! Pain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-01T03:55:10Z [Term] id: HP:0009765 name: Low hanging columella alt_id: HP:0009766 def: "Columella extending inferior to the level of the nasal base, when viewed from the side." [PMID:19152422] synonym: "Columella extends below the ala nasi" RELATED [] synonym: "Columella, low" EXACT [] synonym: "Columella, low hanging" EXACT [] synonym: "Extension of the columella below the ala nasi" EXACT [] synonym: "Low-hanging columella" EXACT [] synonym: "Prominent columella" RELATED [] synonym: "Rounded columella" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856119 xref: UMLS:C4280395 is_a: HP:0009929 ! Abnormal columella morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-01T11:01:14Z [Term] id: HP:0009767 name: Aplasia/Hypoplasia of the phalanges of the hand alt_id: HP:0006056 alt_id: HP:0006100 alt_id: HP:0009801 def: "Small or missing phalangeal bones of the fingers of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Aplastic/hypoplastic phalanges" EXACT [] synonym: "Aplastic/hypoplastic phalanges of the hand" EXACT [] synonym: "Hypoplastic/absent phalanges" EXACT [] xref: UMLS:C1848670 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009768 name: Broad phalanges of the hand alt_id: HP:0001246 alt_id: HP:0006260 def: "Increased width of the phalanges of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Widening of phalanges of the hand" EXACT [] xref: UMLS:C4021391 is_a: HP:0001500 ! Broad finger is_a: HP:0005918 ! Abnormal finger phalanx morphology is_a: HP:0006009 ! Broad phalanx is_a: HP:0040070 ! Abnormal upper limb bone morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009769 name: Bullet-shaped phalanges of the hand alt_id: HP:0004270 alt_id: HP:0006139 def: "The presence of short and wide phalanges which taper distally (\"bullet shaped\")." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the hands" EXACT [] synonym: "Conical bullet-shaped distal ends of phalanges" EXACT [] xref: UMLS:C1854952 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009770 name: Curved phalanges of the hand synonym: "Curved hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024211 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009771 name: Osteolytic defects of the phalanges of the hand alt_id: HP:0001179 def: "Dissolution or degeneration of bone tissue of the phalanges of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Acro-osteolysis" EXACT [] synonym: "Acroosteolysis" EXACT [] synonym: "Breakdown of small bones of fingers" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:27201004 xref: SNOMEDCT_US:63122002 xref: UMLS:C0917990 is_a: HP:0005918 ! Abnormal finger phalanx morphology is_a: HP:0009699 ! Osteolytic defects of the hand bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009772 name: Patchy sclerosis of finger phalanx alt_id: HP:0006071 def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the hand" EXACT [] synonym: "Phalangeal sclerosis" EXACT [] synonym: "Uneven increase in bone density in finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1857508 is_a: HP:0004286 ! Patchy sclerosis of hand bones is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0100899 ! Sclerosis of finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009773 name: Symphalangism affecting the phalanges of the hand alt_id: HP:0006187 alt_id: HP:0006258 def: "Fusion of two or more phalangeal bones of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Synostosis involving phalanges of the hand" EXACT [] xref: UMLS:C4021390 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009774 name: Triangular shaped phalanges of the hand alt_id: HP:0006085 alt_id: HP:0009874 synonym: "Delta phalanx/delta-like phalanx" EXACT [] synonym: "Triangular shaped hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2673397 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009775 name: Amniotic constriction ring alt_id: HP:0001078 def: "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands." [https://orcid.org/0000-0002-0736-9199] comment: Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers. synonym: "Amniotic bands" EXACT [] synonym: "Amniotic constriction band" RELATED [] synonym: "Congenital constriction band sequence" EXACT [] synonym: "Pseudoainhum" EXACT [] xref: SNOMEDCT_US:19988008 xref: SNOMEDCT_US:238879003 xref: UMLS:C0334166 xref: UMLS:C1527388 is_a: HP:0011409 ! Abnormal placental membrane morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T05:36:41Z [Term] id: HP:0009776 name: Adactyly def: "The absence of all phalanges of all the digits of a limb and the associated soft tissues." [PMID:19125433] comment: This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly. subset: hposlim_core synonym: "Absent fingers or toes" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aphalangy" EXACT [] xref: Fyler:4173 xref: SNOMEDCT_US:275348004 xref: UMLS:C0238591 xref: UMLS:C4280394 is_a: HP:0009380 ! Finger aplasia is_a: HP:0010760 ! Absent toe is_a: HP:6000818 ! Transverse terminal limb defect property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T05:44:39Z [Term] id: HP:0009777 name: Absent thumb alt_id: HP:0001185 alt_id: HP:0002802 alt_id: HP:0009627 def: "Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Absent thumb" EXACT layperson [] synonym: "Absent thumbs" EXACT layperson [] synonym: "Aplasia of the thumb" EXACT [] synonym: "Thumb aplasia" EXACT [] xref: UMLS:C3278811 is_a: HP:0009380 ! Finger aplasia is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009778 name: Short thumb alt_id: HP:0001183 alt_id: HP:0001186 alt_id: HP:0001589 alt_id: HP:0005699 alt_id: HP:0006151 alt_id: HP:0009628 def: "Hypoplasia (congenital reduction in size) of the thumb." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic thumb" EXACT [] synonym: "Hypoplastic thumbs" EXACT [] synonym: "Hypoplastic/small thumb" EXACT [] synonym: "Short thumb" EXACT layperson [] synonym: "Short thumbs" EXACT layperson [] synonym: "Small thumbs" EXACT layperson [] synonym: "Thumb brachydactyly" EXACT [] synonym: "Thumb hypoplasia" EXACT [] xref: SNOMEDCT_US:253936008 xref: UMLS:C0431890 is_a: HP:0009381 ! Short finger is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009779 name: 3-4 toe syndactyly alt_id: HP:0004708 def: "Syndactyly with fusion of toes three and four." [https://orcid.org/0009-0006-4530-3154] synonym: "syndactyly of 3rd - 4th toes" EXACT [] synonym: "Webbed 3rd-4th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834062 is_a: HP:0001770 ! Toe syndactyly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T04:43:16Z [Term] id: HP:0009780 name: Iliac horns def: "Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:84308008 xref: UMLS:C0263925 is_a: HP:0003796 ! Irregular iliac crest property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T04:48:00Z [Term] id: HP:0009781 name: Lester's sign def: "A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024210 is_a: HP:0001100 ! Heterochromia iridis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T04:50:17Z [Term] id: HP:0009782 name: Aplasia/Hypoplasia of the biceps def: "Absence or underdevelopment of the biceps muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small biceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped biceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024209 is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T04:52:01Z [Term] id: HP:0009783 name: Biceps aplasia def: "Absence of the biceps muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent biceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3805764 is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps is_a: HP:0100854 ! Aplasia of the musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T04:57:47Z [Term] id: HP:0009784 name: Aplasia/Hypoplasia of the triceps def: "Absence or underdevelopment of the triceps muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small triceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped triceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024208 is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T04:58:31Z [Term] id: HP:0009785 name: Triceps aplasia def: "Absence of the triceps muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent triceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3810484 is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps is_a: HP:0100854 ! Aplasia of the musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:15:21Z [Term] id: HP:0009786 name: Aplasia/Hypoplasia of the musculature of the thigh def: "Absence or underdevelopment involving the musculature of the thigh." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small thigh muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thigh muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024207 is_a: HP:0001441 ! Abnormality thigh musculature morphology is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:16:42Z [Term] id: HP:0009787 name: Aplasia/Hypoplasia of the quadriceps def: "Absence or underdevelopment of the quadriceps muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small quadriceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped quadriceps" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024206 is_a: HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:17:40Z [Term] id: HP:0009788 name: Quadriceps aplasia def: "Absence of the quadriceps muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent quads" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3805765 is_a: HP:0009787 ! Aplasia/Hypoplasia of the quadriceps is_a: HP:0100854 ! Aplasia of the musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:18:11Z [Term] id: HP:0009789 name: Perianal abscess def: "The presence of an abscess located around the anus." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:82127005 xref: UMLS:C0031019 is_a: HP:0031292 ! Cutaneous abscess is_a: HP:0034915 ! Abnormal anus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:19:42Z [Term] id: HP:0009790 name: Hemisacrum def: "A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2677632 is_a: HP:0008490 ! Sacral segmentation defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:21:37Z [Term] id: HP:0009791 name: Bifid sacrum def: "Presence of a bifid sacral bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024204 is_a: HP:0008490 ! Sacral segmentation defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:22:25Z [Term] id: HP:0009792 name: Teratoma def: "The presence of a teratoma." [https://orcid.org/0000-0002-0736-9199] comment: Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations. xref: NCIT:C3403 xref: SNOMEDCT_US:55818009 xref: UMLS:C0039538 is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0100728 ! Germ cell neoplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:23:03Z [Term] id: HP:0009793 name: Presacral teratoma def: "A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV)." [https://orcid.org/0000-0002-0736-9199] comment: Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx. synonym: "Altman type IV sacrococcygeal teratoma" EXACT [] synonym: "Retrorectal teratoma" EXACT [] xref: UMLS:C1867782 is_a: HP:0030736 ! Sacrococcygeal teratoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-03T05:23:57Z [Term] id: HP:0009794 name: Branchial anomaly def: "Congenital developmental defect arising from the primitive branchial apparatus." [https://orcid.org/0009-0006-4530-3154] comment: During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck. subset: hposlim_core synonym: "Abnormality of branchial apparatus" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of branchial arch" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Branchial abnormality" EXACT [] synonym: "Branchial anomalies" EXACT [] xref: UMLS:C1862066 is_a: HP:0025668 ! Abnormal neck morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-11T05:16:20Z [Term] id: HP:0009795 name: Branchial fistula def: "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Branchial cleft fistula" EXACT [] xref: SNOMEDCT_US:204268008 xref: UMLS:C0546968 is_a: HP:0009794 ! Branchial anomaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-11T05:17:12Z [Term] id: HP:0009796 name: Branchial cyst def: "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region." [https://orcid.org/0009-0006-4530-3154] comment: Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. synonym: "Branchial cleft cyst" RELATED [] synonym: "Branchial cysts" EXACT [] xref: SNOMEDCT_US:42362005 xref: SNOMEDCT_US:59857007 xref: UMLS:C0006131 is_a: HP:0009794 ! Branchial anomaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-11T05:18:08Z [Term] id: HP:0009797 name: Cholesteatoma def: "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:363668000 xref: SNOMEDCT_US:575006 xref: UMLS:C0008373 is_a: HP:0008609 ! Abnormal middle ear morphology is_a: HP:0100799 ! Neoplasm of the middle ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-11T05:20:04Z [Term] id: HP:0009798 name: Euthyroid goiter def: "A goiter that is not associated with functional thyroid abnormalities." [https://orcid.org/0000-0002-0736-9199] synonym: "Euthyroid goitre" EXACT uk_spelling [] xref: SNOMEDCT_US:32251000119106 xref: UMLS:C0302859 is_a: HP:0000853 ! Goiter property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-11T05:21:23Z [Term] id: HP:0009799 name: Supernumerary spleens def: "The presence of two or more accessory spleens." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:10362008 xref: UMLS:C0266631 is_a: HP:0025408 ! Abnormal spleen morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-11T05:44:01Z [Term] id: HP:0009800 name: Maternal diabetes def: "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [https://orcid.org/0000-0002-0736-9199] synonym: "gestational diabetes" EXACT layperson [] synonym: "Maternal diabetes" EXACT layperson [] synonym: "maternal hyperglycemia" NARROW [] xref: SNOMEDCT_US:11687002 xref: UMLS:C0085207 xref: UMLS:C4020778 is_a: HP:0002686 ! Pregnancy history property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-12T05:44:58Z [Term] id: HP:0009802 name: Aplasia of the phalanges of the hand def: "Absence of one or more of the phalanges of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent finger bone of the hand" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024203 xref: UMLS:C4280393 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009823 ! Aplasia involving bones of the upper limbs property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-12T05:56:07Z [Term] id: HP:0009803 name: Short phalanx of finger alt_id: HP:0001168 alt_id: HP:0005771 alt_id: HP:0006087 alt_id: HP:0006126 def: "Short (hypoplastic) phalanx of finger, affecting one or more phalanges." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic phalanges" EXACT [] synonym: "Hypoplastic phalanges of hands" EXACT [] synonym: "Hypoplastic/small phalanges of the hand" EXACT [] synonym: "Phalangeal hypoplasia" EXACT [] synonym: "Rudimentary phalanges" EXACT [] synonym: "Short finger bones" EXACT layperson [] synonym: "Short phalanges" EXACT [] synonym: "Shortened phalanges" EXACT [] xref: UMLS:C0877165 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-12T05:57:11Z [Term] id: HP:0009804 name: Tooth agenesis def: "The absence of one or more teeth from the normal series by a failure to develop" [https://orcid.org/0009-0006-4530-3154, PMID:31468724] comment: Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. synonym: "Decreased number of teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased tooth count" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dental agenesis" EXACT [] synonym: "Failure of development of some teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Fewer teeth than normal" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing some teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced number of teeth" EXACT layperson [] synonym: "Teeth, agenesis" EXACT plural_form [] xref: UMLS:C4024202 xref: UMLS:C4083050 is_a: HP:0006483 ! Abnormal number of teeth creation_date: 2009-02-14T06:20:53Z [Term] id: HP:0009805 name: Low-output congestive heart failure def: "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024201 is_a: HP:0001635 ! Congestive heart failure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-16T11:10:18Z [Term] id: HP:0009806 name: Nephrogenic diabetes insipidus def: "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111395007 xref: UMLS:C0162283 is_a: HP:0000873 ! Diabetes insipidus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-02-16T11:23:28Z [Term] id: HP:0009808 name: Anomaly of the upper limb diaphyses alt_id: HP:0003857 def: "A structural abnormality of a diaphysis of the arm." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Abnormality involving the diaphyses of the upper limbs" EXACT [] synonym: "Abnormality of shaft of long bone of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Diaphyseal abnormality of the upper limbs" EXACT [] xref: UMLS:C4021389 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009809 name: Abnormal upper limb metaphysis morphology alt_id: HP:0003847 def: "An anomaly of one or more metaphyses of the arms." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the wide portion of upper limb bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of upper limb metaphysis" EXACT [] synonym: "Metaphyseal abnormality of the upper limbs" EXACT [] xref: UMLS:C4021388 is_a: HP:0000944 ! Abnormal metaphysis morphology is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009810 name: Abnormality of upper limb joint synonym: "Abnormality of the joints of the upper limbs" EXACT layperson [] synonym: "Abnormality of upper limb joint" EXACT layperson [] xref: UMLS:C4021387 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T04:57:56Z [Term] id: HP:0009811 name: Abnormality of the elbow alt_id: HP:0002966 def: "An anomaly of the joint that connects the upper and the lower arm." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the elbow" EXACT layperson [] synonym: "Abnormality of the elbows" EXACT layperson [] xref: UMLS:C4021386 is_a: HP:0009810 ! Abnormality of upper limb joint property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T04:59:43Z [Term] id: HP:0009812 name: Amelia involving the upper limbs def: "Amelia of one or both upper limbs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024200 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009827 ! Amelia is_a: HP:6000918 ! Transverse terminal upper limb defect property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009813 name: Upper limb phocomelia def: "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:253926000 xref: UMLS:C0265573 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009829 ! Phocomelia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009814 name: Upper limb peromelia def: "Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation." [https://orcid.org/0009-0006-4530-3154] xref: UMLS:C4024199 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009828 ! Peromelia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009815 name: Aplasia/hypoplasia of the extremities alt_id: HP:0002969 alt_id: HP:0006497 def: "Absence (due to failure to form) or underdevelopment of the extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short or absent limbs" EXACT [] synonym: "Shortened limbs" EXACT [] xref: UMLS:C0239399 is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton is_a: HP:0040064 ! Abnormality of limbs property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:06:40Z [Term] id: HP:0009816 name: Lower limb undergrowth alt_id: HP:0003087 alt_id: HP:0005884 alt_id: HP:0006399 def: "Leg shortening because of underdevelopment of one or more bones of the lower extremity." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia involving bones of the lower limbs" EXACT [] synonym: "Hypoplasia of the lower limbs" EXACT [] synonym: "Lower limb undergrowth" EXACT layperson [] synonym: "Underdeveloped lower limb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:253959002 xref: UMLS:C0345371 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009826 ! Limb undergrowth property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:09:32Z [Term] id: HP:0009817 name: Aplasia involving bones of the lower limbs synonym: "Absent bones of the lower limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024198 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:10:03Z [Term] id: HP:0009818 name: Amelia involving the lower limbs def: "Complete or near-complete absence of a leg." [https://orcid.org/0000-0002-0736-9199, PMID:2305372] xref: UMLS:C4024197 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009827 ! Amelia is_a: HP:6000946 ! Transverse terminal lower limb defect property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009819 name: Lower limb phocomelia def: "Phocomelia affecting only the lower limbs." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:253963009 xref: UMLS:C0265625 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009829 ! Phocomelia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009820 name: Lower limb peromelia def: "Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation." [https://orcid.org/0009-0006-4530-3154] xref: UMLS:C4024196 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:0009828 ! Peromelia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009821 name: Forearm undergrowth alt_id: HP:0003024 alt_id: HP:0003968 alt_id: HP:0006405 def: "Forearm shortening because of underdevelopment of one or more bones of the forearm." [https://orcid.org/0000-0002-0736-9199] synonym: "Forearm undergrowth" EXACT layperson [] synonym: "Hypoplasia involving forearm bones" EXACT [] synonym: "Short forearm bones" EXACT layperson [] synonym: "Short forearms" EXACT layperson [] synonym: "Shortened forearm" EXACT layperson [] xref: UMLS:C1855299 is_a: HP:0003026 ! Short long bone is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones is_a: HP:0009824 ! Upper limb undergrowth property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:11:42Z [Term] id: HP:0009822 name: Aplasia involving forearm bones synonym: "Absent forearm bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024195 is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:12:10Z [Term] id: HP:0009823 name: Aplasia involving bones of the upper limbs synonym: "Absent bones of the upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024194 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009824 name: Upper limb undergrowth alt_id: HP:0003056 alt_id: HP:0006364 def: "Arm shortening because of underdevelopment of one or more bones of the upper extremity." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia involving bones of the upper limbs" EXACT [] synonym: "Short arms" EXACT layperson [] synonym: "Shortening of the arms" EXACT layperson [] synonym: "Upper limb undergrowth" EXACT layperson [] xref: UMLS:C1837406 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009826 ! Limb undergrowth property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009825 name: Aplasia involving bones of the extremities synonym: "Absent bones of the extremities" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024193 is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009826 name: Limb undergrowth alt_id: HP:0003058 alt_id: HP:0005049 alt_id: HP:0005057 def: "Limb shortening because of underdevelopment of one or more bones of the extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia involving bones of the extremities" EXACT [] synonym: "limb shortening" EXACT layperson [] synonym: "Limb undergrowth" EXACT layperson [] synonym: "Short limb" EXACT layperson [] synonym: "Short limbs" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0239399 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009827 name: Amelia def: "Congenital absence (aplasia) of one or more limbs." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core xref: MEDDRA:10001926 "Amelia" xref: SNOMEDCT_US:62588002 xref: UMLS:C0002447 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009828 name: Peromelia def: "The distal parts of the limbs are missing leading to a stump formation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024192 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009829 name: Phocomelia alt_id: HP:0002994 def: "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MEDDRA:10034923 "Phocomelia" xref: SNOMEDCT_US:22841008 xref: UMLS:C0031575 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities is_a: HP:0011314 ! Abnormal long bone morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009830 name: Peripheral neuropathy alt_id: HP:0003157 alt_id: HP:0003407 alt_id: HP:0007088 alt_id: HP:0007235 alt_id: HP:0007355 def: "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [https://orcid.org/0009-0006-4530-3154] comment: Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. synonym: "Neuropathy" RELATED [] synonym: "Peripheral nerve damage" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Peripheral neuritis" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:386033004 xref: SNOMEDCT_US:42658009 xref: UMLS:C0031117 xref: UMLS:C0442874 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-03-01T07:49:18Z [Term] id: HP:0009831 name: Mononeuropathy def: "A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution." [https://orcid.org/0000-0002-0736-9199] synonym: "Single damaged nerve" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:128189008 xref: UMLS:C0494491 is_a: HP:0009830 ! Peripheral neuropathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-03-01T08:27:29Z [Term] id: HP:0009832 name: Abnormal distal phalanx morphology of finger alt_id: HP:0005919 def: "Any anomaly of distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal terminal phalanges of the hand" EXACT [] synonym: "Abnormality of the distal phalanges of the hand" EXACT [] synonym: "Abnormality of the distal phalanx of finger" EXACT [] synonym: "Abnormality of the outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021385 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009833 name: Abnormal middle phalanx morphology of the hand def: "An anomaly of middle phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the middle finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the middle phalanges of the hand" EXACT [] xref: UMLS:C4024191 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009834 name: Abnormal proximal phalanx morphology of the hand synonym: "Abnormality of the innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanges of the hand" EXACT [] xref: UMLS:C4024190 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009835 name: Aplasia/Hypoplasia of the distal phalanges of the hand alt_id: HP:0005635 alt_id: HP:0006037 alt_id: HP:0006066 alt_id: HP:0006235 def: "Absence or underdevelopment of the distal phalanges." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic distal phalanges" EXACT [] synonym: "Absent/small outermost finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia/Hypoplasia of the distal phalanges" EXACT [] synonym: "Aplastic/hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic to absent terminal phalanges" EXACT [] synonym: "Hypoplastic/aplastic distal phalanges" EXACT [] synonym: "Hypoplastic/aplastic distal phalanx" EXACT [] synonym: "Small or absent distal phalanges" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1861336 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009836 name: Broad distal phalanx of finger alt_id: HP:0003120 alt_id: HP:0006113 alt_id: HP:0006197 alt_id: HP:0006241 alt_id: HP:0009859 def: "Abnormally wide (broad) distal phalanx of finger." [https://orcid.org/0009-0006-4530-3154] comment: This term should be reserved for a radiological finding of increased width of the distal finger phalanx (bone). The term Broad fingertip should be used to denote a clinical impression of increased side to side width of the distance part of the finger. synonym: "Broad distal phalanges" EXACT [] synonym: "Broad distal phalanges of the hand" EXACT [] synonym: "Broad distal phalanx" EXACT [] synonym: "Broad outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad terminal phalanges" EXACT [] synonym: "Broad, square ends of distal phalanges" EXACT [] synonym: "Spatulate terminal phalanges" EXACT [] xref: UMLS:C1850630 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009837 name: Bullet-shaped distal phalanges of the hand alt_id: HP:0009860 def: "Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [] synonym: "Bullet-shaped outermost finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024189 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009838 name: Curved distal phalanges of the hand alt_id: HP:0009862 synonym: "Curved outermost finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024188 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009839 name: Osteolytic defects of the distal phalanges of the hand alt_id: HP:0001219 alt_id: HP:0009865 synonym: "Acro-osteolysis of distal phalanges" EXACT [] synonym: "Acroosteolysis of distal phalanges" EXACT [] synonym: "Osteolytic defects of the outermost finger bone of the hand" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849547 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009840 name: Patchy sclerosis of distal phalanx of finger alt_id: HP:0009868 def: "Uneven (irregular) increase in bone density of the distal phalanges of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the distal phalanges of the hand" EXACT [] synonym: "Uneven increase in bone density in outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021384 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100915 ! Sclerosis of distal finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009843 name: Aplasia/Hypoplasia of the middle phalanges of the hand alt_id: HP:0005810 alt_id: HP:0006063 alt_id: HP:0006148 synonym: "Absent/hypoplastic middle phalanges" EXACT [] synonym: "Absent/small middle finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle finger bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia/hypoplasia of middle phalanges" EXACT [] synonym: "Aplastic/hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic/aplastic middle phalanx" EXACT [] synonym: "Short to absent middle phalanges" EXACT [] synonym: "Short/absent middle phalanges" EXACT [] xref: UMLS:C1862152 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009844 name: Broad middle phalanx of finger def: "Increased width of the middle phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad middle finger bones" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Broad middle phalanges of finger" EXACT [] synonym: "Broad middle phalanges of the hand" EXACT [] xref: UMLS:C4021383 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009845 name: Bullet-shaped middle phalanges of the hand alt_id: HP:0006038 def: "Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024187 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009846 name: Curved middle phalanges of the hand alt_id: HP:0009863 synonym: "Curved middle finger bonds of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024186 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009847 name: Osteolytic defects of the middle phalanges of the hand alt_id: HP:0009866 xref: UMLS:C4024185 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009848 name: Patchy sclerosis of middle phalanx of finger alt_id: HP:0009870 def: "Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the middle phalanges of the hand" EXACT [] synonym: "Uneven increase in bone density in the middle finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021382 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100916 ! Sclerosis of middle finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009849 name: Symphalangism of middle phalanx of finger alt_id: HP:0009872 def: "Fusion of a middle phalanx of a finger with another bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024184 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009850 name: Triangular shaped middle phalanges of the hand alt_id: HP:0009876 synonym: "Triangular shaped middle finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024183 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009851 name: Aplasia/Hypoplasia of the proximal phalanges of the hand synonym: "Absent/small innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024182 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009852 name: Broad proximal phalanges of the hand alt_id: HP:0006168 def: "Increased width of the proximal phalanges of the finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024181 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009853 name: Bullet-shaped proximal phalanges of the hand alt_id: HP:0009861 def: "Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024180 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009854 name: Curved proximal phalanges of the hand alt_id: HP:0009864 synonym: "Curved innermost finger bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024179 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009855 name: Osteolytic defects of the proximal phalanges of the hand alt_id: HP:0006050 alt_id: HP:0009867 synonym: "Proximal phalanges osteolysis" EXACT [] xref: UMLS:C1850148 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009856 name: Patchy sclerosis of proximal phalanx of finger alt_id: HP:0009869 def: "Uneven increase in bone density of the proximal phalanges of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the proximal phalanges of the hand" EXACT [] synonym: "Uneven increase in bone density in innermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021381 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100917 ! Sclerosis of proximal finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009857 name: Symphalangism affecting the proximal phalanges of the hand alt_id: HP:0009873 synonym: "Fused innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024178 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009858 name: Triangular shaped proximal phalanges of the hand alt_id: HP:0009877 synonym: "Triangular shaped innermost finger bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024177 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009875 name: Triangular shaped distal phalanges of the hand alt_id: HP:0006061 alt_id: HP:0009842 synonym: "Triangular shaped outermost bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024176 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-03-11T01:53:07Z [Term] id: HP:0009878 name: Cerebellar ataxia associated with quadrupedal gait def: "The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024175 is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance creation_date: 2009-03-28T05:22:45Z [Term] id: HP:0009879 name: Simplified gyral pattern def: "An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:22427329] synonym: "Cortical gyral simplification" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2749675 is_a: HP:0002536 ! Abnormal cortical gyration creation_date: 2009-03-28T06:23:59Z [Term] id: HP:0009880 name: Broad distal phalanges of all fingers alt_id: HP:0005816 def: "Abnormally wide (broad) distal phalanx of finger of all fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024174 is_a: HP:0009836 ! Broad distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-04-24T04:18:59Z [Term] id: HP:0009881 name: Aplasia of the distal phalanges of the hand synonym: "Absent distal phalanges of the hand" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Absent outermost hand bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of outermost hand bone" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024173 is_a: HP:0009380 ! Finger aplasia is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-04-24T04:29:30Z [Term] id: HP:0009882 name: Short distal phalanx of finger alt_id: HP:0001198 alt_id: HP:0001202 alt_id: HP:0001221 alt_id: HP:0001229 alt_id: HP:0005669 alt_id: HP:0006075 alt_id: HP:0006076 alt_id: HP:0006132 alt_id: HP:0006199 alt_id: HP:0006223 def: "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint. subset: hposlim_core synonym: "Brachytelophalangy" EXACT [] synonym: "Distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplasia of the distal phalanges" EXACT [] synonym: "Hypoplasia of the distal phalanges of the hand" EXACT [] synonym: "Hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic terminal phalanges" EXACT [] synonym: "Short distal phalanges" EXACT [] synonym: "Short outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Terminal phalangeal hypoplasia of hand" EXACT [] xref: UMLS:C1839829 is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-04-24T04:29:30Z [Term] id: HP:0009883 name: Duplication of the distal phalanx of hand alt_id: HP:0001228 alt_id: HP:0010007 def: "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154] synonym: "Bifid terminal phalanges" EXACT [] synonym: "Duplication of the outermost bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Notched outermost bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanges of the hand" EXACT [] xref: UMLS:C1849343 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger is_a: HP:0009997 ! Duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-04-24T04:33:55Z [Term] id: HP:0009884 name: Tapered distal phalanges of finger alt_id: HP:0006052 def: "A reduction in diameter of the distal phalanx of finger towards the distal end." [https://orcid.org/0000-0002-0736-9199] synonym: "Tapered distal phalanges" EXACT [] synonym: "Tapered distal phalanges of the hand" EXACT [] synonym: "Tapered outermost finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1969237 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-04-24T04:40:31Z [Term] id: HP:0009885 name: obsolete Prenatal short stature is_obsolete: true consider: HP:0001511 [Term] id: HP:0009886 name: Trichorrhexis nodosa def: "Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:22486004 xref: SNOMEDCT_US:238736006 xref: UMLS:C0263485 is_a: HP:0003328 ! Abnormal hairshaft morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T05:51:57Z [Term] id: HP:0009887 name: Abnormality of hair pigmentation def: "An abnormality of hair pigmentation (color)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of hair color" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of hair colour" EXACT uk_spelling [] synonym: "Abnormality of hair pigmentation" EXACT layperson [] xref: UMLS:C4024172 is_a: HP:0001595 ! Abnormal hair morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T06:00:53Z [Term] id: HP:0009888 name: Abnormality of secondary sexual hair def: "Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of secondary sexual hair" EXACT layperson [] xref: UMLS:C4024171 is_a: HP:0001595 ! Abnormal hair morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T06:18:33Z [Term] id: HP:0009889 name: Localized hirsutism def: "Abnormally increased hair growth with a localized distribution." [https://orcid.org/0000-0002-0736-9199] synonym: "Localised abnormal hair growth" EXACT uk_spelling [] synonym: "Localised hirsutism" EXACT uk_spelling [] synonym: "Localized abnormal hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024170 is_a: HP:0001007 ! Hirsutism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T06:29:20Z [Term] id: HP:0009890 name: High anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella." [PMID:19125436] comment: This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. subset: hposlim_core synonym: "High frontal hairline" EXACT layperson [] xref: UMLS:C3276036 is_a: HP:0000599 ! Abnormality of the frontal hairline property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T06:34:27Z [Term] id: HP:0009891 name: Underdeveloped supraorbital ridges alt_id: HP:0004667 alt_id: HP:0004672 alt_id: HP:0005337 def: "Flatness of the supraorbital portion of the frontal bones." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] subset: hposlim_core synonym: "Depressed supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed supraorbital ridge" EXACT [] synonym: "Flat supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat supraorbital ridge" EXACT [] synonym: "Flattened bony protrusion above eyes" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hypoplasia of supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of the supraorbital ridges" EXACT [] synonym: "Hypoplastic supraorbital ridges" EXACT [] synonym: "Shallow orbital ridges" EXACT [] synonym: "Shallow supraorbital ridge" EXACT [] synonym: "Underdeveloped brows" RELATED layperson [] xref: UMLS:C1861869 xref: UMLS:C4020777 is_a: HP:0100538 ! Abnormality of the supraorbital ridges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T06:50:09Z [Term] id: HP:0009892 name: Anotia def: "Complete absence of any auricular structures." [https://orcid.org/0000-0002-0736-9199, PMID:19125421] comment: Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression. subset: hposlim_core synonym: "Absent ear" RELATED layperson [] synonym: "Absent ears" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Congenital absence of external ear" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:57436000 xref: UMLS:C0702139 xref: UMLS:C1408788 is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T06:53:41Z [Term] id: HP:0009893 name: Telangiectasia of the ear def: "The presence of telangiectasia of the ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C4024169 is_a: HP:0000377 ! Abnormal pinna morphology is_a: HP:0100585 ! Telangiectasia of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:07:39Z [Term] id: HP:0009894 name: Thickened ears def: "Increased thickness of the external ear." [] subset: hposlim_core synonym: "Thickened ears" EXACT layperson [] xref: UMLS:C4024168 is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:09:17Z [Term] id: HP:0009895 name: Abnormality of the crus of the helix def: "An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the crus of the ear" EXACT [] xref: UMLS:C4021380 is_a: HP:0011039 ! Abnormal helix morphology is_a: HP:3000022 ! Abnormal external ear cartilage morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:32:41Z [Term] id: HP:0009896 name: Abnormal antitragus morphology def: "An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C4024167 is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:13:21Z [Term] id: HP:0009897 name: Horizontal crus of helix def: "An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately. subset: hposlim_core synonym: "Helix, crus, horizontal" EXACT [] synonym: "Horizontal orientation of the crus of helix" EXACT [] synonym: "Horizontal orientation of the ear crus" EXACT [] synonym: "Railroad track ears" RELATED obsolete_synonym [] synonym: "Railroad track sign" RELATED obsolete_synonym [] xref: UMLS:C4021379 is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:34:52Z [Term] id: HP:0009898 name: Underdeveloped crus of the helix def: "Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] subset: hposlim_core synonym: "Hypoplasia of the crus of the ear" EXACT [] synonym: "Underdeveloped crus of the ear" EXACT [] xref: UMLS:C4021378 is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:36:43Z [Term] id: HP:0009899 name: Prominent crus of helix def: "The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] subset: hposlim_core synonym: "Abnormal prominence of the crus of the ear" EXACT [] synonym: "Helix, crus, prominent" EXACT [] synonym: "Hyperplastic helix crus" EXACT [] synonym: "Hypertrophic helix crus" EXACT [] xref: UMLS:C4021377 is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:38:06Z [Term] id: HP:0009900 name: Unilateral deafness def: "A unilateral absence of sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: Deafness affecting only one ear. synonym: "Deafness in one ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Deafness, unilateral" EXACT [] xref: SNOMEDCT_US:162342008 xref: UMLS:C2607947 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:42:23Z [Term] id: HP:0009901 name: Crumpled ear def: "Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds." [PMID:19152421] comment: This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth. subset: hposlim_core synonym: "Cauliflower ear" BROAD [] synonym: "Crumpled ear" EXACT layperson [] xref: UMLS:C4024166 is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:50:28Z [Term] id: HP:0009902 name: Cleft helix def: "A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix. subset: hposlim_core synonym: "Notched helix" EXACT [] synonym: "Notching of the ear helix" EXACT [] xref: UMLS:C4021376 is_a: HP:0011039 ! Abnormal helix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-04-30T10:52:45Z [Term] id: HP:0009903 name: Conjunctival nodule def: "Presence of nodules in the conjunctiva of the eye." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:428477002 xref: UMLS:C1996949 is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T05:04:15Z [Term] id: HP:0009904 name: Prominent ear helix def: "Abnormally prominent ear helix." [https://orcid.org/0000-0002-0736-9199] synonym: "Large helix" RELATED [] xref: UMLS:C4020776 xref: UMLS:C4024165 is_a: HP:0011039 ! Abnormal helix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T02:49:39Z [Term] id: HP:0009905 name: Thin ear helix def: "Decreased thickness of the helix of the ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C4024164 is_a: HP:0011039 ! Abnormal helix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T02:50:35Z [Term] id: HP:0009906 name: Aplasia/Hypoplasia of the earlobes def: "Absence or underdevelopment of the ear lobes." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small ear lobes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped ear lobes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1851792 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T02:55:12Z [Term] id: HP:0009907 name: Attached earlobe def: "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward." [PMID:19152421] comment: The earlobe does not have a dependent portion. subset: hposlim_core synonym: "Adherent earlobe" EXACT [] synonym: "Attached earlobe" EXACT layperson [] xref: UMLS:C4021375 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T02:57:50Z [Term] id: HP:0009908 name: Anterior creases of earlobe alt_id: HP:0008604 def: "Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe." [PMID:19152421] comment: Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately. subset: hposlim_core synonym: "Earlobe crease" EXACT layperson [] synonym: "Transverse earlobe creases" EXACT [] xref: UMLS:C1851897 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T03:00:22Z [Term] id: HP:0009909 name: Uplifted earlobe alt_id: HP:0009764 def: "An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: This finding is characteristic of Mowat-Wilson syndrome. subset: hposlim_core synonym: "Fleshy upturned lobules" EXACT [] synonym: "Lobe, uplifted" EXACT layperson [] synonym: "Uplifted earlobe" EXACT layperson [] synonym: "Uplifted earlobes" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Upturned earlobe" EXACT layperson [] synonym: "Upturned earlobes" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1856117 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T03:02:07Z [Term] id: HP:0009910 name: Aplasia of the middle ear ossicles def: "Absence of the middle ear ossicles, malleus, incus, and stapes." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent middle ear bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent middle ear ossicles" EXACT [] xref: UMLS:C4021374 is_a: HP:0004452 ! Abnormality of the middle ear ossicles property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T03:26:53Z [Term] id: HP:0009911 name: Abnormal temporal bone morphology def: "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the temporal bone" EXACT [] xref: UMLS:C4024163 is_a: HP:0000929 ! Abnormal skull morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T03:33:17Z [Term] id: HP:0009912 name: Abnormal tragus morphology def: "An abnormality of the tragus." [https://orcid.org/0000-0002-0736-9199] comment: The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal. synonym: "Abnormality of the tragus" EXACT [] xref: UMLS:C4024162 is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T03:39:56Z [Term] id: HP:0009913 name: Aplasia/Hypoplasia of the tragus def: "Aplasia or developmental hypoplasia of the tragus." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small tragus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped tragus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024161 is_a: HP:0009912 ! Abnormal tragus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T03:43:12Z [Term] id: HP:0009914 name: Cyclopia def: "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose." [HPO_CONTRIBUTOR:DDD_ncarter] subset: hposlim_core synonym: "Cyclops eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Single central eye" EXACT layperson [] xref: SNOMEDCT_US:205798005 xref: UMLS:C0266667 is_a: HP:0100886 ! Abnormality of globe location property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-01T03:52:15Z [Term] id: HP:0009915 name: Corneal asymmetry def: "The presence of a size difference between the left and right cornea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetry of the corneas" EXACT layperson [] xref: UMLS:C4021373 is_a: HP:0001120 ! Abnormality of corneal size property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T05:06:20Z [Term] id: HP:0009916 name: Anisocoria def: "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease." [https://orcid.org/0000-0002-0736-9199] comment: Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris. subset: hposlim_core synonym: "Asymmetric pupil sizes" EXACT layperson [] synonym: "Asymmetry of the pupils" EXACT layperson [] synonym: "Unequal pupil dilatation" EXACT [] synonym: "Unequal pupil size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:13045009 xref: UMLS:C0003079 is_a: HP:0000615 ! Abnormal pupil morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T05:46:50Z [Term] id: HP:0009917 name: Persistent pupillary membrane def: "The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil." [https://orcid.org/0000-0002-0736-9199] comment: The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris. xref: SNOMEDCT_US:95500008 xref: UMLS:C0344541 is_a: HP:0000615 ! Abnormal pupil morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T05:51:28Z [Term] id: HP:0009918 name: Ectopia pupillae def: "A malposition of the pupil owing to a developmental defect of the iris." [https://orcid.org/0000-0001-8727-6592, https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Corectopia" EXACT [] synonym: "Displaced pupil" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:193523008 xref: SNOMEDCT_US:392461003 xref: UMLS:C1271219 is_a: HP:0000615 ! Abnormal pupil morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T06:01:01Z [Term] id: HP:0009919 name: Retinoblastoma def: "A tumor of the eye originating from cells of the retina." [https://orcid.org/0000-0002-0736-9199] synonym: "Retina tumor" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Retina tumour" BROAD uk_spelling [] xref: NCIT:C7541 xref: SNOMEDCT_US:127002001 xref: SNOMEDCT_US:19906005 xref: SNOMEDCT_US:370967009 xref: UMLS:C0035335 xref: UMLS:C0524801 is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0012777 ! Retinal neoplasm is_a: HP:0030063 ! Neuroepithelial neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T06:23:25Z [Term] id: HP:0009920 name: Nevus of Ota def: "A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera." [PMID:14673306] synonym: "Congenital melanosis bulbi" EXACT [] synonym: "Mongolian spot" EXACT obsolete_synonym [] synonym: "Naevus fuscoceruleus ophthalmomaxillaris" EXACT uk_spelling [] synonym: "Nevus fuscoceruleus ophthalmomaxillaris" EXACT [] synonym: "Nevus of Ito" EXACT [] synonym: "Oculodermal melanocytosis" EXACT [] xref: SNOMEDCT_US:254817005 xref: SNOMEDCT_US:414929001 xref: UMLS:C0027961 is_a: HP:0003764 ! Nevus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T06:26:59Z [Term] id: HP:0009921 name: Duane anomaly alt_id: HP:0001109 def: "A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction" [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Globe retraction and deviation on adduction" RELATED [] synonym: "Limited eye motility from Duane anomaly" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Limited eye movement from Duane anomaly" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:60318001 xref: UMLS:C0013261 xref: UMLS:C1846464 xref: UMLS:C4072873 is_a: HP:0025068 ! Incomitant strabismus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T06:32:41Z [Term] id: HP:0009922 name: Vascular remnant arising from the disk def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth." [https://orcid.org/0000-0002-0736-9199, PMID:23772130] synonym: "Persistence of the hyaloid artery" EXACT [] synonym: "Persistent hyaloid artery" EXACT [] xref: UMLS:C4024160 is_a: HP:0007968 ! Remnants of the hyaloid vascular system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T06:43:07Z [Term] id: HP:0009924 name: Aplasia/Hypoplasia involving the nose def: "Underdevelopment or absence of the nose or parts thereof." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased nasal size" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of the nose" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic nose" NARROW [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:204519007 xref: SNOMEDCT_US:93278002 xref: UMLS:C0685684 xref: UMLS:C4024159 xref: UMLS:C4280392 is_a: HP:0005105 ! Abnormal nasal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-05T06:44:04Z [Term] id: HP:0009926 name: Epiphora alt_id: HP:0001486 def: "Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:28003974] comment: Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. subset: hposlim_core synonym: "Increased lacrimation" EXACT [] synonym: "Increased tears" EXACT layperson [] synonym: "Tearing" EXACT layperson [] synonym: "Watery eyes" EXACT layperson [] xref: SNOMEDCT_US:193982009 xref: SNOMEDCT_US:418035005 xref: UMLS:C0152227 is_a: HP:0000632 ! Lacrimation abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-02T10:52:28Z [Term] id: HP:0009927 name: Aplasia of the nose def: "Complete absence of all nasal structures." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent nose" EXACT layperson [] synonym: "Arrhinia" EXACT [] synonym: "Failure of development of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal underdevelopment" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:111317000 xref: UMLS:C0265740 xref: UMLS:C4280391 is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-05T06:44:57Z [Term] id: HP:0009928 name: Thick nasal alae def: "Increase in bulk of the ala nasi." [PMID:19152422] subset: hposlim_core synonym: "Ala nasi, thick" EXACT [] synonym: "Thickening of the alae nasi" EXACT [] xref: UMLS:C1844809 is_a: HP:0000429 ! Abnormal morphology of the nasal alae property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-05T06:47:43Z [Term] id: HP:0009929 name: Abnormal columella morphology def: "A structural abnormality of the columella." [https://orcid.org/0000-0002-0736-9199] comment: The columella is the fleshy external end of the nasal septum. synonym: "Abnormality of the columella" EXACT [] synonym: "Anomaly of the columella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the columella" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the columella" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024158 is_a: HP:0010938 ! Abnormal external nose morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-05T06:51:28Z [Term] id: HP:0009930 name: Asymmetry of the nares def: "Asymmetry or size difference between the left and right nostril." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetry of nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unequal nostril shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unequal nostril size" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven nostril shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven nostril size" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024157 is_a: HP:0005288 ! Abnormal nostril morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-05T07:06:20Z [Term] id: HP:0009931 name: Enlarged naris def: "Increased aperture of the nostril." [PMID:19152422] comment: The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age. subset: hposlim_core synonym: "Broad nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dilated nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dilated nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Enlarged nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Enlarged nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased diameter of nares" EXACT [] synonym: "Increased diameter of nostril" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nares" EXACT [] synonym: "Large nares" EXACT [] synonym: "Naris, broad" EXACT [] synonym: "Naris, enlarged" EXACT [] synonym: "Wide nares" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:399353008 xref: UMLS:C0426440 is_a: HP:0005288 ! Abnormal nostril morphology creation_date: 2009-05-10T10:30:20Z [Term] id: HP:0009932 name: Single naris def: "The presence of only a single nostril." [PMID:19152422] comment: The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified. subset: hposlim_core synonym: "Mono nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "One nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Single nare" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Single nostril" EXACT layperson [] xref: SNOMEDCT_US:95266003 xref: UMLS:C0685682 is_a: HP:0005288 ! Abnormal nostril morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T10:33:56Z [Term] id: HP:0009933 name: Narrow naris def: "Slender, slit-like aperture of the nostril." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Collapsed nostrils" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Naris, narrow" EXACT [] synonym: "Naris, slit-like" EXACT [] synonym: "Narrow nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Slit-like nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin nares" EXACT [] synonym: "Thin nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249336003 xref: SNOMEDCT_US:249339005 xref: UMLS:C0426436 xref: UMLS:C0426439 xref: UMLS:C1849366 xref: UMLS:C4280390 is_a: HP:0005288 ! Abnormal nostril morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T10:35:51Z [Term] id: HP:0009934 name: Supernumerary naris def: "The presence of more than two nostrils." [PMID:19152422] subset: hposlim_core synonym: "Accessory nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Accessory nostril" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Extra nostril" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumerary nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumerary nostrils" EXACT [] xref: UMLS:C4021372 is_a: HP:0005288 ! Abnormal nostril morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T10:37:41Z [Term] id: HP:0009935 name: Aplasia/Hypoplasia of the nasal septum def: "Absence or underdevelopment of the nasal septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Ageneis of nasal septum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of nasal septum" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024156 is_a: HP:0000419 ! Abnormal nasal septum morphology is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T10:40:21Z [Term] id: HP:0009936 name: Narrow nasal septum def: "Abnormally narrow nasal septum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased width of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nasal septum" EXACT layperson [] synonym: "Narrow septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024155 is_a: HP:0000419 ! Abnormal nasal septum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T10:46:40Z [Term] id: HP:0009937 name: Facial hirsutism def: "Excess facial hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive face hair" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1850041 xref: UMLS:C2128203 is_a: HP:0009889 ! Localized hirsutism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T10:58:49Z [Term] id: HP:0009938 name: Sunken cheeks def: "Lack or loss of the soft tissues between the zygomata and mandible." [PMID:19125436] subset: hposlim_core synonym: "Depressed cheeks" EXACT layperson [] synonym: "Hollow cheeks" EXACT layperson [] synonym: "Sunken cheeks" EXACT layperson [] xref: UMLS:C4024154 is_a: HP:0004426 ! Abnormal cheek morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T11:17:18Z [Term] id: HP:0009939 name: Mandibular aplasia def: "Absence of the mandible." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of lower jaw" EXACT [] synonym: "Absence of lower jaw bone" EXACT [] synonym: "Absence of lower jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of mandible" EXACT [] synonym: "Absent mandible" EXACT [] synonym: "Agenesis of the mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Agnathia" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of the lower jaw bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:91896009 xref: SNOMEDCT_US:91922000 xref: UMLS:C0685775 xref: UMLS:C0685776 xref: UMLS:C4021371 is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T11:27:14Z [Term] id: HP:0009940 name: Asymmetry of the mandible def: "Lack of symmetry between the left and right mandible." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetry of lower jaw" EXACT layperson [] synonym: "Canted lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Canted mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deviation of lower jaw" EXACT [] synonym: "Deviation of mandible" EXACT [] synonym: "Deviation of the lower jaw" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deviation of the mandible" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Lower jaw shifted to one side" EXACT layperson [] synonym: "Tilted lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tilted mandible" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven mandible" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:235082006 xref: UMLS:C0399518 xref: UMLS:C4082201 is_a: HP:0000277 ! Abnormal mandible morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T11:28:02Z [Term] id: HP:0009941 name: Asymmetry of the mouth def: "The presence of an asymmetric mouth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetry of oral cavity" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of the mouth" EXACT layperson [] synonym: "Canted mouth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tilted mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4024153 is_a: HP:0011338 ! Abnormality of mouth shape property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-05-10T11:30:31Z [Term] id: HP:0009942 name: Duplication of thumb phalanx alt_id: HP:0009661 def: "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0009-0006-4530-3154] synonym: "Complete/partial duplication of phalanges of the thumb" EXACT [] synonym: "Duplicated thumb" RELATED [] synonym: "Duplicated thumbs" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Duplication of phalanx of thumb" EXACT [] xref: UMLS:C4021370 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009997 ! Duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T12:51:02Z [Term] id: HP:0009943 name: Complete duplication of thumb phalanx alt_id: HP:0002801 alt_id: HP:0004067 def: "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the phalanges of the thumb" EXACT [] synonym: "Complete duplication of thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Digitalization of thumb" EXACT [] synonym: "Digitalization of thumbs" EXACT [] xref: UMLS:C3554724 is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0009998 ! Complete duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T12:51:35Z [Term] id: HP:0009944 name: Partial duplication of thumb phalanx alt_id: HP:0001244 alt_id: HP:0004070 def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Bifid thumb" EXACT [] synonym: "Notching of thumb phalanges" EXACT [] synonym: "Partial duplication of the phalanges of the thumb" EXACT [] synonym: "Partial duplication of the thumb bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4082168 is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0009999 ! Partial duplication of the phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T12:51:57Z [Term] id: HP:0009945 name: Duplication of phalanx of 2nd finger def: "This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the bones of index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 2nd finger" EXACT [] xref: UMLS:C4021369 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009946 ! Polydactyly affecting the 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T01:00:37Z [Term] id: HP:0009946 name: Polydactyly affecting the 2nd finger synonym: "Extra index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024152 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0006159 ! Mesoaxial hand polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T01:01:48Z [Term] id: HP:0009947 name: Duplication of the proximal phalanx of the 2nd finger def: "Partial or complete duplication of the second proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the proximal bone of the index finger" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021368 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009948 name: Duplication of the distal phalanx of the 2nd finger alt_id: HP:0004144 def: "Partial or complete duplication of the distal phalanx of index finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial/complete duplication of the distal phalanx of the 2nd finger" EXACT [] synonym: "Partial/complete duplication of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021367 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009945 ! Duplication of phalanx of 2nd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009949 name: Duplication of the middle phalanx of the 2nd finger def: "Partial or complete duplication of the middle phalanx of index finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial/complete duplication of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021366 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009950 name: Complete duplication of the distal phalanx of the 2nd finger def: "Complete duplication of the distal phalanx of index finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024151 is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T02:03:28Z [Term] id: HP:0009951 name: Partial duplication of the distal phalanx of the 2nd finger def: "Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154, PMID:29864040] synonym: "Bifid terminal phalanx of the 2nd finger" EXACT [] synonym: "Notched outermost bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the 2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021365 is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T02:03:28Z [Term] id: HP:0009952 name: Complete duplication of the middle phalanx of the 2nd finger def: "Complete duplication of the middle phalanx of index finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024150 is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T02:05:27Z [Term] id: HP:0009953 name: Partial duplication of the middle phalanx of the 2nd finger def: "Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the middle bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024149 is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T02:05:27Z [Term] id: HP:0009954 name: Complete duplication of the proximal phalanx of the 2nd finger def: "Complete duplication of the second proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the proximal bone of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024148 is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T02:06:11Z [Term] id: HP:0009955 name: Partial duplication of the proximal phalanx of the 2nd finger def: "Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the proximal bones of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024147 is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T02:06:11Z [Term] id: HP:0009956 name: Partial duplication of the phalanges of the 2nd finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of the bones of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024146 is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T02:07:41Z [Term] id: HP:0009957 name: Complete duplication of the phalanges of the 2nd finger def: "A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the bones of the index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024145 is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0009998 ! Complete duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-15T02:08:02Z [Term] id: HP:0009958 name: Polydactyly affecting the 3rd finger synonym: "Extra middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024144 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0006159 ! Mesoaxial hand polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T09:54:29Z [Term] id: HP:0009959 name: Duplication of phalanx of 3rd finger def: "This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of middle finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 3rd finger" EXACT [] xref: UMLS:C4021364 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009958 ! Polydactyly affecting the 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T09:54:51Z [Term] id: HP:0009960 name: Complete duplication of the phalanges of the 3rd finger def: "A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of middle finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024143 is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0009998 ! Complete duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009961 name: Partial duplication of the phalanges of the 3rd finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of middle finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024142 is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009962 name: Duplication of the distal phalanx of the 3rd finger def: "Partial or complete duplication of the distal phalanx of middle finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial/complete duplication of the distal phalanx of the 3rd finger" EXACT [] synonym: "Partial/complete duplication of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021363 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009959 ! Duplication of phalanx of 3rd finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009963 name: Duplication of the middle phalanx of the 3rd finger alt_id: HP:0004157 alt_id: HP:0004174 def: "Partial or complete duplication of the middle phalanx of middle finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021362 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009964 name: Duplication of the proximal phalanx of the 3rd finger def: "Partial or complete duplication of the third proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the proximal bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021361 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009965 name: Complete duplication of the distal phalanx of the 3rd finger def: "Complete duplication of the distal phalanx of middle finger" [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the outermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024141 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009966 name: Complete duplication of the middle phalanx of the 3rd finger def: "Complete duplication of the middle phalanx of middle finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the middle bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024140 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009967 name: Complete duplication of the proximal phalanx of the 3rd finger def: "Complete duplication of the third proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the innermost bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024139 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009968 name: Partial duplication of the distal phalanx of the 3rd finger def: "Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Bifid terminal phalanx of the 3rd finger" EXACT [] synonym: "Notched outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021360 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009969 name: Partial duplication of the middle phalanx of the 3rd finger def: "Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the middle bone of the 3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024138 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009970 name: Partial duplication of the proximal phalanx of the 3rd finger def: "Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the proximal bone of the middle finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024137 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009971 name: Polydactyly affecting the 4th finger synonym: "Extra ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024136 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0006159 ! Mesoaxial hand polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:19:06Z [Term] id: HP:0009972 name: Duplication of phalanx of 4th finger def: "This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of bones of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 4th finger" EXACT [] xref: UMLS:C4021359 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009971 ! Polydactyly affecting the 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:19:28Z [Term] id: HP:0009973 name: Complete duplication of the phalanges of the 4th finger def: "A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the bones of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024135 is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0009998 ! Complete duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009974 name: Partial duplication of the phalanges of the 4th finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of the bones of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024134 is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009975 name: Duplication of the distal phalanx of the 4th finger def: "Partial or complete duplication of the distal phalanx of ring finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial/complete duplication of the distal phalanx of the 4th finger" EXACT [] synonym: "Partial/complete duplication of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021358 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009972 ! Duplication of phalanx of 4th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009976 name: Duplication of the middle phalanx of the 4th finger def: "Partial or complete duplication of the middle phalanx of ring finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial/complete duplication of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 4th finger" EXACT [] xref: UMLS:C4021357 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009977 name: Duplication of the proximal phalanx of the 4th finger def: "Partial or complete duplication of the fourth proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the proximal bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 4th finger" EXACT [] xref: UMLS:C4021356 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009978 name: Complete duplication of the distal phalanx of the 4th finger def: "Complete duplication of the distal phalanx of ring finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024133 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009979 name: Complete duplication of the middle phalanx of the 4th finger def: "Complete duplication of the middle phalanx of ring finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024132 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009980 name: Complete duplication of the proximal phalanx of the 4th finger def: "Complete duplication of the fourth proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the proximal bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024131 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009981 name: Partial duplication of the distal phalanx of the 4th finger def: "Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Bifid terminal phalanx of the 4th finger" EXACT [] synonym: "Notched outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021355 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009982 name: Partial duplication of the middle phalanx of the 4th finger def: "Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the middle bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024130 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009983 name: Partial duplication of the proximal phalanx of the 4th finger def: "Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the innermost bone of the ring finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024129 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009985 name: Duplication of phalanx of 5th finger def: "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial/complete duplication of little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 5th finger" EXACT [] synonym: "Partial/complete duplication of pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021354 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009997 ! Duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:23:38Z [Term] id: HP:0009986 name: Complete duplication of the phalanges of the 5th finger def: "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024128 is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0009998 ! Complete duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009987 name: Partial duplication of the phalanges of the 5th finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of the little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024127 is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009988 name: Duplication of the distal phalanx of the 5th finger def: "Partial or complete duplication of the distal phalanx of little finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021353 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009985 ! Duplication of phalanx of 5th finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009989 name: Duplication of the middle phalanx of the 5th finger def: "Partial or complete duplication of the fifth middle phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 5th finger" EXACT [] xref: UMLS:C4021352 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009990 name: Duplication of the proximal phalanx of the 5th finger def: "Partial or complete duplication of the fifth proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021351 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009991 name: Complete duplication of the distal phalanx of the 5th finger def: "Complete duplication of the distal phalanx of little finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024126 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009992 name: Complete duplication of the middle phalanx of the 5th finger def: "Complete duplication of the fifth middle phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024125 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009993 name: Complete duplication of the proximal phalanx of the 5th finger def: "Complete duplication of the fifth proximal phalanx of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024124 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009994 name: Partial duplication of the distal phalanx of the 5th finger def: "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Bifid terminal phalanx of the 5th finger" EXACT [] synonym: "Notched outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of outermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of outermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of outermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021350 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009995 name: Partial duplication of the middle phalanx of the 5th finger def: "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the middle little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the middle pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the middle pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024123 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009996 name: Partial duplication of the proximal phalanx of the 5th finger def: "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the innermost little finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the innermost pinkie finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the innermost pinky finger bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024122 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009997 name: Duplication of phalanx of hand alt_id: HP:0009143 def: "This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of finger bones" EXACT layperson [] xref: UMLS:C4021349 is_a: HP:0004275 ! Duplication of hand bones is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:28:25Z [Term] id: HP:0009998 name: Complete duplication of phalanx of hand def: "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024121 is_a: HP:0009997 ! Duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:30:16Z [Term] id: HP:0009999 name: Partial duplication of the phalanx of hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024120 is_a: HP:0009997 ! Duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T02:30:35Z [Term] id: HP:0010000 name: Complete duplication of the proximal phalanges of the hand def: "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the innermost bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024119 is_a: HP:0009998 ! Complete duplication of phalanx of hand is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010001 name: Complete duplication of the distal phalanges of the hand def: "A complete duplication affecting one or more of the distal phalanges of the hand." [https://orcid.org/0009-0006-4530-3154] comment: As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism. synonym: "Complete duplication of the outermost bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024118 is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009998 ! Complete duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010002 name: Complete duplication of the middle phalanges of the hand def: "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism." [https://orcid.org/0009-0006-4530-3154] synonym: "Complete duplication of the middle bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024117 is_a: HP:0009998 ! Complete duplication of phalanx of hand is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010003 name: Partial duplication of the proximal phalanges of the hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of the innermost bones of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024116 is_a: HP:0009999 ! Partial duplication of the phalanx of hand is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010004 name: Partial duplication of the distal phalanges of the hand alt_id: HP:0006196 def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Bifid terminal phalanges of the hand" EXACT [] synonym: "Partial duplication of the outermost bone of the hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021348 is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009999 ! Partial duplication of the phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010005 name: Partial duplication of the middle phalanges of the hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of the middle bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024115 is_a: HP:0009999 ! Partial duplication of the phalanx of hand is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010006 name: Duplication of the proximal phalanx of hand def: "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of the innermost bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanges of the hand" EXACT [] xref: UMLS:C4021347 is_a: HP:0009997 ! Duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T05:29:46Z [Term] id: HP:0010008 name: Duplication of the middle phalanx of hand def: "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of the middle bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanges of the hand" EXACT [] xref: UMLS:C4021346 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand is_a: HP:0009997 ! Duplication of phalanx of hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-26T05:29:46Z [Term] id: HP:0010009 name: Abnormal 1st metacarpal morphology def: "A structural anomaly of the first metacarpal." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. synonym: "Abnormality of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the 1st metacarpal" EXACT [] xref: UMLS:C4024114 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010010 name: Abnormal 2nd metacarpal morphology def: "Any abnormality of the second metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the 2nd metacarpal" EXACT [] xref: UMLS:C4024113 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010011 name: Abnormal 3rd metacarpal morphology def: "Any abnormality of the third metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the 3rd metacarpal" EXACT [] xref: UMLS:C4024112 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010012 name: Abnormal 4th metacarpal morphology def: "Any abnormality of the fourth metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the 4th metacarpal" EXACT [] xref: UMLS:C4024111 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010013 name: Abnormal 5th metacarpal morphology def: "Any abnormality of the fifth metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the 5th metacarpal" EXACT [] xref: UMLS:C4024110 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010014 name: Abnormality of the epiphysis of the 1st metacarpal def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024109 is_a: HP:0005913 ! Abnormal metacarpal epiphysis morphology is_a: HP:0010009 ! Abnormal 1st metacarpal morphology is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T03:43:11Z [Term] id: HP:0010015 name: Absent epiphysis of the 1st metacarpal synonym: "Absent end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024108 is_a: HP:0009196 ! Absent metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010016 name: Bracket epiphysis of the 1st metacarpal def: "An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate." [https://orcid.org/0000-0002-0736-9199, PMID:24432108] synonym: "Bracket shaped end part of 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024107 is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand is_a: HP:0200050 ! Bracket metacarpal epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010017 name: Cone-shaped epiphysis of the 1st metacarpal def: "A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024106 is_a: HP:0006059 ! Cone-shaped metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010018 name: Enlarged epiphysis of the 1st metacarpal def: "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024105 is_a: HP:0006134 ! Enlarged metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010019 name: Fragmentation of the epiphysis of the 1st metacarpal def: "Epiphysis of the 1st metacarpal having multiple bony fragments." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of the end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024104 is_a: HP:0009189 ! Fragmentation of the metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010020 name: Irregular epiphysis of the 1st metacarpal def: "Uneven radiographic opacity of the epiphysis of the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024103 is_a: HP:0009190 ! Irregular epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010021 name: Ivory epiphysis of the 1st metacarpal def: "The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024102 is_a: HP:0009191 ! Ivory epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010022 name: Pseudoepiphysis of the 1st metacarpal def: "The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be seen for example in Holt-Oram Syndrome. xref: UMLS:C4024101 is_a: HP:0009193 ! Metacarpal pseudoepiphysis is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010023 name: Small epiphysis of the 1st metacarpal def: "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024100 is_a: HP:0009194 ! Small epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010024 name: Epiphyseal stippling of the first metacarpal def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in the end part of the first long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stippling of the epiphysis of the 1st metacarpal" EXACT [] xref: UMLS:C4021345 is_a: HP:0009195 ! Epiphyseal stippling of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010025 name: Triangular epiphysis of the 1st metacarpal synonym: "Triangular end part of the 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024099 is_a: HP:0009171 ! Triangular epiphyses of the metacarpals is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010026 name: Aplasia/Hypoplasia of the 1st metacarpal def: "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024098 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0010009 ! Abnormal 1st metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010027 name: Broad 1st metacarpal def: "Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024097 is_a: HP:0001230 ! Broad metacarpals is_a: HP:0009852 ! Broad proximal phalanges of the hand is_a: HP:0010009 ! Abnormal 1st metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010028 name: Bullet-shaped 1st metacarpal def: "The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\")." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024096 is_a: HP:0010009 ! Abnormal 1st metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010029 name: Curved 1st metacarpal def: "A deviation from the normal straight shape of the first metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024095 is_a: HP:0010009 ! Abnormal 1st metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010030 name: Osteolytic defects of the 1st metacarpal def: "Dissolution or degeneration of bone tissue of the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199] comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). xref: UMLS:C4024094 is_a: HP:0001504 ! Metacarpal osteolysis is_a: HP:0010009 ! Abnormal 1st metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010031 name: Patchy sclerosis of the 1st metacarpal def: "Uneven increase in bone density within the 1st metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Uneven increase in bone density in 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024093 is_a: HP:0010009 ! Abnormal 1st metacarpal morphology is_a: HP:0100914 ! Sclerosis of the 1st metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010033 name: Triangular shaped 1st metacarpal def: "This term applies to a triangular shaped 1st metacarpal." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). synonym: "Triangular shaped 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024092 is_a: HP:0010009 ! Abnormal 1st metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010034 name: Short 1st metacarpal alt_id: HP:0001190 alt_id: HP:0001499 alt_id: HP:0005898 alt_id: HP:0006141 def: "A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="https://orcid.org/0000-0002-0736-9199"} subset: hposlim_core synonym: "First metacarpal hypoplasia" EXACT [] synonym: "First metacarpals hypoplastic" EXACT [] synonym: "Hypoplastic 1st metacarpal" EXACT [] synonym: "Short first metacarpal" EXACT [] synonym: "Short first metacarpals" EXACT [] synonym: "Shortened 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849311 is_a: HP:0009660 ! Short phalanx of the thumb is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal is_a: HP:0010049 ! Short metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:24:50Z [Term] id: HP:0010035 name: Aplasia of the 1st metacarpal alt_id: HP:0006027 def: "Absent first metacarpal (long bone) of the hand." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="https://orcid.org/0000-0002-0736-9199"} synonym: "Absent 1st long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent first metacarpal" EXACT [] xref: UMLS:C1838610 is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:25:14Z [Term] id: HP:0010036 name: Aplasia/Hypoplasia of the 2nd metacarpal def: "Aplasia or Hypoplasia affecting the 2nd metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024091 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010010 ! Abnormal 2nd metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:34:44Z [Term] id: HP:0010037 name: Aplasia of the 2nd metacarpal def: "Absence of the second long bone of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024090 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:35:04Z [Term] id: HP:0010038 name: Short 2nd metacarpal alt_id: HP:0006231 def: "Short second metacarpal bone because of developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic 2nd metacarpal" RELATED [] synonym: "Rudimentary 2nd metacarpal" EXACT [] synonym: "Shortened 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1969397 xref: UMLS:C4020774 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal is_a: HP:0010049 ! Short metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:35:04Z [Term] id: HP:0010039 name: Aplasia/Hypoplasia of the 3rd metacarpal def: "Aplasia or Hypoplasia affecting the 3rd metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024089 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010011 ! Abnormal 3rd metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:35:51Z [Term] id: HP:0010040 name: Aplasia of the 3rd metacarpal def: "Absence of the third long bone of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024088 is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:36:08Z [Term] id: HP:0010041 name: Short 3rd metacarpal alt_id: HP:0005624 alt_id: HP:0006074 alt_id: HP:0006120 def: "Short third metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic 3rd metacarpal" EXACT [] synonym: "Short third metacarpals" EXACT [] synonym: "Shortened 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small 3rd metacarpals" EXACT [] xref: UMLS:C1850631 is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal is_a: HP:0010049 ! Short metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:36:08Z [Term] id: HP:0010042 name: Aplasia/Hypoplasia of the 4th metacarpal def: "Aplasia or Hypoplasia affecting the 4th metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024087 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010012 ! Abnormal 4th metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:36:49Z [Term] id: HP:0010043 name: Aplasia of the 4th metacarpal def: "Absence of the fourth long bone of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024086 is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:37:00Z [Term] id: HP:0010044 name: Short 4th metacarpal alt_id: HP:0005094 def: "Short fourth metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic fourth metacarpal" EXACT [] synonym: "Short 4th metacarpals" EXACT [] synonym: "Short fourth metacarpals" EXACT [] synonym: "Shortened 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1840309 is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010049 ! Short metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:37:00Z [Term] id: HP:0010045 name: Aplasia/Hypoplasia of the 5th metacarpal def: "Aplasia or Hypoplasia affecting the 5th metacarpal." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024085 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010013 ! Abnormal 5th metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:37:31Z [Term] id: HP:0010046 name: Aplasia of the 5th metacarpal alt_id: HP:0006103 def: "Absence of the fifth long bone of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent 5th metacarpal" EXACT [] xref: UMLS:C1867929 is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:37:44Z [Term] id: HP:0010047 name: Short 5th metacarpal alt_id: HP:0005737 alt_id: HP:0006004 alt_id: HP:0006222 def: "Short fifth metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Fifth metacarpal hypoplasia" EXACT [] synonym: "Hypoplastic 5th metacarpal" EXACT [] synonym: "Short fifth metacarpal" EXACT [] synonym: "Short fifth metacarpals" EXACT [] synonym: "Shortened 5th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861388 is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal is_a: HP:0010049 ! Short metacarpal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:37:44Z [Term] id: HP:0010048 name: Aplasia of metacarpal bones alt_id: HP:0005911 def: "Developmental defect associated with absence of one or more metacarpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent metacarpal" EXACT [] synonym: "Absent metacarpals" EXACT [] xref: UMLS:C1846473 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:40:58Z [Term] id: HP:0010049 name: Short metacarpal alt_id: HP:0001164 alt_id: HP:0005695 alt_id: HP:0005717 alt_id: HP:0005909 alt_id: HP:0006047 alt_id: HP:0006183 alt_id: HP:0006186 def: "Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." [PMID:19125433] comment: Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. subset: hposlim_core synonym: "Brachymetacarpalia" EXACT [] synonym: "Hypoplastic metacarpal" EXACT [] synonym: "Metacarpal hypoplasia" EXACT [] synonym: "Short metacarpal bones" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Short metacarpals" EXACT [] synonym: "Shortened long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Shortened long bones of hand" EXACT [] synonym: "Shortened metacarpals" EXACT [] synonym: "Shortening of metacarpals" EXACT [] xref: UMLS:C1837084 is_a: HP:0003026 ! Short long bone is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-27T04:40:58Z [Term] id: HP:0010051 name: Deviation of the hallux alt_id: HP:0004700 def: "Displacement of the big toe from its normal position." [https://orcid.org/0000-0002-0736-9199] synonym: "Displacement of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Displacement of the hallux" EXACT [] xref: UMLS:C4021344 is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0100498 ! Deviation of toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T11:36:44Z [Term] id: HP:0010052 name: Abnormal morphology of the proximal phalanx of the hallux def: "An abnormal shape or form of the proximal phalanx of the big toe." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. synonym: "Abnormal innermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanx of the hallux" EXACT [] xref: UMLS:C4024084 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T11:47:46Z [Term] id: HP:0010053 name: Abnormality of the distal phalanx of the hallux synonym: "Abnormality of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024083 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T11:49:11Z [Term] id: HP:0010054 name: Abnormality of the first metatarsal bone def: "An anomaly of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] comment: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal. synonym: "Abnormality of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024082 is_a: HP:0001832 ! Abnormal metatarsal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T11:49:54Z [Term] id: HP:0010055 name: Broad hallux alt_id: HP:0001834 alt_id: HP:0003094 alt_id: HP:0004710 alt_id: HP:0005883 def: "Visible increase in width of the hallux without an increase in the dorso-ventral dimension." [PMID:19125433] comment: Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. subset: hposlim_core synonym: "Abnormally broad great toes" EXACT [] synonym: "Broad big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad great toe" EXACT [] synonym: "Broad great toes" EXACT [] synonym: "Broad halluces" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Wide big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1867131 is_a: HP:0001837 ! Broad toe is_a: HP:0001844 ! Abnormal hallux morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T11:56:24Z [Term] id: HP:0010056 name: Abnormality of the epiphyses of the hallux synonym: "Abnormality of the end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024081 is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0010160 ! Abnormal toe epiphysis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:00:08Z [Term] id: HP:0010057 name: Abnormal hallux phalanx morphology synonym: "Abnormal big toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the phalanges of the hallux" EXACT [] xref: UMLS:C4024080 is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:00:08Z [Term] id: HP:0010058 name: Aplasia/Hypoplasia of the phalanges of the hallux synonym: "Absent/small big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024079 is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010059 name: Broad hallux phalanx def: "An increase in width in one or more phalanges of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad phalanges of the hallux" EXACT [] synonym: "Wide bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021343 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010174 ! Broad phalanx of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010060 name: Bullet-shaped hallux phalanx def: "An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the hallux" EXACT [] xref: UMLS:C4021342 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010175 ! Bullet-shaped toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010061 name: Curved hallux phalanx def: "A deviation from the normal straight form of one or more phalanges of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curve bones of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved phalanges of the hallux" EXACT [] xref: UMLS:C4021341 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010176 ! Curved toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010062 name: Osteolytic defects of the phalanges of the hallux xref: UMLS:C4024078 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010063 name: Patchy sclerosis of hallux phalanx def: "Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the hallux" EXACT [] synonym: "Uneven increase in bone density in big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021340 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100930 ! Sclerosis of hallux phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010064 name: Symphalangism affecting the phalanges of the hallux alt_id: HP:0004687 synonym: "Fused big toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "hallucal symphalangism" EXACT [] xref: UMLS:C1836216 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010065 name: Triangular shaped phalanges of the hallux synonym: "Triangular shaped bones of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024077 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010180 ! Triangular shaped phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010066 name: Duplication of phalanx of hallux alt_id: HP:0001784 alt_id: HP:0005785 alt_id: HP:0005851 def: "Partial or complete duplication of one or more phalanx of big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplicated hallux" EXACT [] synonym: "Duplication of big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of great toes" EXACT layperson [] synonym: "Duplication of phalanx of big toe" EXACT [] synonym: "Hallucal duplication" EXACT [] synonym: "Partial/complete duplication of the phalanges of the hallux" NARROW [] xref: UMLS:C1860164 xref: UMLS:C4020691 is_a: HP:0010057 ! Abnormal hallux phalanx morphology is_a: HP:0010181 ! Duplication of phalanx of toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010067 name: Aplasia/hypoplasia of the 1st metatarsal def: "Absence or underdevelopment of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024076 is_a: HP:0010054 ! Abnormality of the first metatarsal bone property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010068 name: Broad first metatarsal alt_id: HP:0004709 alt_id: HP:0008085 alt_id: HP:0008139 def: "Increased side-to-side width of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad 1st metatarsal" EXACT [] synonym: "Enlarged first metatarsal" EXACT [] synonym: "Wide 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855899 is_a: HP:0001783 ! Broad metatarsal is_a: HP:0010054 ! Abnormality of the first metatarsal bone property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010069 name: Bullet-shaped 1st metatarsal def: "An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024075 is_a: HP:0010054 ! Abnormality of the first metatarsal bone property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010070 name: Curved 1st metatarsal def: "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024074 is_a: HP:0010054 ! Abnormality of the first metatarsal bone property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010071 name: Osteolytic defects of the 1st metatarsal def: "Dissolution or degeneration of bone tissue of the first metatarsal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4024073 is_a: HP:0001473 ! Metatarsal osteolysis is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010072 name: Patchy sclerosis of the 1st metatarsal synonym: "Uneven increase in bone density of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024072 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0100945 ! Sclerosis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010073 name: Synostosis involving the 1st metatarsal synonym: "Fusion involving the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024071 is_a: HP:0010054 ! Abnormality of the first metatarsal bone property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010074 name: Triangular shaped 1st metatarsal synonym: "Triangular shaped 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024070 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010065 ! Triangular shaped phalanges of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010075 name: Duplication of the 1st metatarsal def: "A developmental defect consisting in the duplication of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplicated 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplicated first metatarsals" EXACT [] xref: UMLS:C1851855 is_a: HP:0001449 ! Duplication of metatarsal bones is_a: HP:0010054 ! Abnormality of the first metatarsal bone property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010076 name: Aplasia/Hypoplasia of the distal phalanx of the hallux synonym: "Absent/small outermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024069 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010077 name: Broad distal phalanx of the hallux def: "An increase in width of the distal phalanx of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024068 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010059 ! Broad hallux phalanx is_a: HP:0010186 ! Broad distal phalanx of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010078 name: Bullet-shaped distal phalanx of the hallux def: "An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024067 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped hallux phalanx is_a: HP:0010187 ! Bullet-shaped distal toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010079 name: Curved distal phalanx of the hallux def: "A deviation from the normal straight form of the distal phalanx of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024066 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010061 ! Curved hallux phalanx is_a: HP:0010188 ! Curved distal toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010080 name: Osteolytic defects of the distal phalanx of the hallux xref: UMLS:C4024065 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010081 name: Patchy sclerosis of the distal phalanx of the hallux synonym: "Uneven increase in bone density in the outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024064 is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0100944 ! Sclerosis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010082 name: Symphalangism affecting the distal phalanx of the hallux synonym: "Fused outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024063 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux is_a: HP:0010191 ! Symphalangism affecting the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010083 name: Triangular shaped distal phalanx of the hallux synonym: "Triangular shaped outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024062 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010065 ! Triangular shaped phalanges of the hallux is_a: HP:0010192 ! Triangular shaped distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010084 name: Duplication of the distal phalanx of the hallux synonym: "Duplication of the outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the hallux" EXACT [] xref: UMLS:C4021339 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010066 ! Duplication of phalanx of hallux is_a: HP:0010193 ! Duplication of distal phalanx of toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010085 name: Aplasia/Hypoplasia of the proximal phalanx of the hallux synonym: "Absent/small innermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024061 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010086 name: Broad proximal phalanx of the hallux def: "Increased width of proximal phalanx of big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad proximal phalanx of the big toe" EXACT [] xref: UMLS:C4021338 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010059 ! Broad hallux phalanx is_a: HP:0010204 ! Broad proximal phalanx of toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010087 name: Bullet-shaped proximal phalanx of the hallux def: "An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024060 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped hallux phalanx is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010088 name: Curved proximal phalanx of the hallux def: "A deviation from the normal straight form of the proximal phalanx of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024059 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010061 ! Curved hallux phalanx is_a: HP:0010206 ! Curved proximal toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010089 name: Osteolytic defects of the proximal phalanx of the hallux xref: UMLS:C4024058 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux is_a: HP:0010198 ! Osteolytic defects of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010090 name: Patchy sclerosis of the proximal phalanx of the hallux synonym: "Uneven increase in bone density in the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024057 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0100943 ! Sclerosis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010091 name: Symphalangism affecting the proximal phalanx of the hallux synonym: "Fused innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024056 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010064 ! Symphalangism affecting the phalanges of the hallux is_a: HP:0010200 ! Symphalangism affecting the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010092 name: Triangular shaped proximal phalanx of the hallux synonym: "Triangular shaped innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024055 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010065 ! Triangular shaped phalanges of the hallux is_a: HP:0010201 ! Triangular shaped middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010093 name: Duplication of the proximal phalanx of the hallux def: "Partial or complete duplication of the proximal phalanx of big toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of the innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024054 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010066 ! Duplication of phalanx of hallux is_a: HP:0010202 ! Duplication of middle phalanx of toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010094 name: Complete duplication of the proximal phalanx of the hallux def: "Complete duplication of the proximal phalanx of big toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Complete duplication of the innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024053 is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of hallux phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010095 name: Partial duplication of the proximal phalanx of the hallux def: "Partial duplication of the proximal phalanx of big toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024052 is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010096 name: Complete duplication of the distal phalanx of the hallux synonym: "Complete duplication of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024051 is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of hallux phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:19:30Z [Term] id: HP:0010097 name: Partial duplication of the distal phalanx of the hallux alt_id: HP:0008091 synonym: "Bifid distal phalanx of hallux" EXACT [] synonym: "Notched outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021337 is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:19:30Z [Term] id: HP:0010098 name: Complete duplication of the 1st metatarsal alt_id: HP:0008121 def: "A developmental defect consisting in the complete duplication of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024050 is_a: HP:0010075 ! Duplication of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:20:12Z [Term] id: HP:0010099 name: Partial duplication of the 1st metatarsal def: "A developmental defect consisting in the duplication of part of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024049 is_a: HP:0010075 ! Duplication of the 1st metatarsal is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:20:12Z [Term] id: HP:0010100 name: Complete duplication of hallux phalanx def: "Complete duplication of one or more phalanx of big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of big toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the phalanges of the hallux" EXACT [] xref: UMLS:C4021336 is_a: HP:0010066 ! Duplication of phalanx of hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010101 name: Partial duplication of the phalanges of the hallux alt_id: HP:0004678 synonym: "Partial duplication of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "partial duplication of hallux" EXACT [] xref: UMLS:C1855005 is_a: HP:0010066 ! Duplication of phalanx of hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010102 name: Aplasia of the distal phalanx of the hallux synonym: "Absent outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024048 is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010110 ! Aplasia of the phalanges of the hallux is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:41:37Z [Term] id: HP:0010103 name: Short distal phalanx of hallux def: "Underdevelopment (hypoplasia) of the distal phalanx of big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic/small distal phalanx of the hallux" EXACT [] synonym: "Small distal phalanx of big toe" EXACT [] synonym: "Small distal phalanx of hallux" EXACT [] synonym: "Small outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021335 is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010111 ! Short phalanx of hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:41:37Z [Term] id: HP:0010104 name: Absent first metatarsal alt_id: HP:0006124 def: "A developmental defect characterized by the absence of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent 1st metatarsal" EXACT [] synonym: "Aplasia of the 1st metatarsal" EXACT [] xref: UMLS:C1863382 is_a: HP:0010067 ! Aplasia/hypoplasia of the 1st metatarsal is_a: HP:0010744 ! Absent metatarsal bone property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010105 name: Short first metatarsal alt_id: HP:0004680 def: "Short first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "First metatarsal hypoplasia" EXACT [] synonym: "First metatarsals hypoplastic" EXACT [] synonym: "Short 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1841688 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010743 ! Short metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010106 name: Aplasia of the proximal phalanx of the hallux synonym: "Absent innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024047 is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010110 ! Aplasia of the phalanges of the hallux is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:43:40Z [Term] id: HP:0010107 name: Short proximal phalanx of hallux alt_id: HP:0008101 alt_id: HP:0008129 def: "Underdevelopment (hypoplasia) of the proximal phalanx of big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic proximal phalanx of the hallux" EXACT [] synonym: "Short innermost big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short proximal phalanges of halluces" EXACT [] synonym: "Short proximal phalanx of halluces" EXACT [] synonym: "Small proximal phalanx of big toe" EXACT [] synonym: "Small proximal phalanx of hallux" EXACT [] xref: UMLS:C1862159 is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010111 ! Short phalanx of hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:43:40Z [Term] id: HP:0010109 name: Short hallux alt_id: HP:0001843 alt_id: HP:0001861 alt_id: HP:0005610 alt_id: HP:0008105 def: "Underdevelopment (hypoplasia) of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic big toes" EXACT [] synonym: "Hypoplastic hallux" EXACT [] synonym: "Short big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short halluces" EXACT [] synonym: "Small hallux" EXACT [] xref: UMLS:C1865992 is_a: HP:0001831 ! Short toe is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:46:14Z [Term] id: HP:0010110 name: Aplasia of the phalanges of the hallux synonym: "Absent bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024046 is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010745 ! Aplasia of the phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:49:19Z [Term] id: HP:0010111 name: Short phalanx of hallux def: "Underdevelopment (hypoplasia) of a phalanx of big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic phalanges of the hallux" EXACT layperson [] synonym: "Short bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021334 is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010109 ! Short hallux is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T12:49:19Z [Term] id: HP:0010112 name: Mesoaxial foot polydactyly def: "The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Central polydactyly of feet" EXACT layperson [] xref: UMLS:C4021333 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0100260 ! Mesoaxial polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:11:06Z [Term] id: HP:0010113 name: Absent hallux epiphysis def: "Failure to form (agenesis) of one or more epiphyses of the big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent epiphyses of the hallux" EXACT [] xref: UMLS:C4020906 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010162 ! Absent epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010114 name: Bracket epiphyses of the hallux synonym: "Bracket shaped end part of big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024045 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010163 ! Bracket epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010115 name: Cone-shaped epiphyses of the hallux synonym: "Cone-shaped end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024044 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010164 ! Cone-shaped epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010116 name: Enlarged epiphyses of the hallux synonym: "Enlarged end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024043 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010165 ! Enlarged epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010117 name: Fragmentation of the epiphyses of the hallux synonym: "Fragmentation of the end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024042 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010118 name: Irregular epiphyses of the hallux synonym: "Irregular end part of big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024041 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010167 ! Irregular epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010119 name: Ivory epiphyses of the hallux synonym: "Increased bone density of end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024040 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010168 ! Ivory epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010120 name: Pseudoepiphyses of the hallux xref: UMLS:C4024039 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010169 ! Pseudoepiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010121 name: Small epiphyses of the hallux synonym: "Small end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024038 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010170 ! Small epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010122 name: Stippling of the epiphyses of the hallux def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in the end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024037 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010123 name: Triangular epiphyses of the hallux synonym: "Triangular end part of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024036 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010172 ! Triangular epiphyses of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010124 name: Abnormality of the epiphysis of the distal phalanx of the hallux synonym: "Abnormality of the end part of the outermost bone of the big toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024035 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010125 name: Abnormality of the epiphysis of the 1st metatarsal def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024034 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010126 name: Abnormality of the epiphysis of the proximal phalanx of the hallux def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024033 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010127 name: Absent epiphysis of the proximal phalanx of the hallux def: "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024032 is_a: HP:0010113 ! Absent hallux epiphysis is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010128 name: Bracket epiphysis of the proximal phalanx of the hallux def: "The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the innermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024031 is_a: HP:0010114 ! Bracket epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010129 name: Cone-shaped epiphysis of the proximal phalanx of the hallux synonym: "Cone-shaped end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024030 is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010130 name: Enlarged epiphysis of the proximal phalanx of the hallux synonym: "Enlarged end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024029 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010131 name: Fragmentation of the epiphysis of the proximal phalanx of the hallux synonym: "Fragmentation of the end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024028 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010132 name: Irregular epiphysis of the proximal phalanx of the hallux synonym: "Irregular end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024027 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010133 name: Ivory epiphysis of the proximal phalanx of the hallux synonym: "Increased bone density of end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024026 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010134 name: Pseudoepiphysis of the proximal phalanx of the hallux def: "A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe." [] xref: UMLS:C4024025 is_a: HP:0010120 ! Pseudoepiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010135 name: Small epiphysis of the proximal phalanx of the hallux synonym: "Small end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024024 is_a: HP:0010121 ! Small epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010136 name: Stippling of the epiphysis of the proximal phalanx of the hallux def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in the end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024023 is_a: HP:0010122 ! Stippling of the epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010137 name: Triangular epiphysis of the proximal phalanx of the hallux synonym: "Triangular end part of the innermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024022 is_a: HP:0010123 ! Triangular epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010138 name: Absent epiphysis of the distal phalanx of the hallux def: "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024021 is_a: HP:0010113 ! Absent hallux epiphysis is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010139 name: Bracket epiphysis of the distal phalanx of the hallux def: "The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of the outermost bone of big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024020 is_a: HP:0010114 ! Bracket epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010140 name: Cone-shaped epiphysis of the distal phalanx of the hallux synonym: "Cone-shaped end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024019 is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010141 name: Enlarged epiphysis of the distal phalanx of the hallux synonym: "Enlarged end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024018 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010142 name: Fragmentation of the epiphysis of the distal phalanx of the hallux synonym: "Fragmentation of the end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024017 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010143 name: Irregular epiphysis of the distal phalanx of the hallux synonym: "Irregular end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024016 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010144 name: Ivory epiphysis of the distal phalanx of the hallux synonym: "Increased bone density of end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024015 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010145 name: Pseudoepiphysis of the distal phalanx of the hallux xref: UMLS:C4024014 is_a: HP:0010120 ! Pseudoepiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010146 name: Small epiphysis of the distal phalanx of the hallux synonym: "Small end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024013 is_a: HP:0010121 ! Small epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010147 name: Stippling of the epiphysis of the distal phalanx of the hallux def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in the end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024012 is_a: HP:0010122 ! Stippling of the epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010148 name: Triangular epiphysis of the distal phalanx of the hallux synonym: "Triangular end part of the outermost bone of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024011 is_a: HP:0010123 ! Triangular epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010149 name: Absent epiphysis of the 1st metatarsal def: "Failure to form (agenesis) of the epiphysis of the 1st metatarsal." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024010 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010150 name: Bracket epiphysis of the 1st metatarsal def: "The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form." [https://orcid.org/0000-0002-0736-9199] synonym: "Bracket shaped end part of 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024009 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010151 name: Cone-shaped epiphysis of the 1st metatarsal def: "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024008 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal is_a: HP:0010630 ! Abnormal metatarsal epiphysis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010152 name: Enlarged epiphysis of the 1st metatarsal synonym: "Enlarged end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024007 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010153 name: Fragmentation of the epiphysis of the 1st metatarsal synonym: "Fragmentation of the end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024006 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010154 name: Irregular epiphysis of the 1st metatarsal synonym: "Irregular end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024005 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010155 name: Ivory epiphysis of the 1st metatarsal def: "The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024004 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010156 name: Pseudoepiphysis of the 1st metatarsal xref: UMLS:C4024003 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010157 name: Small epiphysis of the 1st metatarsal synonym: "Small end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024002 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010158 name: Stippling of the epiphysis of the 1st metatarsal synonym: "Speckled calcifications in the end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024001 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010159 name: Triangular epiphysis of the 1st metatarsal synonym: "Triangular end part of the 1st long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024000 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010160 name: Abnormal toe epiphysis morphology synonym: "Abnormality of the end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the epiphyses of the toes" EXACT [] xref: UMLS:C4023999 is_a: HP:0001780 ! Abnormal toe morphology is_a: HP:0010631 ! Abnormality of the epiphyses of the feet property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:30:42Z [Term] id: HP:0010161 name: Abnormal toe phalanx morphology synonym: "Abnormality of the long bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the phalanges of the toes" EXACT [] xref: UMLS:C4023998 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:31:17Z [Term] id: HP:0010162 name: Absent epiphyses of the toes def: "Absence of the epiphyses of the phalanges of the toes." [https://orcid.org/0009-0006-4530-3154] synonym: "Absent end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023997 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010577 ! Absent epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010163 name: Bracket epiphyses of the toes synonym: "Bracket shaped end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023996 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010578 ! Bracket epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010164 name: Cone-shaped epiphyses of the toes synonym: "Cone-shaped end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023995 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0034281 ! Phalangeal cone-shaped epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010165 name: Enlarged epiphyses of the toes synonym: "Enlarged end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023994 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010580 ! Enlarged epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010166 name: Fragmentation of the epiphyses of the toes synonym: "Fragmentation of the end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023993 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0100168 ! Fragmented epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010167 name: Irregular epiphyses of the toes synonym: "Irregular end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023992 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010582 ! Irregular epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010168 name: Ivory epiphyses of the toes synonym: "Increased bone density of end part of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023991 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010583 ! Ivory epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010169 name: Pseudoepiphyses of the toes xref: UMLS:C4023990 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010584 ! Pseudoepiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010170 name: Small epiphyses of the toes synonym: "Small end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023989 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010585 ! Small epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010171 name: Epiphyseal stippling of toe phalanges def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in long toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the toes" EXACT [] xref: UMLS:C4021332 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010655 ! Epiphyseal stippling property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010172 name: Triangular epiphyses of the toes synonym: "Triangular end part of the toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023988 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010587 ! Triangular epiphysis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010173 name: Aplasia/Hypoplasia of the phalanges of the toes synonym: "Absent/small toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023987 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010174 name: Broad phalanx of the toes def: "Increased width of phalanx of one or more toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Wide toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023986 is_a: HP:0006009 ! Broad phalanx is_a: HP:0010161 ! Abnormal toe phalanx morphology is_a: HP:0040069 ! Abnormal lower limb bone morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010175 name: Bullet-shaped toe phalanx def: "An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped phalanges of the toes" EXACT layperson [] synonym: "Bullet-shaped toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021331 is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010176 name: Curved toe phalanx def: "A deviation from the normal straight form of one or more toe phalanges." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved phalanges of the toes" EXACT [] synonym: "Curved toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021330 is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010177 name: Osteolytic defects of the phalanges of the toes xref: UMLS:C4023985 is_a: HP:0009134 ! Osteolysis involving bones of the feet is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010178 name: Patchy sclerosis of toe phalanx def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the toes" EXACT [] synonym: "Uneven increase in bone density in toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021329 is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0100924 ! Sclerosis of toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010179 name: Symphalangism affecting the phalanges of the toes synonym: "Fused toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023984 is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010180 name: Triangular shaped phalanges of the toes synonym: "Triangular shaped toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023983 is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010181 name: Duplication of phalanx of toe def: "Partial/complete duplication of one or more phalanx of toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplicated toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the phalanges of the toes" EXACT [] xref: UMLS:C4021328 is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010182 name: Abnormality of the distal phalanges of the toes synonym: "Abnormality of the outermost bone of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023982 is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010183 name: Abnormality of the middle phalanges of the toes synonym: "Abnormal middle bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023981 is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010184 name: Abnormality of toe proximal phalanx def: "A morphological anomaly of one or more proximal phalanges of one or more toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021327 is_a: HP:0010161 ! Abnormal toe phalanx morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010185 name: Aplasia/Hypoplasia of the distal phalanges of the toes alt_id: HP:0005735 alt_id: HP:0005818 def: "Absence or underdevelopment of the distal phalanges of the toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic terminal phalanges of toes" EXACT [] synonym: "Absent/small outermost bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplasia/agenesis of distal phalanges of toes" RELATED [] xref: UMLS:C4020773 xref: UMLS:C4021326 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010760 ! Absent toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010186 name: Broad distal phalanx of the toes def: "Increased width of the distal phalanx of toe of one or more toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad outermost bone of the toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide outermost bone of the toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023980 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010187 name: Bullet-shaped distal toe phalanx def: "An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped distal phalanges of the toes" EXACT [] synonym: "Bullet-shaped outermost bone of the toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021325 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010188 name: Curved distal toe phalanx def: "A deviation from the normal straight form of one or more distal toe phalanges." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved distal phalanges of the toes" EXACT [] synonym: "Curved outermost bone of the toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021324 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010189 name: Osteolytic defects of the distal phalanges of the toes xref: UMLS:C4023979 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010190 name: Patchy sclerosis of distal toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the distal phalanges of the toes" EXACT [] synonym: "Uneven increase in bone density in outermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021323 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010191 name: Symphalangism affecting the distal phalanges of the toes synonym: "Fused outermost bones of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023978 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010192 name: Triangular shaped distal phalanges of the toes synonym: "Triangular shaped outermost bone of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023977 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010193 name: Duplication of distal phalanx of toe def: "A partial or complete duplication of one or more distal phalanx of toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of outermost bone of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanges of the toes" EXACT [] xref: UMLS:C4021322 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010194 name: Aplasia/Hypoplasia of the middle phalanges of the toes synonym: "Absent/small middle bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bones of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023976 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010195 name: Broad middle phalanges of the toes synonym: "Broad middle bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023975 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010196 name: Bullet-shaped middle toe phalanx def: "An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped middle bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped middle phalanges of the toes" EXACT [] xref: UMLS:C4021321 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010197 name: Curved middle toe phalanx def: "A deviation from the normal straight form of one or more middle toe phalanges." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved middle bones of the toes" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Curved middle phalanges of the toes" EXACT [] xref: UMLS:C4021320 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010198 name: Osteolytic defects of the middle phalanges of the toes xref: UMLS:C4023974 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010199 name: Patchy sclerosis of middle toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the middle phalanges of the toes" EXACT [] synonym: "Uneven increase in bone density in middle toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021319 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010200 name: Symphalangism affecting the middle phalanges of the toes synonym: "Fused middle bones of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023973 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010201 name: Triangular shaped middle phalanges of the toes synonym: "Triangular shaped middle bones of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023972 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010202 name: Duplication of middle phalanx of toe def: "Partial or complete duplication of a middle phalanx of toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial/complete duplication of the middle bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanges of the toes" EXACT [] xref: UMLS:C4021318 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010203 name: Aplasia/hypoplasia of proximal toe phalanx def: "Absence (agenesis) or underdevelopment of the proximal phalanx of the toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia/Hypoplasia of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021317 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010204 name: Broad proximal phalanx of toe def: "An increase in width of one ore more proximal toe phalanges." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023971 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010205 name: Bullet-shaped proximal toe phalanx def: "An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped proximal phalanges of the toes" EXACT [] synonym: "Bullet-shaped proximal phalanges of toe" EXACT [] xref: UMLS:C4021316 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010206 name: Curved proximal toe phalanx def: "A deviation from the normal straight shape of a proximal phalanx of one or more toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved proximal phalanges of the toes" EXACT [] xref: UMLS:C4021315 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010207 name: Osteolytic defect of the proximal toe phalanx def: "Dissolution or degeneration of bone tissue of the proximal toe phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Osteolytic defects of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021314 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010208 name: Patchy sclerosis of proximal toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the proximal phalanges of the toes" EXACT [] synonym: "Uneven increase in bone density in innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021313 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010209 name: Symphalangism affecting the proximal phalanges of the toes synonym: "Fused innermost bones of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023970 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010210 name: Triangular shaped proximal phalanges of the toes synonym: "Triangular shaped innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023969 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010211 name: Duplication of proximal phalanx of toe def: "Partial/complete duplication of a proximal phalanx of toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of innermost toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021312 is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010212 name: Flexion contracture of the hallux def: "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint contracture of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Joint contracture of the hallux" EXACT [] xref: UMLS:C4021311 is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0005830 ! Flexion contracture of toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-06-02T01:39:18Z [Term] id: HP:0010213 name: Contracture of the tarsometatarsal joint of the hallux def: "Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023968 is_a: HP:0010212 ! Flexion contracture of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010214 name: Contracture of the interphalangeal joint of the hallux def: "The interphalangeal joint of the big toe cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023967 is_a: HP:0010212 ! Flexion contracture of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010215 name: Contractures of the metatarsophalangeal joint of the hallux def: "The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023966 is_a: HP:0010212 ! Flexion contracture of the hallux property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010219 name: Structural foot deformity def: "A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023965 is_a: HP:0001760 ! Abnormal foot morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-06-04T05:14:38Z [Term] id: HP:0010220 name: Abnormality of the epiphysis of the 2nd metacarpal def: "Any abnormality of the epiphysis of the second metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the 2nd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023964 is_a: HP:0010010 ! Abnormal 2nd metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-02T04:07:33Z [Term] id: HP:0010221 name: obsolete Pseudoepiphysis of the 2nd metacarpal is_obsolete: true replaced_by: HP:0006179 [Term] id: HP:0010222 name: Abnormal 3rd metacarpal epiphysis morphology def: "Any abnormality of the epiphysis of the third metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the 3rd long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the epiphysis of the 3rd metacarpal" EXACT [] xref: UMLS:C4023962 is_a: HP:0010011 ! Abnormal 3rd metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-02T04:10:28Z [Term] id: HP:0010223 name: Pseudoepiphysis of the 3rd metacarpal def: "The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023961 is_a: HP:0009193 ! Metacarpal pseudoepiphysis is_a: HP:0010222 ! Abnormal 3rd metacarpal epiphysis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-02T04:10:52Z [Term] id: HP:0010224 name: Abnormal 4th metacarpal epiphysis morphology def: "Any abnormality of the epiphysis of the 4th metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the 4th long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the epiphysis of the 4th metacarpal" EXACT [] xref: UMLS:C4023960 is_a: HP:0010012 ! Abnormal 4th metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-02T04:11:46Z [Term] id: HP:0010225 name: Pseudoepiphysis of the 4th metacarpal def: "The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023959 is_a: HP:0009193 ! Metacarpal pseudoepiphysis is_a: HP:0010224 ! Abnormal 4th metacarpal epiphysis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-02T04:12:04Z [Term] id: HP:0010226 name: Abnormal 5th metacarpal epiphysis morphology def: "Any abnormality of the epiphysis of the fifth metacarpal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the long bone of little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of the long bone of pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of the long bone of pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the epiphysis of the 5th metacarpal" EXACT [] xref: UMLS:C4023958 is_a: HP:0010013 ! Abnormal 5th metacarpal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-02T04:13:00Z [Term] id: HP:0010227 name: Pseudoepiphysis of the 5th metacarpal def: "The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023957 is_a: HP:0009193 ! Metacarpal pseudoepiphysis is_a: HP:0010226 ! Abnormal 5th metacarpal epiphysis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-02T04:13:20Z [Term] id: HP:0010228 name: Absent epiphyses of the phalanges of the hand alt_id: HP:0009359 def: "Absence of one or more epiphyses of the phalanges of the fingers." [https://orcid.org/0000-0002-5316-1399] synonym: "Absent end part of fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent epiphyses of the fingers" EXACT [] xref: UMLS:C4021310 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010577 ! Absent epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010229 name: Bracket epiphyses of the phalanges of the hand alt_id: HP:0009360 def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0002-0736-9199, PMID:24432108] synonym: "Bracket epiphyses of the fingers" EXACT [] synonym: "Bracket shaped end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021309 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010578 ! Bracket epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010230 name: Cone-shaped epiphyses of the phalanges of the hand alt_id: HP:0001175 alt_id: HP:0001207 alt_id: HP:0001242 alt_id: HP:0003766 alt_id: HP:0005803 alt_id: HP:0009361 def: "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of hand" EXACT [] synonym: "Cone-shaped epiphyses of the fingers" EXACT [] synonym: "Coned epiphyses of hands" EXACT [] synonym: "Conical phalangeal epiphyses" EXACT [] xref: UMLS:C1859480 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0034281 ! Phalangeal cone-shaped epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010231 name: Enlarged epiphyses of the phalanges of the hand alt_id: HP:0006023 alt_id: HP:0009362 def: "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlarged epiphyses of the fingers" EXACT [] synonym: "Enlarged phalangeal epiphyses" EXACT [] xref: UMLS:C1865036 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010580 ! Enlarged epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010232 name: Fragmentation of the epiphyses of the phalanges of the hand alt_id: HP:0009363 def: "Fragmented appearance of the epiphyses of the phalanges of the fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fragmentation of the epiphyses of the fingers" EXACT [] xref: UMLS:C4021308 is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010233 name: Irregular epiphyses of the phalanges of the hand alt_id: HP:0009364 def: "Irregular radiographic opacity of the epiphyses of the phalanges of the fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Irregular epiphyses of the fingers" EXACT [] xref: UMLS:C4021307 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010234 name: Ivory epiphyses of the phalanges of the hand alt_id: HP:0001210 alt_id: HP:0009365 def: "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ivory epiphyses of the fingers" EXACT [] synonym: "Sclerotic ivory phalangeal epiphyses" EXACT [] xref: UMLS:C1857651 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010583 ! Ivory epiphyses is_a: HP:0100899 ! Sclerosis of finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010235 name: Pseudoepiphyses of the phalanges of the hand alt_id: HP:0009366 def: "A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Pseudoepiphysis of the fingers" EXACT [] xref: UMLS:C4021306 is_a: HP:0004288 ! Pseudoepiphyses of hand bones is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010236 name: Small epiphyses of the phalanges of the hand alt_id: HP:0009367 def: "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small epiphyses of the fingers" EXACT [] xref: UMLS:C4021305 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010585 ! Small epiphyses property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010237 name: Epiphyseal stippling of finger phalanges alt_id: HP:0009368 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Speckled calcifications in end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the fingers" EXACT [] synonym: "Stippling of the epiphyses of the phalanges of the hand" EXACT [] xref: UMLS:C4021304 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010655 ! Epiphyseal stippling is_a: HP:0010660 ! Abnormal hand bone ossification property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010238 name: Triangular epiphyses of the phalanges of the hand alt_id: HP:0009369 def: "A triangular appearance of the epiphyses of the phalanges of the fingers of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Delta-shaped epiphyses of the fingers" EXACT [] synonym: "Triangular end part of finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular epiphyses of the fingers" EXACT [] xref: UMLS:C4021303 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010587 ! Triangular epiphysis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010239 name: Aplasia of the middle phalanx of the hand alt_id: HP:0005778 def: "Absence of one or more middle phalanx of a finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent middle bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent middle phalanges" EXACT [] synonym: "Missing middle phalanges" EXACT [] xref: UMLS:C1862096 is_a: HP:0009380 ! Finger aplasia is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T03:59:39Z [Term] id: HP:0010241 name: Short proximal phalanx of finger alt_id: HP:0005670 alt_id: HP:0006138 def: "Congenital hypoplasia of one or more proximal phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of the proximal phalanges of the hand" EXACT [] synonym: "Short innermost finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short proximal phalanges" EXACT [] synonym: "Short proximal phalanx of finger" EXACT layperson [] synonym: "Shortening in proximal phalanges" EXACT [] xref: UMLS:C1860606 is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:00:44Z [Term] id: HP:0010242 name: Aplasia of the proximal phalanges of the hand alt_id: HP:0006102 synonym: "Absent innermost bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent proximal phalanges" EXACT [] xref: UMLS:C4021302 is_a: HP:0009380 ! Finger aplasia is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:01:02Z [Term] id: HP:0010243 name: Abnormality of the epiphyses of the distal phalanx of finger def: "Any anomaly of distal epiphysis of phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the outermost bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023956 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010244 name: Abnormality of the epiphyses of the middle phalanges of the hand synonym: "Abnormality of the end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023955 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010245 name: Abnormality of the epiphyses of the proximal phalanges of the hand synonym: "Abnormality of the end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023954 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010246 name: Absent epiphyses of the distal phalanges of the hand synonym: "Absent end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023953 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010247 name: Bracket epiphyses of the distal phalanges of the hand def: "An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108] synonym: "Bracket shaped end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023952 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010248 name: Cone-shaped epiphyses of the distal phalanges of the hand synonym: "Cone-shaped end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023951 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010249 name: Enlarged epiphyses of the distal phalanges of the hand synonym: "Enlarged end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023950 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010250 name: Fragmentation of the epiphyses of the distal phalanges of the hand synonym: "Fragmentation of the end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023949 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010251 name: Irregular epiphyses of the distal phalanges of the hand synonym: "Irregular end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023948 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010252 name: Ivory epiphyses of the distal phalanges of the hand alt_id: HP:0006105 def: "Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199] synonym: "Eburnated epiphyses of distal phalanges" EXACT [] synonym: "Increased bone density of end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021301 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger is_a: HP:0100915 ! Sclerosis of distal finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010253 name: Pseudoepiphyses of the distal phalanges of the hand def: "A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [] xref: UMLS:C4023947 is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010254 name: Small epiphyses of the distal phalanges of the hand synonym: "Small end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023946 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010255 name: Stippling of the epiphyses of the distal phalanges of the hand synonym: "Speckled calcifications in the end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023945 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010256 name: Triangular epiphyses of the distal phalanges of the hand synonym: "Triangular end part of the outermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023944 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010257 name: Absent epiphyses of the middle phalanges of the hand synonym: "Absent end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023943 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010258 name: Bracket epiphyses of the middle phalanges of the hand def: "An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [PMID:24432108] synonym: "Bracket shaped end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023942 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010259 name: Cone-shaped epiphyses of the middle phalanges of the hand alt_id: HP:0006033 alt_id: HP:0006058 synonym: "Cone-shaped end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of middle phalanges" EXACT [] xref: UMLS:C1860828 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010260 name: Enlarged epiphyses of the middle phalanges of the hand synonym: "Enlarged end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023941 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010261 name: Fragmentation of the epiphyses of the middle phalanges of the hand def: "Fragmented appearance of the epiphyses of the middle phalanges of the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Fragmentation of the end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023940 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010262 name: Irregular epiphyses of the middle phalanges of the hand synonym: "Irregular end part of middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023939 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010263 name: Ivory epiphyses of the middle phalanges of the hand def: "Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023938 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand is_a: HP:0100916 ! Sclerosis of middle finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010264 name: Pseudoepiphyses of the middle phalanges of the hand def: "A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [] xref: UMLS:C4023937 is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010265 name: Small epiphyses of the middle phalanges of the hand synonym: "Small end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023936 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010266 name: Stippling of the epiphyses of the middle phalanges of the hand synonym: "Speckled calcifications in the end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023935 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010267 name: Triangular epiphyses of the middle phalanges of the hand synonym: "Triangular end part of the middle hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023934 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010268 name: Absent epiphyses of the proximal phalanges of the hand synonym: "Absent end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023933 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010269 name: Bracket epiphyses of the proximal phalanges of the hand def: "An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [https://orcid.org/0000-0001-7941-2961, PMID:24432108] synonym: "Bracket shaped end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023932 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010270 name: Cone-shaped epiphyses of the proximal phalanges of the hand synonym: "Cone-shaped end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023931 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010271 name: Enlarged epiphyses of the proximal phalanges of the hand synonym: "Enlarged end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023930 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010272 name: Fragmentation of the epiphyses of the proximal phalanges of the hand synonym: "Fragmentation of the end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023929 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010273 name: Irregular epiphyses of the proximal phalanges of the hand synonym: "Irregular end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023928 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010274 name: Ivory epiphyses of the proximal phalanges of the hand def: "Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased bone density of end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023927 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand is_a: HP:0100917 ! Sclerosis of proximal finger phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010275 name: Pseudoepiphyses of the proximal phalanges of the hand def: "A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023926 is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010276 name: Small epiphyses of the proximal phalanges of the hand synonym: "Small end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023925 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010277 name: Stippling of the epiphyses of the proximal phalanges of the hand synonym: "Speckled calcifications in the end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023924 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010278 name: Triangular epiphyses of the proximal phalanges of the hand synonym: "Triangular end part of the innermost hand bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023923 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010280 name: Stomatitis def: "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Gingivostomatitis" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Inflammation of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:20607006 xref: SNOMEDCT_US:61170000 xref: UMLS:C0038362 xref: UMLS:C0149704 is_a: HP:0011830 ! Abnormal oral mucosa morphology is_a: HP:0012649 ! Increased inflammatory response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T09:48:56Z [Term] id: HP:0010281 name: Cleft lower lip def: "A gap in the lower lip." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cleft lower lip" EXACT layperson [] synonym: "Cleft of the lower lip" EXACT layperson [] synonym: "Lower labial cleft" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856026 is_a: HP:0000178 ! Abnormal lower lip morphology is_a: HP:0410030 ! Cleft lip property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T09:50:34Z [Term] id: HP:0010282 name: Thin lower lip vermilion def: "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective)." [PMID:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual. synonym: "Decreased height of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin lower lip" EXACT layperson [] synonym: "Thin red part of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin vermilion border of lower lip" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2053440 is_a: HP:0000178 ! Abnormal lower lip morphology is_a: HP:0000233 ! Thin vermilion border property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T10:17:22Z [Term] id: HP:0010284 name: Intra-oral hyperpigmentation def: "Increased pigmentation, either focal or generalized, of the mucosa of the mouth." [PMID:19125428] comment: Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation. subset: hposlim_core synonym: "Dark color of gums" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dark colour of gums" NARROW uk_spelling [] synonym: "Gingival hyperpigmentation" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival melanin pigmentation" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperpigmentation of oral mucosa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral mucosa melanin pigmentation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Oral racial pigmentation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pigmented gums" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:235038002 xref: UMLS:C0399483 xref: UMLS:C0877541 xref: UMLS:C4280387 xref: UMLS:C4280388 xref: UMLS:C4280389 is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T10:33:11Z [Term] id: HP:0010285 name: Oral synechia def: "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges." [PMID:19125428] comment: These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead. subset: hposlim_core synonym: "Oral fibrous bands" BROAD [] synonym: "Synechiae of the mouth" EXACT [] xref: UMLS:C4023921 is_a: HP:0011830 ! Abnormal oral mucosa morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T10:37:03Z [Term] id: HP:0010286 name: Abnormal salivary gland morphology def: "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the salivary glands" EXACT layperson [] synonym: "Salivary gland disease" RELATED layperson [] xref: SNOMEDCT_US:10890000 xref: UMLS:C0036093 xref: UMLS:C0149772 is_a: HP:0000163 ! Abnormal oral cavity morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T10:38:51Z [Term] id: HP:0010287 name: Abnormality of the submandibular glands def: "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the submaxillary glands" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023920 is_a: HP:0010286 ! Abnormal salivary gland morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T10:41:17Z [Term] id: HP:0010288 name: Abnormality of the sublingual glands def: "Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023919 is_a: HP:0010286 ! Abnormal salivary gland morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T10:42:35Z [Term] id: HP:0010289 name: Cleft maxillary alveolar ridge alt_id: HP:0410003 def: "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine." [HPO_CONTRIBUTOR:mengelstad, https://orcid.org/0000-0002-0736-9199] comment: The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine. subset: hposlim_core synonym: "Alveolar cleft" EXACT [] synonym: "Alveolar ridge cleft" EXACT [] synonym: "Cleft anterior maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft maxillary alveolus" EXACT [] synonym: "Cleft of alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of alveolar ridge of maxilla" EXACT [] synonym: "Cleft of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Notch of alveolar process" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Notch of alveolar ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Notch of gum ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:445306000 xref: UMLS:C1398533 xref: UMLS:C2919907 xref: UMLS:C4280386 is_a: HP:0000202 ! Orofacial cleft property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T10:47:29Z [Term] id: HP:0010290 name: Short hard palate def: "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective)." [PMID:19125428] comment: Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence. synonym: "Decreased length of hard palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic palate" RELATED [] synonym: "Short palate" RELATED [] xref: UMLS:C1398301 xref: UMLS:C4020772 xref: UMLS:C4023918 is_a: HP:0100737 ! Abnormal hard palate morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:28:44Z [Term] id: HP:0010291 name: Prominent palatine ridges def: "Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge." [PMID:19125428] comment: Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly. subset: hposlim_core synonym: "Large lateral palatal folds" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large lateral palatal ridges" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent lateral palatal folds" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent lateral palatal ridges" EXACT [] synonym: "Prominent palatine folds" EXACT [] xref: UMLS:C4021300 is_a: HP:0000174 ! Abnormal palate morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:33:40Z [Term] id: HP:0010292 name: Absent uvula def: "Lack of the uvula." [PMID:19125428] comment: Sometimes accompanies a Submucous cleft palate, but this should be coded separately. subset: hposlim_core synonym: "Absent palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of uvula" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital absence of uvula" EXACT [] synonym: "Missing uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Uvula aplasia" EXACT [] xref: SNOMEDCT_US:25148007 xref: UMLS:C0266121 is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:36:21Z [Term] id: HP:0010293 name: Aplasia/Hypoplasia of the uvula def: "Underdevelopment or absence of the uvula." [https://orcid.org/0000-0002-0736-9199] synonym: "Aplasia/hypoplasia of palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023917 is_a: HP:0000172 ! Abnormal uvula morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:36:52Z [Term] id: HP:0010294 name: Palate fistula def: "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Hole in roof of mouth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Palatal hole" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Palatal perforation" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2032780 xref: UMLS:C4280385 is_a: HP:0000174 ! Abnormal palate morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:39:52Z [Term] id: HP:0010295 name: Aplasia/Hypoplasia of the tongue def: "Absence or underdevelopment of the tongue." [https://orcid.org/0000-0002-0736-9199] synonym: "Lingual aplasia/hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023916 xref: UMLS:C4280384 is_a: HP:0030809 ! Abnormal tongue morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:41:04Z [Term] id: HP:0010296 name: Ankyloglossia def: "Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue." [PMID:19125428] comment: The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue. synonym: "Tongue tie" RELATED [] synonym: "Tongue tied" EXACT layperson [] xref: SNOMEDCT_US:67787004 xref: UMLS:C0152415 is_a: HP:0000190 ! Abnormal oral frenulum morphology is_a: HP:0030809 ! Abnormal tongue morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:44:22Z [Term] id: HP:0010297 name: Bifid tongue def: "Tongue with a median apical indentation or fork." [PMID:19125428] comment: Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue. subset: hposlim_core synonym: "Bifurcated tongue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Bilobed tongue" EXACT [] synonym: "Cleft tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Forked tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Snake tongue" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Split tongue" EXACT layperson [] xref: SNOMEDCT_US:84557007 xref: UMLS:C0266111 xref: UMLS:C4255098 is_a: HP:0030809 ! Abnormal tongue morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:47:28Z [Term] id: HP:0010298 name: Smooth tongue def: "Glossy appearance of the entire tongue surface." [PMID:19125428] comment: This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue. subset: hposlim_core synonym: "Atrophy of dorsum of tongue" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Atrophy of lingual surface" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Atrophy of tongue surface" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Smooth dorsum of tongue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Smooth lingual surface" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Smooth surface of tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Smooth tongue" EXACT layperson [] xref: SNOMEDCT_US:9491003 xref: UMLS:C0155964 xref: UMLS:C4280381 xref: UMLS:C4280382 xref: UMLS:C4280383 is_a: HP:0030809 ! Abnormal tongue morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T11:58:17Z [Term] id: HP:0010299 name: Abnormal dentin morphology def: "Any abnormality of dentin." [https://orcid.org/0000-0002-0736-9199] comment: Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp. subset: hposlim_core synonym: "Abnormal dentin" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of dentin" EXACT layperson [] synonym: "Abnormality of dentine" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dentin anomaly" EXACT [] xref: UMLS:C4021299 is_a: HP:0011061 ! Abnormality of dental structure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T12:11:14Z [Term] id: HP:0010300 name: Abnormally low-pitched voice def: "A persistent (minutes to hours) abnormal decrease in the pitch of the voice for the context or social situation or significantly different from the baseline of the individual." [] synonym: "Low pitched voice" EXACT [] synonym: "Low-pitched voice" EXACT [] xref: UMLS:C4023915 is_a: HP:5200005 ! Abnormal pitch property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T12:19:22Z [Term] id: HP:0010301 name: Spinal dysraphism def: "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [https://orcid.org/0000-0002-0736-9199] comment: Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism include spina bifida occulta. synonym: "Incomplete closure of the vertebral arch" EXACT [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:253098009 xref: UMLS:C0027794 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0045005 ! Neural tube defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T12:58:04Z [Term] id: HP:0010302 name: Spinal cord tumor alt_id: HP:0009712 def: "A neoplasm affecting the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Spinal cord tumor" EXACT layperson [] synonym: "Spinal cord tumour" EXACT uk_spelling [] synonym: "Spinal tumor" RELATED layperson [] synonym: "Spinal tumors" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Spinal tumour" RELATED uk_spelling [] synonym: "Spinal tumours" RELATED uk_spelling [] synonym: "Tumor of the spinal cord" EXACT layperson [] synonym: "Tumour of the spinal cord" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126962006 xref: UMLS:C0037930 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0100006 ! Neoplasm of the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T01:05:50Z [Term] id: HP:0010303 name: Abnormal spinal meningeal morphology def: "Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the spinal meninges" EXACT [] xref: UMLS:C4023914 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0010651 ! Abnormal meningeal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T01:10:09Z [Term] id: HP:0010304 name: Spinal meningeal diverticulum def: "An outpouching of the spinal meninges." [https://orcid.org/0000-0002-0736-9199] synonym: "Spinal meningeal diverticula" EXACT plural_form [] xref: UMLS:C4023913 is_a: HP:0010303 ! Abnormal spinal meningeal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T01:11:53Z [Term] id: HP:0010305 name: Absence of the sacrum def: "Absence (aplasia) of the sacrum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent sacrum" EXACT [] synonym: "Sacral agenesis" EXACT [] synonym: "Sacrococcygeal agenesis" BROAD [] xref: SNOMEDCT_US:205425003 xref: UMLS:C0344490 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T01:13:26Z [Term] id: HP:0010306 name: Short thorax def: "Reduced inferior to superior extent of the thorax." [https://orcid.org/0000-0002-0736-9199] synonym: "Shorter than typical length between neck and abdomen" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:249670005 xref: UMLS:C0426789 is_a: HP:0000765 ! Abnormal thorax morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:13:42Z [Term] id: HP:0010307 name: Stridor def: "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [https://orcid.org/0000-0002-0736-9199, PMID:26229557] comment: Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. synonym: "Noisy breathing" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:248573009 xref: SNOMEDCT_US:70407001 xref: UMLS:C0038450 xref: UMLS:C0237304 is_a: HP:0030829 ! Abnormal breath sound property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:16:48Z [Term] id: HP:0010308 name: Asternia def: "The congenital absence of the sternum." [https://orcid.org/0000-0002-0736-9199, PMID:3424262] synonym: "Aplasia of the sternum" EXACT [] synonym: "Breast bone aplasia" EXACT [] xref: UMLS:C4023912 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:21:46Z [Term] id: HP:0010309 name: Bifid sternum def: "The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum." [https://orcid.org/0000-0002-0736-9199] comment: Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form. subset: hposlim_core synonym: "Sternal cleft" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:54008006 xref: UMLS:C0265696 is_a: HP:0000766 ! Abnormal sternum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:23:18Z [Term] id: HP:0010310 name: Chylothorax def: "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:83035003 xref: UMLS:C0008733 is_a: HP:0002202 ! Pleural effusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:30:05Z [Term] id: HP:0010311 name: Aplasia/Hypoplasia of the breasts def: "Absence or underdevelopment of the breasts." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small breasts" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped breasts" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023911 is_a: HP:0031093 ! Abnormal breast morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:31:49Z [Term] id: HP:0010312 name: Asymmetry of the breasts def: "The presence of asymmetrical breasts." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1854013 is_a: HP:0031093 ! Abnormal breast morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:32:46Z [Term] id: HP:0010313 name: Breast hypertrophy def: "The presence of hypertrophy of the breast." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Breast enlargement" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Breasts enlarged" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Gigantomastia" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hypertrophy of the breasts" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Large breast" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Macromastia" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:372281005 xref: SNOMEDCT_US:372283008 xref: SNOMEDCT_US:372285001 xref: UMLS:C0020565 xref: UMLS:C0392533 xref: UMLS:C2225524 is_a: HP:0031093 ! Abnormal breast morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:34:30Z [Term] id: HP:0010314 name: Premature thelarche def: "Premature development of the breasts." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature breast development" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:102889008 xref: UMLS:C0425772 is_a: HP:0000826 ! Precocious puberty property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:36:24Z [Term] id: HP:0010315 name: Aplasia/Hypoplasia of the diaphragm def: "Absence or underdevelopment of the diaphragm." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small diaprhagm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped diaprhagm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023910 is_a: HP:0000775 ! Abnormality of the diaphragm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-12T02:41:58Z [Term] id: HP:0010316 name: Ebstein anomaly of the tricuspid valve alt_id: HP:0006674 def: "Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. synonym: "Ebstein's anomaly" EXACT [] synonym: "Ebstein's anomaly of the tricuspid valve" EXACT [] synonym: "Ebstein's malformation" EXACT [] xref: EPCC:06.01.34 xref: ICD-10:Q22.5 xref: SNOMEDCT_US:204357006 xref: UMLS:C0013481 is_a: HP:0001702 ! Abnormal tricuspid valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-14T11:12:07Z [Term] id: HP:0010317 name: Scapular aplasia def: "Absence of the scapulae." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent scapula" EXACT [] synonym: "Absent shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021298 is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-14T11:40:24Z [Term] id: HP:0010318 name: Aplasia/Hypoplasia of the abdominal wall musculature def: "Absence or underdevelopment of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small abdominal wall muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped abdominal wall muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023909 is_a: HP:0010991 ! Abnormal morphology of the abdominal musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-07-14T11:51:46Z [Term] id: HP:0010319 name: Abnormal second toe morphology def: "An anomaly of the second toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal 2nd toe morphology" EXACT [] synonym: "Abnormality of the 2nd toe" EXACT [] xref: UMLS:C4023908 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010320 name: Abnormal third toe morphology def: "An anomaly of the third toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal 3rd toe morphology" EXACT [] synonym: "Abnormality of the 3rd toe" EXACT layperson [] xref: UMLS:C4023907 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010321 name: Abnormal fourth toe morphology def: "An anomaly of the fourth toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal 4th toe morphology" EXACT [] synonym: "Abnormality of the 4th toe" EXACT layperson [] xref: UMLS:C4023906 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010322 name: Abnormal fifth toe morphology def: "An anomaly of the little toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal 5th toe morphology" EXACT [] synonym: "Abnormality of the 5th toe" EXACT [] synonym: "Abnormality of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023905 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010323 name: Abnormality of the epiphyses of the 2nd toe synonym: "Abnormality of the end part of the 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023904 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010319 ! Abnormal second toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010324 name: Abnormal morphology of phalanx of the 2nd toe def: "An anomaly of a phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Abnormality of the 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023903 is_a: HP:0010161 ! Abnormal toe phalanx morphology is_a: HP:0010319 ! Abnormal second toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010325 name: Aplasia/Hypoplasia of the 2nd toe synonym: "Absent/small 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023902 is_a: HP:0010319 ! Abnormal second toe morphology is_a: HP:0010760 ! Absent toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010326 name: Deviation of the 2nd toe synonym: "Displacement of the 2nd toe" EXACT layperson [] xref: UMLS:C4021297 is_a: HP:0010319 ! Abnormal second toe morphology is_a: HP:0100498 ! Deviation of toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010327 name: Flexion contracture of the 2nd toe def: "One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint contractures of the 2nd toe" EXACT [] xref: UMLS:C4021296 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010319 ! Abnormal second toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010328 name: Polydactyly affecting the 2nd toe xref: UMLS:C4023901 is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010319 ! Abnormal second toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010329 name: Abnormality of the epiphyses of the 3rd toe synonym: "Abnormality of the end part of the 3rd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023900 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010320 ! Abnormal third toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010330 name: Abnormality of the phalanges of the 3rd toe synonym: "Abnormality of the bones of the 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023899 is_a: HP:0010161 ! Abnormal toe phalanx morphology is_a: HP:0010320 ! Abnormal third toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010331 name: Aplasia/Hypoplasia of the 3rd toe alt_id: HP:0008100 synonym: "Absent/hypoplastic third toe" EXACT [] synonym: "Absent/small 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1862698 is_a: HP:0010320 ! Abnormal third toe morphology is_a: HP:0010760 ! Absent toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010332 name: Deviation of the 3rd toe synonym: "Displacement of the 3rd toe" EXACT layperson [] xref: UMLS:C4021295 is_a: HP:0010320 ! Abnormal third toe morphology is_a: HP:0100498 ! Deviation of toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010333 name: Flexion contracture of 3rd toe def: "One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint contractures of the 3rd toe" EXACT [] xref: UMLS:C4021294 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010320 ! Abnormal third toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010334 name: Polydactyly affecting the 3rd toe xref: UMLS:C4023898 is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010320 ! Abnormal third toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010335 name: Abnormality of the epiphyses of the 4th toe synonym: "Abnormality of the end part of the 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023897 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010321 ! Abnormal fourth toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010336 name: Abnormality of the phalanges of the 4th toe xref: UMLS:C4023896 is_a: HP:0010161 ! Abnormal toe phalanx morphology is_a: HP:0010321 ! Abnormal fourth toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010337 name: Aplasia/Hypoplasia of the 4th toe synonym: "Absent/small 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023895 is_a: HP:0010321 ! Abnormal fourth toe morphology is_a: HP:0010760 ! Absent toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010338 name: Deviation of the 4th toe synonym: "Displacement of the 4th toe" EXACT [] xref: UMLS:C4021293 is_a: HP:0010321 ! Abnormal fourth toe morphology is_a: HP:0100498 ! Deviation of toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010339 name: Flexion contracture of the 4th toe def: "One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint contractures of the 4th toe" EXACT [] xref: UMLS:C4021292 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010321 ! Abnormal fourth toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010340 name: Polydactyly affecting the 4th toe xref: UMLS:C4023894 is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010321 ! Abnormal fourth toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010341 name: Abnormality of the epiphyses of the 5th toe synonym: "Abnormality of the end part of the little toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of the pinkie toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of the pinky toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023893 is_a: HP:0010160 ! Abnormal toe epiphysis morphology is_a: HP:0010322 ! Abnormal fifth toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010342 name: Abnormality of the phalanges of the 5th toe synonym: "Abnormality of the little toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the pinkie toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the pinky toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023892 is_a: HP:0010161 ! Abnormal toe phalanx morphology is_a: HP:0010322 ! Abnormal fifth toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010343 name: Aplasia/Hypoplasia of the 5th toe synonym: "Absent/small little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small pinky toe" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023891 is_a: HP:0010322 ! Abnormal fifth toe morphology is_a: HP:0010760 ! Absent toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010344 name: Deviation of the 5th toe synonym: "Displacement of the 5th toe" EXACT [] synonym: "Displacement of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Displacement of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Displacement of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021291 is_a: HP:0010322 ! Abnormal fifth toe morphology is_a: HP:0100498 ! Deviation of toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010345 name: Flexion contracture of the 5th toe def: "One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint contractures of the 5th toe" EXACT layperson [] xref: UMLS:C4021290 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010322 ! Abnormal fifth toe morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010347 name: Aplasia/Hypoplasia of the phalanges of the 2nd toe synonym: "Absent/small bones of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped bones of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023890 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010348 name: Broad phalanges of the 2nd toe synonym: "Broad bones of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023889 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010349 name: Bullet-shaped 2nd toe phalanx def: "An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped bones of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 2nd toe" EXACT [] xref: UMLS:C4021289 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010350 name: Curved 2nd toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the second toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved bones of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved phalanges of the 2nd toe" EXACT layperson [] xref: UMLS:C4021288 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010351 name: Osteolytic defects of the phalanges of the 2nd toe xref: UMLS:C4023888 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010352 name: Patchy sclerosis of 2nd toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the 2nd toe" EXACT [] synonym: "Uneven increase in bone density in 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021287 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010353 name: Second toe symphalangism def: "Fusion of the interphalangeal joints of the 2nd toe." [https://orcid.org/0000-0002-0736-9199] synonym: "2nd toe symphalangism" EXACT [] synonym: "Fused bones of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism affecting the phalanges of the 2nd toe" EXACT [] xref: UMLS:C4023887 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe is_a: HP:0100235 ! Synostosis involving bones of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010354 name: Triangular shaped phalanges of the 2nd toe synonym: "Triangular shaped bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular shaped bone of second toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023886 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010355 name: Duplication of the phalanges of the 2nd toe def: "Partial or complete duplication of a phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of the bones of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the phalanges of the 2nd toe" EXACT [] xref: UMLS:C4021286 is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010356 name: Abnormality of the distal phalanx of the 2nd toe synonym: "Abnormality of the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023885 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010357 name: Abnormality of the middle phalanx of the 2nd toe synonym: "Abnormality of the middle bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023884 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010358 name: Abnormal morphology of the proximal phalanx of the 2nd toe synonym: "Abnormality of the innermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023883 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010324 ! Abnormal morphology of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010359 name: Aplasia/Hypoplasia of the phalanges of the 3rd toe synonym: "Absent/small bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023882 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010360 name: Broad phalanges of the 3rd toe synonym: "Wide bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023881 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010361 name: Bullet-shaped 3rd toe phalanx def: "An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 3rd toe" EXACT [] xref: UMLS:C4021285 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010362 name: Curved 3rd toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the third toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved phalanges of the 3rd toe" EXACT layperson [] xref: UMLS:C4021284 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010363 name: Osteolytic defects of the phalanges of the 3rd toe xref: UMLS:C4021825 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010364 name: Patchy sclerosis of 3rd toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the 3rd toe" EXACT [] synonym: "Uneven increase in bone density in 3rd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021283 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010365 name: Symphalangism affecting the phalanges of the 3rd toe synonym: "Fused bones of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023880 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe is_a: HP:0100235 ! Synostosis involving bones of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010366 name: Triangular shaped phalanges of the 3rd toe synonym: "Triangular shaped 3rd toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023879 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010367 name: Duplication of phalanx of the 3rd toe def: "Partial or complete duplication of phalanx of third toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of 3rd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 3rd toe" EXACT [] xref: UMLS:C4021282 is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010368 name: Abnormality of the distal phalanx of the 3rd toe synonym: "Abnormality of the outermost bone of the 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023878 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010369 name: Abnormality of the middle phalanx of the 3rd toe synonym: "Abnormality of the middle bone of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023877 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010370 name: Abnormal morphology of the proximal phalanx of the 3rd toe def: "An anomaly of the proximal phalanx of third toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the innermost bone of 3rd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023876 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010371 name: Aplasia/Hypoplasia of the phalanges of the 4th toe synonym: "Absent/small bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023875 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010372 name: Broad phalanges of the 4th toe synonym: "Broad bones of the 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023874 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010373 name: Bullet-shaped 4th toe phalanx def: "An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped bones of the 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 4th toe" EXACT [] xref: UMLS:C4021281 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010374 name: Curved 4th toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the fourth toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved phalanges of the 4th toe" EXACT [] xref: UMLS:C4021280 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010375 name: Osteolytic defects of the phalanges of the 4th toe xref: UMLS:C4023873 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010376 name: Patchy sclerosis of 4th toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the 4th toe" EXACT layperson [] synonym: "Uneven increase in bone density in 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021279 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe is_a: HP:0100928 ! Sclerosis of 4th toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010377 name: Symphalangism affecting the phalanges of the 4th toe synonym: "Fused bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023872 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe is_a: HP:0100235 ! Synostosis involving bones of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010378 name: Triangular shaped phalanges of the 4th toe synonym: "Triangular shaped bones of 4th toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023871 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010379 name: Duplication of phalanx of the 4th toe def: "Partial or complete duplication of phalanx of fourth toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 4th toe" EXACT [] xref: UMLS:C4021278 is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010380 name: Abnormality of the distal phalanx of the 4th toe synonym: "Abnormality of the outermost 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023870 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010381 name: Abnormality of the middle phalanx of the 4th toe synonym: "Abnormality of middle 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023869 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010382 name: Abnormal morphology of the proximal phalanx of the 4th toe synonym: "Abnormal innermost 4th toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023868 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010383 name: Aplasia/Hypoplasia of the phalanges of the 5th toe synonym: "Absent/small little toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small pinkie toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/small pinky toe bones" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped pinky toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023867 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010384 name: Broad phalanges of the 5th toe synonym: "Broad bones of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad bones of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Broad bones of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023866 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010385 name: Bullet-shaped 5th toe phalanx def: "An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped bones of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped bones of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped bones of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 5th toe" EXACT [] xref: UMLS:C4021277 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010386 name: Curved 5th toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the fifth toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved little toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Curved phalanges of the 5th toe" EXACT [] synonym: "Curved pinkie toe bones" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Curved pinky toe bones" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021276 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010387 name: Osteolytic defects of the phalanges of the 5th toe xref: UMLS:C4023865 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010388 name: Patchy sclerosis of 5th toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy sclerosis of the phalanges of the 5th toe" EXACT [] synonym: "Uneven increase in bone density in little toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in pinkie toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uneven increase in bone density in pinky toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021275 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe is_a: HP:0100929 ! Sclerosis of 5th toe phalanx property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010389 name: Symphalangism affecting the phalanges of the 5th toe synonym: "Fused bones in the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused bones in the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fused bones in the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023864 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe is_a: HP:0100235 ! Synostosis involving bones of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010390 name: Triangular shaped phalanges of the 5th toe synonym: "Triangular shaped little toe bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular shaped pinkie toe bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular shaped pinky toe bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023863 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010391 name: Duplication of the phalanges of the 5th toe def: "Partial or complete duplication of one or more phalanx of little toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Duplication of the bones of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the bones of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the bones of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the phalanges of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 5th toe" EXACT [] xref: UMLS:C4020903 is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010392 name: Abnormality of the distal phalanx of the 5th toe synonym: "Abnormality of the outermost bone of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the outermost bone of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the outermost bone of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023862 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010393 name: Abnormality of the middle phalanx of the 5th toe synonym: "Abnormality of the middle bone of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the middle bone of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the middle bone of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023861 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010394 name: Abnormal morphology of the proximal phalanx of the 5th toe synonym: "Abnormality of the innermost bone of the little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the innermost bone of the pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the innermost bone of the pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023860 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010395 name: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe def: "Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023859 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010396 name: Broad proximal phalanx of the 2nd toe synonym: "Broad innermost bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023858 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010397 name: Bullet-shaped proximal phalanx of the 2nd toe def: "An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped innermost bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023857 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010398 name: Curved proximal phalanx of the 2nd toe def: "A deviation from the normal straight form of the proximal phalanx of the 2nd toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved innermost bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023856 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010399 name: Osteolytic defects of the proximal phalanx of the 2nd toe xref: UMLS:C4023855 is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010400 name: Patchy sclerosis of the proximal phalanx of the 2nd toe synonym: "Uneven increase in bone density in the innermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023854 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe is_a: HP:0100931 ! Sclerosis of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010401 name: Symphalangism affecting the proximal phalanx of the 2nd toe synonym: "Fused innermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023853 is_a: HP:0010353 ! Second toe symphalangism is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010402 name: Triangular shaped proximal phalanx of the 2nd toe synonym: "Triangular shaped innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023852 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010403 name: Duplication of the proximal phalanx of the 2nd toe def: "Partial or complete duplication of proximal phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the second toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021274 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormal morphology of the proximal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010404 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe synonym: "Absent/small middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023851 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010405 name: Broad middle phalanx of the 2nd toe synonym: "Broad middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023850 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010406 name: Bullet-shaped middle phalanx of the 2nd toe def: "An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023849 is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010407 name: Curved middle phalanx of the 2nd toe def: "A deviation from the normal straight form of the middle phalanx of the 2nd toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023848 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010408 name: Osteolytic defects of the middle phalanx of the 2nd toe xref: UMLS:C4023847 is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010409 name: Patchy sclerosis of the middle phalanx of the 2nd toe synonym: "Uneven increase in bone density in the middle bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023846 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe is_a: HP:0100935 ! Sclerosis of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010410 name: Symphalangism affecting the middle phalanx of the 2nd toe synonym: "Fused middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023845 is_a: HP:0010353 ! Second toe symphalangism is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010411 name: Triangular shaped middle phalanx of the 2nd toe synonym: "Triangular shaped middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023844 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010412 name: Duplication of the middle phalanx of the 2nd toe def: "Partial or complete duplication of middle phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021273 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010413 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe synonym: "Absent/small outermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023843 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010414 name: Broad distal phalanx of the 2nd toe synonym: "Broad outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023842 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010415 name: Bullet-shaped distal phalanx of the 2nd toe def: "An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [https://orcid.org/0000-0002-0736-9199] synonym: "Bullet-shaped outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023841 is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010416 name: Curved distal phalanx of the 2nd toe def: "A deviation from the normal straight form of the distal phalanx of the 2nd toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Curved outermost bone of the 2nd toe" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023840 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010417 name: Osteolytic defects of the distal phalanx of the 2nd toe xref: UMLS:C4023839 is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010418 name: Patchy sclerosis of the distal phalanx of the 2nd toe synonym: "Uneven increase in bone density in the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023838 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0100939 ! Sclerosis of the distal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010419 name: Symphalangism affecting the distal phalanx of the 2nd toe synonym: "Fused outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023837 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe is_a: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010420 name: Triangular shaped distal phalanx of the 2nd toe synonym: "Triangular shaped outermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023836 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010421 name: Duplication of the distal phalanx of the 2nd toe def: "Partial or complete duplication of the distal phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Duplication of the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021272 is_a: HP:0010193 ! Duplication of distal phalanx of toe is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010422 name: Complete duplication of the proximal phalanx of the 2nd toe def: "Complete duplication of proximal phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Complete duplication of the innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Complete duplication of the proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021271 is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:56:56Z [Term] id: HP:0010423 name: Partial duplication of the proximal phalanx of the 2nd toe def: "Partial duplication of proximal phalanx of second toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of the innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Partial duplication of the proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021270 is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:56:56Z [Term] id: HP:0010424 name: Complete duplication of the distal phalanx of the 2nd toe def: "Complete duplication of the distal phalanx of second toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Complete duplication of the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023835 is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:57:27Z [Term] id: HP:0010425 name: Partial duplication of the distal phalanx of the 2nd toe def: "Partial duplication of the distal phalanx of second toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial duplication of the outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023834 is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:57:27Z [Term] id: HP:0010426 name: Complete duplication of the middle phalanx of the 2nd toe def: "Complete duplication of middle phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Complete duplication of the middle bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023833 is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:58:18Z [Term] id: HP:0010427 name: Partial duplication of the middle phalanx of the 2nd toe def: "Partial duplication of middle phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of the middle bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023832 is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T12:58:18Z [Term] id: HP:0010428 name: Partial duplication of phalanx of the 2nd toe def: "Partial duplication of a phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Partial duplication of 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023831 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:07:33Z [Term] id: HP:0010429 name: Complete duplication of the phalanges of the 2nd toe def: "Complete duplication of a phalanx of second toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Complete duplication of the 2nd toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023830 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:07:33Z [Term] id: HP:0010430 name: Aplasia of the phalanges of the 2nd toe alt_id: HP:0100361 synonym: "Absent 2nd toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023829 is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:27:29Z [Term] id: HP:0010431 name: Short phalanx of the 2nd toe alt_id: HP:0100365 def: "Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic/small phalanges of the 2nd toe" EXACT [] synonym: "Short 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short phalanx of the second toe" EXACT [] xref: UMLS:C4021269 is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:27:29Z [Term] id: HP:0010432 name: Absent distal phalanx of the 2nd toe def: "Absence of distal phalanx of the second toe as a result of developmental aplasia." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent distal phalanx of the second toe" EXACT [] synonym: "Absent outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the distal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021268 is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010433 name: Short distal phalanx of the 2nd toe def: "Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic/small distal phalanx of the 2nd toe" EXACT [] synonym: "Short distal phalanx of the second toe" EXACT [] synonym: "Short outermost bone of the 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021267 is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010434 name: Aplasia of the middle phalanx of the 2nd toe synonym: "Absent middle bone of 2nd toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023828 is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:28:48Z [Term] id: HP:0010435 name: Short middle phalanx of the 2nd toe def: "Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic/small middle phalanx of the 2nd toe" EXACT [] synonym: "Short middle 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short middle phalanx of the second toe" EXACT [] xref: UMLS:C4021266 is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:28:48Z [Term] id: HP:0010436 name: Aplasia of the proximal phalanx of the 2nd toe synonym: "Absent innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023827 is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:29:25Z [Term] id: HP:0010437 name: Short proximal phalanx of the 2nd toe def: "Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia." [https://orcid.org/0009-0006-4530-3154] synonym: "Hypoplastic/small proximal phalanx of the 2nd toe" EXACT [] synonym: "Short innermost 2nd toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021265 is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-16T04:29:25Z [Term] id: HP:0010438 name: Abnormal ventricular septum morphology alt_id: HP:0001628 def: "A structural abnormality of the interventricular septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal interventricular septum morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the ventricular septum" EXACT [] synonym: "Ventricular septum abnormality" EXACT [] xref: Fyler:1815 xref: UMLS:C4021264 is_a: HP:0001671 ! Abnormal cardiac septum morphology is_a: HP:0001713 ! Abnormal cardiac ventricle morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-27T11:59:56Z [Term] id: HP:0010440 name: Ectopic accessory toe-like appendage def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023826 is_a: HP:0001829 ! Foot polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-29T01:23:02Z [Term] id: HP:0010441 name: Ectopic accessory finger-like appendage def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023825 is_a: HP:0001161 ! Hand polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-29T01:34:47Z [Term] id: HP:0010442 name: Polydactyly alt_id: HP:0006034 alt_id: HP:0006046 alt_id: HP:0006123 alt_id: HP:0009605 def: "A congenital anomaly characterized by the presence of supernumerary fingers or toes." [https://orcid.org/0000-0002-0736-9199] synonym: "More than five fingers or toes on hands or feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:4103 xref: SNOMEDCT_US:367506006 xref: UMLS:C0152427 is_a: HP:0011297 ! Abnormal digit morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-29T01:39:27Z [Term] id: HP:0010443 name: Bifid femur def: "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Notched thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Split thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023824 is_a: HP:0002823 ! Abnormal femur morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-07-29T04:29:30Z [Term] id: HP:0010444 name: Pulmonic regurgitation def: "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-3302-4610, PMID:32491496] comment: The pulmonary valve directs blood from the right ventricle (RV) towards the pulmonary arteries during systole. synonym: "Pulmonary incompetence" EXACT [] synonym: "Pulmonary valve insufficiency" EXACT [] synonym: "Pulmonary valve regurgitation" EXACT [] synonym: "Puolmonary valve insufficiency" EXACT [] xref: SNOMEDCT_US:91434003 xref: UMLS:C0034088 is_a: HP:0031654 ! Abnormal pulmonary valve physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T09:54:12Z [Term] id: HP:0010445 name: Primum atrial septal defect def: "An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Atrial septal defect, primum type" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "ostium primum ASD" EXACT abbreviation [] synonym: "Ostium primum atrial septal defect" EXACT [] synonym: "Primum atrioventricular canal defect" EXACT [] synonym: "Septum primum defect" EXACT [] xref: Fyler:1110 xref: SNOMEDCT_US:253373002 xref: UMLS:C0344735 xref: UMLS:C0741296 is_a: HP:0001631 ! Atrial septal defect is_a: HP:0006695 ! Atrioventricular canal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T09:59:38Z [Term] id: HP:0010446 name: Tricuspid stenosis def: "A narrowing of the orifice of the tricuspid valve of the heart." [https://orcid.org/0000-0002-0736-9199, PMID:18222317] comment: Tricuspid stenosis results in characteristic changes in the jugular venous pulse in the form of leisurely V to Y descent and prominent a-waves. The liver is enlarged with a firm edge and is pulsatile in presystole. This is best appreciated with one hand on the liver edge and one on the precordium. Auscultation reveals a low- to medium-pitched diastolic rumble with inspiratory accentuation. This is usually localized to the lower sternal border. xref: EPCC:06.01.92 xref: ICD-10:Q22.4 xref: SNOMEDCT_US:49915006 xref: UMLS:C0040963 is_a: HP:0031651 ! Abnormal tricuspid valve physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T10:10:10Z [Term] id: HP:0010447 name: Anal fistula def: "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Fistula in ano" EXACT [] xref: MEDDRA:10002156 "Anal fistula" xref: SNOMEDCT_US:72779005 xref: UMLS:C0205929 is_a: HP:0034915 ! Abnormal anus morphology is_a: HP:0100819 ! Intestinal fistula property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T10:16:39Z [Term] id: HP:0010448 name: Colonic atresia def: "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon." [https://orcid.org/0000-0002-0736-9199] synonym: "Atresia of the large intestine" EXACT [] synonym: "Large intestinal atresia" EXACT [] xref: SNOMEDCT_US:37054000 xref: UMLS:C0266190 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0011100 ! Intestinal atresia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T10:23:09Z [Term] id: HP:0010450 name: Esophageal stenosis def: "An abnormal narrowing of the lumen of the esophagus." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of the esophagus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Narrowing of the oesophagus" EXACT uk_spelling [] xref: SNOMEDCT_US:63305008 xref: UMLS:C0014866 is_a: HP:0002031 ! Abnormal esophagus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T10:42:33Z [Term] id: HP:0010451 name: Aplasia/Hypoplasia of the spleen def: "Absence or underdevelopment of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023823 is_a: HP:0025408 ! Abnormal spleen morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T10:48:29Z [Term] id: HP:0010452 name: Ectopia of the spleen def: "An abnormal (non-anatomic) location of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal spleen location" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ectopic spleen" EXACT [] xref: SNOMEDCT_US:65146007 xref: UMLS:C0266632 is_a: HP:0025408 ! Abnormal spleen morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T10:51:09Z [Term] id: HP:0010453 name: Pelvic bone asymmetry def: "Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetric pelvis" EXACT [] synonym: "Pelvic asymmetry" BROAD [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4021263 is_a: HP:0040163 ! Abnormal pelvis bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T11:01:50Z [Term] id: HP:0010454 name: Acetabular spurs def: "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C3808270 is_a: HP:0003170 ! Abnormal acetabulum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T11:15:40Z [Term] id: HP:0010455 name: Steep acetabular roof def: "An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3150931 is_a: HP:0003170 ! Abnormal acetabulum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-14T11:18:20Z [Term] id: HP:0010456 name: Abnormal greater sciatic notch morphology alt_id: HP:0030266 def: "An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of greater sciatic notch" EXACT [] synonym: "Abnormality of the greater sacrosciatic notch" EXACT [] synonym: "Abnormality of the sacroiliac notch" EXACT [] xref: UMLS:C4023822 is_a: HP:0002644 ! Abnormal pelvic girdle bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:14:32Z [Term] id: HP:0010457 name: obsolete Widening of the sacrosciatic notch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0008798 creation_date: 2009-09-15T08:16:32Z [Term] id: HP:0010458 name: Female pseudohermaphroditism def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:8800006 xref: UMLS:C0238394 is_a: HP:0000055 ! Abnormal female external genitalia morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:21:32Z [Term] id: HP:0010459 name: True hermaphroditism alt_id: HP:0003242 def: "The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism." [https://orcid.org/0000-0002-0736-9199, PMID:11327376] comment: In true hermaphroditism, the testicular tissue must have well developed seminiferous tubules, and the ovarian tissue primordial follicles. The external genitalia are usually associated with variable degrees of sexual ambiguity, depending on the amount of functioning testicular tissue. Internally, a uterus is almost always present, but the development of Mullerian and Wolffian structures is variable and generally depends on the adjacent gonad. Usually there is a vas deferens on the side of the testis, and a Fallopian tube on the side of the ovary. Both types of ducts can occur next to an ovotestis. An ovotestis is the most common gonad found in true hermaphroditism and can be coded with HP:0012861. synonym: "Testicular and ovarian tissue present" EXACT [] xref: SNOMEDCT_US:18978002 xref: UMLS:C0266361 is_a: HP:0000062 ! Ambiguous genitalia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:28:15Z [Term] id: HP:0010460 name: Abnormality of the female genitalia def: "Abnormality of the female genital system." [https://orcid.org/0000-0002-0736-9199] comment: Abnormality of the female internal or external genitalia. xref: UMLS:C4023820 is_a: HP:0012243 ! Abnormal reproductive system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:32:09Z [Term] id: HP:0010461 name: Abnormality of the male genitalia def: "Abnormality of the male genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal male genitals" EXACT layperson [] synonym: "Abnormality of the male genitalia" EXACT layperson [] xref: UMLS:C4023819 is_a: HP:0012243 ! Abnormal reproductive system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:33:20Z [Term] id: HP:0010462 name: Aplasia/Hypoplasia of the ovary def: "Aplasia or developmental hypoplasia of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small ovary" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped ovary" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023818 is_a: HP:0031065 ! Abnormal ovarian morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:38:35Z [Term] id: HP:0010463 name: Aplasia of the ovary def: "Aplasia, that is failure to develop, of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent ovary" EXACT layperson [] synonym: "Aplasia of the ovaries" RELATED [] synonym: "Bilateral absent ovaries" RELATED [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:12017008 xref: UMLS:C0266368 is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:40:06Z [Term] id: HP:0010464 name: Streak ovary def: "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:70550008 xref: UMLS:C0266371 is_a: HP:0008724 ! Hypoplasia of the ovary property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:42:35Z [Term] id: HP:0010465 name: Precocious puberty in females def: "The onset of puberty before the age of 8 years in girls." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:19911007 xref: UMLS:C0271616 is_a: HP:0000826 ! Precocious puberty property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T08:48:42Z [Term] id: HP:0010468 name: Aplasia/Hypoplasia of the testes def: "Absence or underdevelopment of the testes." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small testes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped testes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023817 is_a: HP:0045058 ! Abnormality of the testis size property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T09:28:46Z [Term] id: HP:0010469 name: Absent testis def: "Testis not palpable in the scrotum or inguinal canal." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. synonym: "Absence of palpable testicules" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Absent testes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the testes" EXACT [] xref: UMLS:C4023816 is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T09:29:16Z [Term] id: HP:0010470 name: Supernumerary testes def: "The presence of more than two testes." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra testes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Polyorchidism" EXACT [] xref: SNOMEDCT_US:17471001 xref: UMLS:C0266430 is_a: HP:0000035 ! Abnormal testis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T09:34:18Z [Term] id: HP:0010471 name: Oligosacchariduria def: "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023815 is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T09:48:34Z [Term] id: HP:0010472 name: Abnormal circulating porphyrin concentration def: "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023814 is_a: HP:0430071 ! Abnormal circulating organic compound concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T09:53:11Z [Term] id: HP:0010473 name: Porphyrinuria def: "Abnormally increased excretion of porphyrins in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme. xref: SNOMEDCT_US:44574006 xref: UMLS:C0151861 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T09:57:34Z [Term] id: HP:0010474 name: Bladder stones def: "Buildups of minerals that form in the urinary bladder." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:70650003 xref: UMLS:C0005683 is_a: HP:0025487 ! Abnormal bladder morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T10:03:20Z [Term] id: HP:0010475 name: Cloacal exstrophy def: "Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:20815007 xref: UMLS:C0345217 is_a: HP:0012620 ! Cloacal abnormality is_a: HP:0100548 ! Exstrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T10:08:32Z [Term] id: HP:0010476 name: Aplasia/Hypoplasia of the bladder def: "Absence or underdevelopment of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small bladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped bladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023813 is_a: HP:0025487 ! Abnormal bladder morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T10:09:48Z [Term] id: HP:0010477 name: Aplasia of the bladder def: "Aplasia (absence) of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent bladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023812 is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T10:10:19Z [Term] id: HP:0010478 name: Abnormality of the urachus def: "Abnormality of the urachus." [https://orcid.org/0000-0002-0736-9199] comment: The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord. xref: UMLS:C4023811 is_a: HP:0025487 ! Abnormal bladder morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T10:13:04Z [Term] id: HP:0010479 name: Patent urachus def: "Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus." [https://orcid.org/0000-0002-0736-9199] synonym: "Persistent urachus" EXACT [] xref: SNOMEDCT_US:398316009 xref: UMLS:C0266357 is_a: HP:0010478 ! Abnormality of the urachus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T10:15:17Z [Term] id: HP:0010480 name: Urethral fistula def: "The presence of an abnormal connection between the urethra and another organ or the skin." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:14981000 xref: UMLS:C0041970 is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0100589 ! Urogenital fistula property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T10:37:37Z [Term] id: HP:0010481 name: Urethral valve def: "The presence of an abnormal membrane obstructing the urethra." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:297163001 xref: UMLS:C0266345 is_a: HP:0000796 ! Urethral obstruction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-15T10:38:46Z [Term] id: HP:0010482 name: Acromelia of the upper limbs def: "Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023810 is_a: HP:0010884 ! Acromelia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T08:56:43Z [Term] id: HP:0010483 name: Amniotic constriction rings of arms def: "Amniotic constriction rings affecting the arms." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023809 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009775 ! Amniotic constriction ring property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T09:15:05Z [Term] id: HP:0010484 name: Hypertrophy of the upper limb def: "Abnormal increase in size of the upper limbs (due to an increase of the size of cells)." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased size of upper limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:298745009 xref: UMLS:C0575518 is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T09:23:57Z [Term] id: HP:0010485 name: Hyperextensibility at elbow def: "The ability of the elbow joint to move beyond its normal range of motion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023808 is_a: HP:0430046 ! Small joint hypermobilty property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T10:05:52Z [Term] id: HP:0010486 name: Abnormality of the hypothenar eminence def: "An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023807 is_a: HP:0001421 ! Abnormality of the musculature of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T10:38:43Z [Term] id: HP:0010487 name: Small hypothenar eminence alt_id: HP:0005721 def: "Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Hypoplasia of the hypothenar eminence" EXACT [] synonym: "Hypothenar hypoplasia" EXACT [] xref: UMLS:C1861395 is_a: HP:0010486 ! Abnormality of the hypothenar eminence property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T10:40:18Z [Term] id: HP:0010488 name: Aplasia/Hypoplasia of the palmar creases def: "Absence or underdevelopment of the palmar creases." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small palm crease" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped palm crease" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023806 is_a: HP:0010490 ! Abnormality of the palmar creases property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T10:53:24Z [Term] id: HP:0010489 name: Absent palmar crease def: "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Absence of the palmar creases" EXACT [] synonym: "Absent palm lines" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the palmar creases" EXACT [] xref: UMLS:C4021262 is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T10:54:09Z [Term] id: HP:0010490 name: Abnormality of the palmar creases def: "An abnormality of the creases of the skin of palm of hand." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the palm lines" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205557000 xref: UMLS:C0221199 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T10:54:52Z [Term] id: HP:0010491 name: Digital constriction ring def: "A narrow segment of significantly reduced circumference of a digit." [PMID:19125433] comment: The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit. subset: hposlim_core synonym: "Amniotic constriction rings of digits" EXACT [] xref: UMLS:C4021261 is_a: HP:0009775 ! Amniotic constriction ring property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T11:08:16Z [Term] id: HP:0010492 name: Osseous finger syndactyly def: "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones." [https://orcid.org/0009-0006-4530-3154] comment: Bony fusions are referred to as bony syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as symphalangism. subset: hposlim_core synonym: "Osseous syndactyly of the fingers" EXACT [] xref: SNOMEDCT_US:2560006 xref: UMLS:C0158736 is_a: HP:0006101 ! Finger syndactyly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-16T11:20:38Z [Term] id: HP:0010493 name: Long metacarpals def: "An abnormally increased length of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Elongated long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased length of metacarpals" EXACT [] xref: UMLS:C4021260 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-17T10:25:37Z [Term] id: HP:0010494 name: Acromelia of the lower limbs def: "Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023805 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0010884 ! Acromelia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-17T11:04:51Z [Term] id: HP:0010495 name: Amniotic constriction rings of legs def: "Amniotic constriction rings affecting the legs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023804 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009775 ! Amniotic constriction ring property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-17T11:07:10Z [Term] id: HP:0010496 name: Hypertrophy of the lower limb def: "Abnormal increase in size of the lower limbs (due to an increase of the size of cells)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023803 is_a: HP:0002814 ! Abnormality of the lower limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-17T11:08:38Z [Term] id: HP:0010497 name: Sirenomelia def: "A developmental defect in which the legs are fused together." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Sympodia" RELATED [] xref: MEDDRA:10049216 "Sympodia" xref: SNOMEDCT_US:253191000 xref: SNOMEDCT_US:67254002 xref: SNOMEDCT_US:91089008 xref: UMLS:C0037205 is_a: HP:0002814 ! Abnormality of the lower limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-17T11:11:10Z [Term] id: HP:0010498 name: Bipartite patella def: "A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:79214007 xref: UMLS:C0265666 is_a: HP:0003045 ! Abnormal patella morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-17T11:39:39Z [Term] id: HP:0010499 name: Patellar subluxation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella." [https://orcid.org/0000-0002-0736-9199] synonym: "Partial knee cap dislocation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subluxation of patella" EXACT [] xref: UMLS:C0857276 is_a: HP:0003045 ! Abnormal patella morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-17T11:46:41Z [Term] id: HP:0010500 name: Hyperextensibility of the knee def: "The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023802 is_a: HP:0034670 ! Abnormal knee physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:44:04Z [Term] id: HP:0010501 name: Limitation of knee mobility alt_id: HP:0005030 alt_id: HP:0005192 def: "An abnormal limitation of knee joint mobility." [https://orcid.org/0000-0002-0736-9199] comment: The knee permits four types of movement: (i) Extension (straightening the lower leg); (ii) Flexion (bending the knee); (iii) Lateral rotation (turning outwards); and (iv) Medial rotation (turning inward) synonym: "Limitation of knee mobility" EXACT layperson [] synonym: "Limited knee movement" EXACT layperson [] xref: UMLS:C4021259 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0034670 ! Abnormal knee physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:44:33Z [Term] id: HP:0010502 name: Fibular bowing def: "A bending or abnormal curvature of the fibula." [https://orcid.org/0000-0002-0736-9199] comment: A developmental defect with posteromedial fibular angulation. synonym: "Bowed calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023801 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002991 ! Abnormal fibula morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:45:18Z [Term] id: HP:0010503 name: Fibular duplication def: "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Duplicated calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3276742 is_a: HP:0002991 ! Abnormal fibula morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:45:58Z [Term] id: HP:0010504 name: Increased length of the tibia def: "An abnormal increase in the length of the tibia." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased length of shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased length of shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021864 is_a: HP:0002992 ! Abnormal tibia morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:46:37Z [Term] id: HP:0010505 name: Limitation of movement at ankles def: "An abnormal limitation of the mobility of the ankle joint." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023800 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0034674 ! Abnormal ankle physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:47:11Z [Term] id: HP:0010506 name: Abnormal plantar dermatoglyphics def: "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal dermatoglyphics on feet" EXACT [] synonym: "Abnormal prints on feet" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021258 is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:47:44Z [Term] id: HP:0010507 name: Foot asymmetry def: "A difference in size or shape between the left and right foot." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023799 is_a: HP:0001760 ! Abnormal foot morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:49:04Z [Term] id: HP:0010508 name: Metatarsus valgus def: "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4082144 is_a: HP:0001832 ! Abnormal metatarsal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T09:59:48Z [Term] id: HP:0010509 name: Aplasia of the tarsal bones def: "Absence of the tarsal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent ankle bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent tarsals" EXACT [] xref: UMLS:C4021257 is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T10:05:13Z [Term] id: HP:0010510 name: Hypermobility of toe joints def: "An ability of the toe joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023798 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T10:15:12Z [Term] id: HP:0010511 name: Long toe def: "Toes that appear disproportionately long compared to the foot." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. subset: hposlim_core synonym: "Increased length of toes" EXACT layperson [] synonym: "Long toe" EXACT layperson [] synonym: "Long toes" EXACT layperson [] xref: UMLS:C3150613 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T10:40:43Z [Term] id: HP:0010512 name: Adrenal calcification def: "Calcification within the adrenal glands." [https://orcid.org/0000-0002-0736-9199] comment: This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts. xref: SNOMEDCT_US:12286000 xref: UMLS:C0271750 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0011732 ! Abnormal adrenal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T03:34:26Z [Term] id: HP:0010513 name: Pituitary calcification def: "Deposition of calcium salts in the pituitary gland." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023797 is_a: HP:0011747 ! Abnormality of the anterior pituitary is_a: HP:0430048 ! Intracranial calcification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T04:09:21Z [Term] id: HP:0010514 name: Hyperpituitarism def: "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:10649000 xref: UMLS:C0020506 is_a: HP:0011747 ! Abnormality of the anterior pituitary property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T04:14:54Z [Term] id: HP:0010515 name: Aplasia/Hypoplasia of the thymus def: "Absence or underdevelopment of the thymus." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped thymus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Thymic hypoplasia or aplasia" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3278004 xref: UMLS:C4023796 is_a: HP:0000777 ! Abnormal thymus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T04:21:24Z [Term] id: HP:0010516 name: Thymus hyperplasia def: "Enlargement of the thymus." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged thymus" EXACT layperson [] synonym: "Thymic hyperplasia" EXACT [] xref: UMLS:C0040115 is_a: HP:0000777 ! Abnormal thymus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T04:23:10Z [Term] id: HP:0010517 name: Ectopic thymus tissue def: "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal thymus position" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023795 is_a: HP:0000777 ! Abnormal thymus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T04:30:35Z [Term] id: HP:0010518 name: Thyroglossal cyst def: "An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct." [https://orcid.org/0000-0002-0736-9199] comment: A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst. subset: hposlim_core synonym: "Thyroglossal duct cyst" EXACT [] xref: SNOMEDCT_US:39462005 xref: UMLS:C0040124 is_a: HP:0011772 ! Abnormal thyroid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-19T04:38:04Z [Term] id: HP:0010519 name: Increased fetal movement def: "An abnormal increase in quantity or strength of fetal movements." [https://orcid.org/0000-0002-0736-9199] synonym: "Fetal hyperkinesia" EXACT [] synonym: "Foetal hyperkinesia" EXACT uk_spelling [] synonym: "Increased foetal movement" EXACT uk_spelling [] xref: UMLS:C4021256 is_a: HP:0001557 ! Prenatal movement abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T10:44:15Z [Term] id: HP:0010521 name: Gait apraxia def: "Gait apraxia affecting the ability to make walking movements with the legs." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:30767006 xref: UMLS:C1510417 is_a: HP:0001288 ! Gait disturbance is_a: HP:0002186 ! Apraxia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T11:01:35Z [Term] id: HP:0010522 name: Dyslexia alt_id: HP:0006871 def: "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [https://orcid.org/0000-0002-0736-9199] synonym: "Reading disability" EXACT layperson [] xref: SNOMEDCT_US:52824009 xref: SNOMEDCT_US:59770006 xref: SNOMEDCT_US:9236007 xref: UMLS:C0476254 is_a: HP:0001328 ! Specific learning disability property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T11:19:24Z [Term] id: HP:0010523 name: Alexia def: "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [https://orcid.org/0000-0002-0736-9199] comment: Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed. synonym: "Text blindness" EXACT layperson [] synonym: "Word blindness" EXACT layperson [] xref: SNOMEDCT_US:9236007 xref: UMLS:C0002018 is_a: HP:0002167 ! Abnormal speech pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T11:27:07Z [Term] id: HP:0010524 name: Disturbed sensory perception def: "Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences." [] synonym: "Agnosia" EXACT [] xref: SNOMEDCT_US:42341009 xref: UMLS:C0001816 is_a: HP:5200204 ! Disturbed perception with a stimulus property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T11:33:03Z [Term] id: HP:0010525 name: Finger agnosia def: "The examiner identified the inability to name, move, or touch specific fingers." [] xref: SNOMEDCT_US:3449007 xref: UMLS:C0234509 is_a: HP:0010524 ! Disturbed sensory perception property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T11:37:33Z [Term] id: HP:0010526 name: Dysgraphia def: "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Agraphia" RELATED [] xref: SNOMEDCT_US:88278002 xref: UMLS:C0234144 is_a: HP:0002167 ! Abnormal speech pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T11:40:43Z [Term] id: HP:0010527 name: Astereognosis def: "Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition." [] synonym: "Astereognosis" EXACT [] synonym: "Somatosensory agnosia" EXACT [] xref: SNOMEDCT_US:25094008 xref: UMLS:C0234505 is_a: HP:5200406 ! Tactile agnosia property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T11:41:58Z [Term] id: HP:0010528 name: Prosopagnosia def: "Inability to recognize faces of familiar persons." [] synonym: "Face blindness" EXACT layperson [] synonym: "Facial agnosia" EXACT [] xref: SNOMEDCT_US:18358003 xref: UMLS:C0234512 is_a: HP:0010524 ! Disturbed sensory perception property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T11:45:49Z [Term] id: HP:0010529 name: Echolalia def: "Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented." [PMID:31651053] synonym: "Echoing another person's speech" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-6548-5200, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Echologia" EXACT [https://orcid.org/0000-0001-6908-9849, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Echophrasia" EXACT [https://orcid.org/0000-0001-6908-9849, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Repeated speech" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:64712007 xref: UMLS:C0013528 xref: UMLS:C4280380 is_a: HP:4000074 ! Involuntary vocalization property_value: terms:contributor https://orcid.org/0000-0001-5395-5036 property_value: terms:contributor https://orcid.org/0000-0001-6886-767X property_value: terms:contributor https://orcid.org/0000-0001-8423-2623 property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0001-9114-8737 property_value: terms:contributor https://orcid.org/0000-0002-0375-6247 property_value: terms:contributor https://orcid.org/0000-0002-2414-5605 property_value: terms:contributor https://orcid.org/0000-0002-2592-4715 property_value: terms:contributor https://orcid.org/0000-0002-4487-3589 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T08:17:27Z [Term] id: HP:0010530 name: Palatal tremor def: "Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral." [https://orcid.org/0000-0002-0736-9199, PMID:33101766] comment: Previously, PT was known as palatal myoclonus but it was subsequently renamed palatal tremor during the First International Congress of Movement Disorders to acknowledge the continuous and rhythmic nature of the palatal movement. Palatal tremors do not oscillate around a point, unlike any other type of tremor. Palatal tremors can have huge variability in frequency, unlike other commonly-described tremors. synonym: "Palatal myoclonus" EXACT [] xref: SNOMEDCT_US:9366002 xref: UMLS:C0030214 is_a: HP:0001336 ! Myoclonus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T08:50:17Z [Term] id: HP:0010531 name: Spinal myoclonus def: "Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:698836007 xref: UMLS:C3697670 is_a: HP:0001336 ! Myoclonus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T08:53:39Z [Term] id: HP:0010532 name: Paroxysmal vertigo def: "Paroxysmal episodes of vertigo." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:103290003 xref: UMLS:C0522357 is_a: HP:0002321 ! Vertigo property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T09:12:15Z [Term] id: HP:0010533 name: Spasmus nutans def: "The combination of pendular nystagmus, head nodding, and torticollis." [https://orcid.org/0000-0002-0736-9199, PMID:7499100] xref: SNOMEDCT_US:18191000 xref: UMLS:C0546878 is_a: HP:0012043 ! Pendular nystagmus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T09:19:57Z [Term] id: HP:0010534 name: Transient global amnesia def: "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:230736007 xref: UMLS:C0338591 is_a: HP:0002354 ! Memory impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-20T09:33:50Z [Term] id: HP:0010535 name: Sleep apnea def: "An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [] synonym: "Pauses in breathing while sleeping" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Sleep apnea" EXACT [] synonym: "Sleep apnoea" EXACT [] xref: SNOMEDCT_US:73430006 xref: UMLS:C0037315 is_a: HP:5200283 ! Sleep-related breathing disorders property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-21T08:53:35Z [Term] id: HP:0010536 name: Central sleep apnea def: "Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing." [PMID:35551411, PMID:36031317] synonym: "Central sleep apnoea" EXACT [] xref: UMLS:C0520680 is_a: HP:0010535 ! Sleep apnea property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-21T08:57:02Z [Term] id: HP:0010537 name: Wide cranial sutures def: "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Broad cranial sutures" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Diastasis of cranial sutures" EXACT [] synonym: "Large cranial suture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "open cranial sutures" EXACT [] synonym: "Persistent open cranial sutures" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Sutural diastasis" EXACT [] synonym: "Widened cranial sutures" EXACT [] xref: SNOMEDCT_US:268855009 xref: UMLS:C0410935 is_a: HP:0011329 ! Abnormality of cranial sutures property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-21T09:50:28Z [Term] id: HP:0010538 name: Small sella turcica def: "An abnormally small sella turcica." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplasia of hypophseal fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of pituitary fossa" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of sella turcica" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small hypophyseal fossa" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small pituitary fossa" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023794 xref: UMLS:C4072875 xref: UMLS:C4072876 is_a: HP:0002679 ! Abnormal sella turcica morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-21T10:19:05Z [Term] id: HP:0010539 name: Thin calvarium def: "The presence of an abnormally thin calvarium." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Thin cranial bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin skull bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856231 xref: UMLS:C4280379 is_a: HP:0002683 ! Abnormal calvaria morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-21T10:21:29Z [Term] id: HP:0010540 name: Advanced pneumatization of cranial sinuses def: "A degree of pneumatization that is increased compared to age-related norms." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023793 is_a: HP:0000245 ! Abnormal paranasal sinus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-23T10:04:21Z [Term] id: HP:0010541 name: Cutis gyrata of scalp def: "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." [https://orcid.org/0000-0002-0736-9199] synonym: "Cutis verticis gyrata" EXACT [] synonym: "Furrows in thickened skin on top of scalp" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Scalp folds" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Scalp furrows" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Scalp rugae" EXACT [] synonym: "Thickened folds on top of scalp" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thickening of the scalp" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:51603000 xref: UMLS:C0263417 xref: UMLS:C4072877 xref: UMLS:C4280378 is_a: HP:0001965 ! Abnormal scalp morphology is_a: HP:0011356 ! Regional abnormality of skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-23T10:15:33Z [Term] id: HP:0010542 name: Vestibular nystagmus def: "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:46888001 xref: UMLS:C0155379 is_a: HP:0000639 ! Nystagmus is_a: HP:0031910 ! Abnormal cranial nerve physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-23T10:38:28Z [Term] id: HP:0010543 name: Opsoclonus def: "Bursts of large-amplitude multidirectional saccades without intersaccadic interval" [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] comment: Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude. xref: SNOMEDCT_US:194177006 xref: UMLS:C0242567 is_a: HP:0012547 ! Abnormal involuntary eye movements is_a: HP:0032104 ! Saccadic oscillation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-23T10:40:51Z [Term] id: HP:0010544 name: Vertical nystagmus def: "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:111533001 xref: UMLS:C0271386 is_a: HP:0000639 ! Nystagmus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-23T10:45:18Z [Term] id: HP:0010545 name: Downbeat nystagmus def: "Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone." [https://orcid.org/0000-0002-0736-9199, PMID:21505601] xref: SNOMEDCT_US:307676006 xref: UMLS:C0585544 is_a: HP:0010544 ! Vertical nystagmus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-23T10:47:44Z [Term] id: HP:0010546 name: Muscle fibrillation def: "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG." [https://orcid.org/0000-0002-0736-9199] synonym: "EMG: fibrillations on electromyogram" EXACT [] synonym: "Twitching" RELATED layperson [] xref: SNOMEDCT_US:41405005 xref: UMLS:C0231531 is_a: HP:0100022 ! Abnormality of movement property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-29T08:23:48Z [Term] id: HP:0010547 name: Muscle flaccidity def: "A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:186611004 xref: SNOMEDCT_US:397488002 xref: UMLS:C0026825 is_a: HP:0001324 ! Muscle weakness property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-09-29T09:21:45Z [Term] id: HP:0010548 name: Percussion myotonia alt_id: HP:0004304 def: "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object)." [https://orcid.org/0000-0002-0736-9199] synonym: "Transient swelling of muscle induced by percussion" EXACT [] xref: UMLS:C0751359 is_a: HP:0002486 ! Myotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-01T08:15:50Z [Term] id: HP:0010549 name: Weakness due to upper motor neuron dysfunction def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons." [https://orcid.org/0000-0002-0736-9199] synonym: "Paralysis due to lesions of the principle motor tracts" EXACT [] xref: UMLS:C4021255 is_a: HP:0002493 ! Upper motor neuron dysfunction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-01T08:30:25Z [Term] id: HP:0010550 name: Paraplegia def: "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Leg paralysis" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:60389000 xref: UMLS:C0030486 is_a: HP:0010551 ! Paraplegia/paraparesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-01T08:32:57Z [Term] id: HP:0010551 name: Paraplegia/paraparesis def: "Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023792 is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-01T08:36:05Z [Term] id: HP:0010553 name: Oculogyric crisis def: "An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:5332004 xref: UMLS:C0085637 is_a: HP:0001332 ! Dystonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-01T08:56:39Z [Term] id: HP:0010554 name: Cutaneous finger syndactyly alt_id: HP:0001214 alt_id: HP:0005637 alt_id: HP:0006054 alt_id: HP:0006220 def: "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers." [PMID:19125433] comment: We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly. subset: hposlim_core synonym: "Cutaneous syndactyly of fingers" EXACT [] synonym: "Cutaneous syndactyly of hands" EXACT [] synonym: "Webbed fingers" EXACT layperson [PMID:16200145] synonym: "Webbed skin of fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021254 is_a: HP:0006101 ! Finger syndactyly is_a: HP:0012725 ! Cutaneous syndactyly property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-07T10:59:57Z [Term] id: HP:0010557 name: Overlapping fingers def: "A finger resting on the dorsal surface of an adjacent digit when the hand is at rest." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly. subset: hposlim_core xref: UMLS:C1446712 is_a: HP:0004097 ! Deviation of finger property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-13T09:21:52Z [Term] id: HP:0010558 name: Abnormality of the clivus def: "An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023791 is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-14T09:37:19Z [Term] id: HP:0010559 name: Vertical clivus def: "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1844702 is_a: HP:0010558 ! Abnormality of the clivus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-14T09:39:04Z [Term] id: HP:0010560 name: Undulate clavicles def: "An abnormally wavy surface or edge of the clavicles." [https://orcid.org/0000-0002-0736-9199] synonym: "Wavy clavicles" EXACT [] synonym: "Wavy collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021253 is_a: HP:0000889 ! Abnormal clavicle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-14T09:52:46Z [Term] id: HP:0010561 name: Undulate ribs def: "An abnormally wavy surface or edge of the ribs." [https://orcid.org/0000-0002-0736-9199] synonym: "Wavy ribs" EXACT layperson [] xref: UMLS:C1969185 is_a: HP:0000772 ! Abnormal rib morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-14T09:56:07Z [Term] id: HP:0010562 name: Keloids subset: hposlim_core xref: MEDDRA:10023330 "Keloid scar" xref: SNOMEDCT_US:33659008 xref: SNOMEDCT_US:58405006 xref: UMLS:C0022548 is_a: HP:0000987 ! Atypical scarring of skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-15T07:39:56Z [Term] id: HP:0010564 name: Bifid epiglottis def: "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:232412004 xref: UMLS:C0339864 is_a: HP:0005483 ! Abnormal epiglottis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-16T02:20:48Z [Term] id: HP:0010565 name: Aplasia/Hypoplasia of the Epiglottis def: "This term applies if the Epiglottis is absent or hypoplastic." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023790 is_a: HP:0005483 ! Abnormal epiglottis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-16T02:27:31Z [Term] id: HP:0010566 name: Hamartoma def: "A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:400006008 xref: SNOMEDCT_US:51398009 xref: UMLS:C0018552 is_a: HP:0011792 ! Neoplasm by histology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-16T02:51:16Z [Term] id: HP:0010567 name: Y-shaped metatarsals def: "Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly." [https://orcid.org/0000-0002-0736-9199] synonym: "Y-shaped long bone of foot" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023789 is_a: HP:0001832 ! Abnormal metatarsal morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-16T06:50:11Z [Term] id: HP:0010568 name: Hamartoma of the eye def: "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023788 is_a: HP:0030670 ! Hamartoma of the orbital region is_a: HP:0100012 ! Neoplasm of the eye property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-17T12:57:24Z [Term] id: HP:0010569 name: Elevated circulating 7-dehydrocholesterol concentration def: "Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] comment: Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome. synonym: "Elevated levels of cholesta-5,7-dien-3beta-ol" EXACT [] xref: UMLS:C1849185 is_a: HP:0034934 ! Abnormal circulating 7-dehydrocholesterol concentration property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-19T08:49:58Z [Term] id: HP:0010570 name: Low maternal circulating alpha-fetoprotein concentration def: "An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age." [https://orcid.org/0000-0002-0736-9199] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "Low maternal serum alpha-fetoprotein" EXACT layperson [] xref: UMLS:C4023787 is_a: HP:0011436 ! Abnormal maternal serum screening property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-20T07:01:24Z [Term] id: HP:0010571 name: Elevated circulating phytanic acid concentration def: "An abnormal elevation of phytanic acid." [https://orcid.org/0000-0002-0736-9199] comment: Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things. synonym: "Elevated level of phytanic acid" EXACT [] synonym: "Elevated levels of phytanic acid" EXACT layperson [] xref: UMLS:C4023786 is_a: HP:0010965 ! Abnormal circulating phytanic acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-20T07:19:29Z [Term] id: HP:0010574 name: Abnormality of the epiphysis of the femoral head alt_id: HP:0010589 def: "Any abnormality of the proximal epiphysis of the femur." [https://orcid.org/0009-0006-4530-3154] comment: Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head. synonym: "Abnormality of the end part of the innermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the proximal femoral epiphysis" EXACT [] xref: UMLS:C4021252 is_a: HP:0003368 ! Abnormal femoral head morphology is_a: HP:0006499 ! Abnormal femoral epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-21T01:28:23Z [Term] id: HP:0010575 name: Dysplasia of the femoral head def: "The presence of developmental dysplasia of the femoral head." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of femoral head development" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Dysplastic femoral head" EXACT [] xref: UMLS:C4021251 xref: UMLS:C4280377 is_a: HP:0003368 ! Abnormal femoral head morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-21T01:30:40Z [Term] id: HP:0010576 name: Intracranial cystic lesion def: "A cystic lesion originating within the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebral cystic malformation" EXACT [] xref: UMLS:C4021250 is_a: HP:0030724 ! Central nervous system cyst property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T01:38:49Z [Term] id: HP:0010577 name: Absent epiphyses synonym: "Absent end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021862 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010578 name: Bracket epiphyses synonym: "Bracket shaped end part of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023785 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010579 name: Cone-shaped epiphysis alt_id: HP:0000937 alt_id: HP:0006078 def: "Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery." [https://orcid.org/0000-0002-0736-9199] synonym: "Cone-shaped end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cone-shaped epiphyses" EXACT [] synonym: "Coned epiphyses" EXACT [] xref: UMLS:C1865037 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010580 name: Enlarged epiphyses alt_id: HP:0003018 alt_id: HP:0003055 alt_id: HP:0005082 def: "Increased size of epiphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Large end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Large epiphyses" EXACT [] synonym: "Widened, distorted epiphyses" EXACT [] xref: UMLS:C1833328 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010582 name: Irregular epiphyses alt_id: HP:0002765 alt_id: HP:0003039 alt_id: HP:0005007 alt_id: HP:0005023 alt_id: HP:0005749 alt_id: HP:0010581 def: "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular end part of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846449 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010583 name: Ivory epiphyses def: "Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [https://orcid.org/0009-0006-4530-3154] synonym: "Epiphyseal sclerosis" EXACT [] synonym: "Increased bone density in end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856911 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010584 name: Pseudoepiphyses xref: UMLS:C1841685 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010585 name: Small epiphyses alt_id: HP:0005730 def: "Reduction in the size or volume of epiphyses." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846803 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010587 name: Triangular epiphysis def: "Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus." [PMID:24432108] synonym: "Longitudinal epiphyseal bracket" EXACT [] synonym: "Triangular end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Triangular epiphyses" EXACT plural_form [] xref: UMLS:C4023784 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010588 name: Premature epimetaphyseal fusion def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199, PMID:12624140] comment: The epiphysis is the rounded end of a long bone, at its joint with adjacent bone. synonym: "Premature closure of epiphyses" EXACT [] xref: SNOMEDCT_US:89493005 xref: UMLS:C0151628 is_a: HP:0005930 ! Abnormal epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010590 name: Abnormality of the distal femoral epiphysis def: "Any abnormality of the distal epiphysis of the femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the outermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023783 is_a: HP:0006499 ! Abnormal femoral epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T03:00:23Z [Term] id: HP:0010591 name: Abnormality of the proximal tibial epiphysis def: "Any abnormality of the proximal epiphysis of the tibia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of innermost shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of innermost shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023782 is_a: HP:0006508 ! Abnormality of tibial epiphyses property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T03:03:04Z [Term] id: HP:0010592 name: Abnormality of the distal tibial epiphysis synonym: "Abnormality of the end part of outermost shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the end part of outermost shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023781 is_a: HP:0006508 ! Abnormality of tibial epiphyses property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T03:03:04Z [Term] id: HP:0010593 name: Abnormal fibular epiphysis morphology synonym: "Abnormality of fibular epiphyses" EXACT [] synonym: "Abnormality of the end part of the calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023780 is_a: HP:0006500 ! Abnormal lower limb epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T03:03:34Z [Term] id: HP:0010594 name: Abnormality of the proximal fibular epiphysis def: "Any abnormality of the proximal epiphysis of the fibula." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the innermost end part of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023779 is_a: HP:0010593 ! Abnormal fibular epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T03:04:39Z [Term] id: HP:0010595 name: Abnormality of the distal fibular epiphysis def: "Any abnormality of the distal epiphysis of the fibula." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the outermost end part of calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023778 is_a: HP:0010593 ! Abnormal fibular epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T03:04:39Z [Term] id: HP:0010596 name: Abnormality of the proximal radial epiphysis def: "Any abnormality of the proximal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023777 is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow is_a: HP:0003999 ! Abnormality of radial epiphyses property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T03:06:29Z [Term] id: HP:0010597 name: Abnormality of the distal radial epiphysis def: "Any abnormality of the distal epiphysis of the radius." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023776 is_a: HP:0003999 ! Abnormality of radial epiphyses property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T03:06:29Z [Term] id: HP:0010598 name: Abnormality of the proximal humeral epiphysis def: "Any abnormality of the proximal epiphysis of the humerus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the innermost long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023775 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T06:40:29Z [Term] id: HP:0010599 name: Abnormality of the distal humeral epiphysis def: "Any abnormality of the distal epiphysis of the humerus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the outermost long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023774 is_a: HP:0003891 ! Abnormal humeral epiphysis morphology is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T06:40:29Z [Term] id: HP:0010600 name: Abnormal distal ulnar epiphysis morphology def: "Any abnormality of the distal epiphysis of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the distal ulnar epiphysis" EXACT [] xref: UMLS:C4023773 is_a: HP:0004037 ! Abnormal ulnar epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T06:41:21Z [Term] id: HP:0010601 name: Abnormal proximal ulnar epiphysis morphology def: "Any abnormality of the proximal epiphysis of the ulna." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the proximal ulnar epiphysis" EXACT [] xref: UMLS:C4023772 is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow is_a: HP:0004037 ! Abnormal ulnar epiphysis morphology property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-22T06:41:21Z [Term] id: HP:0010602 name: Type 2 muscle fiber predominance def: "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)." [https://orcid.org/0000-0002-0736-9199] synonym: "Type 2 muscle fibre predominance" EXACT uk_spelling [] synonym: "Type II muscle fiber predominance" EXACT [] synonym: "Type II muscle fibre predominance" EXACT uk_spelling [] xref: UMLS:C3277187 is_a: HP:0033684 ! Abnormal muscle fiber-type distribution property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-10-25T09:56:24Z [Term] id: HP:0010603 name: Odontogenic keratocysts of the jaw def: "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior." [https://orcid.org/0000-0002-0736-9199, PMID:18353202] comment: Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla. synonym: "Keratocystic odontogenic tumor" EXACT [] synonym: "Keratocystic odontogenic tumour" EXACT uk_spelling [] synonym: "Keratocysts of the jaw" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1708604 is_a: HP:0100612 ! Odontogenic neoplasm property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-27T02:26:31Z [Term] id: HP:0010604 name: Cyst of the eyelid synonym: "Cyst of the eyelid" EXACT layperson [] synonym: "Eyelid bump" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid mass" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lesion of the eyelid" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:248514008 xref: SNOMEDCT_US:301913002 xref: SNOMEDCT_US:46210008 xref: UMLS:C0155218 xref: UMLS:C0424844 xref: UMLS:C0578590 is_a: HP:0010732 ! Nodular changes affecting the eyelids is_a: HP:0200040 ! Epidermoid cyst property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-27T10:57:50Z [Term] id: HP:0010605 name: Chalazion def: "A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes." [https://orcid.org/0000-0002-0736-9199] synonym: "Meibomian gland lipogranuloma" EXACT [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:1482004 xref: UMLS:C0007933 is_a: HP:0010604 ! Cyst of the eyelid property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-27T10:58:24Z [Term] id: HP:0010606 name: Hordeolum def: "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling." [https://orcid.org/0009-0006-4530-3154] synonym: "Red bump on eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Stye of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:1489008 xref: SNOMEDCT_US:397513003 xref: UMLS:C0019917 xref: UMLS:C4280376 is_a: HP:0010732 ! Nodular changes affecting the eyelids property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-27T11:01:13Z [Term] id: HP:0010607 name: Hordeolum externum def: "Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:1489008 xref: UMLS:C0019919 is_a: HP:0010606 ! Hordeolum property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-27T11:33:07Z [Term] id: HP:0010608 name: Hordeolum internum def: "Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling." [https://orcid.org/0000-0002-0736-9199] synonym: "Red bump on inner eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Stye of inner eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:414521009 xref: UMLS:C0085690 xref: UMLS:C4280375 is_a: HP:0010606 ! Hordeolum property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-27T11:33:25Z [Term] id: HP:0010609 name: Skin tags def: "Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region." [https://orcid.org/0009-0006-4530-3154] synonym: "Acrochorda" EXACT [] xref: SNOMEDCT_US:201091002 xref: SNOMEDCT_US:31069005 xref: SNOMEDCT_US:80801001 xref: UMLS:C0037293 is_a: HP:0011355 ! Localized skin lesion property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-27T11:41:03Z [Term] id: HP:0010610 name: Palmar pits xref: SNOMEDCT_US:247449001 xref: UMLS:C0423776 is_a: HP:0040211 ! Abnormal skin morphology of the palm is_a: HP:0100276 ! Skin pit property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-28T01:23:05Z [Term] id: HP:0010612 name: Plantar pits def: "The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1852301 is_a: HP:0100276 ! Skin pit is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-28T01:25:57Z [Term] id: HP:0010614 name: Fibroma def: "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3041 xref: SNOMEDCT_US:112682009 xref: SNOMEDCT_US:424568000 xref: UMLS:C0016045 is_a: HP:0012316 ! Fibrous tissue neoplasm is_a: HP:0030448 ! Soft tissue sarcoma property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-28T05:52:39Z [Term] id: HP:0010615 name: Angiofibromas def: "Angiofibroma consist of many often dilated vessels." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3799 xref: SNOMEDCT_US:302857002 xref: SNOMEDCT_US:60392001 xref: UMLS:C0206731 is_a: HP:0010614 ! Fibroma property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-28T06:00:14Z [Term] id: HP:0010616 name: Lung fibroma def: "The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3041 xref: SNOMEDCT_US:707387004 xref: UMLS:C1334444 is_a: HP:0010614 ! Fibroma is_a: HP:0100526 ! Neoplasm of the lung property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-28T06:04:01Z [Term] id: HP:0010617 name: Cardiac fibroma def: "A fibroma of the heart." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3041 xref: UMLS:C1096654 is_a: HP:0010614 ! Fibroma is_a: HP:0100544 ! Neoplasm of the heart property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010618 name: Ovarian fibroma def: "The presence of a fibroma of the ovary." [https://orcid.org/0000-0002-0736-9199] comment: Ovarian fibromas belong to the sex cord-stromal tumor group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan. xref: NCIT:C3041 xref: SNOMEDCT_US:254865006 xref: UMLS:C0149951 is_a: HP:0010614 ! Fibroma is_a: HP:0100615 ! Ovarian neoplasm property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010619 name: Fibroadenoma of the breast def: "A benign biphasic tumor of the breast with epithelial and stromal components." [https://orcid.org/0000-0002-0736-9199, PMID:23396888] comment: A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman. synonym: "Breast fibroadenoma" EXACT [] synonym: "Breast fibroadenomas" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Breast fibroadenosis" EXACT [] synonym: "Fibroadenosis - breast" EXACT [] synonym: "Fibroadenosis of breast" EXACT [] xref: NCIT:C3744 xref: SNOMEDCT_US:254845004 xref: UMLS:C0178421 is_a: HP:0010614 ! Fibroma is_a: HP:0100013 ! Neoplasm of the breast property_value: dc:creator "sandra1" xsd:string creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010620 name: Malar prominence alt_id: HP:0000310 def: "Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face." [https://orcid.org/0000-0002-9602-2321] comment: Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle. subset: hposlim_core synonym: "Hyperplasia of malar bones" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malar excess" EXACT [] synonym: "Malar hyperplasia" EXACT [] synonym: "Prominent malar region" EXACT [] xref: UMLS:C1858732 xref: UMLS:C4280374 is_a: HP:0010668 ! Abnormal zygomatic bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-11-02T07:53:02Z [Term] id: HP:0010621 name: Cutaneous syndactyly of toes alt_id: HP:0001990 alt_id: HP:0004707 alt_id: HP:0010555 def: "A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Cutaneous syndactyly of feet" EXACT [] synonym: "soft tissue syndactyly of toes" EXACT [] synonym: "Webbed skin of toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1834737 is_a: HP:0001770 ! Toe syndactyly is_a: HP:0012725 ! Cutaneous syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-11-18T10:32:21Z [Term] id: HP:0010622 name: Neoplasm of the skeletal system def: "A tumor (abnormal growth of tissue) of the skeleton." [https://orcid.org/0000-0002-0736-9199] synonym: "Bone neoplasm" RELATED [] synonym: "Neoplasia of the skeletal system" NARROW [] synonym: "Skeletal tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Skeletal tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:442868003 xref: UMLS:C2732838 xref: UMLS:C4020771 is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0011842 ! Abnormal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-25T08:54:46Z [Term] id: HP:0010624 name: Aplastic/hypoplastic toenail alt_id: HP:0008381 alt_id: HP:0008389 def: "Absence or underdevelopment of the toenail." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic/hypoplastic toenails" EXACT [] synonym: "Hypoplastic-absent toenails" EXACT [] xref: UMLS:C1856749 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails is_a: HP:0008388 ! Abnormal toenail morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-11-20T05:55:11Z [Term] id: HP:0010625 name: Anterior pituitary dysgenesis def: "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Adenohypophysis" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:62818001 xref: UMLS:C0032008 xref: UMLS:C4023771 is_a: HP:0011747 ! Abnormality of the anterior pituitary property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-05T03:03:17Z [Term] id: HP:0010626 name: Anterior pituitary agenesis def: "Absence of the anterior pituitary gland resulting from a developmental defect." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-5316-1399] synonym: "Absent pituitary gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the pituitary gland" EXACT [] xref: UMLS:C4021249 is_a: HP:0010625 ! Anterior pituitary dysgenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-05T03:04:20Z [Term] id: HP:0010627 name: Anterior pituitary hypoplasia alt_id: HP:0008238 def: "Underdevelopment of the anterior pituitary gland." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of the pituitary gland" RELATED [] synonym: "Small anterior pituitary lobe" EXACT [] synonym: "Underdeveloped pituitary gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0948740 xref: UMLS:C1859775 is_a: HP:0010625 ! Anterior pituitary dysgenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-05T03:04:48Z [Term] id: HP:0010628 name: Facial palsy alt_id: HP:0000296 alt_id: HP:0000302 alt_id: HP:0000344 alt_id: HP:0000353 alt_id: HP:0002008 alt_id: HP:0002259 alt_id: HP:0002517 alt_id: HP:0004670 alt_id: HP:0007212 alt_id: HP:0200004 def: "Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form." [https://orcid.org/0009-0006-4530-3154] comment: Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis. subset: hposlim_core synonym: "Bell's palsy" EXACT layperson [] synonym: "Cranial nerve VII palsy" EXACT [] synonym: "Facial muscle weakness of muscles innervated by CN VII" RELATED [] synonym: "Facial nerve palsy" EXACT [] synonym: "Facial nerve paralysis" EXACT [] synonym: "Facial palsy, unilateral or bilateral" EXACT [] synonym: "Seventh cranial nerve palsy" EXACT [] synonym: "VII th cranial nerve palsy" EXACT [] xref: SNOMEDCT_US:193093009 xref: SNOMEDCT_US:95666008 xref: UMLS:C0376175 xref: UMLS:C0427055 xref: UMLS:C1858719 is_a: HP:0001324 ! Muscle weakness is_a: HP:0006824 ! Cranial nerve paralysis is_a: HP:0010827 ! Abnormal seventh cranial physiology is_a: HP:0030319 ! Weakness of facial musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T05:08:30Z [Term] id: HP:0010629 name: Abnormal morphology of the cortex of the humerus def: "Any abnormality affecting the cortex of the humerus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023770 is_a: HP:0003103 ! Abnormal cortical bone morphology is_a: HP:0031095 ! Abnormal humerus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T05:45:26Z [Term] id: HP:0010630 name: Abnormal metatarsal epiphysis morphology def: "Any abnormality of a metatarsal bone epiphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of end part of long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of metatarsal epiphysis" EXACT [] synonym: "Abnormality of the epiphyses of the metatarsals" EXACT [] xref: UMLS:C4021248 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0010631 ! Abnormality of the epiphyses of the feet property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T05:58:36Z [Term] id: HP:0010631 name: Abnormality of the epiphyses of the feet def: "Any abnormality of the epiphyses of the feet." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the end part of the foot bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023769 is_a: HP:0006500 ! Abnormal lower limb epiphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T06:00:04Z [Term] id: HP:0010632 name: Total anosmia def: "Inability to detect any qualitative olfactory sensation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023768 is_a: HP:0000458 ! Anosmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T07:51:50Z [Term] id: HP:0010633 name: Partial anosmia def: "Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023767 is_a: HP:0000458 ! Anosmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T07:52:37Z [Term] id: HP:0010634 name: Total hyposmia def: "Reduced ability to detect any qualitative olfactory sensation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023766 is_a: HP:0004409 ! Hyposmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T07:54:13Z [Term] id: HP:0010635 name: Partial hyposmia def: "Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023765 is_a: HP:0004409 ! Hyposmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T07:54:13Z [Term] id: HP:0010636 name: Schizencephaly def: "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:253159001 xref: SNOMEDCT_US:38353004 xref: UMLS:C0266484 is_a: HP:0002060 ! Abnormal cerebral morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-06T08:05:54Z [Term] id: HP:0010637 name: Conjunctival amyloidosis def: "A form of amyloidosis that affects the conjunctiva." [https://orcid.org/0000-0002-0736-9199] comment: The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue. xref: SNOMEDCT_US:59017008 xref: UMLS:C0268402 is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0011034 ! Amyloidosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2009-12-07T03:20:51Z [Term] id: HP:0010638 name: Elevated alkaline phosphatase of hepatic origin def: "An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated ALP of hepatic origin" EXACT abbreviation [] xref: UMLS:C4023764 is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010639 name: Elevated alkaline phosphatase of bone origin alt_id: HP:0008266 def: "An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme. synonym: "Elevated alkaline phosphatase of bone origin" EXACT layperson [] synonym: "Elevated ALP of bone origin" EXACT abbreviation [] synonym: "Increased serum bone-specific alkaline phosphatase" EXACT layperson [] xref: UMLS:C1833667 is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010640 name: Abnormal nasal cavity morphology def: "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the nasal cavity" EXACT [] xref: UMLS:C4023763 is_a: HP:0005105 ! Abnormal nasal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-12-17T04:56:17Z [Term] id: HP:0010641 name: Abnormality of the midnasal cavity def: "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4021861 is_a: HP:0010640 ! Abnormal nasal cavity morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-12-17T04:58:21Z [Term] id: HP:0010643 name: Midnasal atresia def: "Absence or abnormal closure of the midnasal cavity." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023762 is_a: HP:0010644 ! Midnasal stenosis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010644 name: Midnasal stenosis alt_id: HP:0010642 def: "Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress." [https://orcid.org/0000-0002-0736-9199] synonym: "Midnasal atresia or stenosis" EXACT [] xref: UMLS:C1840238 is_a: HP:0010641 ! Abnormality of the midnasal cavity property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010645 name: Aplasia of the distal phalanges of the toes def: "Absence of the distal phalanges of the toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent outermost bone of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023761 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010745 ! Aplasia of the phalanges of the toes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-17T02:41:47Z [Term] id: HP:0010646 name: Cervical spine instability def: "An abnormal lack of stability of the cervical spine." [https://orcid.org/0000-0002-0736-9199] comment: The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability. xref: SNOMEDCT_US:202821008 xref: UMLS:C0410652 is_a: HP:0003319 ! Abnormality of the cervical spine property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-23T11:15:32Z [Term] id: HP:0010647 name: Abnormal elasticity of skin def: "Any abnormal increase or reduction in skin elasticity." [https://orcid.org/0000-0003-1773-4011] xref: UMLS:C4023760 is_a: HP:0011121 ! Abnormal skin morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-23T11:42:34Z [Term] id: HP:0010648 name: Dermal translucency def: "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Translucent skin" EXACT [] xref: UMLS:C1836646 is_a: HP:0011121 ! Abnormal skin morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-23T11:50:37Z [Term] id: HP:0010649 name: Flat nasal alae def: "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)." [https://orcid.org/0000-0002-0736-9199] synonym: "Depressed nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023759 is_a: HP:0000429 ! Abnormal morphology of the nasal alae property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-25T10:01:47Z [Term] id: HP:0010650 name: Hypoplasia of the premaxilla def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436] subset: hposlim_core synonym: "Decreased size of premaxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary bone deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary bone retrusion" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary retrusion" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary underdevelopment" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Primary palate bone deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Primary palate bone retrusion" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of premaxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of the premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4020770 xref: UMLS:C4072878 is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-25T10:11:43Z [Term] id: HP:0010651 name: Abnormal meningeal morphology def: "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the meninges" EXACT [] xref: UMLS:C4023758 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-25T10:19:40Z [Term] id: HP:0010652 name: Abnormal dura mater morphology def: "An abnormality of the Dura mater." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the dura mater" EXACT [] xref: UMLS:C4023757 is_a: HP:0010651 ! Abnormal meningeal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-25T10:29:40Z [Term] id: HP:0010653 name: Abnormality of the falx cerebri def: "An abnormality of the Falx cerebri." [https://orcid.org/0000-0002-0736-9199] comment: The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. synonym: "Abnormality of the cerebral falx" EXACT [] xref: UMLS:C4021247 is_a: HP:0010652 ! Abnormal dura mater morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-25T10:32:52Z [Term] id: HP:0010654 name: Aplasia of the falx cerebri def: "A developmental defect characterized by aplasia of the Falx cerebri." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent cerebral falx" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023756 is_a: HP:0010653 ! Abnormality of the falx cerebri property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-25T10:35:26Z [Term] id: HP:0010655 name: Epiphyseal stippling alt_id: HP:0002658 alt_id: HP:0010586 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses." [https://orcid.org/0000-0002-0736-9199] comment: Stippling resolves with maturation of the epiphysis but is often replaced by some permanent epiphyseal abnormality. synonym: "Epiphyseal punctate calcifications" EXACT [] synonym: "Speckled calcifications in end part of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stippled epiphyses" EXACT [] synonym: "Stippling of the epiphyses" EXACT [] xref: SNOMEDCT_US:360507004 xref: UMLS:C1859126 is_a: HP:0005930 ! Abnormal epiphysis morphology is_a: HP:0010656 ! Abnormal epiphyseal ossification is_a: HP:0010766 ! Ectopic calcification property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-25T09:41:24Z [Term] id: HP:0010656 name: Abnormal epiphyseal ossification def: "An abnormality of the formation and mineralization of an epiphysis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of the end part of a bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the mineralisation or ossification of the epiphyses" EXACT [] xref: UMLS:C4021246 is_a: HP:0003336 ! Abnormal enchondral ossification property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-25T09:43:04Z [Term] id: HP:0010657 name: Patchy reduction of bone mineral density def: "Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023755 is_a: HP:0002797 ! Osteolysis is_a: HP:0004349 ! Reduced bone mineral density is_a: HP:0010658 ! Patchy changes of bone mineral density property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-25T10:32:54Z [Term] id: HP:0010658 name: Patchy changes of bone mineral density def: "Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023754 is_a: HP:0004348 ! Abnormality of bone mineral density property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-25T10:42:39Z [Term] id: HP:0010659 name: Patchy variation in bone mineral density def: "Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays." [https://orcid.org/0000-0002-0736-9199] synonym: "Patchy increased and decreased bone mineral density" EXACT layperson [] xref: UMLS:C4021245 is_a: HP:0004349 ! Reduced bone mineral density is_a: HP:0010658 ! Patchy changes of bone mineral density property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-25T10:49:23Z [Term] id: HP:0010660 name: Abnormal hand bone ossification alt_id: HP:0005921 def: "An abnormality of the formation and mineralization of any bone of the skeleton of hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of the hand bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal ossification of hand bones" EXACT [] synonym: "Abnormality of the mineralisation and ossification of bones of the hand" EXACT [] xref: UMLS:C4021244 is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0005922 ! Abnormal hand morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-02-25T05:18:19Z [Term] id: HP:0010661 name: Absence of the third cerebral ventricle def: "A developmental defect characterized by the absence of the third ventricle." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023753 is_a: HP:0010951 ! Abnormal third ventricle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:00:47Z [Term] id: HP:0010662 name: Abnormal diencephalon morphology def: "An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain." [https://orcid.org/0000-0002-0736-9199] comment: The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum. synonym: "Abnormality of the diencephalon" EXACT [] xref: UMLS:C4023752 is_a: HP:0100547 ! Abnormal forebrain morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:02:38Z [Term] id: HP:0010663 name: Abnormal thalamus morphology def: "An abnormality of the thalamus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of thalamus" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of thalamus morphology" EXACT [] synonym: "Abnormality of the thalamus" EXACT [] xref: UMLS:C4021243 is_a: HP:0010662 ! Abnormal diencephalon morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:03:50Z [Term] id: HP:0010664 name: Fusion of the left and right thalami def: "A developmental defect characterized by fusion of the left and right halves of the thalamus." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused thalami" EXACT [] synonym: "Fusion of thamali" RELATED [] synonym: "Undivided thalami" EXACT [] xref: UMLS:C1834930 xref: UMLS:C4020769 is_a: HP:0010663 ! Abnormal thalamus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:04:37Z [Term] id: HP:0010665 name: Bilateral coxa valga def: "The presence of bilateral coxa valga." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3810018 is_a: HP:0002673 ! Coxa valga property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:07:03Z [Term] id: HP:0010666 name: Hypoplasia of the anterior nasal spine def: "Underdevelopment of the anterior nasal spine of maxilla." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased length of anterior nasal spine" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased projection of anterior nasal spine" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of anterior nasal spine" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of anterior nasal spine" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic anterior nasal spine" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small anterior nasal spine" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of anterior nasal spine" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023751 xref: UMLS:C4280372 xref: UMLS:C4280373 is_a: HP:0000327 ! Hypoplasia of the maxilla property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:10:11Z [Term] id: HP:0010667 name: Aplasia of the maxilla def: "A congenital defect characterized by absence of the Maxilla." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of the maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of the maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of the upper jaw bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of upper jaw bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023750 xref: UMLS:C4280371 is_a: HP:0000326 ! Abnormal maxilla morphology is_a: HP:0040008 ! Aplasia of facial bones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:11:45Z [Term] id: HP:0010668 name: Abnormal zygomatic bone morphology alt_id: HP:0012369 def: "An abnormality of the zygomatic bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal malar bone morphology" EXACT [] synonym: "Abnormality of the cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the zygomatic bone" EXACT [] synonym: "Anomaly of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the cheekbone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023749 is_a: HP:0000309 ! Abnormal midface morphology is_a: HP:0011821 ! Abnormal facial skeleton morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:13:11Z [Term] id: HP:0010669 name: Hypoplasia of the zygomatic bone def: "Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436] synonym: "Cheekbone underdevelopment" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of zygomatic bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed cheekbone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed zygomatic bone" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of the zygomatic bone" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of cheekbone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic cheekbone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic zygomatic bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophy of the cheekbone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophy of the zygomatic bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small cheekbone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small malar bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small zygomatic bone" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of zygomatic bone" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021242 xref: UMLS:C4072879 xref: UMLS:C4280368 xref: UMLS:C4280369 xref: UMLS:C4280370 is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0010668 ! Abnormal zygomatic bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:14:04Z [Term] id: HP:0010672 name: Abnormality of the third metatarsal bone def: "An abnormality of the third metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the 3rd long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023748 is_a: HP:0001832 ! Abnormal metatarsal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-02-26T08:22:51Z [Term] id: HP:0010674 name: Abnormal curvature of the vertebral column def: "The presence of an abnormal curvature of the vertebral column." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal curve of the backbone" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormal curve of the spine" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormal curving of the spine" EXACT [] synonym: "Abnormality of the curvature of the vertebral column" EXACT [] synonym: "Curvature of spine" EXACT [] synonym: "Curved spine" EXACT [] xref: UMLS:C4023747 is_a: HP:0000925 ! Abnormality of the vertebral column property_value: dc:creator "sandra1" xsd:string creation_date: 2010-02-27T06:28:19Z [Term] id: HP:0010675 name: Abnormal foot bone ossification alt_id: HP:0008370 alt_id: HP:0009133 def: "An abnormality of the formation and mineralization of any bone of the skeleton of foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of foot bones" RELATED [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal ossification involving bones of the feet" RELATED [] synonym: "Abnormality of the mineralisation and ossification of bones of the feet" EXACT [] xref: UMLS:C4020768 xref: UMLS:C4021241 xref: UMLS:C4280367 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0003336 ! Abnormal enchondral ossification property_value: dc:creator "sandra1" xsd:string creation_date: 2010-02-28T05:27:47Z [Term] id: HP:0010676 name: Mechanical ileus xref: SNOMEDCT_US:46420000 xref: UMLS:C0400843 is_a: HP:0002595 ! Ileus property_value: dc:creator "sandra1" xsd:string creation_date: 2010-03-01T08:43:38Z [Term] id: HP:0010677 name: Enuresis nocturna def: "Enuresis occurring during sleeping hours." [https://orcid.org/0009-0006-4530-3154] synonym: "Nocturnal enuresis" EXACT [] xref: SNOMEDCT_US:8009008 xref: UMLS:C0270327 is_a: HP:0000805 ! Enuresis property_value: dc:creator "sandra1" xsd:string creation_date: 2010-03-01T09:11:31Z [Term] id: HP:0010678 name: Enuresis diurna def: "Enuresis occurring during waking hours of the day." [https://orcid.org/0009-0006-4530-3154] xref: UMLS:C4023746 is_a: HP:0000805 ! Enuresis property_value: dc:creator "sandra1" xsd:string creation_date: 2010-03-01T09:11:51Z [Term] id: HP:0010679 name: Elevated tissue non-specific alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL). synonym: "Elevated alkaline phosphatase, liver/bone/kidney" EXACT [] synonym: "Elevated tissue non-specific ALP" EXACT abbreviation [] xref: UMLS:C4021240 is_a: HP:0003155 ! Elevated circulating alkaline phosphatase concentration property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:08:35Z [Term] id: HP:0010680 name: Elevated alkaline phosphatase of renal origin def: "An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated ALP of renal origin" EXACT abbreviation [] xref: UMLS:C4023745 is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase is_a: HP:0012211 ! Abnormal renal physiology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:09:59Z [Term] id: HP:0010681 name: Elevated intestinal alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, intestinal type in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN). synonym: "Elevated intestinal ALP" EXACT abbreviation [] xref: UMLS:C4023744 is_a: HP:0003155 ! Elevated circulating alkaline phosphatase concentration property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:10:34Z [Term] id: HP:0010682 name: Elevated placental alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, placental type in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN). synonym: "Elevated placental ALP" EXACT abbreviation [] xref: UMLS:C4023743 is_a: HP:0003155 ! Elevated circulating alkaline phosphatase concentration property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:11:06Z [Term] id: HP:0010683 name: Low tissue non-specific alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low tissue non-specific ALP" EXACT abbreviation [] xref: UMLS:C4023742 is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:12:08Z [Term] id: HP:0010684 name: Low alkaline phosphatase of bone origin def: "An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low ALP of bone origin" EXACT abbreviation [] xref: UMLS:C4023741 is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010685 name: Low alkaline phosphatase of renal origin def: "An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low ALP of renal origin" EXACT abbreviation [] xref: UMLS:C4023740 is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity is_a: HP:0012211 ! Abnormal renal physiology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010686 name: Low alkaline phosphatase of hepatic origin def: "An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low ALP of hepatic origin" EXACT abbreviation [] xref: UMLS:C4023739 is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010687 name: Low intestinal alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, intestinal type in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low intestinal ALP" EXACT abbreviation [] xref: UMLS:C4023738 is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:13:10Z [Term] id: HP:0010688 name: Low placental alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, placental type in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low placental ALP" EXACT abbreviation [] xref: UMLS:C4023737 is_a: HP:0003282 ! Decreased circulating alkaline phosphatase activity property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T11:13:28Z [Term] id: HP:0010689 name: Mirror image polydactyly def: "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes." [https://orcid.org/0009-0006-4530-3154, PMID:19125433] comment: Transplantation of the ZPA (zone of polarized activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. synonym: "Mirror image duplication of digits" EXACT [] xref: SNOMEDCT_US:715440003 xref: UMLS:C1851100 is_a: HP:0010442 ! Polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T05:03:16Z [Term] id: HP:0010690 name: Mirror image hand polydactyly def: "Mirror image duplication of digits affecting the hands only." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Mirror image duplication of fingers" EXACT layperson [] xref: UMLS:C4021239 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0010689 ! Mirror image polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T05:05:05Z [Term] id: HP:0010691 name: Mirror image foot polydactyly def: "Mirror image duplication of digits affecting the feet." [https://orcid.org/0009-0006-4530-3154] synonym: "Mirror image duplication of toes" EXACT layperson [] xref: UMLS:C4021238 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0010689 ! Mirror image polydactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-05T05:05:05Z [Term] id: HP:0010692 name: obsolete 2-5 finger syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 is_obsolete: true replaced_by: HP:0005650 creation_date: 2010-03-05T06:41:50Z [Term] id: HP:0010693 name: Pulverulent cataract def: "A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally." [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199] comment: The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color. synonym: "Pulverulent cataract" EXACT layperson [] xref: UMLS:C1833118 is_a: HP:0007648 ! Punctate cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-11T02:49:53Z [Term] id: HP:0010694 name: Lamellar pulverulent cataract def: "A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance." [https://orcid.org/0000-0002-0736-9199] comment: Opacities located in the perinuclear (lamellar) zones of the lens. xref: UMLS:C4023735 is_a: HP:0007971 ! Lamellar cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-20T11:43:14Z [Term] id: HP:0010695 name: Sutural cataract def: "A type of congenital cataract in which the opacity follows the anterior or posterior Y suture." [https://orcid.org/0000-0002-0736-9199] comment: During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted. xref: UMLS:C4023734 is_a: HP:0010920 ! Zonular cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-20T12:07:04Z [Term] id: HP:0010696 name: Polar cataract def: "A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2025392 is_a: HP:0000518 ! Cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-20T02:36:22Z [Term] id: HP:0010697 name: Anterior pyramidal cataract def: "A type of anterior polar cataract which projects as a conical opacity into the anterior chamber." [https://orcid.org/0000-0002-0736-9199] synonym: "Pyramidal cataract" RELATED [] xref: UMLS:C1392099 is_a: HP:0001134 ! Anterior polar cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-20T02:38:57Z [Term] id: HP:0010698 name: Nuclear pulverulent cataract def: "A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus." [https://orcid.org/0000-0002-0736-9199, PMID:10634616, PMID:14059288] synonym: "cataracta pulverulenta centralis" EXACT [] synonym: "Central pulverulent cataract" EXACT [] synonym: "Coppock-like cataract" EXACT [] synonym: "Pulverulent nuclear cataract" EXACT [] xref: UMLS:C4021237 is_a: HP:0010693 ! Pulverulent cataract is_a: HP:0010925 ! Nuclear punctate cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-20T02:53:02Z [Term] id: HP:0010699 name: Triangular nuclear cataract def: "A nuclear cataract with a triangular form." [https://orcid.org/0000-0002-0736-9199, PMID:18483562] xref: UMLS:C4023733 is_a: HP:0100018 ! Nuclear cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-20T02:58:26Z [Term] id: HP:0010700 name: obsolete Total cataract is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0010701 name: Abnormal circulating immunoglobulin concentration alt_id: HP:0100032 def: "An abnormal deviation from normal levels of immunoglobulins in blood." [https://orcid.org/0000-0002-0736-9199] comment: 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) synonym: "Abnormal immunoglobulin concentration" EXACT [] synonym: "Abnormal immunoglobulin level" EXACT [] synonym: "Abnormal serum immunoglobulin concentration" EXACT [] synonym: "Abnormal serum immunoglobulin levels" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormal serum level of immunoglobulin" EXACT [] synonym: "Immunoglobulin abnormality" EXACT [] xref: UMLS:C1855755 is_a: HP:0005368 ! Abnormality of humoral immunity is_a: HP:0005372 ! Abnormality of B cell physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-22T08:17:49Z [Term] id: HP:0010702 name: Increased circulating immunoglobulin concentration alt_id: HP:0002852 alt_id: HP:0004314 alt_id: HP:0004435 def: "An increased level of gamma globulin (immunoglobulin) in the blood." [https://orcid.org/0000-0002-0736-9199] comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. synonym: "Elevated immunoglobulin levels" EXACT [] synonym: "Hypergammaglobulinaemia" EXACT [] synonym: "Hypergammaglobulinemia" EXACT [] synonym: "Hyperglobulinemia" EXACT [] synonym: "Increased antibody level in blood" EXACT layperson [] synonym: "Increased circulating antibody concentration" EXACT layperson [] synonym: "Increased circulating antibody level" EXACT layperson [] synonym: "Increased gamma globulin" EXACT [] synonym: "Increased immunoglobulin level" EXACT [] synonym: "Increased serum gamma globulin" EXACT [] synonym: "Raised immunoglobulin levels" EXACT [] xref: SNOMEDCT_US:127388009 xref: SNOMEDCT_US:129646001 xref: UMLS:C0020455 xref: UMLS:C0151669 xref: UMLS:C0541985 xref: UMLS:C1306857 xref: UMLS:C2048011 is_a: HP:0010701 ! Abnormal circulating immunoglobulin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-03-22T08:20:07Z [Term] id: HP:0010704 name: 1-2 finger cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the thumb to the index finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 1st-2nd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Webbed thumb and index finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023732 is_a: HP:0010554 ! Cutaneous finger syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:07:14Z [Term] id: HP:0010705 name: 4-5 finger cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 4th-5th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023731 is_a: HP:0010554 ! Cutaneous finger syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010706 name: 1-3 finger cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the thumb to the middle finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 1st-3rd finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023730 is_a: HP:0010554 ! Cutaneous finger syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010707 name: 1-4 finger cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the thumb to the ring finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 1st-4th finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023729 is_a: HP:0010554 ! Cutaneous finger syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010708 name: 1-5 finger cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand)." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 1-5 fingers" EXACT [] synonym: "Webbed 1st-5th fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023728 is_a: HP:0010554 ! Cutaneous finger syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010709 name: 2-4 finger cutaneous syndactyly alt_id: HP:0005797 alt_id: HP:0006018 def: "A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154] synonym: "Syndactyly of second to fourth fingers" EXACT [] synonym: "Webbed index through ring fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021236 is_a: HP:0010554 ! Cutaneous finger syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010710 name: 3-5 finger syndactyly def: "A soft tissue continuity in the anteroposterior axis between the middle to little fingers that extends distally to at least the level of the proximal interphalangeal joints." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed third, fourth and fifth toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023727 is_a: HP:0010492 ! Osseous finger syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010711 name: 1-2 toe syndactyly def: "Syndactyly with fusion of toes one and two." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 1st-2nd toes" EXACT [] synonym: "Webbed first and second toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023726 is_a: HP:0001770 ! Toe syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010712 name: 1-4 toe syndactyly def: "Syndactyly with fusion of toes one to four." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed first through fourth toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023725 is_a: HP:0001770 ! Toe syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010713 name: 1-5 toe syndactyly alt_id: HP:0005812 def: "Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot)." [https://orcid.org/0009-0006-4530-3154] synonym: "Syndactyly of all toes" EXACT [] synonym: "Webbed 1st-5th toes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021235 is_a: HP:0001770 ! Toe syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010714 name: 2-4 toe syndactyly alt_id: HP:0005642 alt_id: HP:0005708 def: "Syndactyly with fusion of toes two to four." [https://orcid.org/0009-0006-4530-3154] synonym: "Syndactyly of toes 2, 3 and 4" EXACT [] synonym: "Syndactyly toes 2-4" EXACT [] synonym: "Webbed 2nd-4th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021234 is_a: HP:0001770 ! Toe syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010715 name: 2-5 toe syndactyly def: "Syndactyly with fusion of toes two to five." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 2nd-5th toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023724 is_a: HP:0001770 ! Toe syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010716 name: 3-5 toe syndactyly def: "Syndactyly with fusion of toes three to five." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 3rd-5th toes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023723 is_a: HP:0001770 ! Toe syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010717 name: Osseous syndactyly of toes def: "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Osseous syndactyly of the toes" EXACT [] xref: SNOMEDCT_US:32113001 xref: SNOMEDCT_US:38859008 xref: UMLS:C0158738 is_a: HP:0001770 ! Toe syndactyly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-03-26T05:31:50Z [Term] id: HP:0010719 name: Abnormality of hair texture alt_id: HP:0002295 alt_id: HP:0003776 def: "An abnormality of the texture of the hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of hair consistency" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of hair curl pattern" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of hair texture" EXACT layperson [] synonym: "Abnormality of hair volume" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023722 xref: UMLS:C4072880 xref: UMLS:C4072881 xref: UMLS:C4073290 is_a: HP:0001595 ! Abnormal hair morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T09:41:53Z [Term] id: HP:0010720 name: Abnormal hair pattern def: "An abnormality of the distribution of hair growth." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal distribution of hair" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal hair pattern" EXACT layperson [] xref: UMLS:C4023721 is_a: HP:0001595 ! Abnormal hair morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T09:53:15Z [Term] id: HP:0010721 name: Abnormal hair whorl def: "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal hair whorl" EXACT layperson [] synonym: "Abnormal hair whorls" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormal whorl of hair" EXACT layperson [] xref: UMLS:C3280303 is_a: HP:0011361 ! Congenital abnormal hair pattern property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T10:05:04Z [Term] id: HP:0010722 name: Asymmetry of the ears def: "An asymmetriy, i.e., difference in size, shape or position between the left and right ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetric ears" EXACT layperson [] xref: UMLS:C1168239 is_a: HP:0000357 ! Abnormal location of ears property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T10:11:45Z [Term] id: HP:0010723 name: Cystic lesions of the pinnae alt_id: HP:0008557 xref: UMLS:C4023720 is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T10:17:01Z [Term] id: HP:0010724 name: Advanced pneumatization of the mastoid process def: "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C4021828 is_a: HP:0000264 ! Abnormal mastoid morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T10:38:57Z [Term] id: HP:0010726 name: Prominent corneal nerve fibers def: "Abnormal prominence of the corneal nerve fibers." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199] synonym: "Myelinated corneal nerves" EXACT [] synonym: "Peripheral corneal nerve myelination" EXACT [] synonym: "Peripheral myelinating corneal nerve fibers" EXACT [] synonym: "Prominent corneal nerve fibres" EXACT uk_spelling [] synonym: "Visible corneal nerve fibers" EXACT [] synonym: "Visible corneal nerve fibres" EXACT uk_spelling [] xref: UMLS:C4021233 is_a: HP:0011492 ! Abnormal corneal stroma morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T10:52:24Z [Term] id: HP:0010727 name: Spontaneous rupture of the globe def: "Rupture of the eyeball not due to trauma." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C4023719 is_a: HP:0012372 ! Abnormal eye morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T11:05:28Z [Term] id: HP:0010728 name: Aplasia of the retina def: "A developmental defect characterized by absence of the retina." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023718 is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T11:09:59Z [Term] id: HP:0010729 name: Cherry red spot of the macula def: "Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula." [https://orcid.org/0000-0002-0736-9199] synonym: "Macular cherry red spot" EXACT [] xref: UMLS:C2216370 is_a: HP:0000630 ! Abnormal retinal artery morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-20T11:14:11Z [Term] id: HP:0010730 name: Double eyebrow def: "This may present as a partial or complete duplication of the eyebrows." [https://orcid.org/0009-0006-4530-3154] comment: Double eyebrow is commonly a feature of Mowat Wilson syndrome. subset: hposlim_core synonym: "Double eyebrow" EXACT layperson [] synonym: "Duplication of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:253209004 xref: UMLS:C0431449 is_a: HP:0000534 ! Abnormal eyebrow morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T04:16:59Z [Term] id: HP:0010731 name: Extension of eyebrows towards upper eyelid def: "The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid." [https://orcid.org/0009-0006-4530-3154] comment: This is commonly a feature of Jacobson syndrome. synonym: "Extension of eyebrows towards upper eyelid" EXACT layperson [] xref: UMLS:C4023717 is_a: HP:0011229 ! Broad eyebrow property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T04:46:32Z [Term] id: HP:0010732 name: Nodular changes affecting the eyelids def: "Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more." [https://orcid.org/0009-0006-4530-3154] synonym: "Eyelid nodules" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023716 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0200036 ! Skin nodule property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T05:11:04Z [Term] id: HP:0010733 name: Naevus flammeus of the eyelid def: "Naevus flammeus localized in the skin of the eyelid." [https://orcid.org/0009-0006-4530-3154] synonym: "Port-wine stain on eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1854409 is_a: HP:0001052 ! Nevus flammeus property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T05:18:41Z [Term] id: HP:0010734 name: Fibrous dysplasia of the bones def: "Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia)." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:10623005 xref: UMLS:C0016063 is_a: HP:0003330 ! Abnormal bone structure property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T06:27:42Z [Term] id: HP:0010735 name: Polyostotic fibrous dysplasia def: "Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:36517007 xref: UMLS:C0016065 is_a: HP:0010734 ! Fibrous dysplasia of the bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T06:31:50Z [Term] id: HP:0010736 name: Monostotic fibrous dysplasia def: "Fibrous dysplasia of the bones were lesions are localized in only one bone." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:89859004 xref: UMLS:C0016064 is_a: HP:0010734 ! Fibrous dysplasia of the bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T06:31:50Z [Term] id: HP:0010739 name: Osteopoikilosis def: "Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:9147009 xref: UMLS:C0029455 is_a: HP:0011001 ! Increased bone mineral density property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T07:19:11Z [Term] id: HP:0010740 name: Osteopathia striata def: "A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:82663009 xref: UMLS:C0265513 is_a: HP:0031367 ! Metaphyseal striations property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-21T07:30:24Z [Term] id: HP:0010741 name: Pedal edema def: "An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg." [https://orcid.org/0000-0002-0736-9199] synonym: "Dependant edema" RELATED [] synonym: "Dependant oedema" RELATED uk_spelling [] synonym: "Edema of the lower limbs" EXACT [] synonym: "Fluid accumulation in lower limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Leg edema" EXACT [] synonym: "Leg oedema" EXACT uk_spelling [] synonym: "Lower leg swelling" EXACT layperson [] synonym: "Oedema of the lower limbs" EXACT uk_spelling [] synonym: "Pedal oedema" EXACT uk_spelling [] synonym: "Peripheral edema of lower extremity" EXACT [] synonym: "Peripheral oedema of lower extremity" EXACT uk_spelling [] xref: SNOMEDCT_US:102572006 xref: UMLS:C0235886 xref: UMLS:C0239340 is_a: HP:0000969 ! Edema is_a: HP:0002814 ! Abnormality of the lower limb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-22T02:16:54Z [Term] id: HP:0010742 name: Edema of the upper limbs def: "An abnormal accumulation of fluid beneath the skin of the arms." [https://orcid.org/0000-0002-0736-9199] synonym: "Fluid accumulation in upper limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Oedema of the upper limbs" EXACT uk_spelling [] xref: SNOMEDCT_US:102558002 xref: UMLS:C0522035 is_a: HP:0000969 ! Edema is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-22T02:17:15Z [Term] id: HP:0010743 name: Short metatarsal alt_id: HP:0001779 alt_id: HP:0001865 alt_id: HP:0003092 alt_id: HP:0004706 alt_id: HP:0005754 def: "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. subset: hposlim_core synonym: "Hypoplasia of the metatarsal bones" EXACT [] synonym: "Hypoplastic metatarsals" EXACT [] synonym: "Short long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short metatarsal bone" EXACT [] synonym: "Short metatarsal bones" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Short metatarsals" EXACT [] synonym: "Shortened metatarsals" EXACT [] xref: UMLS:C1849020 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones is_a: HP:0003026 ! Short long bone property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010744 name: Absent metatarsal bone def: "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the metatarsal bones" EXACT [] xref: UMLS:C4021232 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010745 name: Aplasia of the phalanges of the toes def: "Absence of a digit or of one or more phalanges of a toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent bones of the toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aphalangia of the toes" EXACT [] xref: UMLS:C4021231 is_a: HP:0009817 ! Aplasia involving bones of the lower limbs is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-22T04:33:06Z [Term] id: HP:0010746 name: Hypoplasia of the phalanges of the toes synonym: "Small toe bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023715 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-22T04:33:06Z [Term] id: HP:0010747 name: Medial flaring of the eyebrow def: "An abnormal distribution of eyebrow hair growth in the medial direction." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Medially flared eyebrows" EXACT [] xref: UMLS:C1844562 is_a: HP:0000534 ! Abnormal eyebrow morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T09:29:58Z [Term] id: HP:0010748 name: Ectopic lacrimal punctum def: "Positioning of a lacrimal punctum other than at the medial margins of the eyelid." [PMID:19125427] comment: The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid. subset: hposlim_core synonym: "Abnormal position of the lacrimal punctum" EXACT [] xref: UMLS:C4021230 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T09:35:56Z [Term] id: HP:0010749 name: Blepharochalasis def: "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads." [PMID:3207663] comment: Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis. subset: hposlim_core synonym: "Saggy upper eyelid skin" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:47704002 xref: UMLS:C0005742 is_a: HP:0100540 ! Palpebral edema property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T09:53:13Z [Term] id: HP:0010750 name: Dermatochalasis def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." [https://orcid.org/0000-0002-0736-9199] synonym: "Baggy eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Droopy eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Extra eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid dermatochalasia" EXACT [] synonym: "Hooding of eyelids" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Redundant eyelid skin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:246815009 xref: UMLS:C0423124 xref: UMLS:C2674149 is_a: HP:0000492 ! Abnormal eyelid morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:07:56Z [Term] id: HP:0010751 name: Dimple chin def: "A persistent midline depression of the skin over the fat pad of the chin." [PMID:19125436] subset: hposlim_core synonym: "Chin butt" EXACT layperson [] synonym: "Chin dent" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Chin dimple" EXACT layperson [] synonym: "Chin dimples" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Chin skin dimple" EXACT layperson [] synonym: "Dimple chin" EXACT layperson [] synonym: "Gelasin of chin" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Indentation of chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849227 is_a: HP:0000306 ! Abnormality of the chin property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:29:03Z [Term] id: HP:0010752 name: Cleft mandible def: "Midline deficiency of the mandible and some or all overlying tissues." [PMID:19125436] subset: hposlim_core synonym: "Cleft lower jaw" EXACT layperson [] synonym: "Mandibular cleft" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:92822004 xref: UMLS:C0685786 is_a: HP:0010753 ! Midline defect of mandible property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:32:09Z [Term] id: HP:0010753 name: Midline defect of mandible synonym: "Midline cleft of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023714 is_a: HP:0000277 ! Abnormal mandible morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:32:46Z [Term] id: HP:0010754 name: Abnormality of the temporomandibular joint def: "An anomaly of the temporomandibular joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the jaw joint" EXACT layperson [] synonym: "Anomaly of the temporomandibular joint" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the jaw joint" EXACT layperson [] synonym: "Deformity of the temporomandibular joint" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Derangement of the temporomandibular joint" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of jaw joint" EXACT layperson [] synonym: "Malformation of the temporomandibular joint" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:248401009 xref: SNOMEDCT_US:75630004 xref: UMLS:C0266941 xref: UMLS:C0424721 xref: UMLS:C1865318 xref: UMLS:C4280366 is_a: HP:0000277 ! Abnormal mandible morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:36:28Z [Term] id: HP:0010755 name: Asymmetry of the maxilla def: "Asymmetry between the left and right sides of the maxilla." [https://orcid.org/0000-0001-5889-4463] subset: hposlim_core synonym: "Asymmetry of right and left side of the maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of the upper jaw" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of upper jaw" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Canted maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Canted upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked upper jaw" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deviation of the maxilla" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Deviation of the upper jaw" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tilted maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tilted upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unequal sides of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:235083001 xref: UMLS:C0399519 is_a: HP:0000326 ! Abnormal maxilla morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:38:44Z [Term] id: HP:0010756 name: Aplasia/Hypoplasia of the premaxilla def: "Absence or underdevelopment of the premaxilla." [https://orcid.org/0000-0002-0736-9199] synonym: "Aplasia/hypoplasia of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia/hypoplasia of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023713 is_a: HP:0010758 ! Abnormality of the premaxilla property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:40:40Z [Term] id: HP:0010757 name: Aplasia of the premaxilla def: "Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of the intermaxillary bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of the premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of premaxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of the primary palate bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023712 is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla is_a: HP:0040008 ! Aplasia of facial bones property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:42:17Z [Term] id: HP:0010758 name: Abnormality of the premaxilla def: "An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0009-0006-4530-3154] synonym: "Abnormality of the intermaxillary bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the intermaxillary segment of the maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the premaxillary bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023711 is_a: HP:0000326 ! Abnormal maxilla morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T10:59:07Z [Term] id: HP:0010759 name: Prominence of the premaxilla def: "Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0009-0006-4530-3154, PMID:19125436] comment: As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated. subset: hposlim_core synonym: "Anterior position of the premaxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anterior position of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Premaxillary bone excess" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominence of the intermaxillary bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominence of the primary palate bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent premaxilla" EXACT [] xref: UMLS:C2749369 is_a: HP:0010758 ! Abnormality of the premaxilla property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T11:01:23Z [Term] id: HP:0010760 name: Absent toe alt_id: HP:0008084 alt_id: HP:0010108 alt_id: HP:0011306 def: "Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues." [https://orcid.org/0000-0002-0736-9199] comment: This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux. subset: hposlim_core synonym: "Absent toe" EXACT layperson [] synonym: "Absent toes" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Aplasia of the toes" RELATED [] synonym: "Aplasia of toe" EXACT [] xref: UMLS:C3553754 is_a: HP:0001991 ! Aplasia/Hypoplasia of toe property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-23T03:58:25Z [Term] id: HP:0010761 name: Broad columella def: "Increased width of the columella." [PMID:19152422] subset: hposlim_core synonym: "Columella, broad" EXACT [] synonym: "Columella, wide" EXACT [] synonym: "Fullness of columella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of columella" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of columella" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1851059 xref: UMLS:C4280365 is_a: HP:0009929 ! Abnormal columella morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-04-24T11:52:54Z [Term] id: HP:0010762 name: Chordoma def: "A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis." [https://orcid.org/0000-0002-0736-9199] comment: The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks. xref: NCIT:C2947 xref: SNOMEDCT_US:50007008 xref: UMLS:C0008487 is_a: HP:0010622 ! Neoplasm of the skeletal system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-25T09:00:39Z [Term] id: HP:0010763 name: Low insertion of columella def: "Insertion of the posterior columella below the nasal base." [PMID:19152422] comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. subset: hposlim_core synonym: "Ala higher than columella" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Columella, low insertion" EXACT [] xref: UMLS:C4021229 xref: UMLS:C4280364 is_a: HP:0009929 ! Abnormal columella morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-04-24T12:12:25Z [Term] id: HP:0010764 name: Short eyelashes def: "Decreased length of the eyelashes (subjective)." [https://orcid.org/0000-0002-0736-9199] comment: Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. synonym: "Decreased length of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short eyelashes" EXACT layperson [] xref: UMLS:C2748682 is_a: HP:0000499 ! Abnormal eyelash morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-04-24T03:31:00Z [Term] id: HP:0010765 name: Palmar hyperkeratosis def: "Abnormal thickening of the skin localized to the palm of the hand." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023710 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0040211 ! Abnormal skin morphology of the palm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-04-24T03:53:19Z [Term] id: HP:0010766 name: Ectopic calcification def: "Deposition of calcium salts in a tissue or location in which calcification does not normally occur." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3806226 is_a: HP:0000924 ! Abnormality of the skeletal system property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-27T09:52:59Z [Term] id: HP:0010767 name: Sacrococcygeal pilonidal abnormality def: "The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023709 is_a: HP:0005107 ! Abnormal sacrum morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T09:45:21Z [Term] id: HP:0010769 name: Pilonidal sinus alt_id: HP:0010768 def: "A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Pilonidal cyst" EXACT [] xref: SNOMEDCT_US:47639008 xref: UMLS:C0031925 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010770 name: Pilonidal fistula xref: SNOMEDCT_US:47639008 xref: UMLS:C0031925 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010771 name: Pilonidal abscess def: "A hair-containing cyst or sinus usually in the coccygeal region." [https://orcid.org/0000-0002-0736-9199] synonym: "Sacrococcygeal fistula" EXACT [] xref: SNOMEDCT_US:85224001 xref: UMLS:C3537055 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality is_a: HP:0031292 ! Cutaneous abscess property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010772 name: Anomalous pulmonary venous return def: "A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111323005 xref: SNOMEDCT_US:39905002 xref: UMLS:C0036400 is_a: HP:0030968 ! Abnormal pulmonary vein morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T10:02:26Z [Term] id: HP:0010773 name: Partial anomalous pulmonary venous return def: "A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung." [https://orcid.org/0000-0002-0736-9199] synonym: "PAPVC" EXACT abbreviation [] synonym: "PAPVD" EXACT abbreviation [] synonym: "PAPVR" EXACT abbreviation [] synonym: "Partial anomalous pulmonary venous connection" EXACT [] synonym: "Partial anomalous pulmonary venous drainage" EXACT [] xref: Fyler:2030 xref: SNOMEDCT_US:68237008 xref: UMLS:C0158634 is_a: HP:0010772 ! Anomalous pulmonary venous return property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T10:03:02Z [Term] id: HP:0010774 name: Cor triatriatum def: "The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Triatrial heart" EXACT [] xref: Fyler:3031 xref: ICD-10:Q24.2 xref: UMLS:C4023708 is_a: HP:0005120 ! Abnormal cardiac atrium morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T10:07:24Z [Term] id: HP:0010775 name: Vascular ring def: "A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails." [https://orcid.org/0000-0002-0736-9199] synonym: "Vascular ring of aorta" EXACT [] xref: Fyler:2760 xref: SNOMEDCT_US:110409004 xref: SNOMEDCT_US:66403007 xref: UMLS:C0221214 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T10:18:47Z [Term] id: HP:0010776 name: Tracheobronchmegaly def: "Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection." [https://orcid.org/0000-0002-0736-9199] comment: Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi. xref: UMLS:C4023707 is_a: HP:0010777 ! Bronchomegaly is_a: HP:0010778 ! Tracheomegaly property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T10:22:55Z [Term] id: HP:0010777 name: Bronchomegaly def: "Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023706 is_a: HP:0025426 ! Abnormal bronchus morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T10:25:22Z [Term] id: HP:0010778 name: Tracheomegaly def: "Marked widening of the trachea." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023705 is_a: HP:0002778 ! Abnormal tracheal morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T10:28:51Z [Term] id: HP:0010779 name: Large pelvis bone def: "The presence of an abnormally large pelvis." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Large pelvis" BROAD layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Large pelvis bone" EXACT layperson [] xref: UMLS:C4019074 xref: UMLS:C4072882 is_a: HP:0040163 ! Abnormal pelvis bone morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T11:03:39Z [Term] id: HP:0010780 name: Hyperacusis def: "Over-sensitivity to certain frequency ranges of sound." [PMID:14645606, PMID:14647932, PMID:31669363] comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Listeners with hearing loss often struggle to detect low-level sounds, but as the sound intensity rises above threshold, loudness initially grows at a faster than normal rate, but the growth rate slows with increasing intensity so that normal loudness is achieved at high intensities. This phenomenon is referred to as loudness recruitment. However, in some hearing-impaired listeners,loudness continues to grow more rapidly than normal at suprathreshold intensities causing moderately intense sounds to be perceived as louder than normal, a debilitating condition known as hyperacusis or loudness intolerance. subset: hposlim_core xref: SNOMEDCT_US:194399009 xref: SNOMEDCT_US:25289003 xref: UMLS:C0034880 is_a: HP:5200060 ! Auditory hypersensitivity property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-04-29T04:42:44Z [Term] id: HP:0010781 name: Skin dimple def: "Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation." [https://orcid.org/0000-0002-0736-9199] synonym: "Skin dimples" EXACT plural_form [] xref: SNOMEDCT_US:301854006 xref: UMLS:C0578531 is_a: HP:0011355 ! Localized skin lesion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-04-30T11:34:41Z [Term] id: HP:0010782 name: Shoulder dimple def: "A subtype of skin dimples occurring in the shoulder region." [https://orcid.org/0000-0002-0736-9199, PMID:22679172] comment: Symmetrical dimples of the skin overlying the acromial process of the scapulae are called bi-acromial dimples. synonym: "Acromial dimple" EXACT [] synonym: "Bi-acromial dimples" EXACT plural_form [] synonym: "Shoulder dimples" EXACT plural_form [] xref: UMLS:C4023704 is_a: HP:0010781 ! Skin dimple property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-04-30T11:36:51Z [Term] id: HP:0010783 name: Erythema def: "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6548-5200] subset: hposlim_core synonym: "Redness of skin or mucous membrane" EXACT layperson [] xref: SNOMEDCT_US:20255002 xref: SNOMEDCT_US:238810007 xref: SNOMEDCT_US:247441003 xref: SNOMEDCT_US:271811009 xref: SNOMEDCT_US:444827008 xref: SNOMEDCT_US:70819003 xref: SNOMEDCT_US:86735004 xref: UMLS:C0016382 xref: UMLS:C0041834 is_a: HP:0011276 ! Vascular skin abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-04-30T11:40:43Z [Term] id: HP:0010784 name: Uterine neoplasm def: "A tumor (abnormal growth of tissue) of the uterus." [https://orcid.org/0000-0002-0736-9199] synonym: "Uterine cancer" BROAD layperson [] synonym: "Uterine neoplasia" RELATED [] synonym: "Uterine tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Uterine tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126908007 xref: UMLS:C0042138 is_a: HP:0031105 ! Abnormal uterus morphology is_a: HP:0033020 ! Female reproductive system neoplasm property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T09:35:15Z [Term] id: HP:0010785 name: Gonadal neoplasm def: "A tumor (abnormal growth of tissue) of a gonad." [https://orcid.org/0000-0002-0736-9199] synonym: "Gonadal neoplasia" EXACT [] xref: NCIT:C3262 xref: UMLS:C4021228 is_a: HP:0010787 ! Genital neoplasm property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T09:44:41Z [Term] id: HP:0010786 name: Urinary tract neoplasm def: "The presence of a neoplasm of the urinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "Urinary tract neoplasia" RELATED [] xref: NCIT:C3262 xref: SNOMEDCT_US:126879004 xref: SNOMEDCT_US:254913005 xref: UMLS:C0042076 is_a: HP:0007379 ! Neoplasm of the genitourinary tract property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T09:45:25Z [Term] id: HP:0010787 name: Genital neoplasm def: "A tumor (abnormal growth of tissue) of the genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Genital neoplasia" RELATED [] synonym: "Genital tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Genital tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: UMLS:C0679347 xref: UMLS:C4020767 is_a: HP:0000078 ! Abnormality of the genital system is_a: HP:0007379 ! Neoplasm of the genitourinary tract property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T09:47:50Z [Term] id: HP:0010788 name: Testicular neoplasm def: "The presence of a neoplasm of the testis." [https://orcid.org/0000-0002-0736-9199] synonym: "Testicular cancer" BROAD layperson [] synonym: "Testicular neoplasia" RELATED [] synonym: "Testicular tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Testicular tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126900000 xref: UMLS:C0039590 is_a: HP:0000035 ! Abnormal testis morphology is_a: HP:0010785 ! Gonadal neoplasm is_a: HP:0100848 ! Neoplasm of the male external genitalia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T09:48:35Z [Term] id: HP:0010789 name: Abnormality of the Leydig cells xref: UMLS:C4023703 is_a: HP:0000035 ! Abnormal testis morphology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T09:50:45Z [Term] id: HP:0010790 name: Hypoplasia of the Leydig cells def: "Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023702 is_a: HP:0010789 ! Abnormality of the Leydig cells property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T09:51:03Z [Term] id: HP:0010791 name: Hyperplasia of the Leydig cells def: "Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:76085008 xref: UMLS:C0023600 is_a: HP:0010789 ! Abnormality of the Leydig cells property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T09:51:26Z [Term] id: HP:0010793 name: Bifid nail def: "A digit with two nails, with at least some soft tissue between them." [PMID:19125433] subset: hposlim_core synonym: "duplicated nail" EXACT [] synonym: "Notched nail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:110992006 xref: UMLS:C0544857 is_a: HP:0002164 ! Nail dysplasia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-05-04T10:34:02Z [Term] id: HP:0010794 name: Impaired visuospatial constructive cognition def: "Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities)." [https://orcid.org/0009-0006-4530-3154, PMID:10521286] comment: The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome. xref: UMLS:C4023701 is_a: HP:0001328 ! Specific learning disability property_value: dc:creator "sandra1" xsd:string creation_date: 2010-05-10T01:43:01Z [Term] id: HP:0010795 name: Cerebellar glioma def: "A glioma affecting the cerebellum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023700 is_a: HP:0009733 ! Glioma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-25T09:08:32Z [Term] id: HP:0010796 name: Brainstem glioma def: "A glioma affecting the brainstem." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:444545003 xref: UMLS:C0677865 is_a: HP:0009733 ! Glioma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-25T09:10:45Z [Term] id: HP:0010797 name: Hemangioblastoma def: "A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter." [https://orcid.org/0000-0002-0736-9199] synonym: "Haemangioblastoma" EXACT [] xref: NCIT:C3801 xref: SNOMEDCT_US:81201000 xref: UMLS:C0206734 is_a: HP:0100835 ! Benign neoplasm of the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-25T09:18:32Z [Term] id: HP:0010798 name: Lip freckle def: "Increased focal pigmentation of the vermilion of the lips." [PMID:19125428] comment: Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin. subset: hposlim_core synonym: "Ephelis of lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Labial lentigo" EXACT [] synonym: "Lip freckle" EXACT layperson [] synonym: "Lip lentigo" EXACT [] xref: SNOMEDCT_US:239136007 xref: UMLS:C0406814 is_a: HP:0000159 ! Abnormal lip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T01:59:19Z [Term] id: HP:0010799 name: Pinealoma def: "A neoplasm of the pineal gland." [https://orcid.org/0000-0002-0736-9199] comment: Pineal tumors are a rare and heterogeneous group of primary central nervous system neoplasms, including pineal parenchymal tumors (pineocytomas, pineal parenchymal tumors of intermediate differentiation, and pineoblastomas), germ cell tumors, and neuroepithelial tumors, such as astrocytomas, ependymomas, and papillary tumor of the pineal region. xref: NCIT:C3328 xref: SNOMEDCT_US:127026004 xref: SNOMEDCT_US:359619007 xref: SNOMEDCT_US:47598005 xref: UMLS:C0031941 is_a: HP:0030063 ! Neuroepithelial neoplasm is_a: HP:0030693 ! Supratentorial neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-25T09:27:58Z [Term] id: HP:0010800 name: Absent cupid's bow def: "Lack of paramedian peaks and median notch of the upper lip vermilion." [PMID:19125428] comment: This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately. subset: hposlim_core synonym: "Absent cupid's bow" EXACT layperson [] synonym: "Agenesis of cupid's bow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of cupid's bow" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of cupid's bow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lack of cupid's bow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing cupid's bow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2053435 is_a: HP:0011339 ! Abnormality of upper lip vermillion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T02:01:31Z [Term] id: HP:0010801 name: Underdeveloped nasolabial fold def: "Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)." [PMID:19125428] subset: hposlim_core synonym: "Flat nasolabial fold" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Nasolabial crease, hypoplastic" EXACT [] synonym: "Nasolabial crease, underdeveloped" EXACT [] synonym: "Nasolabial fold, hypoplastic" EXACT [] synonym: "Shallow nasolabial fold" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021227 is_a: HP:0005289 ! Abnormal nasolabial region morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T02:10:51Z [Term] id: HP:0010802 name: Perioral hyperpigmentation def: "Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips." [PMID:19125428] comment: Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately. synonym: "Darkening of skin around the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased pigmentation around the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023699 is_a: HP:0001000 ! Abnormality of skin pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T02:22:18Z [Term] id: HP:0010803 name: Everted upper lip vermilion def: "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately. subset: hposlim_core synonym: "Drooping upper lip" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eclabium of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Everted prominent upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Everted upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Outward turned upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding upper lip" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3275452 xref: UMLS:C4023698 xref: UMLS:C4280363 is_a: HP:0011339 ! Abnormality of upper lip vermillion is_a: HP:0012472 ! Eclabion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T02:30:13Z [Term] id: HP:0010804 name: Tented upper lip vermilion alt_id: HP:0100895 def: "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [PMID:19125428] comment: This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. subset: hposlim_core synonym: "Inverted V-shaped upper lip" EXACT [] synonym: "Tented mouth" RELATED layperson [] synonym: "Tented upper lip" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1839767 xref: UMLS:C1850072 xref: UMLS:C1853383 is_a: HP:0011339 ! Abnormality of upper lip vermillion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T02:32:35Z [Term] id: HP:0010805 name: Upturned corners of mouth def: "Oral commissures positioned superior to the midline labial fissure." [PMID:19125428] comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. subset: hposlim_core synonym: "Upturned corners of mouth" EXACT layperson [] synonym: "Upturned mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upturned oral commisures" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3553471 is_a: HP:0011338 ! Abnormality of mouth shape property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T03:17:08Z [Term] id: HP:0010806 name: U-Shaped upper lip vermilion alt_id: HP:0000186 def: "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [PMID:19125428] comment: The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms). synonym: "Carp-like mouth" EXACT layperson [] synonym: "Carp-shaped mouth" EXACT layperson [] synonym: "Fish mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large, carp-shaped mouth" EXACT layperson [] synonym: "Wide, carp-shaped mouth" EXACT layperson [] xref: UMLS:C1856202 is_a: HP:0011339 ! Abnormality of upper lip vermillion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-06-26T03:25:01Z [Term] id: HP:0010807 name: Open bite def: "Visible space between the dental arches in occlusion." [PMID:19125428] comment: An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion. subset: hposlim_core synonym: "Absence of overlap of upper and lower teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Open bite" EXACT layperson [] synonym: "Open bite between upper and lower teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:35580009 xref: UMLS:C0266061 is_a: HP:0000692 ! Tooth malposition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-02T09:30:43Z [Term] id: HP:0010808 name: Protruding tongue def: "Tongue extending beyond the alveolar ridges or teeth at rest." [PMID:19125428] comment: Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately. subset: hposlim_core synonym: "Lingual prolapse" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual prominence" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual protrusion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prolapse of tongue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding tongue" EXACT layperson [] synonym: "Tongue protrusion" EXACT [] synonym: "Tongue sticking out of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249872000 xref: SNOMEDCT_US:285503005 xref: UMLS:C0241442 is_a: HP:0030809 ! Abnormal tongue morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-02T09:38:37Z [Term] id: HP:0010809 name: Broad uvula def: "Increased width of the uvula (subjective finding)." [PMID:19125428] comment: This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula. subset: hposlim_core synonym: "Wide uvula" EXACT [] xref: UMLS:C3693299 is_a: HP:0000172 ! Abnormal uvula morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-05T10:22:01Z [Term] id: HP:0010810 name: Long uvula def: "Increased length of the uvula." [PMID:19125428] comment: In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. subset: hposlim_core synonym: "Elongated uvula" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of uvula" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Long palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023697 xref: UMLS:C4280362 is_a: HP:0000172 ! Abnormal uvula morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-05T10:23:52Z [Term] id: HP:0010811 name: Narrow uvula def: "Decreased width of the uvula." [PMID:19125428] subset: hposlim_core synonym: "Narrow palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin uvula" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023696 is_a: HP:0000172 ! Abnormal uvula morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-05T10:25:14Z [Term] id: HP:0010812 name: Short uvula def: "Decreased length of the uvula." [PMID:19125428] comment: Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. synonym: "Blunt uvula" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic uvula" EXACT [] synonym: "Short palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1401781 is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-05T10:26:47Z [Term] id: HP:0010813 name: Abnormal number of hair whorls def: "More than two clockwise hair whorls." [PMID:19125436] comment: Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. subset: hposlim_core synonym: "Abnormal number of hair swirls" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal number of hair whorls" EXACT layperson [] synonym: "Double crown (hair whorls)" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Extra hair swirls" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Extra hair whorl" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumary hair swirls" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumary hair whorl" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023695 is_a: HP:0010721 ! Abnormal hair whorl property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-05T11:12:26Z [Term] id: HP:0010814 name: Abnormal position of hair whorl def: "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull." [PMID:19125436] comment: Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls. subset: hposlim_core synonym: "Abnormal location of hair swirl" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal position of hair whorl" EXACT layperson [] xref: UMLS:C4023694 is_a: HP:0010721 ! Abnormal hair whorl property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-05T11:13:42Z [Term] id: HP:0010815 name: Nevus sebaceous def: "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly." [https://orcid.org/0000-0002-0736-9199] synonym: "Naevus sebaceous" EXACT [] synonym: "Organoid nevus" EXACT [] synonym: "Sebaceous mole" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Sebaceous naevus" EXACT [] synonym: "Sebaceous nevus" EXACT [] xref: SNOMEDCT_US:239112008 xref: SNOMEDCT_US:52298009 xref: SNOMEDCT_US:707136009 xref: UMLS:C3854181 is_a: HP:0010816 ! Epidermal nevus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T12:07:03Z [Term] id: HP:0010816 name: Epidermal nevus def: "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood." [https://orcid.org/0000-0002-0736-9199, PMID:20542174] comment: Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematized epidermal naevus. Several other conditions are also characterized by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. synonym: "Epidermal nevi" RELATED [] xref: SNOMEDCT_US:239107007 xref: SNOMEDCT_US:25201003 xref: UMLS:C0334082 is_a: HP:0003764 ! Nevus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T12:12:32Z [Term] id: HP:0010817 name: Linear nevus sebaceous def: "A type of nevus sebaceous with a linear form, raised borders and yellowish color." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:239112008 xref: SNOMEDCT_US:52298009 xref: SNOMEDCT_US:707136009 xref: UMLS:C3854181 is_a: HP:0010815 ! Nevus sebaceous property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T12:17:17Z [Term] id: HP:0010818 name: Generalized tonic seizure alt_id: HP:0002184 def: "A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, PMID:11580774, PMID:28276060, PMID:28276064] comment: Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. synonym: "Generalised hypertonic seizure" EXACT [] synonym: "Generalised tonic seizure" EXACT uk_spelling [] synonym: "Generalised tonic seizures" EXACT uk_spelling [] synonym: "Generalized hypertonic seizure" EXACT [] synonym: "Generalized tonic seizures" EXACT plural_form [] synonym: "Hypertonic seizures" RELATED [] xref: UMLS:C1836508 is_a: HP:0032677 ! Generalized-onset motor seizure is_a: HP:0032792 ! Tonic seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:03:51Z [Term] id: HP:0010819 name: Atonic seizure alt_id: HP:0002124 def: "Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178, PMID:11580774] comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. synonym: "Astatic seizure" EXACT [] synonym: "Astatic seizures" EXACT plural_form [] synonym: "Atonic seizures" EXACT plural_form [] synonym: "Drop attacks" EXACT [] synonym: "Drop seizures" EXACT plural_form [] synonym: "Hypotonic seizure" EXACT [] synonym: "Hypotonic seizures" RELATED plural_form [] synonym: "Sudden loss of muscle tone" RELATED layperson [] xref: SNOMEDCT_US:189198006 xref: SNOMEDCT_US:42365007 xref: UMLS:C0270846 xref: UMLS:C1836509 is_a: HP:0020219 ! Motor seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:13:06Z [Term] id: HP:0010820 name: Focal emotional seizure with crying def: "Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:993803] comment: Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure. The word dacrystic is derived from the Greek word dakryon (tear). synonym: "Dacrystic seizure" EXACT [] synonym: "Dacrystic seizures" EXACT plural_form [] xref: UMLS:C4023693 is_a: HP:0025613 ! Focal emotional seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:23:32Z [Term] id: HP:0010821 name: Focal emotional seizure with laughing def: "Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276064] comment: This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes. synonym: "Gelastic seizure" EXACT [] synonym: "Gelastic seizures" EXACT plural_form [] xref: SNOMEDCT_US:89525009 xref: UMLS:C0270820 is_a: HP:0025613 ! Focal emotional seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:27:12Z [Term] id: HP:0010822 name: Scintillating scotoma def: "A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:2228002 xref: UMLS:C0235068 is_a: HP:0000575 ! Scotoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:35:29Z [Term] id: HP:0010823 name: Ridged cranial sutures def: "An overlap of the bony plates of the skull in an infant, with or without early closure." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cranial suture ridges" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023692 is_a: HP:0011329 ! Abnormality of cranial sutures property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:46:25Z [Term] id: HP:0010824 name: Abnormal fifth cranial nerve morphology def: "Any structural abnormality of the fifth cranial nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal trigeminal nerve morphology" EXACT [] synonym: "Abnormality of the fifth cranial nerve" EXACT [] synonym: "Abnormality of the nervus trigeminus" EXACT [] xref: UMLS:C4021226 is_a: HP:0001291 ! Abnormal cranial nerve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:51:21Z [Term] id: HP:0010825 name: Abnormality of the eleventh cranial nerve def: "Abnormality of the eleventh cranial nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranial nerve XI" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the accessory nerve" EXACT [] xref: UMLS:C4021225 is_a: HP:0001291 ! Abnormal cranial nerve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:54:53Z [Term] id: HP:0010826 name: Abnormality of the twelfth cranial nerve def: "Abnormality of the twelfth cranial nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranial nerve 12" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of cranial nerve xii" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the hypoglossal nerve" EXACT [] xref: UMLS:C4021224 is_a: HP:3000075 ! Abnormal lingual nerve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T03:58:00Z [Term] id: HP:0010827 name: Abnormal seventh cranial physiology def: "Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the facial nerve" EXACT [] xref: UMLS:C4021223 is_a: HP:0031910 ! Abnormal cranial nerve physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T04:04:55Z [Term] id: HP:0010828 name: Hemifacial spasm def: "Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions." [https://orcid.org/0000-0002-0736-9199, PMID:12145388] comment: Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus. synonym: "Hemifacial spasms" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Spasms on one side of the face" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:13753008 xref: UMLS:C0278152 is_a: HP:0003739 ! Myoclonic spasms property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T04:15:33Z [Term] id: HP:0010829 name: Impaired temperature sensation alt_id: HP:0006901 alt_id: HP:0100772 def: "A reduced ability to discriminate between different temperatures." [https://orcid.org/0000-0002-0736-9199] comment: Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C. synonym: "Abnormality of temperature sensation" EXACT layperson [] synonym: "Impaired temperature sensation" EXACT layperson [] synonym: "Impaired thermal sensitivity" EXACT [] synonym: "Loss of temperature sensation" EXACT layperson [] xref: UMLS:C4021222 is_a: HP:0033747 ! Abnormal exteroceptive sensation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:08:10Z [Term] id: HP:0010830 name: Impaired tactile sensation def: "A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal thigmesthesia" EXACT [] synonym: "Impaired touch sensation" EXACT layperson [] synonym: "Loss of tactile sensation" EXACT [] xref: UMLS:C4021221 is_a: HP:0033747 ! Abnormal exteroceptive sensation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:09:54Z [Term] id: HP:0010831 name: Impaired proprioception alt_id: HP:0010870 def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of proprioception" EXACT [] xref: UMLS:C1856691 is_a: HP:0003474 ! Somatic sensory dysfunction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:12:53Z [Term] id: HP:0010832 name: Abnormality of pain sensation def: "Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023691 is_a: HP:0033747 ! Abnormal exteroceptive sensation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:15:58Z [Term] id: HP:0010833 name: Spontaneous pain sensation def: "Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023690 is_a: HP:0010832 ! Abnormality of pain sensation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:19:19Z [Term] id: HP:0010834 name: Trophic changes related to pain def: "Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails." [https://orcid.org/0000-0002-0736-9199] synonym: "Trophic changes" EXACT [] xref: UMLS:C4021220 is_a: HP:0010832 ! Abnormality of pain sensation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:23:26Z [Term] id: HP:0010835 name: Dissociated sensory loss def: "A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa." [https://orcid.org/0000-0002-0736-9199] comment: Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem. xref: SNOMEDCT_US:87275002 xref: UMLS:C0278136 is_a: HP:0003474 ! Somatic sensory dysfunction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:28:04Z [Term] id: HP:0010836 name: Abnormal circulating copper concentration def: "An abnormal concentration of copper." [https://orcid.org/0000-0002-0736-9199] comment: An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins. synonym: "Abnormal copper levels" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4020766 xref: UMLS:C4023689 is_a: HP:0011030 ! Abnormal blood transition element cation concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:39:09Z [Term] id: HP:0010837 name: Decreased circulating ceruloplasmin concentration def: "Decreased concentration of ceruloplasmin in the blood." [https://orcid.org/0000-0002-0736-9199, PMID:32119309] comment: Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism. synonym: "Decreased serum ceruloplasmin" EXACT layperson [] synonym: "Decreased serum ceruloplasminA" EXACT [] synonym: "Hypoceruloplasminaemia" EXACT uk_spelling [] synonym: "Hypoceruloplasminemia" EXACT [] xref: UMLS:C0240997 is_a: HP:0033144 ! Abnormal circulating ceruloplasmin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:39:36Z [Term] id: HP:0010838 name: High nonceruloplasmin-bound serum copper def: "An increased concentration of non ceruloplasmin bound copper in the blood." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1848459 is_a: HP:0010836 ! Abnormal circulating copper concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:43:39Z [Term] id: HP:0010839 name: Increased urinary copper concentration def: "An increased concentration of copper in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urinary copper concentration" EXACT layperson [] xref: UMLS:C4023688 is_a: HP:0045036 ! Abnormal urinary copper concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T07:44:50Z [Term] id: HP:0010841 name: Multifocal epileptiform discharges def: "An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [https://orcid.org/0000-0002-0736-9199] synonym: "Multifocal EEG abnormality" EXACT [] xref: UMLS:C4021219 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:01:28Z [Term] id: HP:0010843 name: EEG with focal slow activity def: "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG: focal slow activity" EXACT [] synonym: "EEG: localised slow activity" EXACT uk_spelling [] synonym: "EEG: localized slow activity" EXACT [] xref: UMLS:C4021218 is_a: HP:0011203 ! EEG with abnormally slow frequencies property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:10:59Z [Term] id: HP:0010844 name: EEG with multifocal slow activity def: "Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023687 is_a: HP:0011203 ! EEG with abnormally slow frequencies property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:13:54Z [Term] id: HP:0010845 name: EEG with generalized slow activity def: "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] comment: Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. synonym: "EEG with generalised slow activity" EXACT uk_spelling [] synonym: "EEG: generalised slow activity" EXACT uk_spelling [] synonym: "EEG: generalized slow activity" EXACT [] xref: UMLS:C4021217 is_a: HP:0011203 ! EEG with abnormally slow frequencies property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:15:05Z [Term] id: HP:0010846 name: EEG with persistent abnormal rhythmic activity synonym: "EEG: persistent abnormal rhythmic activity" EXACT [] xref: UMLS:C4021216 is_a: HP:0011176 ! EEG with constitutional variants property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:18:01Z [Term] id: HP:0010847 name: EEG with spike-wave complexes (<2.5 Hz) def: "The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. synonym: "Electroencephalogram demonstrated spike-slow wave discharges" EXACT [] xref: UMLS:C4023686 is_a: HP:0010850 ! EEG with spike-wave complexes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:18:25Z [Term] id: HP:0010848 name: EEG with spike-wave complexes (2.5-3.5 Hz) def: "The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023685 is_a: HP:0010850 ! EEG with spike-wave complexes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:21:13Z [Term] id: HP:0010849 name: EEG with spike-wave complexes (>3.5 Hz) alt_id: HP:0007261 def: "The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG with 3-4-Hz spike waves" RELATED [] xref: UMLS:C4020765 xref: UMLS:C4023684 is_a: HP:0010850 ! EEG with spike-wave complexes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:22:40Z [Term] id: HP:0010850 name: EEG with spike-wave complexes def: "Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023683 is_a: HP:0011198 ! EEG with generalized epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-10T08:23:28Z [Term] id: HP:0010851 name: EEG with burst suppression def: "The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes." [https://orcid.org/0000-0002-0736-9199, PMID:22323592] comment: Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). Burst suppression is an electroencephalogram (EEG) pattern in which high voltage activity (burst) and flatline (suppression) periods alternate systematically but quasiperiodically (almost periodic but with variations in inter- and intra-burst duration) is a state of profound brain inactivation. xref: UMLS:C1969156 is_a: HP:0011198 ! EEG with generalized epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:02:41Z [Term] id: HP:0010852 name: EEG with photoparoxysmal response alt_id: HP:0001330 def: "EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns." [https://orcid.org/0000-0002-0736-9199] comment: In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses. synonym: "Photoparoxysmal response on EEG" EXACT [] xref: UMLS:C3552821 is_a: HP:0002353 ! EEG abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:10:17Z [Term] id: HP:0010853 name: EEG with periodic lateralized epileptiform discharges def: "Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds)." [https://orcid.org/0000-0002-0736-9199] comment: The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance. synonym: "EEG: periodic lateralized epileptiform discharges" EXACT [] xref: UMLS:C4021215 is_a: HP:0011186 ! Focal epileptiform discharges with limited propagation to contralateral hemisphere property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:25:02Z [Term] id: HP:0010854 name: EEG with generalized low amplitude activity def: "An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG with generalised low amplitude activity" EXACT uk_spelling [] synonym: "EEG: generalised low amplitude activity" EXACT uk_spelling [] synonym: "EEG: generalized low amplitude activity" EXACT [] xref: UMLS:C4021214 is_a: HP:0011201 ! EEG with changes in voltage property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:34:13Z [Term] id: HP:0010855 name: EEG with localized low amplitude activity def: "An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG with localised low amplitude activity" EXACT uk_spelling [] synonym: "EEG: localised low amplitude activity" EXACT uk_spelling [] synonym: "EEG: localized low amplitude activity" EXACT [] xref: UMLS:C4021213 is_a: HP:0011201 ! EEG with changes in voltage property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:36:03Z [Term] id: HP:0010856 name: EEG with periodic complexes def: "Periodically occurring generalized periodic complexes." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG: periodic complexes" EXACT [] synonym: "Radermecker complexes" EXACT [] xref: UMLS:C4021212 is_a: HP:0010857 ! EEG with periodic abnormalities property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:38:52Z [Term] id: HP:0010857 name: EEG with periodic abnormalities def: "Periodically recurring abnormalities in the EEG." [https://orcid.org/0000-0002-0736-9199] synonym: "EEG: periodic abnormalities" EXACT [] xref: UMLS:C4021211 is_a: HP:0011200 ! EEG with generalized polymorphic epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:39:39Z [Term] id: HP:0010858 name: EEG with hyperventilation-induced epileptiform discharges def: "Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [https://orcid.org/0000-0002-0736-9199] comment: Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges. xref: UMLS:C4023682 is_a: HP:0011182 ! Interictal epileptiform activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-07-11T08:44:38Z [Term] id: HP:0010859 name: Frank breech presentation def: "A kind of breech presentation in which the hips are flexed and the knees are extended." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:18559007 xref: UMLS:C0233286 is_a: HP:0001623 ! Breech presentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T12:33:15Z [Term] id: HP:0010860 name: Complete breech presentation def: "A kind of breech presentation in which the hips are flexed and the knees are flexed." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:49168004 xref: UMLS:C0233283 is_a: HP:0001623 ! Breech presentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T12:34:30Z [Term] id: HP:0010861 name: Incomplete breech presentation def: "A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:38049006 xref: UMLS:C0426146 is_a: HP:0001623 ! Breech presentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T12:34:57Z [Term] id: HP:0010862 name: Delayed fine motor development def: "A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023681 is_a: HP:0001270 ! Motor delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T05:44:08Z [Term] id: HP:0010863 name: Receptive language delay def: "A delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:229736005 xref: UMLS:C0454642 is_a: HP:0000750 ! Delayed speech and language development property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T06:02:52Z [Term] id: HP:0010864 name: Intellectual disability, severe alt_id: HP:0007196 def: "Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [https://orcid.org/0000-0002-0736-9199] comment: Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. synonym: "Early and severe mental retardation" EXACT layperson [] synonym: "Intellectual disability, severe" EXACT layperson [] synonym: "Mental retardation, severe" EXACT layperson [] synonym: "Severe mental retardation" EXACT layperson [] xref: SNOMEDCT_US:40700009 xref: UMLS:C0036857 is_a: HP:0001249 ! Intellectual disability property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T06:29:35Z [Term] id: HP:0010865 name: Oppositional defiant disorder def: "An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents." [] comment: Oppositional defiant disorder is essentially a persistent pattern of tantrums, arguments, and angry or disruptive behavior that exceeds what can be considered normal. synonym: "ODD" EXACT abbreviation [] xref: SNOMEDCT_US:18941000 xref: UMLS:C0029121 is_a: HP:0000718 ! Aggressive behavior property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T07:09:09Z [Term] id: HP:0010866 name: Abdominal wall defect def: "An incomplete closure of the abdominal wall." [https://orcid.org/0000-0002-0736-9199] synonym: "Abdominal wall defect" EXACT layperson [] synonym: "Congenital anterior abdominal wall defect" EXACT [] xref: UMLS:C0238577 is_a: HP:0004298 ! Abnormality of the abdominal wall property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-03T09:55:15Z [Term] id: HP:0010867 name: Dyssynergia def: "A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:20262006 xref: SNOMEDCT_US:39384006 xref: UMLS:C0004134 is_a: HP:0001251 ! Ataxia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-18T01:17:10Z [Term] id: HP:0010868 name: Ocular dyssynergia def: "A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023680 is_a: HP:0010867 ! Dyssynergia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-18T01:20:05Z [Term] id: HP:0010869 name: Asynergia def: "A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:77743009 xref: UMLS:C0234355 is_a: HP:0010867 ! Dyssynergia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-18T01:39:38Z [Term] id: HP:0010871 name: Sensory ataxia def: "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." [https://orcid.org/0000-0002-0736-9199] comment: Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits. synonym: "Afferent ataxia" EXACT [] synonym: "Ataxia, sensory" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Spinal ataxia" EXACT [] xref: SNOMEDCT_US:445458007 xref: SNOMEDCT_US:69131009 xref: UMLS:C0037921 xref: UMLS:C0240991 is_a: HP:0010831 ! Impaired proprioception property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-18T01:57:54Z [Term] id: HP:0010872 name: T-wave inversion def: "An inversion of the T-wave (which is normally positive)." [https://orcid.org/0000-0002-0736-9199] synonym: "EKG: T-wave inversion" EXACT [] xref: SNOMEDCT_US:59931005 xref: UMLS:C0520888 is_a: HP:0005135 ! Abnormal T-wave property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-25T03:29:13Z [Term] id: HP:0010873 name: Cervical spinal cord atrophy def: "Atrophy of the cervical segment of the spinal cord." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0742191 is_a: HP:0006827 ! Atrophy of the spinal cord property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-25T03:41:38Z [Term] id: HP:0010874 name: Tendon xanthomatosis def: "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows)." [https://orcid.org/0000-0002-0736-9199] synonym: "Tendon xanthomas" EXACT [] xref: SNOMEDCT_US:69880002 xref: UMLS:C0221253 is_a: HP:0000991 ! Xanthomatosis is_a: HP:0100261 ! Abnormal tendon morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-08-30T11:01:16Z [Term] id: HP:0010875 name: Chaddock reflex def: "A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:413813004 xref: UMLS:C1531651 is_a: HP:0007256 ! Abnormal pyramidal sign property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-07T12:11:07Z [Term] id: HP:0010876 name: Abnormal circulating protein concentration def: "An abnormal level of a circulating protein in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal circulating protein level" EXACT [] synonym: "Abnormality of circulating protein level" EXACT [] synonym: "Blood protein disease" RELATED layperson [] synonym: "Serum protein abnormality" RELATED [] xref: UMLS:C4020763 xref: UMLS:C4020764 xref: UMLS:C4023679 is_a: HP:0032180 ! Abnormal circulating metabolite concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-07T01:51:12Z [Term] id: HP:0010877 name: Monocular strabismus def: "A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times." [https://orcid.org/0000-0002-0736-9199] synonym: "Unilateral strabismus" EXACT [] xref: UMLS:C4023678 is_a: HP:0000486 ! Strabismus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-08T10:47:57Z [Term] id: HP:0010878 name: Fetal cystic hygroma def: "The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas." [eMedicine:402757, https://orcid.org/0000-0002-0736-9199] comment: Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm. synonym: "Foetal cystic hygroma" EXACT uk_spelling [] xref: UMLS:C0948242 is_a: HP:0000476 ! Cystic hygroma is_a: HP:0025667 ! Fetal neck anomaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-13T08:02:26Z [Term] id: HP:0010879 name: Postnatal cystic hygroma xref: UMLS:C4023677 is_a: HP:0000476 ! Cystic hygroma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-13T08:08:47Z [Term] id: HP:0010880 name: Increased nuchal translucency def: "Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy)." [https://orcid.org/0000-0002-0736-9199, PMID:12751779, PMID:15846173, PMID:28511453] comment: Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency. xref: UMLS:C4023676 is_a: HP:0000969 ! Edema is_a: HP:0025667 ! Fetal neck anomaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-13T08:15:19Z [Term] id: HP:0010881 name: Abnormality of the umbilical cord def: "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta." [https://orcid.org/0000-0002-0736-9199] synonym: "Umbilical cord issue" EXACT layperson [] xref: SNOMEDCT_US:90009001 xref: UMLS:C0266785 is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-13T08:24:04Z [Term] id: HP:0010882 name: Pulmonary valve atresia def: "A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:1001 xref: SNOMEDCT_US:204342004 xref: SNOMEDCT_US:448564004 xref: UMLS:C0242855 is_a: HP:0001641 ! Abnormal pulmonary valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-20T11:08:09Z [Term] id: HP:0010883 name: Aortic valve atresia def: "A congenital disorder of the aortic valve in which the orifice of the valve fails to develop." [https://orcid.org/0000-0002-0736-9199] synonym: "Aortic atresia" EXACT [] xref: SNOMEDCT_US:51442005 xref: UMLS:C0265843 is_a: HP:0001646 ! Abnormal aortic valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-20T11:09:46Z [Term] id: HP:0010884 name: Acromelia def: "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C4023675 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-09-20T11:17:40Z [Term] id: HP:0010885 name: Avascular necrosis def: "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [https://orcid.org/0009-0006-4530-3154] comment: The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. synonym: "Aseptic bone necrosis" EXACT [] synonym: "Aseptic necrosis" EXACT [] synonym: "Bone infarction" EXACT [] synonym: "Death of bone due to decreased blood supply" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Ischaemic bone necrosis" EXACT uk_spelling [] synonym: "Ischemic bone necrosis" EXACT [] synonym: "Osteochondronecrosis" EXACT [] synonym: "Osteonecrosis" EXACT [] xref: SNOMEDCT_US:240196003 xref: SNOMEDCT_US:398199007 xref: SNOMEDCT_US:72756009 xref: UMLS:C0029445 xref: UMLS:C0085660 xref: UMLS:C0520474 xref: UMLS:C0877326 is_a: HP:0011843 ! Abnormal musculoskeletal physiology property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-09-24T10:11:05Z [Term] id: HP:0010886 name: Osteochondritis dissecans def: "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage." [https://orcid.org/0009-0006-4530-3154] comment: Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints. synonym: "Osteochondrosis dissecans" EXACT [] xref: SNOMEDCT_US:82562007 xref: UMLS:C0029421 is_a: HP:0040188 ! Osteochondrosis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-09-24T10:15:07Z [Term] id: HP:0010888 name: Morbus Koehler def: "Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis." [https://orcid.org/0009-0006-4530-3154] xref: UMLS:C4023674 is_a: HP:0100323 ! Juvenile aseptic necrosis is_a: HP:0100339 ! Abnormality of the os naviculare pedis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010889 name: Morbus Kienboeck def: "Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum." [https://orcid.org/0009-0006-4530-3154] comment: Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum. synonym: "Kienboeck's disease" EXACT [] synonym: "Kienböck's disease" EXACT [] synonym: "Lunatomalacia" EXACT [] xref: SNOMEDCT_US:360466009 xref: SNOMEDCT_US:367356000 xref: SNOMEDCT_US:84062004 xref: UMLS:C0022682 is_a: HP:0004248 ! Abnormal lunate bone morphology is_a: HP:0100323 ! Juvenile aseptic necrosis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010890 name: Morbus Osgood-Schlatter def: "Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae." [https://orcid.org/0009-0006-4530-3154] comment: Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where the patellar tendon inserts. synonym: "Osgood Schlatter disease" EXACT [] xref: SNOMEDCT_US:72047008 xref: SNOMEDCT_US:79353000 xref: UMLS:C0029376 is_a: HP:0002992 ! Abnormal tibia morphology is_a: HP:0100323 ! Juvenile aseptic necrosis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010891 name: Morbus Scheuermann def: "A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays)." [https://orcid.org/0009-0006-4530-3154] comment: Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum. synonym: "Calve disease" EXACT [] synonym: "Juvenile osteochondrosis of the spine" EXACT [] synonym: "Scheuermann disease" EXACT [] synonym: "Scheuermann kyphosis" EXACT [] synonym: "Sherman's Disease" EXACT [] xref: SNOMEDCT_US:53406005 xref: UMLS:C0036310 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0100323 ! Juvenile aseptic necrosis property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010892 name: Abnormal circulating branched chain amino acid concentration def: "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023673 is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-11-11T02:53:04Z [Term] id: HP:0010893 name: Abnormal circulating phenylalanine concentration def: "Any deviation from the normal concentration of phenylalanine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of phenylalanine metabolism" EXACT [] xref: UMLS:C4023672 is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-11-11T03:23:30Z [Term] id: HP:0010894 name: Abnormal circulating serine family amino acid concentration def: "Any deviation from the normal concentration of a serine family amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of serine family amino acid metabolism" EXACT [] xref: UMLS:C4023671 is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-11-30T05:21:41Z [Term] id: HP:0010895 name: Abnormal circulating glycine concentration def: "Any deviation from the normal concentration of glycine in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] xref: UMLS:C4023670 is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-11-30T05:27:24Z [Term] id: HP:0010896 name: Hypersarcosinemia def: "An elevated plasma concentration of sarcosine." [HPO_CONTRIBUTOR:gcarletti] comment: Sarcosine is the N-methyl derivative of glycine. synonym: "High plasma sarcosine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:64852002 xref: UMLS:C0268563 is_a: HP:0010898 ! Abnormal circulating sarcosine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-11-30T05:38:24Z [Term] id: HP:0010897 name: Hypersarcosinuria def: "An elevated urinary concentration of sarcosine." [HPO_CONTRIBUTOR:gcarletti] synonym: "High urine sarcosine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023669 is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-11-30T05:43:45Z [Term] id: HP:0010898 name: Abnormal circulating sarcosine concentration def: "An deviation from the normal concentration of sarcosine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: Sarcosine, which is also known as N-methylglycine, is an intermediate and byproduct in glycine synthesis and degradation. xref: UMLS:C4023668 is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-11-30T05:44:10Z [Term] id: HP:0010899 name: Abnormal circulating aspartate family amino acid concentration def: "Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023667 is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-02T04:40:57Z [Term] id: HP:0010900 name: Abnormal circulating threonine concentration def: "Any deviation from the normal concentration of threonine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of threonine metabolism" EXACT [] xref: UMLS:C4023666 is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-02T04:42:19Z [Term] id: HP:0010901 name: Abnormal circulating methionine concentration def: "Any deviation from the normal concentration of methionine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of methionine metabolism" EXACT [] xref: UMLS:C4023665 is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-02T05:15:22Z [Term] id: HP:0010902 name: Abnormal circulating glutamine family amino acid concentration def: "Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023664 is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-03T04:30:22Z [Term] id: HP:0010903 name: Abnormal circulating glutamine concentration def: "Any deviation from the normal concentration of glutamine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: Glutamine is a charge-neutral, polar amino acid. xref: UMLS:C4023663 is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-03T04:31:22Z [Term] id: HP:0010904 name: Abnormal circulating histidine concentration def: "An abnormality of a histidine metabolic process." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of histidine metabolism" EXACT [] xref: UMLS:C4023662 is_a: HP:0033107 ! Abnormal circulating proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T07:13:56Z [Term] id: HP:0010905 name: obsolete Abnormality of histidine metabolism is_obsolete: true replaced_by: HP:0010904 [Term] id: HP:0010906 name: Hyperhistidinemia def: "An increased concentration of histidine in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter. synonym: "High blood histidine level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Histidinemia" RELATED [] xref: SNOMEDCT_US:124628005 xref: SNOMEDCT_US:410058007 xref: UMLS:C0220992 is_a: HP:0010904 ! Abnormal circulating histidine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T07:27:47Z [Term] id: HP:0010907 name: Abnormal circulating proline concentration def: "Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] xref: UMLS:C4023661 is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T07:50:08Z [Term] id: HP:0010908 name: Abnormal circulating lysine concentration def: "Any deviation from the normal concentration of lysine in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] synonym: "Abnormality of lysine metabolism" EXACT [] xref: UMLS:C4023660 is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:05:55Z [Term] id: HP:0010909 name: Abnormal circulating arginine concentration def: "Any deviation from the normal concentration of arginine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: Arginine is a charged, aliphatic amino acid. synonym: "Abnormality of arginine metabolism" EXACT [] xref: UMLS:C4023659 is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:25:05Z [Term] id: HP:0010910 name: Hypervalinemia def: "An increased concentration of valine in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "High blood valine concentration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:47719001 xref: UMLS:C0268573 is_a: HP:0010914 ! Abnormal circulating valine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:44:27Z [Term] id: HP:0010911 name: Hyperleucinemia def: "An increased concentration of leucine in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Normal leucine blood levels are around 120-160 micromole per liter. synonym: "High blood leucine concentration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:24013007 xref: UMLS:C0268576 is_a: HP:0004357 ! Abnormal circulating leucine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:45:56Z [Term] id: HP:0010912 name: Abnormal circulating isoleucine concentration def: "Any deviation from the normal concentration of isoleucine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023658 is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:47:47Z [Term] id: HP:0010913 name: Hyperisoleucinemia def: "An increased concentration of isoleucine in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Normal isoleucine blood levels are around 60-80 micromole per liter. synonym: "High blood isoleucine concentration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023657 is_a: HP:0010912 ! Abnormal circulating isoleucine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:49:42Z [Term] id: HP:0010914 name: Abnormal circulating valine concentration def: "Any deviation from the normal circulation of valine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of valine metabolism" EXACT [] xref: UMLS:C4023656 is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:51:14Z [Term] id: HP:0010915 name: Abnormal circulating pyruvate family amino acid concentration def: "An abnormality of a pyruvate family amino acid metabolic process." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of pyruvate family amino acid metabolism" EXACT [] xref: UMLS:C4023655 is_a: HP:0033108 ! Abnormal circulating proteinogenic amino acid derivative concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:55:53Z [Term] id: HP:0010916 name: Abnormal circulating alanine concentration def: "An abnormality of an alanine metabolic process." [HPO_CONTRIBUTOR:gcarletti] synonym: "Abnormality of alanine metabolism" EXACT [] xref: UMLS:C4023654 is_a: HP:0010915 ! Abnormal circulating pyruvate family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T08:57:53Z [Term] id: HP:0010917 name: Abnormal circulating tyrosine concentration def: "Any deviation from the normal concentration of tyrosine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023653 is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-08T09:13:53Z [Term] id: HP:0010918 name: Abnormal circulating cysteine concentration def: "An abnormality of a cysteine metabolic process." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023652 is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-11T11:45:39Z [Term] id: HP:0010919 name: Abnormal circulating homocysteine concentration def: "An abnormality of a homocysteine metabolic process." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023651 is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-11T11:48:52Z [Term] id: HP:0010920 name: Zonular cataract alt_id: HP:0007713 def: "Zonular cataracts are defined to be cataracts that affect specific regions of the lens." [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199, PMID:18035564] comment: Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders. xref: UMLS:C1861821 is_a: HP:0000518 ! Cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-12T12:00:37Z [Term] id: HP:0010921 name: Coralliform cataract def: "A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form." [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1392104 is_a: HP:0010920 ! Zonular cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-12T12:16:28Z [Term] id: HP:0010922 name: Membranous cataract def: "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens." [https://orcid.org/0000-0002-0736-9199, PMID:17539799] xref: UMLS:C0524524 is_a: HP:0000518 ! Cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-12T12:31:45Z [Term] id: HP:0010923 name: Anterior subcapsular cataract def: "A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:315352000 xref: UMLS:C1112768 is_a: HP:0000523 ! Subcapsular cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-12T12:51:55Z [Term] id: HP:0010924 name: Posterior cortical cataract def: "A cataract that affects the posterior part of the cortex of the lens." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023650 is_a: HP:0100019 ! Cortical cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-12T12:55:36Z [Term] id: HP:0010925 name: Nuclear punctate cataract xref: UMLS:C4023649 is_a: HP:0007648 ! Punctate cataract is_a: HP:0100018 ! Nuclear cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-12T04:26:25Z [Term] id: HP:0010926 name: Aculeiform cataract def: "A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:10521291, PMID:9718335] comment: This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any. See Figure 1 of PMID:10521291. synonym: "Fasciculiform cataract" EXACT [] synonym: "Frosted cataract" EXACT [] synonym: "Needle-shaped cataract" EXACT [] xref: UMLS:C1861832 is_a: HP:0100018 ! Nuclear cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2010-12-19T03:47:35Z [Term] id: HP:0010927 name: Abnormal blood inorganic cation concentration def: "An abnormality of divalent inorganic cation homeostasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of divalent inorganic cation homeostasis" EXACT [] xref: UMLS:C4023648 is_a: HP:0010929 ! Abnormal blood cation concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-06T07:47:18Z [Term] id: HP:0010928 name: obsolete Increased urinary orotic acid concentration is_obsolete: true replaced_by: HP:0003218 [Term] id: HP:0010929 name: Abnormal blood cation concentration def: "An abnormality of cation homeostasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cation homeostasis" EXACT [] xref: UMLS:C4023646 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-06T10:36:04Z [Term] id: HP:0010930 name: Abnormal blood monovalent inorganic cation concentration def: "An abnormality of monovalent inorganic cation homeostasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of monovalent inorganic cation homeostasis" EXACT [] xref: UMLS:C4023645 is_a: HP:0010929 ! Abnormal blood cation concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-06T10:38:38Z [Term] id: HP:0010931 name: Abnormal blood sodium concentration def: "An abnormal concentration of sodium." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood Na+ levels" EXACT abbreviation [] synonym: "Abnormal circulating Na concentration" EXACT abbreviation [] synonym: "Abnormality of sodium homeostasis" EXACT [] xref: UMLS:C4023644 is_a: HP:0010930 ! Abnormal blood monovalent inorganic cation concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-06T10:40:20Z [Term] id: HP:0010932 name: Abnormal circulating nucleobase concentration def: "An abnormality of a nucleobase metabolic process." [https://orcid.org/0000-0002-0736-9199] comment: This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. synonym: "Abnormal nucleoside levels" RELATED [] xref: UMLS:C4020762 xref: UMLS:C4023643 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-06T10:46:17Z [Term] id: HP:0010933 name: Hyperxanthinemia def: "An increased level of xanthine in the blood circulation." [https://orcid.org/0000-0002-0736-9199, PMID:9153281] comment: Xanthine is a purine base that is a product of purine degradation. synonym: "Increased circulating xanthine concentration" EXACT [] xref: UMLS:C4023642 is_a: HP:0004368 ! Increased circulating purine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-10T07:53:26Z [Term] id: HP:0010934 name: Xanthinuria def: "An increased concentration of xanthine in the urine." [HPO_CONTRIBUTOR:gcarletti] comment: Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality. synonym: "Increased urinary xanthine" EXACT [] xref: SNOMEDCT_US:190919008 xref: SNOMEDCT_US:54627004 xref: UMLS:C0220988 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-10T07:55:12Z [Term] id: HP:0010935 name: Abnormality of the upper urinary tract def: "An abnormality of the upper urinary tract." [https://orcid.org/0000-0002-0736-9199] comment: The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. synonym: "Abnormality of the upper urinary tract" EXACT layperson [] xref: UMLS:C4023641 is_a: HP:0000079 ! Abnormality of the urinary system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T11:37:29Z [Term] id: HP:0010936 name: Abnormality of the lower urinary tract def: "An abnormality of the lower urinary tract." [https://orcid.org/0000-0002-0736-9199] comment: The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. xref: UMLS:C4023640 is_a: HP:0000079 ! Abnormality of the urinary system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T11:39:17Z [Term] id: HP:0010937 name: Abnormal nasal skeleton morphology def: "An abnormality of the nasal skeleton." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the nasal skeleton" EXACT layperson [] synonym: "Anomaly of the nasal skeleton" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the bones of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Distortion of the bones of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Distortion of the nasal skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the bones of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023639 xref: UMLS:C4280361 is_a: HP:0005105 ! Abnormal nasal morphology is_a: HP:0011842 ! Abnormal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T02:19:38Z [Term] id: HP:0010938 name: Abnormal external nose morphology def: "An abnormality of the external nose." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the external nose" EXACT layperson [] synonym: "Anomaly of the external nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the external nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the external nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2164724 xref: UMLS:C4023638 xref: UMLS:C4280360 is_a: HP:0005105 ! Abnormal nasal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T02:21:10Z [Term] id: HP:0010939 name: Abnormal nasal bone morphology def: "An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the nasal bone" EXACT layperson [] synonym: "Anomaly of the nasal bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023637 is_a: HP:0010937 ! Abnormal nasal skeleton morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T02:28:45Z [Term] id: HP:0010940 name: Aplasia/Hypoplasia of the nasal bone def: "Absence or underdevelopment of the nasal bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023636 is_a: HP:0010939 ! Abnormal nasal bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T02:31:16Z [Term] id: HP:0010941 name: Aplasia of the nasal bone def: "Absence of the nasal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of the nasal bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of the nasal bone" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of the nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lack of development of the nasal bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing nasal bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:91900007 xref: UMLS:C0339850 xref: UMLS:C0339851 xref: UMLS:C4023635 is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T02:32:39Z [Term] id: HP:0010942 name: Echogenic intracardiac focus def: "A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart." [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:9527573] comment: An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF. xref: UMLS:C4023634 is_a: HP:0010948 ! Abnormal fetal cardiovascular morphology is_a: HP:0011425 ! Fetal ultrasound soft marker property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T02:52:26Z [Term] id: HP:0010943 name: Echogenic fetal bowel def: "Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone." [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:20175047] comment: Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater. synonym: "Echogenic bowel" EXACT [] synonym: "Echogenic foetal bowel" EXACT uk_spelling [] synonym: "Hyperechogenic fetal bowel" EXACT [] synonym: "Hyperechogenic foetal bowel" EXACT uk_spelling [] synonym: "Prenatal ultrasound: hyperechogenic bowel" EXACT [] xref: UMLS:C2936423 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0034207 ! Abnormal fetal gastrointestinal system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T03:04:36Z [Term] id: HP:0010944 name: Abnormal renal pelvis morphology def: "An abnormality of the renal pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the renal pelvis" EXACT [] xref: UMLS:C4023633 is_a: HP:0012210 ! Abnormal renal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T03:33:55Z [Term] id: HP:0010945 name: Fetal pyelectasis def: "Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement." [https://orcid.org/0000-0002-0736-9199, PMID:16100637] comment: The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (PMID:16100637). synonym: "Fetal renal pelvic dilatation" EXACT [] synonym: "Foetal pyelectasis" EXACT uk_spelling [] synonym: "Foetal renal pelvic dilatation" EXACT uk_spelling [] synonym: "Mild fetal hydronephrosis" EXACT [] synonym: "Mild foetal hydronephrosis" EXACT uk_spelling [] xref: SNOMEDCT_US:430035004 xref: UMLS:C2317073 is_a: HP:0010944 ! Abnormal renal pelvis morphology is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0034242 ! Abnormal fetal genitourinary system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T03:36:31Z [Term] id: HP:0010946 name: Dilatation of the renal pelvis def: "The presence of dilatation of the renal pelvis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1868864 is_a: HP:0010944 ! Abnormal renal pelvis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T03:39:20Z [Term] id: HP:0010947 name: Abnormality of ductus venosus blood flow def: "A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus." [https://orcid.org/0000-0002-0736-9199, PMID:16449256, PMID:21048453] comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave. xref: UMLS:C4023632 is_a: HP:0034190 ! Abnormal fetal cardiovascular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T03:50:45Z [Term] id: HP:0010948 name: Abnormal fetal cardiovascular morphology def: "A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the fetal cardiovascular system" EXACT [] synonym: "Abnormality of the fetal circulation system" EXACT [] synonym: "Abnormality of the foetal cardiovascular system" EXACT uk_spelling [] synonym: "Abnormality of the foetal circulation system" EXACT uk_spelling [] xref: UMLS:C4021210 is_a: HP:0030680 ! Abnormal cardiovascular system morphology is_a: HP:0034058 ! Abnormal fetal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T03:53:44Z [Term] id: HP:0010949 name: Abnormality of umbilical vein blood flow def: "A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein." [https://orcid.org/0000-0002-0736-9199] comment: Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus. xref: UMLS:C4023631 is_a: HP:0025657 ! Abnormal umbilical blood flow measurement property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-16T04:15:43Z [Term] id: HP:0010950 name: Abnormal fourth ventricle morphology def: "An abnormality of the fourth ventricle." [https://orcid.org/0000-0002-0736-9199] comment: The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. synonym: "Abnormality of the fourth ventricle" EXACT [] xref: UMLS:C4023630 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-17T12:58:00Z [Term] id: HP:0010951 name: Abnormal third ventricle morphology def: "An abnormality of the third ventricle." [https://orcid.org/0000-0002-0736-9199] comment: The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles. synonym: "Abnormality of the third ventricle" EXACT [] xref: UMLS:C4023629 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-17T01:00:31Z [Term] id: HP:0010952 name: Mild fetal ventriculomegaly def: "A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637] comment: A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue. synonym: "Mild foetal ventriculomegaly" EXACT uk_spelling [] xref: UMLS:C4023628 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0034206 ! Abnormal fetal central nervous system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-17T01:36:57Z [Term] id: HP:0010953 name: Noncommunicating hydrocephalus def: "A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed." [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199] comment: The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy. xref: SNOMEDCT_US:230746009 xref: SNOMEDCT_US:82346000 xref: UMLS:C0549423 is_a: HP:0000238 ! Hydrocephalus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-17T02:22:26Z [Term] id: HP:0010954 name: Hypoplastic right heart def: "Underdevelopment of the right-sided structures of the heart." [https://orcid.org/0000-0002-0736-9199] comment: Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill. synonym: "Hypoplastic right heart syndrome" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Underdeveloped right heart" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:268180007 xref: SNOMEDCT_US:39589002 xref: UMLS:C0265856 xref: UMLS:C0344963 is_a: HP:0001961 ! Hypoplastic heart is_a: HP:0011723 ! Congenital malformation of the right heart property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-17T03:31:37Z [Term] id: HP:0010955 name: Dilatation of the bladder def: "The presence of a dilated urinary bladder." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0549253 is_a: HP:0025487 ! Abnormal bladder morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-18T10:42:26Z [Term] id: HP:0010956 name: Fetal megacystis def: "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age." [https://orcid.org/0000-0002-0736-9199, PMID:20837325] comment: Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction. synonym: "Foetal megacystis" EXACT uk_spelling [] xref: UMLS:C2931117 is_a: HP:0010955 ! Dilatation of the bladder property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-18T10:43:58Z [Term] id: HP:0010957 name: Congenital posterior urethral valve def: "A developmental defect resulting in an obstructing membrane in the posterior male urethra." [eMedicine:1016086, https://orcid.org/0000-0002-0736-9199] comment: Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi). synonym: "Congenital obstructing posterior urethral membranes" EXACT [] synonym: "COPUM" EXACT abbreviation [] synonym: "Posterior urethral valve" EXACT [] synonym: "Posterior urethral valves" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:253900005 xref: UMLS:C0238506 is_a: HP:0010481 ! Urethral valve is_a: HP:0034378 ! Urethrovesical occlusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-18T10:51:22Z [Term] id: HP:0010958 name: Bilateral renal agenesis def: "A bilateral form of agenesis of the kidney." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:41962002 xref: UMLS:C1609433 is_a: HP:0000104 ! Renal agenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-18T11:42:58Z [Term] id: HP:0010959 name: Congenital pulmonary airway malformation alt_id: HP:0006540 alt_id: HP:0006545 def: "Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles." [https://orcid.org/0000-0002-0736-9199, PMID:28638495] comment: The term CPAM has been recommended as being preferable to the term congenital cystic adenomatoid malformation, since the lesions are cystic or adenomatoid in only a limited number of cases. Only three types of CPAMs are distinguished at imaging: large cyst CPAM (type I) and small cyst CPAM (type II), which constitute macrocystic CPAMs; and microcystic or solid type (type III) lesions, which have cysts that are smaller than 5 mm in diameter, with no discernible cystic spaces. synonym: "CCAM" EXACT abbreviation [] synonym: "Congenital cystic adenomatoid malformation" EXACT [] synonym: "Congenital cystic adenomatoid malformation of the lung" EXACT [] synonym: "Congenital cystic disease of the lung" EXACT [] synonym: "Cystic adenomatoid lung disease" EXACT [] xref: SNOMEDCT_US:111318005 xref: UMLS:C0010668 is_a: HP:0005948 ! Multiple pulmonary cysts is_a: HP:0034243 ! Abnormal fetal pulmonary morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-18T11:56:02Z [Term] id: HP:0010960 name: obsolete Bronchopulmonary sequestration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0100632 creation_date: 2011-01-18T12:28:51Z [Term] id: HP:0010961 name: obsolete Intralobar sequestration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0011278 creation_date: 2011-01-18T12:34:14Z [Term] id: HP:0010962 name: obsolete Extralobar sequestration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0006544 creation_date: 2011-01-18T12:36:55Z [Term] id: HP:0010963 name: Absence of stomach bubble on fetal sonography def: "By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation." [https://orcid.org/0000-0002-0736-9199, PMID:20538709] comment: The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios. synonym: "Absence of stomach bubble on foetal sonography" EXACT uk_spelling [] synonym: "Absent stomach bubble" EXACT [] synonym: "Non-visualisation of the fetal stomach" EXACT [] synonym: "Non-visualisation of the foetal stomach" EXACT uk_spelling [] xref: UMLS:C4023625 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0034207 ! Abnormal fetal gastrointestinal system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-18T12:45:41Z [Term] id: HP:0010964 name: Abnormal circulating long-chain fatty-acid concentration def: "Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18. xref: UMLS:C4023624 is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-27T08:05:00Z [Term] id: HP:0010965 name: Abnormal circulating phytanic acid concentration def: "Any deviation from the normal concentration of phytanic acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. synonym: "Abnormal circulating phytanic acid level" EXACT [] xref: UMLS:C4023623 is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-27T08:07:48Z [Term] id: HP:0010966 name: Abnormal circulating fatty-acid anion concentration def: "Any deviation from the normal concentration of a fatty acid anion in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: A fatty acid anion is the conjugate base of a fatty acid. synonym: "Abnormality of fatty acid anion" EXACT [] xref: UMLS:C4021209 is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-27T09:17:48Z [Term] id: HP:0010967 name: Abnormal circulating carnitine concentration def: "Any deviation from the normal concentration of carnitine in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] comment: L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation. synonym: "Carnitine levels abnormal" RELATED [] xref: UMLS:C4020761 xref: UMLS:C4021855 is_a: HP:0010966 ! Abnormal circulating fatty-acid anion concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-27T09:19:42Z [Term] id: HP:0010968 name: Abnormality of liposaccharide metabolism def: "An abnormality of liposaccharide metabolism." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023622 is_a: HP:0032243 ! Abnormal tissue metabolite concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-27T09:22:56Z [Term] id: HP:0010969 name: Abnormality of glycolipid metabolism def: "An abnormality of glycolipid metabolism." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023621 is_a: HP:0032243 ! Abnormal tissue metabolite concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-01-27T09:25:31Z [Term] id: HP:0010970 name: Blood group antigen abnormality def: "An abnormality of an erythrocyte cell surface molecule." [https://orcid.org/0000-0002-0736-9199] comment: During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them. xref: UMLS:C4023620 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T12:37:33Z [Term] id: HP:0010971 name: Absence of Lutheran antigen on erythrocytes def: "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023619 is_a: HP:0010970 ! Blood group antigen abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T12:40:21Z [Term] id: HP:0010972 name: Anemia of inadequate production alt_id: HP:0005501 alt_id: HP:0005504 alt_id: HP:0005553 def: "A kind of anemia characterized by inadequate production of erythrocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Anaemia of inadequate production" EXACT uk_spelling [] synonym: "Anemia, dyserythropoietic" EXACT [] synonym: "Defective erythropoiesis" EXACT [] synonym: "Dyserythropoietic anaemia" EXACT uk_spelling [] synonym: "Dyserythropoietic anemia" EXACT [] synonym: "Ineffective erythropoiesis" EXACT [] xref: SNOMEDCT_US:70730006 xref: UMLS:C0392708 xref: UMLS:C0678199 is_a: HP:0001903 ! Anemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T02:24:54Z [Term] id: HP:0010974 name: Abnormal myeloid leukocyte morphology def: "An abnormality of myeloid leukocytes." [https://orcid.org/0000-0002-0736-9199] comment: A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. synonym: "Abnormality of myeloid leukocytes" EXACT [] xref: UMLS:C4023618 is_a: HP:0001881 ! Abnormal leukocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T09:24:46Z [Term] id: HP:0010975 name: Abnormal B cell count def: "Abnormal increase or decrease of total B cells or any deviation of the propoortion of a B cell subtype. B cells are commonly characterized as CD19+ or CD20+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo." [https://orcid.org/0000-0002-0736-9199, MP:0002458] synonym: "Abnormal number of B cells" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormal numbers of B cells" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of B cell count" EXACT [] synonym: "Abnormality of B cell numbers" EXACT [] xref: UMLS:C4021208 is_a: HP:0002846 ! Abnormal B cell morphology is_a: HP:0040088 ! Abnormal lymphocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T09:38:18Z [Term] id: HP:0010976 name: Decreased total B cell count alt_id: HP:0002956 def: "The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group." [https://orcid.org/0000-0002-0736-9199, PMID:32569607] comment: Plasma B cells differentiate from B cells and secrete large amounts of antibodies. synonym: "B cell deficiency" EXACT [] synonym: "B cell lymphopenia" EXACT [] synonym: "B lymphocytopenia" EXACT [] synonym: "Decreased B cell count" EXACT [] synonym: "Low B cell count" EXACT layperson [] synonym: "Reduction in B cell number" EXACT [] xref: UMLS:C1855067 is_a: HP:0025806 ! Abnormal total B cell count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T09:44:11Z [Term] id: HP:0010977 name: Abnormal phagocytosis def: "An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation." [https://orcid.org/0000-0002-0736-9199, PMID:28691037] xref: UMLS:C4023617 is_a: HP:0010978 ! Abnormality of immune system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-06T10:31:46Z [Term] id: HP:0010978 name: Abnormality of immune system physiology def: "A functional abnormality of the immune system." [https://orcid.org/0000-0002-0736-9199, MP:0001790] xref: UMLS:C4023616 is_a: HP:0002715 ! Abnormality of the immune system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-07T04:28:55Z [Term] id: HP:0010979 name: Abnormality of lipoprotein cholesterol concentration def: "An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL. synonym: "Abnormality of the level of lipoprotein cholesterol" EXACT [] xref: UMLS:C4023615 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-07T09:47:29Z [Term] id: HP:0010980 name: Hyperlipoproteinemia def: "An abnormal increase in the level of lipoprotein cholesterol in the blood." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:3744001 xref: UMLS:C0020476 is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-07T10:56:30Z [Term] id: HP:0010981 name: Hypolipoproteinemia def: "An abnormal decrease in the level of lipoprotein cholesterol in the blood." [] synonym: "Lack of fat in blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:267436001 xref: SNOMEDCT_US:363140000 xref: UMLS:C0020623 is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-07T11:01:50Z [Term] id: HP:0010982 name: Polygenic inheritance def: "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases." [https://orcid.org/0000-0002-0736-9199, ISBN:978-0192628961] synonym: "Common, complex disease" RELATED [] synonym: "Complex disease" RELATED [] synonym: "Multifactorial inheritance" RELATED [] xref: UMLS:C1148552 is_a: HP:0001426 ! Non-Mendelian inheritance property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-08T10:12:39Z [Term] id: HP:0010983 name: Oligogenic inheritance def: "A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform." [https://orcid.org/0000-0002-0736-9199, ISBN:978-0192628961] xref: UMLS:C1136026 is_a: HP:0001426 ! Non-Mendelian inheritance property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-08T10:13:16Z [Term] id: HP:0010984 name: Digenic inheritance def: "A type of multifactorial inheritance governed by the simultaneous action of two gene loci." [https://orcid.org/0000-0002-0736-9199, ISBN:978-0192628961] xref: UMLS:C4023614 is_a: HP:0001426 ! Non-Mendelian inheritance property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-08T10:13:54Z [Term] id: HP:0010985 name: obsolete Gonosomal inheritance property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0000005 creation_date: 2011-02-08T10:16:28Z [Term] id: HP:0010987 name: Abnormal cellular immune system morphology def: "An abnormality of the morphology or counts of the cells that make up the immune system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023612 is_a: HP:0032251 ! Abnormal immune system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-08T12:49:47Z [Term] id: HP:0010988 name: Abnormality of the extrinsic pathway def: "An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade." [https://orcid.org/0000-0002-0736-9199] comment: The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. xref: UMLS:C4023611 is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-08T01:59:22Z [Term] id: HP:0010989 name: Abnormality of the intrinsic pathway def: "An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade." [https://orcid.org/0000-0002-0736-9199] comment: The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. xref: UMLS:C4023610 is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-08T04:26:55Z [Term] id: HP:0010990 name: Abnormality of the common coagulation pathway def: "An abnormality of blood coagulation, common pathway." [https://orcid.org/0000-0002-0736-9199] comment: The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. xref: UMLS:C4023609 is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-08T04:31:53Z [Term] id: HP:0010991 name: Abnormal morphology of the abdominal musculature def: "An abnormality of the abdominal musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the abdominal musculature" EXACT [] xref: UMLS:C4023608 is_a: HP:0004298 ! Abnormality of the abdominal wall is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-09T08:05:11Z [Term] id: HP:0010992 name: Stress urinary incontinence def: "Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing." [https://orcid.org/0000-0002-0736-9199, PMID:12559262] xref: SNOMEDCT_US:22220005 xref: UMLS:C0042025 is_a: HP:0000020 ! Urinary incontinence property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-09T12:13:46Z [Term] id: HP:0010993 name: Abnormal cerebral subcortex morphology def: "An abnormality of the cerebral subcortex." [https://orcid.org/0000-0002-0736-9199] comment: The cerebral subcortex contains the basal ganglia and the cerebral white matter. synonym: "Abnormality of the cerebral medulla" EXACT [] synonym: "Abnormality of the cerebral subcortex" EXACT [] xref: UMLS:C4021207 is_a: HP:0002060 ! Abnormal cerebral morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-09T10:32:54Z [Term] id: HP:0010994 name: Abnormal corpus striatum morphology def: "Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens." [https://orcid.org/0000-0002-0736-9199, PMID:21469956] comment: The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei. synonym: "Abnormality of the neostriatum" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of the striate nucleus" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of the striatum" EXACT [] xref: UMLS:C4023607 is_a: HP:0002134 ! Abnormal basal ganglia morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-10T08:31:42Z [Term] id: HP:0010995 name: Abnormal circulating dicarboxylic acid concentration def: "Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: A dicarboxylic acid is an oxoacid containing two carboxy groups. xref: UMLS:C4023606 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-10T02:01:02Z [Term] id: HP:0010996 name: Abnormal circulating monocarboxylic acid concentration def: "Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation." [HPO_CONTRIBUTOR:gcarletti] xref: UMLS:C4023605 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-10T02:20:42Z [Term] id: HP:0010997 name: Chromosomal breakage induced by ionizing radiation def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation." [https://orcid.org/0009-0006-4530-3154, PMID:16814619] comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome. synonym: "Chromosomal breakage induced by ionising radiation" EXACT uk_spelling [] synonym: "Increased cellular radiosensitivity" EXACT [] synonym: "Radiation-induced chromosome instability" EXACT [] xref: UMLS:C4021206 is_a: HP:0040012 ! Chromosome breakage property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-10T06:10:33Z [Term] id: HP:0010998 name: Increased susceptibility to spontaneous sister chromatid exchange def: "An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells." [https://orcid.org/0009-0006-4530-3154] comment: Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome. xref: UMLS:C4023604 is_a: HP:0003220 ! Abnormality of chromosome stability property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-10T06:14:16Z [Term] id: HP:0010999 name: Aplasia of the optic tract synonym: "Absent optic tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023603 is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-02-13T11:28:03Z [Term] id: HP:0011000 name: Aplasia/Hypoplasia of the optic tract synonym: "Absent/small optic tract" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Absent/underdeveloped optic tract" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023602 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-02-13T11:28:43Z [Term] id: HP:0011001 name: Increased bone mineral density alt_id: HP:0002796 alt_id: HP:0004350 alt_id: HP:0005711 alt_id: HP:0005741 alt_id: HP:0010738 def: "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [https://orcid.org/0000-0002-0736-9199] comment: This term may be merged with Increased bone density in the future or made obsolete. synonym: "Increased bone density" EXACT layperson [] synonym: "Increased bone mineral density" EXACT layperson [] synonym: "Osteosclerosis" EXACT [] synonym: "Osteosclerosis of bones" EXACT [] xref: SNOMEDCT_US:49347007 xref: UMLS:C0029464 is_a: HP:0004348 ! Abnormality of bone mineral density property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-02-13T11:57:32Z [Term] id: HP:0011002 name: Osteopetrosis def: "Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Albers-Schoenberg disease" RELATED [] synonym: "Albers-Schonberg disease" RELATED [] synonym: "Albers-Schönberg disease" RELATED [] synonym: "Harder, denser, fracture-prone bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Marble bone disease" RELATED [] xref: SNOMEDCT_US:1926006 xref: SNOMEDCT_US:367489004 xref: UMLS:C0029454 is_a: HP:0011001 ! Increased bone mineral density property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-02-13T11:58:36Z [Term] id: HP:0011003 name: High myopia alt_id: HP:0000569 def: "A severe form of myopia with greater than -6.00 diopters." [HPO_CONTRIBUTOR:DDD_ncarter] subset: hposlim_core synonym: "Severe myopia" EXACT [] synonym: "Severe myopia (> -6.00 diopters)" EXACT [] synonym: "Severe near sightedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Severely close sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Severely near sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:34187009 xref: UMLS:C0271183 is_a: HP:0000545 ! Myopia property_value: terms:creator https://orcid.org/0009-0006-4530-3154 creation_date: 2011-02-13T12:56:48Z [Term] id: HP:0011004 name: Abnormal systemic arterial morphology alt_id: HP:0002620 alt_id: HP:0005114 def: "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal systemic artery morphology" EXACT [] synonym: "Abnormality of the systemic arterial tree" EXACT [] synonym: "Arterial abnormalities" RELATED [] synonym: "Systemic artery abnormality" EXACT [] xref: Fyler:2600 xref: SNOMEDCT_US:234119001 xref: UMLS:C0151489 xref: UMLS:C4021205 is_a: HP:0033353 ! Abnormal blood vessel morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-16T08:46:49Z [Term] id: HP:0011005 name: Mixed cirrhosis def: "A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes." [https://orcid.org/0000-0002-0736-9199] comment: In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size. xref: UMLS:C1392669 is_a: HP:0001394 ! Cirrhosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-17T09:01:14Z [Term] id: HP:0011006 name: Abnormal morphology of the musculature of the neck def: "An abnormality of the neck musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cervical musculature" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the musculature of the neck" EXACT layperson [] synonym: "Neck muscle issue" EXACT layperson [] xref: UMLS:C4023601 is_a: HP:0011805 ! Abnormal skeletal muscle morphology is_a: HP:0025668 ! Abnormal neck morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-19T11:15:01Z [Term] id: HP:0011008 name: Temporal pattern def: "The speed at which disease manifestations appear and develop." [https://orcid.org/0000-0002-0736-9199] synonym: "Speed of onset" EXACT [] xref: UMLS:C4021204 is_a: HP:0031797 ! Clinical course property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-20T10:22:32Z [Term] id: HP:0011009 name: Acute def: "Sudden appearance of disease manifestations over a short period of time." [https://orcid.org/0000-0002-0736-9199] comment: The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days. synonym: "Acute onset" EXACT [] xref: SNOMEDCT_US:272118002 xref: UMLS:C0205178 is_a: HP:0011008 ! Temporal pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-20T10:23:18Z [Term] id: HP:0011010 name: Chronic def: "Slow, creeping onset, slow progress and long continuance of disease manifestations." [https://orcid.org/0000-0002-0736-9199] comment: According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more. synonym: "Chronic" EXACT layperson [] xref: SNOMEDCT_US:90734009 xref: UMLS:C0205191 is_a: HP:0011008 ! Temporal pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-20T10:25:55Z [Term] id: HP:0011011 name: Subacute def: "Somewhat rapid onset and change of disease manifestations." [https://orcid.org/0000-0002-0736-9199] comment: Subacute is between acute and chronic. xref: SNOMEDCT_US:19939008 xref: UMLS:C0205365 is_a: HP:0011008 ! Temporal pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-20T10:27:54Z [Term] id: HP:0011012 name: Abnormal circulating polysaccharide concentration def: "A deviation from the normal concentration of a polysaccharide in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023600 is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-21T09:46:11Z [Term] id: HP:0011013 name: Abnormal circulating carbohydrate concentration alt_id: HP:0004366 def: "A deviation from the normal concentration of a carbohydrate in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. xref: UMLS:C4023599 is_a: HP:0430071 ! Abnormal circulating organic compound concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-21T09:47:27Z [Term] id: HP:0011014 name: Abnormal glucose homeostasis def: "Abnormality of glucose homeostasis." [https://orcid.org/0000-0002-0736-9199] comment: An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. xref: UMLS:C4023598 is_a: HP:0012337 ! Abnormal homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-21T10:37:21Z [Term] id: HP:0011015 name: Abnormal blood glucose concentration def: "An abnormality of the concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of blood glucose concentration" EXACT [] xref: UMLS:C4023597 is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-21T10:41:13Z [Term] id: HP:0011016 name: obsolete Abnormality of urine glucose concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0003076 creation_date: 2011-02-21T11:09:32Z [Term] id: HP:0011017 name: Abnormal cellular physiology alt_id: HP:0025462 def: "An abnormality in a cellular process." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cell physiology" EXACT [] xref: UMLS:C4023595 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0025354 ! Abnormal cellular phenotype property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-22T07:05:50Z [Term] id: HP:0011018 name: Abnormality of the cell cycle def: "An abnormality of the cell cycle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cell cycle" EXACT layperson [] xref: UMLS:C4023594 is_a: HP:0011017 ! Abnormal cellular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-22T07:09:31Z [Term] id: HP:0011019 name: Abnormality of chromosome condensation def: "An abnormality of chromosome condensation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023593 is_a: HP:0011017 ! Abnormal cellular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-22T07:19:30Z [Term] id: HP:0011020 name: Abnormality of mucopolysaccharide metabolism def: "An abnormality of the metabolism of mucopolysaccharide." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023592 is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-23T07:58:02Z [Term] id: HP:0011021 name: Abnormal circulating enzyme concentration def: "The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range." [] synonym: "Abnormality of circulating enzyme level" EXACT [] xref: UMLS:C4023591 is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-28T08:46:34Z [Term] id: HP:0011022 name: Abnormal circulating unsaturated fatty acid concentration def: "A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023590 is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-28T09:04:58Z [Term] id: HP:0011023 name: Abnormal circulating prostaglandin circulation def: "Any deviation from the normal concentration of a prostaglandin in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023589 is_a: HP:0030361 ! Abnormal circulating eicosanoid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-02-28T09:19:20Z [Term] id: HP:0011024 name: Abnormality of the gastrointestinal tract def: "An abnormality of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the gastrointestinal tract" EXACT layperson [] synonym: "Abnormality of the GI tract" EXACT abbreviation [] synonym: "Digestive system disease" RELATED layperson [] synonym: "Gastrointestinal disease" RELATED layperson [] xref: SNOMEDCT_US:119292006 xref: SNOMEDCT_US:25374005 xref: SNOMEDCT_US:53619000 xref: UMLS:C0012242 xref: UMLS:C0017178 xref: UMLS:C4023588 is_a: HP:0025031 ! Abnormality of the digestive system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-01T07:52:06Z [Term] id: HP:0011025 name: Abnormal cardiovascular system physiology def: "Abnormal functionality of the cardiovascular system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cardiovascular system physiology" EXACT [] xref: UMLS:C4023587 is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-03T10:23:19Z [Term] id: HP:0011026 name: Aplasia/Hypoplasia of the vagina def: "Aplasia or developmental hypoplasia of the vagina." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023586 is_a: HP:0000142 ! Abnormal vagina morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-02T06:17:46Z [Term] id: HP:0011027 name: Abnormal fallopian tube morphology def: "An abnormality of the fallopian tube." [https://orcid.org/0000-0002-0736-9199] comment: The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus. synonym: "Abnormality of the fallopian tube" EXACT [] xref: UMLS:C0281842 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-02T06:36:01Z [Term] id: HP:0011028 name: Abnormality of blood circulation def: "An abnormality of blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood circulation disorder" RELATED [] xref: UMLS:C4020760 xref: UMLS:C4023585 is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-03T10:25:21Z [Term] id: HP:0011029 name: Internal hemorrhage def: "The presence of hemorrhage within the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Internal bleeding" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Internal haemorrhage" EXACT uk_spelling [] xref: UMLS:C1390214 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-03T10:26:26Z [Term] id: HP:0011030 name: Abnormal blood transition element cation concentration def: "An abnormality of the homeostasis (concentration) of transition element cation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of transition element cation homeostasis" EXACT [] xref: UMLS:C4023584 is_a: HP:0010929 ! Abnormal blood cation concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-04T07:59:31Z [Term] id: HP:0011031 name: Abnormality of iron homeostasis def: "An abnormality of the homeostasis (concentration) of iron cation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023583 is_a: HP:0011030 ! Abnormal blood transition element cation concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-04T08:01:07Z [Term] id: HP:0011032 name: Abnormality of fluid regulation def: "An abnormality of the regulation of body fluids." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of fluid regulation" EXACT layperson [] synonym: "Fluid imbalance" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:1860003 xref: SNOMEDCT_US:190902006 xref: UMLS:C2364164 is_a: HP:0012337 ! Abnormal homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-05T09:09:27Z [Term] id: HP:0011033 name: Impairment of fructose metabolism def: "An impairment of a fructose metabolic process." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023581 is_a: HP:0032245 ! Abnormal metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-05T10:06:29Z [Term] id: HP:0011034 name: Amyloidosis def: "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body." [https://orcid.org/0000-0002-0736-9199, PMID:21039326] comment: The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarization microscopy. synonym: "Amyloid disease" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:17602002 xref: UMLS:C0002726 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-06T10:56:39Z [Term] id: HP:0011035 name: Abnormal renal cortex morphology def: "An abnormality of the cortex of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of renal cortex morphology" EXACT [] xref: UMLS:C4023580 is_a: HP:0012210 ! Abnormal renal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-06T11:31:39Z [Term] id: HP:0011036 name: Abnormality of renal excretion def: "An altered ability of the kidneys to void urine and/or specific substances." [https://orcid.org/0000-0002-0736-9199] xref: MP:0005555 xref: UMLS:C4023579 is_a: HP:0012211 ! Abnormal renal physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-06T12:28:55Z [Term] id: HP:0011037 name: Decreased urine output def: "A decreased rate of urine production." [https://orcid.org/0000-0002-0736-9199] comment: A reduction in the overall amount of urine output. xref: UMLS:C3887784 is_a: HP:0012590 ! Abnormal urine output property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-06T12:33:12Z [Term] id: HP:0011038 name: Abnormal renal tubular resorption def: "An abnormality of renal absorption." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal renal resorption" EXACT [] synonym: "Abnormality of renal resorption" EXACT [] xref: UMLS:C4023578 is_a: HP:0000124 ! Renal tubular dysfunction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-06T12:38:04Z [Term] id: HP:0011039 name: Abnormal helix morphology alt_id: HP:0000380 def: "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal helices" EXACT [] synonym: "Abnormality of the helix" EXACT [] synonym: "Helix abnormal" EXACT [] xref: UMLS:C1856660 is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-06T04:41:34Z [Term] id: HP:0011040 name: Abnormal intrahepatic bile duct morphology def: "An abnormality of the intrahepatic bile duct." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the intrahepatic bile duct" EXACT [] xref: UMLS:C4023577 is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-07T07:54:11Z [Term] id: HP:0011041 name: Aplasia/Hypoplasia of the cervical spine def: "Aplasia or developmental hypoplasia of the cervical vertebral column." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small cervical spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped cervical spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023576 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column is_a: HP:0046508 ! Abnormal cervical spine morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-09T08:29:34Z [Term] id: HP:0011042 name: Abnormal circulating potassium concentration def: "An abnormal concentration of potassium." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood K concentration" EXACT abbreviation [] synonym: "Abnormal blood potassium concentration" EXACT [] synonym: "Abnormality of potassium homeostasis" EXACT [] xref: UMLS:C4023575 is_a: HP:0010930 ! Abnormal blood monovalent inorganic cation concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-09T11:00:32Z [Term] id: HP:0011043 name: Abnormal circulating adrenocorticotropin concentration def: "An abnormal concentration of corticotropin in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. synonym: "Abnormality of circulating ACTH level" RELATED abbreviation [] synonym: "Abnormality of circulating adrenocorticotropic hormone level" RELATED [] synonym: "Abnormality of circulating adrenocorticotropin level" RELATED [] synonym: "Abnormality of circulating corticotropin level" EXACT [] xref: UMLS:C4023574 is_a: HP:0003117 ! Abnormal circulating hormone concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T07:46:59Z [Term] id: HP:0011044 name: Abnormal number of permanent teeth def: "The presence of an altered number of of permanent teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormal complement of permanent teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal number of adult teeth" EXACT layperson [] synonym: "Abnormal number of permanent teeth" EXACT layperson [] synonym: "Abnormal number of secondary dentition" EXACT [] synonym: "Abnormal permanent tooth count" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023573 is_a: HP:0006483 ! Abnormal number of teeth property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T10:43:37Z [Term] id: HP:0011045 name: Agenesis of permanent maxillary central incisor def: "Agenesis of upper secondary incisor." [https://orcid.org/0000-0002-9338-3017] comment: This feature is to be distinguished from single central upper incisor, which is median. synonym: "Absence of permanent maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of permanent upper central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of permanent upper front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of adult maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of permanent maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing adult upper central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent upper central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent upper front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023572 xref: UMLS:C4280358 xref: UMLS:C4280359 is_a: HP:0006293 ! Agenesis of maxillary central incisor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:20:25Z [Term] id: HP:0011046 name: Agenesis of primary maxillary central incisor def: "Agenesis of upper central primary incisor." [https://orcid.org/0000-0002-9338-3017] comment: This feature is to be distinguished from single central upper incisor, which is median. synonym: "Absence of deciduous maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of primary maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of upper front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of deciduous maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of deciduous maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of primary maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing deciduous maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing primary maxillary central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper front milk tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023571 xref: UMLS:C4280357 is_a: HP:0006293 ! Agenesis of maxillary central incisor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:21:41Z [Term] id: HP:0011047 name: Agenesis of primary mandibular central incisor def: "Agenesis of lower primary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of deciduous mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of primary mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of deciduous lower central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of primary lower central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of deciduous mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of primary mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing deciduous mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing lower central incisor milk tooth" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing lower front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing lower front milk tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing lower front primary tooth" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing primary mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023570 xref: UMLS:C4280355 xref: UMLS:C4280356 is_a: HP:0006355 ! Agenesis of mandibular central incisor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:14:55Z [Term] id: HP:0011048 name: Agenesis of permanent mandibular central incisor def: "Agenesis of lower secondary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of permanent lower central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of permanent lower front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of permanent mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of adult mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of permanent mandibular central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing adult lower central incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent lower central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent lower front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent mandibular central incisor" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023569 xref: UMLS:C4280354 is_a: HP:0006355 ! Agenesis of mandibular central incisor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:16:08Z [Term] id: HP:0011049 name: Agenesis of primary maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of deciduous maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of primary maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of deciduous maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of deciduous maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of primary maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing deciduous maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing primary maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023568 xref: UMLS:C4280353 is_a: HP:0000690 ! Agenesis of maxillary lateral incisor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:31:10Z [Term] id: HP:0011050 name: Agenesis of permanent maxillary lateral incisor def: "Agenesis of one or more upper lateral secondary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of permanent maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of permanent upper lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of permanent maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of permanent upper lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent upper lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023567 xref: UMLS:C4280352 is_a: HP:0000690 ! Agenesis of maxillary lateral incisor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:32:17Z [Term] id: HP:0011051 name: Agenesis of premolar def: "Agenesis of premolar tooth." [https://orcid.org/0000-0002-9338-3017] comment: Note that premolar teeth occur only in the permanent dentition. synonym: "Absence of bicuspid" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of premolar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing bicuspid" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023566 xref: UMLS:C4280351 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011076 ! Abnormality of premolar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:36:44Z [Term] id: HP:0011052 name: Agenesis of maxillary premolar def: "Agenesis of maxillary premolar." [https://orcid.org/0000-0002-9338-3017] comment: Note that premolar teeth occur only in the permanent dentition. synonym: "Absence of maxillary bicuspid" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of maxillary premolar" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of upper premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of maxillary bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of maxillary bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of maxillary premolar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing maxillary premolar" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper bicuspid" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023565 xref: UMLS:C4280350 is_a: HP:0011051 ! Agenesis of premolar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:39:06Z [Term] id: HP:0011053 name: Agenesis of mandibular premolar def: "Agenesis of mandibular premolar." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of lower premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of mandibular premolar" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of mandibular premolar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing lower premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing mandibular premolar" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023564 xref: UMLS:C4280349 is_a: HP:0011051 ! Agenesis of premolar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:40:37Z [Term] id: HP:0011054 name: Agenesis of molar def: "Agenesis of molar tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absent molars" EXACT layperson [] synonym: "Failure of development of molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021203 xref: UMLS:C4280348 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011077 ! Abnormality of molar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:41:46Z [Term] id: HP:0011055 name: Agenesis of permanent molar def: "Agenesis of secondary molar tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of adult molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of permanent molar" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of secondary molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of permanent molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of secondary molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing adult molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing permanent molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023563 xref: UMLS:C4280347 is_a: HP:0011054 ! Agenesis of molar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:44:27Z [Term] id: HP:0011056 name: Agenesis of first permanent molar tooth def: "Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of first permanent molar" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of six year molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of six year molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of first permanent molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of six year molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing first permanent molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing six year molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023562 xref: UMLS:C4280346 is_a: HP:0011055 ! Agenesis of permanent molar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:45:27Z [Term] id: HP:0011057 name: Agenesis of second permanent molar def: "Agenesis of either mandibular second permanent molar or maxillary second permanent molar." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of second permanent molar" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of twelve year molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of twelve year molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of second permanent molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of twelve year molar" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing second permanent molar" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing twelve year molar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023561 xref: UMLS:C4280257 is_a: HP:0011055 ! Agenesis of permanent molar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T11:47:58Z [Term] id: HP:0011058 name: Generalized periodontitis def: "A generalized form of periodontitis." [https://orcid.org/0000-0002-9338-3017] synonym: "Generalised gum disease" BROAD uk_spelling [] synonym: "Generalised periodontal disease" EXACT uk_spelling [] synonym: "Generalised periodontitis" EXACT uk_spelling [] synonym: "Generalized gum disease" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Generalized periodontal disease" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Widespread gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023560 xref: UMLS:C4280345 is_a: HP:0000704 ! Periodontitis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T12:23:22Z [Term] id: HP:0011059 name: Localized periodontitis def: "A localized form of periodontitis." [https://orcid.org/0000-0002-9338-3017] synonym: "Limited area of gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Localised gum disease" BROAD uk_spelling [] synonym: "Localised periodontal disease" EXACT uk_spelling [] synonym: "Localised periodontitis" EXACT uk_spelling [] synonym: "Localized gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Localized periodontal disease" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023559 xref: UMLS:C4280344 is_a: HP:0000704 ! Periodontitis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T12:26:35Z [Term] id: HP:0011060 name: Dentinogenesis imperfecta limited to primary teeth def: "Developmental dysplasia of dentin affecting only the primary dentition." [https://orcid.org/0000-0002-9338-3017] synonym: "Dentinogenesis imperfecta of baby teeth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:109492001 xref: UMLS:C0011430 xref: UMLS:C4023558 is_a: HP:0000703 ! Dentinogenesis imperfecta property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T12:26:32Z [Term] id: HP:0011061 name: Abnormality of dental structure def: "An abnormality of the structure or composition of the teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of tooth part" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of tooth structure" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023557 is_a: HP:0000164 ! Abnormality of the dentition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T01:44:04Z [Term] id: HP:0011062 name: Misalignment of incisors def: "Misaligned incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of alignment of incisors" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of position of incisors" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked incisors" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malposition of incisors" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Misalignment of incisors" EXACT layperson [] xref: UMLS:C4023556 xref: UMLS:C4280343 is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0000692 ! Tooth malposition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T01:57:43Z [Term] id: HP:0011063 name: Abnormal incisor morphology def: "An abnormality of morphology of the incisor tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of incisor morphology" EXACT [] synonym: "Abnormality of shape of incisor" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023555 is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0006482 ! Abnormal dental morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T02:06:54Z [Term] id: HP:0011064 name: Abnormal number of incisors def: "The presence of an altered number of the incisor teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormal number of front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal number of incisors" EXACT layperson [] xref: UMLS:C4023554 is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0006483 ! Abnormal number of teeth property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T02:09:16Z [Term] id: HP:0011065 name: Conical incisor alt_id: HP:0000673 alt_id: HP:0006345 alt_id: HP:0011066 def: "An abnormal conical morphology of the incisor tooth." [https://orcid.org/0000-0002-9338-3017] comment: Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are. synonym: "Cone shaped front tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Conoid incisor" EXACT [] synonym: "Peg shaped front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped incisors" EXACT [] synonym: "Peg-shaped incisors" EXACT [] synonym: "Peg-shaped tooth" EXACT [] synonym: "Pointed front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed incisor" RELATED [] synonym: "Shark tooth incisor" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856136 xref: UMLS:C4020759 xref: UMLS:C4280341 xref: UMLS:C4280342 is_a: HP:0000698 ! Conical tooth is_a: HP:0011063 ! Abnormal incisor morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T02:14:34Z [Term] id: HP:0011067 name: Mesiodens def: "A supernumerary tooth in the midline between the maxillary central incisors." [https://orcid.org/0000-0002-9338-3017, PMID:18262485, PMID:31468724] comment: A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors. Mesiodens is the most common supernumerary tooth. Typically, they are small. They are usually conical in shape but may have heterogeneous forms. Mesiodens may remain unerupted and cause failure of a permanent incisor to erupt. Mesiodens may develop in an inverted position. synonym: "Extra tooth" BROAD layperson [] synonym: "Extra tooth in the midline" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Median supernumary tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Mesiodentes" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Midline supernumary tooth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:17802000 xref: SNOMEDCT_US:266414008 xref: SNOMEDCT_US:367534004 xref: SNOMEDCT_US:8666004 xref: UMLS:C0040457 xref: UMLS:C0266030 xref: UMLS:C4280340 is_a: HP:0011069 ! Supernumerary tooth property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T02:38:59Z [Term] id: HP:0011068 name: Odontoma def: "The presence of an odontoma." [https://orcid.org/0000-0002-9338-3017] comment: MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma). synonym: "Odontomas" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:79074005 xref: UMLS:C0028882 is_a: HP:0010566 ! Hamartoma is_a: HP:0100612 ! Odontogenic neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T02:40:52Z [Term] id: HP:0011069 name: Supernumerary tooth alt_id: HP:0000672 def: "The presence of one or more teeth additional to the normal number." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Age-related physiological sequential eruption should be taken into account during evaluation. The type and the location of the additional tooth/teeth should be added to the description. Supernumerary teeth are uncommon (in 0.21% of deciduous dentitions and in 0.9% of permanent dentitions), and often abnormal positioning of a normal number of teeth is wrongly classified as supernumerary teeth. Supernumerary teeth are most frequent in the upper maxilla, and typically, a single additional tooth is present. We discourage the use of distodens, distomolars (an extra fourth molar posterior to the third molar), paramolars (supernumerary tooth in the molar region) but rather to mention the presence of the supernumerary tooth mesial to or distal to a tooth from the normal series. Diagnosing a supernumerary tooth may require radiographic examination. A supernumerary tooth present between the maxillary central incisors is called mesiodens. subset: hposlim_core synonym: "Extra teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperdontia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased number of teeth" EXACT layperson [] synonym: "Increased tooth count" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "More teeth than normal" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumary dentition" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumary teeth" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumerary teeth" EXACT [] synonym: "Supplemental dentition" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Supplemental teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth, supernumerary" EXACT [] xref: SNOMEDCT_US:266414008 xref: SNOMEDCT_US:367534004 xref: SNOMEDCT_US:8666004 xref: UMLS:C0040457 is_a: HP:0006483 ! Abnormal number of teeth property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T02:52:19Z [Term] id: HP:0011070 name: Abnormal molar morphology def: "An abnormality of morphology of molar tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormal shape of molar tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of molar morphology" EXACT [] xref: UMLS:C4023553 is_a: HP:0006482 ! Abnormal dental morphology is_a: HP:0011077 ! Abnormality of molar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T03:45:51Z [Term] id: HP:0011071 name: Abnormal permanent molar morphology def: "An abnormality of morphology of permanent molar." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of permanent molar morphology" EXACT [] synonym: "Abnormality of shape of adult molar" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of shape of permanent molar" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023552 is_a: HP:0011070 ! Abnormal molar morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T03:48:43Z [Term] id: HP:0011072 name: Rootless teeth synonym: "Absence of tooth root" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of tooth root" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of tooth root" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing tooth root" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Rootless teeth" EXACT layperson [] synonym: "Teeth without roots" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth with dentin dysplasia type i" RELATED [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:109493006 xref: UMLS:C0399379 xref: UMLS:C4082200 is_a: HP:0006486 ! Abnormal dental root morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T03:56:41Z [Term] id: HP:0011073 name: Abnormality of dental color def: "A developmental defect of tooth color." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of dental color" EXACT layperson [] synonym: "Abnormality of dental colour" EXACT uk_spelling [] synonym: "Abnormality of dental shade" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of tooth color" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of tooth colour" EXACT uk_spelling [] synonym: "Abnormality of tooth shade" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023551 is_a: HP:0011061 ! Abnormality of dental structure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T05:20:03Z [Term] id: HP:0011074 name: Localized hypoplasia of dental enamel def: "A localized form of developmental hypoplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017] synonym: "Localised dysplasia of tooth enamel" RELATED uk_spelling [] synonym: "Localised hypoplasia of dental enamel" EXACT uk_spelling [] synonym: "Localised hypoplasia of tooth enamel" EXACT uk_spelling [] synonym: "Localized dysplasia of tooth enamel" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Localized hypoplasia of tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023550 xref: UMLS:C4280339 is_a: HP:0006297 ! Enamel hypoplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T05:13:09Z [Term] id: HP:0011075 name: Green teeth def: "A green staining of teeth." [PMID:12686928] comment: Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis. synonym: "Green colored teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Green coloured teeth" EXACT uk_spelling [] synonym: "Green teeth" EXACT layperson [] synonym: "Green tooth shade" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023549 is_a: HP:0011073 ! Abnormality of dental color property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-10T05:23:18Z [Term] id: HP:0011076 name: Abnormality of premolar def: "An abnormality of premolar tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of premolar" EXACT layperson [] xref: UMLS:C4023548 is_a: HP:0000164 ! Abnormality of the dentition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T09:56:17Z [Term] id: HP:0011077 name: Abnormality of molar def: "An abnormality of molar tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of molar" EXACT layperson [] xref: UMLS:C4023547 is_a: HP:0000164 ! Abnormality of the dentition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T09:57:49Z [Term] id: HP:0011078 name: Abnormality of canine def: "An abnormality of canine tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of canine" EXACT layperson [] synonym: "Abnormality of eye tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023546 is_a: HP:0000164 ! Abnormality of the dentition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T09:58:41Z [Term] id: HP:0011079 name: Impacted tooth def: "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth)." [https://orcid.org/0000-0002-9338-3017] subset: hposlim_core synonym: "Buried tooth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Impacted tooth" EXACT layperson [] synonym: "Retained tooth" EXACT [] xref: SNOMEDCT_US:129263008 xref: SNOMEDCT_US:235104008 xref: UMLS:C0040456 xref: UMLS:C4280338 is_a: HP:0000706 ! Eruption failure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T10:18:55Z [Term] id: HP:0011080 name: Abnormal premolar morphology def: "An abnormality of morphology of premolar tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of bicuspid morphology" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of premolar morphology" EXACT [] synonym: "Abnormality of shape of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of shape of premolar" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023545 is_a: HP:0006482 ! Abnormal dental morphology is_a: HP:0011076 ! Abnormality of premolar property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T10:33:42Z [Term] id: HP:0011081 name: Incisor macrodontia def: "Increased size of the incisor tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Hyperplasia of incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of incisor" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of incisor" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large incisor" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023544 xref: UMLS:C4280337 is_a: HP:0001572 ! Macrodontia is_a: HP:0011063 ! Abnormal incisor morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T10:39:44Z [Term] id: HP:0011082 name: Conical primary incisor def: "An abnormal conical morphology of the primary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Cone shaped front baby tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Conical deciduous incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Conoid primary incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped primary incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed front baby tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed primary incisor" RELATED layperson [] synonym: "Primary front shark tooth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023543 is_a: HP:0011065 ! Conical incisor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T11:06:57Z [Term] id: HP:0011083 name: Conical maxillary incisor def: "An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both." [https://orcid.org/0000-0002-9338-3017] synonym: "Cone shaped maxillary incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cone shaped upper front tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Conoid maxillary incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped upper front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed maxillary incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed upper front tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper front shark tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023542 is_a: HP:0011065 ! Conical incisor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T11:36:11Z [Term] id: HP:0011084 name: Hypocalcification of dental enamel def: "A form of hypomineralization of enamel characterized by reduced calcification." [PMID:18499550] synonym: "Decreased enamel calcification" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Poorly calcified tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023541 is_a: HP:0006285 ! Enamel hypomineralization property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T12:08:46Z [Term] id: HP:0011085 name: Hypomature dental enamel def: "A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color." [https://orcid.org/0000-0002-9338-3017] comment: Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin. synonym: "Immature tooth enamel" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Soft teeth" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Soft tooth enamel" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023540 xref: UMLS:C4280266 xref: UMLS:C4280336 is_a: HP:0006285 ! Enamel hypomineralization property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T12:10:33Z [Term] id: HP:0011086 name: Dentinogenesis imperfecta of primary and permanent teeth def: "Developmental dysplasia of dentin or both the primary dentition and the permanent dentition." [https://orcid.org/0000-0002-9338-3017] synonym: "Dentinogenesis imperfecta of adult and baby teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dentinogenesis imperfecta of both sets of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023539 is_a: HP:0000703 ! Dentinogenesis imperfecta property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T12:28:37Z [Term] id: HP:0011087 name: Talon cusp def: "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown)." [https://orcid.org/0000-0002-9338-3017] subset: hposlim_core synonym: "Dens evaginatus" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Extra cusp on inside of front tooth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Talon cusps" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:234955005 xref: SNOMEDCT_US:63691004 xref: UMLS:C0266034 xref: UMLS:C0399357 xref: UMLS:C4280335 is_a: HP:0033777 ! Supernumerary cusp property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T02:00:28Z [Term] id: HP:0011088 name: Dens in dente def: "An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Dens in dente is Latin for tooth inside of tooth. Dens in dente results from an invagination of the enamel organ into the dental papilla, extending into the root before initiation of mineralization. The permanent maxillary lateral incisors are the most frequently involved teeth, but it can occur in any tooth type. It occurs more frequently in the permanent dentition and in maxillary teeth. The diagnosis dens in dente needs to be confirmed by X-rays. synonym: "Dens invaginatus" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth within a tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:55197001 xref: UMLS:C0011320 is_a: HP:0011063 ! Abnormal incisor morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T02:07:28Z [Term] id: HP:0011089 name: Double tooth def: "Fusion of two adjacent teeth." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: The fusion can be complete or be limited to the crown or the root. Typically, incisors and canines form double teeth. Double teeth are more common in the deciduous dentition and rare in the permanent dentition. Double teeth encompasses fusion, concrescence, and gemination of teeth, which some authors describe with the twinning. synonym: "Conjoined teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Double tooth" EXACT layperson [] synonym: "Teeth, double" EXACT [] synonym: "Twinning tooth" EXACT [] xref: SNOMEDCT_US:1744008 xref: UMLS:C0016873 is_a: HP:0006482 ! Abnormal dental morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T02:13:26Z [Term] id: HP:0011090 name: Fused teeth def: "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch." [PMID:18167487] subset: hposlim_core synonym: "Fused teeth" EXACT layperson [] synonym: "Fusion of teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Joined teeth" EXACT layperson [] xref: SNOMEDCT_US:1744008 xref: UMLS:C0016873 is_a: HP:0011089 ! Double tooth property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T02:17:04Z [Term] id: HP:0011091 name: Gemination def: "The development of two teeth from a single tooth bud, leading to a larger fused tooth." [PMID:18167487] comment: If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal. synonym: "Gemination of tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Splitting of crown of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:40273006 xref: UMLS:C0266033 is_a: HP:0011089 ! Double tooth property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T02:19:11Z [Term] id: HP:0011092 name: Mulberry molar def: "Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry." [] synonym: "Syphilitic permanent first molar" NARROW [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:109436001 xref: UMLS:C0266024 is_a: HP:0011070 ! Abnormal molar morphology is_a: HP:0033777 ! Supernumerary cusp property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T02:25:56Z [Term] id: HP:0011093 name: Molarization of premolar def: "Increased size and molar morphology of premolar tooth." [https://orcid.org/0000-0002-9338-3017, PMID:15587104] synonym: "Enlarged premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of premolar" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Molar shape of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Molar shape of premolar" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Molarization of bicuspid" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1404304 xref: UMLS:C4280334 is_a: HP:0011080 ! Abnormal premolar morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T02:32:39Z [Term] id: HP:0011094 name: Increased overbite def: "Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] synonym: "Deep bite" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deep overbite" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased overlap of upper and lower incisors" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Overbite" EXACT layperson [] synonym: "Scissors bite" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Supraocclusion" EXACT [] xref: SNOMEDCT_US:10816007 xref: SNOMEDCT_US:251293001 xref: SNOMEDCT_US:60476005 xref: SNOMEDCT_US:63783001 xref: UMLS:C0266063 xref: UMLS:C0266067 xref: UMLS:C1305740 is_a: HP:0000692 ! Tooth malposition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T05:13:34Z [Term] id: HP:0011095 name: Overjet def: "An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure." [https://orcid.org/0000-0002-9338-3017] synonym: "Abnormality of horizontal incisor relationship" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Buck teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protrusion of the maxillary incisors" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Protrusion of upper teeth in front of lower teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper teeth sticking out forward" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:251292006 xref: SNOMEDCT_US:70305005 xref: UMLS:C0596028 is_a: HP:0000692 ! Tooth malposition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-11T05:15:43Z [Term] id: HP:0011096 name: Peripheral demyelination alt_id: HP:0003381 alt_id: HP:0006939 alt_id: HP:0007282 def: "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] comment: This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block. synonym: "Demyelination" EXACT [] xref: UMLS:C0878575 is_a: HP:0003130 ! Abnormal peripheral myelination property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-03-28T09:01:02Z [Term] id: HP:0011097 name: Epileptic spasm def: "A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages" [HPO_CONTRIBUTOR:jalbers, PMID:28276060] comment: The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). synonym: "Epileptic spasms" EXACT plural_form [] synonym: "Salaam convulsion" EXACT [] synonym: "Salaam convulsions" EXACT plural_form [] synonym: "Salaam seizure" EXACT [] synonym: "Salaam seizures" EXACT plural_form [] synonym: "West syndrome" RELATED [] xref: SNOMEDCT_US:28055006 xref: UMLS:C0037769 xref: UMLS:C1527366 is_a: HP:0020219 ! Motor seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-05-04T01:56:31Z [Term] id: HP:0011098 name: Speech apraxia def: "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [https://orcid.org/0000-0002-0736-9199] comment: Speech apraxia may co-occur with oral apraxia and limb apraxia. synonym: "Apraxia of speech" EXACT [] synonym: "Speech dyspraxia" RELATED [] synonym: "Verbal dyspraxia" EXACT [] xref: SNOMEDCT_US:361276003 xref: SNOMEDCT_US:361277007 xref: SNOMEDCT_US:74227009 xref: UMLS:C0264611 xref: UMLS:C0349391 is_a: HP:0002186 ! Apraxia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-05-15T08:57:11Z [Term] id: HP:0011099 name: Spastic hemiparesis def: "Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes." [https://orcid.org/0000-0002-0736-9199] synonym: "Spastic hemiplegia" EXACT [] xref: SNOMEDCT_US:79633009 xref: UMLS:C0154694 is_a: HP:0001269 ! Hemiparesis is_a: HP:0034353 ! Appendicular spasticity is_a: HP:0100021 ! Cerebral palsy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-04T09:10:40Z [Term] id: HP:0011100 name: Intestinal atresia def: "An abnormal closure, or atresia of the tubular structure of the intestine." [https://orcid.org/0000-0002-0736-9199] comment: Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen. xref: UMLS:C0021828 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0002589 ! Gastrointestinal atresia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-04T09:16:25Z [Term] id: HP:0011102 name: Ileal atresia def: "An abnormal closure, or atresia of the tubular structure of the ileum." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:25896009 xref: UMLS:C0266176 is_a: HP:0001549 ! Abnormal ileum morphology is_a: HP:0011100 ! Intestinal atresia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-04T09:22:34Z [Term] id: HP:0011103 name: Abnormal left ventricular outflow tract morphology def: "An abnormality of the outflow tract of the left ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the left ventricular outflow tract" EXACT [] xref: SNOMEDCT_US:253545000 xref: UMLS:C0344916 is_a: HP:0001711 ! Abnormal left ventricle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-05T04:15:50Z [Term] id: HP:0011104 name: Abnormality of blood volume homeostasis def: "An abnormality in the amount of volume occupied by intravascular blood." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023537 is_a: HP:0011028 ! Abnormality of blood circulation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-07T11:16:33Z [Term] id: HP:0011105 name: Hypervolemia def: "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Fluid overload in blood" EXACT layperson [https://en.wikipedia.org/wiki/hypervolemia, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:21639008 xref: UMLS:C0546817 is_a: HP:0011104 ! Abnormality of blood volume homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-07T11:17:32Z [Term] id: HP:0011106 name: Hypovolemia def: "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Depleted blood volume" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:28560003 xref: UMLS:C0546884 is_a: HP:0011104 ! Abnormality of blood volume homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-07T11:18:54Z [Term] id: HP:0011107 name: Recurrent aphthous stomatitis def: "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." [https://orcid.org/0000-0002-0736-9199] comment: Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. synonym: "Aphthous stomatitis" RELATED [] synonym: "Buccal aphthous ulcers" RELATED [] synonym: "Recurrent aphthous ulcers" RELATED [] synonym: "Recurrent canker sores" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Recurrent oral aphthae" EXACT [] xref: SNOMEDCT_US:110426005 xref: SNOMEDCT_US:398870000 xref: SNOMEDCT_US:426965005 xref: SNOMEDCT_US:427617000 xref: UMLS:C0038363 xref: UMLS:C2937365 is_a: HP:0010280 ! Stomatitis is_a: HP:0031446 ! Erosion of oral mucosa property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-08T07:11:09Z [Term] id: HP:0011108 name: Recurrent sinusitis def: "A recurrent form of sinusitis." [https://orcid.org/0000-0002-0736-9199] comment: Recurring inflammation of the paranasal sinuses. synonym: "Recurrent sinus disease" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Recurrent sinus infections" EXACT [] synonym: "Sinusitis, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:195788001 xref: UMLS:C0581354 xref: UMLS:C4280333 is_a: HP:0000246 ! Sinusitis is_a: HP:0002788 ! Recurrent upper respiratory tract infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-10T07:31:22Z [Term] id: HP:0011109 name: Chronic sinusitis def: "A chronic form of sinusitis." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic sinus disease" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Sinusitis, chronic" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:40055000 xref: UMLS:C0149516 xref: UMLS:C0748720 is_a: HP:0000246 ! Sinusitis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-10T07:33:14Z [Term] id: HP:0011110 name: Recurrent tonsillitis def: "Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis." [https://orcid.org/0000-0002-0736-9199, PMID:15897415] synonym: "Recurrent inflammation of tonsils" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:90176007 xref: UMLS:C0040425 is_a: HP:0002719 ! Recurrent infections is_a: HP:0100765 ! Abnormality of the tonsils property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-10T07:46:38Z [Term] id: HP:0011111 name: Abnormal immune serum protein physiology def: "An abnormality of the concentration or function of circulating immune proteins." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of immune serum protein physiology" EXACT [] xref: UMLS:C4023536 is_a: HP:0010978 ! Abnormality of immune system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T08:58:47Z [Term] id: HP:0011112 name: Abnormal circulating cytokine concentration def: "Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of serum cytokine level" EXACT [] xref: MP:0010210 xref: UMLS:C4023535 is_a: HP:0011111 ! Abnormal immune serum protein physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:03:40Z [Term] id: HP:0011113 name: Abnormality of cytokine secretion def: "An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells)." [https://orcid.org/0000-0002-0736-9199] xref: MP:0003009 xref: UMLS:C4023534 is_a: HP:0011111 ! Abnormal immune serum protein physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:07:24Z [Term] id: HP:0011114 name: Defective production of NFKB1-dependent cytokines def: "An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023533 is_a: HP:0011113 ! Abnormality of cytokine secretion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:12:15Z [Term] id: HP:0011115 name: Abnormal circulating chemokine concentration def: "An abnormality in the production or cellular release of a chemokine (a class of cytokines)." [] synonym: "Abnormality of chemokine secretion" EXACT [] xref: UMLS:C4023532 is_a: HP:0011112 ! Abnormal circulating cytokine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:14:25Z [Term] id: HP:0011116 name: Abnormal circulating interferon concentration alt_id: HP:0030354 def: "The concentration of an interferon is outside the limits of normal." [] synonym: "Abnormal serum interferon level" EXACT [] synonym: "Abnormality of interferon secretion" EXACT [] xref: UMLS:C4023531 is_a: HP:0011112 ! Abnormal circulating cytokine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:14:43Z [Term] id: HP:0011117 name: Abnormal circulating interleukin concentration alt_id: HP:0030782 def: "The concentration of an interleukin (a class of cytokines) is outside the limits of normal." [PMID:28487810] synonym: "Abnormal serum IL level" EXACT abbreviation [] synonym: "Abnormal serum interleukin level" EXACT [] synonym: "Abnormality of IL secretion" EXACT abbreviation [] synonym: "Abnormality of interleukin secretion" EXACT [] xref: UMLS:C4023530 is_a: HP:0011112 ! Abnormal circulating cytokine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:16:10Z [Term] id: HP:0011118 name: Abnormality of tumor necrosis factor secretion def: "An abnormality in the production or cellular release of tumor necrosis factor." [] synonym: "Abnormality of cachectin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of cachexin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of tumour necrosis factor secretion" EXACT uk_spelling [] xref: MP:0008556 xref: UMLS:C4023529 is_a: HP:0011113 ! Abnormality of cytokine secretion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:16:58Z [Term] id: HP:0011119 name: Abnormal nasal dorsum morphology def: "An abnormality of the nasal dorsum, also known as the nasal ridge." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip. synonym: "Abnormal morphology of dorsum of nose" NARROW [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the nasal dorsum" EXACT [] synonym: "Abnormality of the nasal ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the nasal ridge" EXACT [] synonym: "Crooked dorsum of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked nasal dorsum" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked nasal ridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the dorsum of the nose" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal dorsum" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal ridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the dorsum of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal dorsum" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal ridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021202 xref: UMLS:C4280332 is_a: HP:0010938 ! Abnormal external nose morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:37:47Z [Term] id: HP:0011120 name: Concave nasal ridge def: "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. subset: hposlim_core synonym: "Boxer's nasal deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Boxer's nose deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Concave dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Concave nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Saddle nose" EXACT layperson [] synonym: "Saddle nose deformity" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Saddle shaped nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Ski jump nose" EXACT layperson [] xref: SNOMEDCT_US:710234009 xref: UMLS:C0264169 is_a: HP:0011119 ! Abnormal nasal dorsum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T09:39:55Z [Term] id: HP:0011121 name: Abnormal skin morphology def: "Any morphological abnormality of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal skin morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal skin structure" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of skin morphology" EXACT [] xref: Fyler:4133 xref: UMLS:C4023528 is_a: HP:0000951 ! Abnormality of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T10:03:23Z [Term] id: HP:0011122 name: Abnormality of skin physiology def: "Any abnormality of the physiological function of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of skin physiology" EXACT layperson [] xref: UMLS:C4023527 is_a: HP:0000951 ! Abnormality of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T10:05:14Z [Term] id: HP:0011123 name: Inflammatory abnormality of the skin alt_id: HP:0002727 alt_id: HP:0007423 def: "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal tendency to infections of the skin" EXACT [] synonym: "Inflammatory abnormality of the skin" EXACT layperson [] synonym: "Inflammatory skin disease" RELATED [] synonym: "Skin inflammation" EXACT layperson [] xref: MP:0004947 xref: SNOMEDCT_US:703938007 xref: UMLS:C0011603 xref: UMLS:C3875321 is_a: HP:0011122 ! Abnormality of skin physiology is_a: HP:0012649 ! Increased inflammatory response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T10:06:04Z [Term] id: HP:0011124 name: Abnormal epidermal morphology def: "An abnormality of the morphology of the epidermis." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of epidermal morphology" EXACT [] xref: UMLS:C4023526 is_a: HP:0011121 ! Abnormal skin morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T10:11:28Z [Term] id: HP:0011125 name: Abnormality of dermal melanosomes def: "An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023525 is_a: HP:0001000 ! Abnormality of skin pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-12T10:19:27Z [Term] id: HP:0011126 name: Nephroptosis def: "A significant descent of the kidney as the patient moves from the supine to the erect position." [https://orcid.org/0000-0002-0736-9199, PMID:18990154] comment: Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery. synonym: "Floating kidney" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Renal ptosis" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1384594 is_a: HP:0100542 ! Abnormal localization of kidney property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-16T07:34:25Z [Term] id: HP:0011127 name: Perioral eczema def: "A type of eczema that occurs in the lips and perioral area." [https://orcid.org/0000-0002-0736-9199] comment: Perioral eczema mainly affects children. synonym: "Eczema around the mouth" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1396126 is_a: HP:0000964 ! Eczematoid dermatitis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-16T07:41:19Z [Term] id: HP:0011128 name: Acute esophageal necrosis def: "A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction." [https://orcid.org/0000-0002-0736-9199, PMID:17322991] xref: UMLS:C4023524 is_a: HP:0002031 ! Abnormal esophagus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-18T08:48:53Z [Term] id: HP:0011129 name: Bilateral fetal pyelectasis def: "A bilateral form of fetal pyelectasis." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral fetal pyelectasia" EXACT [] synonym: "Bilateral foetal pyelectasia" EXACT uk_spelling [] synonym: "Bilateral foetal pyelectasis" EXACT uk_spelling [] xref: UMLS:C4023523 is_a: HP:0010945 ! Fetal pyelectasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T10:00:34Z [Term] id: HP:0011130 name: Abnormal renal calyx morphology def: "Any abnormality of the morphology of the major calices or minor calices of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of renal calyx morphology" EXACT [] xref: UMLS:C4023522 is_a: HP:0012210 ! Abnormal renal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T10:06:45Z [Term] id: HP:0011131 name: Perianal dermatitis def: "The presence of a rash (change of color and texture) of the perianal skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Perianal rash" EXACT layperson [] xref: UMLS:C0240705 is_a: HP:0034915 ! Abnormal anus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T12:16:41Z [Term] id: HP:0011132 name: Chronic furunculosis def: "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection." [https://orcid.org/0000-0002-0736-9199] comment: Note that a confluence of several furuncles results in a carbuncle. xref: UMLS:C4023521 is_a: HP:0005406 ! Recurrent bacterial skin infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T10:25:47Z [Term] id: HP:0011133 name: Increased sensitivity to ionizing radiation def: "An abnormally increased sensitivity to the effects of ionizing radiation." [https://orcid.org/0000-0002-0736-9199] comment: Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. synonym: "Increased sensitivity to ionizing radiation" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021850 is_a: HP:0011017 ! Abnormal cellular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T11:04:20Z [Term] id: HP:0011134 name: Low-grade fever def: "Mild fever that does not exceed 38.5 degrees centigrade." [https://orcid.org/0000-0002-0736-9199] synonym: "Low-grade fever" EXACT layperson [] synonym: "Mild fever" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:304213008 xref: UMLS:C0239574 is_a: HP:0001945 ! Fever property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T12:19:44Z [Term] id: HP:0011135 name: Aplasia/Hypoplasia of the sweat glands def: "Absence or developmental hypoplasia of the sweat glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small sweat glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped sweat glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023520 is_a: HP:0000971 ! Abnormal sweat gland morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T02:01:50Z [Term] id: HP:0011136 name: Aplasia of the sweat glands def: "Absence of the sweat glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent sweat glands" EXACT layperson [] synonym: "Lack of sweat glands" EXACT layperson [] xref: UMLS:C2677485 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T02:06:44Z [Term] id: HP:0011137 name: Non-pruritic urticaria def: "Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus." [https://orcid.org/0000-0002-0736-9199] comment: Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus. synonym: "Non-itchy hives" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4023519 is_a: HP:0011276 ! Vascular skin abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T02:17:55Z [Term] id: HP:0011138 name: Abnormal skin adnexa morphology def: "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal skin appendage" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of skin adnexa morphology" EXACT [] xref: UMLS:C4023518 is_a: HP:0001574 ! Abnormality of the integument property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-19T06:25:34Z [Term] id: HP:0011139 name: Gastric duplication def: "Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach." [https://orcid.org/0000-0002-0736-9199] comment: Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood. synonym: "Gastric duplication cyst" EXACT [] xref: UMLS:C4021201 is_a: HP:0002577 ! Abnormal stomach morphology is_a: HP:0011140 ! Gastrointestinal duplication property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-25T08:57:09Z [Term] id: HP:0011140 name: Gastrointestinal duplication def: "A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus." [https://orcid.org/0000-0002-0736-9199, PMID:21218094] synonym: "GI duplication" EXACT abbreviation [] xref: SNOMEDCT_US:33257003 xref: UMLS:C0266019 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-25T09:02:50Z [Term] id: HP:0011141 name: Age-related cataract def: "A type of cataract (opacification of the lens) that forms during the course of aging." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] comment: The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibers throughout life, so with increasing age the lens becomes more compact and thicker. synonym: "Clouding of the lens of the eye with age" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:39450006 xref: UMLS:C0036646 is_a: HP:0000518 ! Cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-27T09:41:38Z [Term] id: HP:0011142 name: Age-related nuclear cataract def: "A type of age-related cataract that primarily affects the nucleus of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] comment: As the lens ages, new layers of fibers are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. xref: UMLS:C1832423 is_a: HP:0011141 ! Age-related cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-27T09:49:20Z [Term] id: HP:0011143 name: Age-related cortical cataract def: "A type of age-related cataract that primarily affects the cortex of the lens." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] comment: The cortex of the lens is made of the newest lens fibers. With aging, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. xref: UMLS:C2880562 is_a: HP:0011141 ! Age-related cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-27T09:50:54Z [Term] id: HP:0011144 name: Age-related posterior subcapsular cataract def: "A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule." [https://orcid.org/0000-0002-0736-9199, PMID:15708105] xref: UMLS:C4023517 is_a: HP:0011141 ! Age-related cataract property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-06-27T09:52:45Z [Term] id: HP:0011145 name: Symptomatic seizures def: "A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed." [PMID:18184148] comment: While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more epileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute manifestation of the insult and may not recur when the underlying cause has been removed or the acute phase has elapsed. xref: UMLS:C4023516 is_a: HP:0001250 ! Seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T01:40:33Z [Term] id: HP:0011146 name: Dialeptic seizure def: "A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event." [PMID:9738682] comment: The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. synonym: "Behavioral arrest seizure with impairment of awareness irrespective of onset" EXACT [] synonym: "Behavioural arrest seizure with impairment of awareness irrespective of onset" EXACT uk_spelling [] synonym: "Unknown onset behavioral arrest seizure with impairment of awareness" EXACT [] synonym: "Unknown onset behavioural arrest seizure with impairment of awareness" EXACT uk_spelling [] is_a: HP:0001250 ! Seizure creation_date: 2011-10-18T01:47:30Z [Term] id: HP:0011147 name: Typical absence seizure def: "A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275] comment: In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. synonym: "Typical absence" EXACT [] synonym: "Typical absence seizures" EXACT plural_form [] xref: SNOMEDCT_US:230413002 xref: SNOMEDCT_US:432241000124101 xref: SNOMEDCT_US:50866000 xref: SNOMEDCT_US:79631006 xref: UMLS:C0014553 is_a: HP:0002121 ! Generalized non-motor (absence) seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T01:52:22Z [Term] id: HP:0011148 name: obsolete Absence seizures with special features is_obsolete: true replaced_by: HP:0002121 creation_date: 2011-10-18T01:56:54Z [Term] id: HP:0011149 name: Absence seizure with eyelid myoclonia def: "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure." [HPO_CONTRIBUTOR:jalbers, PMID:19469840, PMID:28276060, PMID:28276062, PMID:28276064] comment: This type of seizure was classified as a type of generalized non-motor seizure by the ILAE in 2017 because the absence predominates over the eyelid myoclonia. However, eyelid myoclonia can occur as a generalized-onset seizure without any absence, in which they may be better considered a motor seizure: see Eyelid myoclonia seizure. synonym: "Absence seizures with eyelid myoclonia" EXACT plural_form [] xref: UMLS:C4023513 is_a: HP:0002121 ! Generalized non-motor (absence) seizure is_a: HP:0032678 ! Eyelid myoclonia seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:03:21Z [Term] id: HP:0011150 name: Myoclonic absence seizure def: "Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017." [https://orcid.org/0000-0001-8486-0558, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609] synonym: "Myoclonic absence" EXACT [] synonym: "Myoclonic absences" EXACT plural_form [] xref: UMLS:C4023512 is_a: HP:0002121 ! Generalized non-motor (absence) seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:04:35Z [Term] id: HP:0011151 name: Atypical absence status epilepticus def: "Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure." [HPO_CONTRIBUTOR:jalbers] comment: In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. This form of seizure may be observed in Lennox-Gastaut syndrome. synonym: "Obtundation status" EXACT [] xref: UMLS:C4023511 is_a: HP:0032860 ! Generalized non-convulsive status epilepticus without coma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:09:55Z [Term] id: HP:0011152 name: Early onset absence seizures def: "Typical absence seizures starting before the age of 4 years." [https://orcid.org/0000-0001-8486-0558] synonym: "Early onset petit mal seizures" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4023510 is_a: HP:0011147 ! Typical absence seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:12:41Z [Term] id: HP:0011153 name: Focal motor seizure def: "A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] comment: A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex. synonym: "Focal motor seizures" EXACT plural_form [] synonym: "Localised motor seizure" EXACT uk_spelling [] synonym: "Localised motor seizures" EXACT uk_spelling [] synonym: "Localized motor seizure" EXACT [] synonym: "Localized motor seizures" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Partial motor seizure" EXACT [] synonym: "Partial motor seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849] synonym: "Segmental motor seizure" EXACT [] xref: SNOMEDCT_US:128612007 xref: SNOMEDCT_US:82401000 xref: UMLS:C0016399 is_a: HP:0007359 ! Focal-onset seizure is_a: HP:0020219 ! Motor seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:33:17Z [Term] id: HP:0011154 name: Focal autonomic seizure alt_id: HP:0011164 def: "An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] comment: Focal seizures with a subjective or objectively documented alteration of autonomic nervous system function at onset, involving but not limited to, cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions. Focal autonomic seizure is not a child of Epileptic aura (HP:0033348) as many Focal autonomic seizures are not purely subjective (required to be called an aura). synonym: "Focal autonomic seizures" EXACT plural_form [] xref: UMLS:C4023509 is_a: HP:0032679 ! Focal non-motor seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:23:31Z [Term] id: HP:0011155 name: obsolete Focal autonomic seizures with altered responsiveness property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0032755 creation_date: 2011-10-18T02:24:09Z [Term] id: HP:0011156 name: obsolete Focal autonomic seizures without altered responsiveness is_obsolete: true replaced_by: HP:0032740 creation_date: 2011-10-18T02:24:42Z [Term] id: HP:0011157 name: Focal sensory seizure def: "A focal sensory seizure is a type seizure beginning with a subjective sensation." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1511-5893, PMID:28276060, PMID:28276062, PMID:28276064] comment: A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer. synonym: "Focal sensory seizures" EXACT plural_form [] synonym: "Partial sensory seizure" EXACT [] synonym: "Sensory aura" EXACT [] xref: SNOMEDCT_US:18618006 xref: UMLS:C0236018 is_a: HP:0033348 ! Epileptic aura property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:26:40Z [Term] id: HP:0011158 name: Focal sensory seizure with auditory features def: "A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers, PMID:28276062, PMID:28276064] comment: More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe. synonym: "Auditory aura" EXACT [] synonym: "Focal auditory seizure" EXACT [] synonym: "Focal sensory auditory seizure" EXACT [] synonym: "Partial auditory seizure" EXACT [] xref: UMLS:C1838063 is_a: HP:0011157 ! Focal sensory seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:26:59Z [Term] id: HP:0011159 name: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena def: "A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature." [HPO_CONTRIBUTOR:jalbers, PMID:28276060] comment: This includes epigastric sensations (which may rise up to the chest or throat) such as upper abdominal discomfort, emptiness, tightness, churning, or hunger, as well as ictal nausea and ictal vomiting. synonym: "Abdominal aura" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Epigastric aura" EXACT [] synonym: "Epigastric auras" EXACT plural_form [] synonym: "Localised seizure with epigastric sensation" EXACT [] synonym: "Localized seizure with epigastric sensation" EXACT [] synonym: "Partial seizure with epigastric sensation" EXACT [] synonym: "Visceral aura" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4023506 is_a: HP:0011154 ! Focal autonomic seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:27:58Z [Term] id: HP:0011160 name: Focal sensory seizure with gustatory features def: "A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers, PMID:28276060] comment: These seizures involve the parietal operculum and the insula. synonym: "Focal gustatory seizure" EXACT [] synonym: "Focal sensory gustatory seizure" EXACT [] synonym: "Gustatory aura" EXACT [] synonym: "Gustatory auras" EXACT plural_form [] synonym: "Partial gustatory seizure" EXACT [] synonym: "Taste hallucinations" EXACT layperson [http://medical-dictionary.thefreedictionary.com/gustatory+aura, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:29139005 xref: UMLS:C0233766 is_a: HP:0011157 ! Focal sensory seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:28:36Z [Term] id: HP:0011161 name: Focal sensory seizure with olfactory features def: "Seizures characterized by olfactory phenomena as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers] comment: These seizures involve the mesial temporal or orbitofrontal regions. synonym: "Focal olfactory seizure" EXACT [] synonym: "Olfactory aura" EXACT [] synonym: "Olfactory auras" EXACT plural_form [] synonym: "Partial olfactory seizure" EXACT [] xref: UMLS:C4023504 is_a: HP:0011157 ! Focal sensory seizure is_a: HP:0033693 ! Phantosmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:28:55Z [Term] id: HP:0011162 name: obsolete Psychic auras property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0032680 creation_date: 2011-10-18T02:29:23Z [Term] id: HP:0011163 name: Focal sensory seizure with somatosensory features def: "A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers, PMID:28276060] comment: These seizures involve the sensorimotor cortex. synonym: "Focal somatosensory seizure" EXACT [] synonym: "Partial somatosensory seizure" EXACT [] synonym: "Somatosensory aura" EXACT [] synonym: "Somatosensory auras" EXACT plural_form [] xref: UMLS:C4023502 is_a: HP:0011157 ! Focal sensory seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:29:52Z [Term] id: HP:0011164 name: obsolete Vegetative auras property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0011154 creation_date: 2011-10-18T02:30:10Z [Term] id: HP:0011165 name: Focal sensory seizure with visual features alt_id: HP:0007175 alt_id: HP:0025121 def: "A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation." [HPO_CONTRIBUTOR:jalbers] comment: More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. synonym: "Focal visual seizure" EXACT [] synonym: "Partial visual seizure" EXACT [] synonym: "Simple partial occipital seizures" RELATED [] synonym: "Visual aura" EXACT [] synonym: "Visual auras" EXACT plural_form [] xref: UMLS:C1850765 is_a: HP:0011157 ! Focal sensory seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:31:15Z [Term] id: HP:0011166 name: Focal myoclonic seizure alt_id: HP:0025191 def: "A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [PMID:11580774, PMID:28276060, PMID:28276064] synonym: "Focal myoclonic seizures" EXACT plural_form [] synonym: "Local myoclonic seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849] synonym: "Localised myoclonic seizure" EXACT [] synonym: "Localized myoclonic seizure" EXACT [] synonym: "Partial myoclonic seizure" EXACT [] synonym: "Partial myoclonic seizures" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Segmental myoclonic seizure" EXACT [] synonym: "Segmental myoclonic seizures" EXACT plural_form [] xref: UMLS:C4023501 is_a: HP:0011153 ! Focal motor seizure is_a: HP:0032794 ! Myoclonic seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:34:14Z [Term] id: HP:0011167 name: Focal tonic seizure def: "A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes." [HPO_CONTRIBUTOR:jalbers, PMID:11580774, PMID:28276060, PMID:28276064] comment: The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal dystonic seizure. synonym: "Focal tonic seizures" EXACT plural_form [] synonym: "Local tonic seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849] synonym: "Localised tonic seizure" EXACT [] synonym: "Localized tonic seizure" EXACT [] synonym: "Partial tonic seizure" EXACT [] synonym: "Partial tonic seizures" EXACT plural_form [https://orcid.org/0000-0001-6908-9849] synonym: "Segmental tonic seizure" EXACT [] xref: UMLS:C0752324 is_a: HP:0011153 ! Focal motor seizure is_a: HP:0032792 ! Tonic seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:35:03Z [Term] id: HP:0011168 name: Focal seizure with eyelid myoclonia def: "Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures." [https://orcid.org/0000-0001-8486-0558] synonym: "Eyelid myoclonias" EXACT [] xref: UMLS:C4023500 is_a: HP:0011166 ! Focal myoclonic seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-10-18T02:39:07Z [Term] id: HP:0011169 name: Generalized clonic seizure def: "Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] comment: Generalized clonic seizures are much less common than are tonic-clonic seizures, usually occur in infants, and should be distinguished from jitteriness or shuddering attacks. synonym: "Generalised clonic seizure" EXACT [] synonym: "Generalised clonic seizures" EXACT uk_spelling [] synonym: "Generalised onset clonic seizure" EXACT [] synonym: "Generalised-onset clonic seizure" EXACT [] synonym: "Generalized clonic seizures" EXACT plural_form [] synonym: "Generalized onset clonic seizure" EXACT [] synonym: "Generalized-onset clonic seizure" EXACT [] xref: UMLS:C4023499 is_a: HP:0020221 ! Clonic seizure is_a: HP:0032677 ! Generalized-onset motor seizure property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T09:53:43Z [Term] id: HP:0011170 name: Generalized myoclonic-atonic seizure def: "A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] comment: A myoclonic-tonic seizure was previously called a myoclonic-astatic seizure. ILAE2017 does not currently consider myoclonic-atonic seizures to be a form of myoclonic seizure which is why it is classified as a motor seizure. synonym: "Generalised myoclonic-atonic seizure" EXACT [] synonym: "Myoclonic atonic seizures" EXACT plural_form [] synonym: "Myoclonic-astatic seizure" EXACT [] xref: SNOMEDCT_US:230421008 xref: UMLS:C0393702 is_a: HP:0032677 ! Generalized-onset motor seizure property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:00:46Z [Term] id: HP:0011171 name: Simple febrile seizure def: "A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance." [HPO_CONTRIBUTOR:jalbers, PMID:19125841, PMID:6779259, PMID:972656] comment: Fever may not be detected before the seizure, but it must be present at least in the immediate postacute period. In most cases these seizures are of a generalized tonic-clonic semiology. synonym: "Simple febrile convulsion" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, https://orcid.org/0000-0001-5208-3432] synonym: "Simple febrile seizures" EXACT plural_form [] synonym: "Simple fever fit" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:432354000 xref: UMLS:C0149886 is_a: HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years) property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:09:04Z [Term] id: HP:0011172 name: Complex febrile seizure def: "A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period." [HPO_CONTRIBUTOR:jalbers, PMID:19125841, PMID:972656] comment: Children presenting with a prolonged seizure stopped with anticonvulsive therapy (i.e., diazepam) before the 15th minute should be classified within this group. synonym: "Complex febrile convulsion" EXACT [] synonym: "Complex febrile seizures" EXACT plural_form [] synonym: "Complex fever fit" EXACT [] xref: SNOMEDCT_US:433083002 xref: UMLS:C0751057 is_a: HP:0002373 ! Febrile seizure (within the age range of 3 months to 6 years) property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:10:00Z [Term] id: HP:0011173 name: Focal behavior arrest seizure def: "A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure." [HPO_CONTRIBUTOR:jalbers, PMID:28276060] comment: The word 'focal' is explicit in the term title to emphasize the difference between these seizures and absence (generalized non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature. synonym: "Focal behaviour arrest seizure" EXACT uk_spelling [] synonym: "Focal hypokinetic seizure" EXACT [] synonym: "Hypokinetic seizure" EXACT [] synonym: "Hypokinetic seizures" EXACT plural_form [] synonym: "Localised seizure with behavioral arrest" EXACT [] synonym: "Localised seizure with behavioural arrest" EXACT uk_spelling [] synonym: "Localized seizure with behavioral arrest" EXACT [] synonym: "Partial hypokinetic seizure" EXACT [] synonym: "Partial seizure with behavior arrest" EXACT [] synonym: "Partial seizure with behaviour arrest" EXACT uk_spelling [] xref: UMLS:C4023498 is_a: HP:0032679 ! Focal non-motor seizure property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:12:04Z [Term] id: HP:0011174 name: Focal hyperkinetic seizure def: "A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements." [HPO_CONTRIBUTOR:jalbers, PMID:11580774, PMID:28276060, PMID:28276064] comment: The 2017 ILAE classification arbitrarily groups pedaling activity with hyperkinetic seizures, rather than with automatism seizures. However, some automatisms overlap other motor behaviors and where pedaling is slow and coordinated it may be considered an automatism. synonym: "Hyperkinetic seizures" EXACT plural_form [] synonym: "Localised hyperkinetic seizure" EXACT [] synonym: "Localized hyperkinetic seizure" EXACT [] synonym: "Partial hyperkinetic seizure" EXACT [] synonym: "Segmental hyperkinetic seizure" EXACT [] xref: UMLS:C4023497 is_a: HP:0011153 ! Focal motor seizure property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:13:17Z [Term] id: HP:0011175 name: Focal motor seizure with version def: "A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation." [HPO_CONTRIBUTOR:jalbers] synonym: "Versive seizure" EXACT [] synonym: "Versive seizures" EXACT plural_form [] xref: SNOMEDCT_US:246530009 xref: UMLS:C0422846 is_a: HP:0011153 ! Focal motor seizure property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:14:54Z [Term] id: HP:0011176 name: EEG with constitutional variants def: "An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023496 is_a: HP:0002353 ! EEG abnormality property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:18:43Z [Term] id: HP:0011177 name: EEG with 4-5/second background activity def: "EEG background activity at 4-5/second." [HPO_CONTRIBUTOR:jalbers] comment: EEG background activity at 4-5/second is rare and unusual but not generally pathologic. xref: UMLS:C4023495 is_a: HP:0011176 ! EEG with constitutional variants property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:20:59Z [Term] id: HP:0011178 name: Alpha-EEG def: "EEG dominated by diffuse alpha-waves (8-13Hz)." [HPO_CONTRIBUTOR:jalbers] comment: Alpha-EEG is a rare finding but not generally pathologic. xref: UMLS:C4023494 is_a: HP:0011176 ! EEG with constitutional variants property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:23:53Z [Term] id: HP:0011179 name: Beta-EEG def: "EEG dominated by diffuse beta-waves (>13 Hz)." [HPO_CONTRIBUTOR:jalbers] comment: Beta-EEG is a rare finding but not generally pathologic. synonym: "Beta wave electroencephalography" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4023493 is_a: HP:0011176 ! EEG with constitutional variants is_a: HP:0011202 ! EEG with diffuse acceleration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:25:00Z [Term] id: HP:0011180 name: Partial beta-EEG def: "EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz)." [HPO_CONTRIBUTOR:jalbers] comment: A partial beta-EEG is a rare finding but not generally pathologic. xref: UMLS:C4023492 is_a: HP:0011179 ! Beta-EEG property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:25:50Z [Term] id: HP:0011181 name: Low voltage EEG def: "EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz)." [HPO_CONTRIBUTOR:jalbers] comment: A low voltage EEG is a rare finding but not generally pathologic. xref: UMLS:C1851759 is_a: HP:0011176 ! EEG with constitutional variants property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:27:20Z [Term] id: HP:0011182 name: Interictal epileptiform activity def: "Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure." [https://orcid.org/0000-0002-0736-9199] comment: Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm. synonym: "Epileptiform EEG discharges" EXACT [] xref: UMLS:C4023491 is_a: HP:0025373 ! Interictal EEG abnormality property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:32:25Z [Term] id: HP:0011183 name: EEG with hyperventilation-induced focal epileptiform discharges def: "Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023490 is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:36:34Z [Term] id: HP:0011184 name: EEG with hyperventilation-induced generalized epileptiform discharges def: "Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with hyperventilation-induced generalised epileptiform discharges" EXACT uk_spelling [] xref: UMLS:C4023489 is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:37:49Z [Term] id: HP:0011185 name: EEG with focal epileptiform discharges alt_id: HP:0010840 def: "EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO_CONTRIBUTOR:jalbers] comment: Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing). synonym: "Focal EEG Abnormality" EXACT [] xref: UMLS:C4021199 is_a: HP:0011182 ! Interictal epileptiform activity property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:39:02Z [Term] id: HP:0011186 name: Focal epileptiform discharges with limited propagation to contralateral hemisphere def: "Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023488 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:40:22Z [Term] id: HP:0011187 name: Focal EEG discharges with propagation to ipsilateral hemisphere def: "Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023487 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:43:06Z [Term] id: HP:0011188 name: Focal EEG discharges with secondary generalization def: "Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp." [HPO_CONTRIBUTOR:jalbers] synonym: "Focal EEG discharges with secondary generalisation" EXACT uk_spelling [] xref: UMLS:C4023486 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:44:33Z [Term] id: HP:0011189 name: Bilateral multifocal epileptiform discharges def: "Epileptiform discharges being identified at multiple locations in both hemispheres." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023485 is_a: HP:0010841 ! Multifocal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:47:23Z [Term] id: HP:0011190 name: Uni- and bilateral multifocal epileptiform discharges def: "Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023484 is_a: HP:0010841 ! Multifocal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:48:14Z [Term] id: HP:0011191 name: Unilateral multifocal epileptiform discharges def: "Epileptiform discharges being identified at multiple locations in one hemisphere." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023483 is_a: HP:0010841 ! Multifocal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:48:51Z [Term] id: HP:0011192 name: Polymorphic focal epileptiform discharges def: "Focal epileptiform discharges of different shapes and frequencies." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023482 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:49:45Z [Term] id: HP:0011193 name: EEG with focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023481 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:50:36Z [Term] id: HP:0011194 name: EEG with series of focal spikes def: "Focal spikes occurring for several seconds." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023480 is_a: HP:0011193 ! EEG with focal spikes property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T10:51:41Z [Term] id: HP:0011195 name: EEG with focal sharp slow waves def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023479 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:02:29Z [Term] id: HP:0011196 name: EEG with focal sharp waves def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023478 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:11:50Z [Term] id: HP:0011197 name: EEG with focal spike waves def: "EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023477 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:12:45Z [Term] id: HP:0011198 name: EEG with generalized epileptiform discharges alt_id: HP:0010842 def: "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy." [HPO_CONTRIBUTOR:jalbers] comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. synonym: "EEG with generalised epileptiform discharges" EXACT uk_spelling [] xref: UMLS:C4023476 is_a: HP:0011182 ! Interictal epileptiform activity property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:15:46Z [Term] id: HP:0011199 name: EEG with generalized sharp slow waves def: "EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with generalised sharp slow waves" EXACT uk_spelling [] xref: UMLS:C4023475 is_a: HP:0011198 ! EEG with generalized epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:17:38Z [Term] id: HP:0011200 name: EEG with generalized polymorphic epileptiform discharges def: "Generalized epileptiform discharges of different shapes and frequencies." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with generalised polymorphic epileptiform discharges" EXACT uk_spelling [] xref: UMLS:C4023474 is_a: HP:0011198 ! EEG with generalized epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:19:04Z [Term] id: HP:0011201 name: EEG with changes in voltage def: "EEG with abnormal amplitude." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023473 is_a: HP:0002353 ! EEG abnormality property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:20:13Z [Term] id: HP:0011202 name: EEG with diffuse acceleration def: "EEG frequency is abnormally increased." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023472 is_a: HP:0002353 ! EEG abnormality property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:23:55Z [Term] id: HP:0011203 name: EEG with abnormally slow frequencies def: "EEG with abnormally slow frequencies." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023471 is_a: HP:0002353 ! EEG abnormality property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:26:47Z [Term] id: HP:0011204 name: EEG with continuous slow activity def: "EEG showing diffuse slowing without interruption." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023470 is_a: HP:0010845 ! EEG with generalized slow activity property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:28:47Z [Term] id: HP:0011205 name: EEG with intermittent slow activity def: "Non-continuous diffuse slowing of electroencephalographic patterns." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023469 is_a: HP:0010845 ! EEG with generalized slow activity property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:30:20Z [Term] id: HP:0011206 name: EEG with generalized slow activity grade 1 def: "Slowing at frequencies between 7.5 and 8.5 Hz." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with generalised slow activity grade 1" EXACT uk_spelling [] xref: UMLS:C4023468 is_a: HP:0010845 ! EEG with generalized slow activity property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2011-11-19T11:31:28Z [Term] id: HP:0011207 name: EEG with generalized slow activity grade 2 def: "Generalized slowing of EEG activity at frequencies between 4-7 Hz." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with generalised slow activity grade 2" EXACT uk_spelling [] xref: UMLS:C4023467 is_a: HP:0010845 ! EEG with generalized slow activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-19T12:42:03Z [Term] id: HP:0011208 name: EEG with generalized slow activity grade 3 def: "Generalized slowing of EEG activity at frequencies between 0.5-3 Hz." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with generalised slow activity grade 3" EXACT uk_spelling [] xref: UMLS:C4023466 is_a: HP:0010845 ! EEG with generalized slow activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-19T12:44:11Z [Term] id: HP:0011209 name: EEG with generalized slow activity grade 4 def: "EEG without electrical activity." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with generalised slow activity grade 4" EXACT uk_spelling [] synonym: "Flat line EEG" EXACT [] xref: UMLS:C4021198 is_a: HP:0010845 ! EEG with generalized slow activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-19T12:46:05Z [Term] id: HP:0011210 name: EEG with occipital slowing def: "Slowing in occipital areas of the scalp EEG." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023465 is_a: HP:0010843 ! EEG with focal slow activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-19T12:55:32Z [Term] id: HP:0011211 name: EEG with photoparoxysmal response grade I def: "Occurrence of epileptiform discharges in occipital regions during photic stimulation." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023464 is_a: HP:0010852 ! EEG with photoparoxysmal response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-19T12:59:07Z [Term] id: HP:0011212 name: EEG with photoparoxysmal response grade II def: "Occurrence of epileptiform discharges in occipital and central regions during photic stimulation." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023463 is_a: HP:0010852 ! EEG with photoparoxysmal response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-19T12:59:32Z [Term] id: HP:0011213 name: EEG with photoparoxysmal response grade III def: "Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023462 is_a: HP:0010852 ! EEG with photoparoxysmal response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-19T12:59:57Z [Term] id: HP:0011214 name: EEG with photoparoxysmal response grade IV def: "Occurrence of generalized epileptiform discharges during photic stimulation." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023461 is_a: HP:0010852 ! EEG with photoparoxysmal response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-19T01:01:38Z [Term] id: HP:0011215 name: Hemihypsarrhythmia def: "Hypsarrhythmia occurring in one hemisphere." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023460 is_a: HP:0011185 ! EEG with focal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-11-29T07:42:18Z [Term] id: HP:0011217 name: Abnormal shape of the occiput def: "An abnormal shape of occiput." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal shape of posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal shape of posterior skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal shape of the back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal shape of the back of the skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023459 is_a: HP:0012294 ! Abnormal occipital bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-03T10:14:06Z [Term] id: HP:0011218 name: Abnormal shape of the frontal region def: "An abnormal shape of the frontal part of the head." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal morphology of the frontal region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal shape of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dysmorphic forehead" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dysmorphic frontal region" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023458 is_a: HP:0430000 ! Abnormal frontal bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-03T10:26:03Z [Term] id: HP:0011219 name: Short face def: "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)." [PMID:19125436] comment: Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face. subset: hposlim_core synonym: "Decreased height of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased vertical dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short face" EXACT layperson [] synonym: "Short facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical deficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical Facial Deficiency" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical facial insufficiency" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical insufficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical shortening of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023457 is_a: HP:0000274 ! Small face property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-07T09:01:18Z [Term] id: HP:0011220 name: Prominent forehead alt_id: HP:0200061 def: "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [PMID:19125436] comment: Not to be confused with frontal bossing. subset: hposlim_core synonym: "Bulging forehead" RELATED layperson [] synonym: "Prominence of frontal region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent forehead" EXACT layperson [] synonym: "Pronounced forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding forehead" EXACT layperson [] xref: UMLS:C1837260 xref: UMLS:C1867446 is_a: HP:0000290 ! Abnormal forehead morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-07T09:49:36Z [Term] id: HP:0011221 name: Vertical forehead creases def: "Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest." [PMID:19125436] subset: hposlim_core synonym: "Frontal creases of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical forehead creases" EXACT layperson [] synonym: "Vertical forehead rhytids" EXACT [] synonym: "Vertical forehead wrinkles" EXACT layperson [] xref: UMLS:C4023456 is_a: HP:0000290 ! Abnormal forehead morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-07T09:55:15Z [Term] id: HP:0011222 name: Depressed glabella def: "Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. synonym: "Concave glabella" EXACT [] synonym: "Deficiency of glabella" EXACT [] synonym: "Deficient area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat glabella" EXACT [] synonym: "Hypoplasia of glabella" EXACT [] xref: UMLS:C4023455 is_a: HP:0002056 ! Abnormality of the glabella property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-07T10:03:30Z [Term] id: HP:0011223 name: Metopic depression def: "Linear vertical groove in the midline of the forehead, extending from hairline to glabella." [PMID:19125436] subset: hposlim_core synonym: "Depression of frontal cranial suture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depression of metopic cranial suture" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Frontal suture depression" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023454 is_a: HP:0005556 ! Abnormality of the metopic suture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-07T10:34:38Z [Term] id: HP:0011224 name: Ablepharon alt_id: HP:0009925 def: "Absent eyelids." [PMID:19125427] comment: In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful. subset: hposlim_core synonym: "Ablepharon of eyelid" EXACT [] synonym: "Absent eyelids" EXACT layperson [] synonym: "Agenesis of eyelids" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of the eyelids" RELATED [] synonym: "Missing eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:13401001 xref: SNOMEDCT_US:708541009 xref: UMLS:C0266574 xref: UMLS:C4020757 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-13T07:58:12Z [Term] id: HP:0011225 name: Epiblepharon def: "Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva." [PMID:19125427] comment: Epiblepharon should be distinguished from entropion. subset: hposlim_core xref: SNOMEDCT_US:253212001 xref: UMLS:C0344503 is_a: HP:0000492 ! Abnormal eyelid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-13T08:28:48Z [Term] id: HP:0011226 name: Aplasia/Hypoplasia of the eyelid def: "Absence or underdevelopment of the eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Failure of development of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023453 is_a: HP:0000492 ! Abnormal eyelid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-13T08:38:23Z [Term] id: HP:0011227 name: Elevated circulating C-reactive protein concentration def: "An abnormal elevation of the C-reactive protein level in the blood circulation." [https://orcid.org/0000-0002-0736-9199, PMID:28722873] comment: C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. synonym: "Elevated C-reactive protein level" EXACT [] synonym: "Elevated CRP" RELATED [] xref: UMLS:C0742906 xref: UMLS:C4023452 is_a: HP:0032436 ! Abnormal circulating C-reactive protein concentration is_a: HP:0033331 ! Acute phase response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-13T11:04:10Z [Term] id: HP:0011228 name: Horizontal eyebrow def: "An eyebrow that extends straight across the brow, without curve." [PMID:19125427] subset: hposlim_core synonym: "Flat eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal eyebrow" EXACT layperson [] synonym: "Lack of eyebrow arch" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lack of eyebrow curvature" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Straight eyebrow" EXACT layperson [] synonym: "Straight eyebrows" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3277019 is_a: HP:0000534 ! Abnormal eyebrow morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-14T08:18:29Z [Term] id: HP:0011229 name: Broad eyebrow def: "Regional increase in the width (height) of the eyebrow." [PMID:19125427] comment: Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs. subset: hposlim_core synonym: "Broad eyebrow" EXACT layperson [] synonym: "Broad eyebrows" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Flared eyebrow" EXACT layperson [] synonym: "Flared eyebrows" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Increased vertical height of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical thickness of eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical width of eyebrow" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856121 is_a: HP:0000534 ! Abnormal eyebrow morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-14T08:21:26Z [Term] id: HP:0011230 name: Laterally extended eyebrow def: "An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location." [PMID:19125427] comment: The degree of extension beyond the obital rim that is considered abnormal has not been established. synonym: "Increased lateral length of eyebrow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Laterally elongated eyebrow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Laterally extended eyebrows" EXACT plural_form [] xref: UMLS:C4023451 is_a: HP:0000534 ! Abnormal eyebrow morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-14T08:27:22Z [Term] id: HP:0011231 name: Prominent eyelashes def: "Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly." [PMID:19125427] synonym: "Prominent eyelashes" EXACT layperson [] synonym: "Thick eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1835802 xref: UMLS:C4023450 is_a: HP:0000499 ! Abnormal eyelash morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-14T08:31:24Z [Term] id: HP:0011232 name: Infra-orbital fold def: "Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge." [PMID:19125427] comment: This term excludes epicanthus inversus. subset: hposlim_core synonym: "Dennie-Morgan fold" RELATED [] synonym: "Infraorbital fold" EXACT [] xref: UMLS:C4023449 is_a: HP:0000606 ! Abnormality of the periorbital region property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-14T07:00:48Z [Term] id: HP:0011233 name: Antihelical shelf def: "Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha." [PMID:19152421] comment: In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix. synonym: "Conchal shelf" EXACT [] xref: UMLS:C4021197 is_a: HP:0009738 ! Abnormal antihelix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-15T07:03:37Z [Term] id: HP:0011234 name: Absent antihelix def: "No discernible ridge between concha and triangular fossa and helix." [] comment: This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix. xref: UMLS:C4023448 is_a: HP:0009738 ! Abnormal antihelix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-15T07:09:03Z [Term] id: HP:0011235 name: Additional crus of antihelix def: "Supernumerary ridge or crus of the ear arising from the antihelix." [PMID:19152421] comment: The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear. xref: UMLS:C4023447 is_a: HP:0009738 ! Abnormal antihelix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-15T07:16:54Z [Term] id: HP:0011236 name: Angulated antihelix def: "Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc." [PMID:19152421] xref: UMLS:C4023446 is_a: HP:0009738 ! Abnormal antihelix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T10:42:17Z [Term] id: HP:0011237 name: Broad inferior crus of antihelix def: "Increased width of the inferred cross-section of the inferior crus." [PMID:19152421] comment: This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile. synonym: "Antihelix, inferior crus, broad" EXACT [] xref: UMLS:C4021196 is_a: HP:0011243 ! Abnormality of inferior crus of antihelix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T10:46:34Z [Term] id: HP:0011238 name: Prominent inferior crus of antihelix def: "Increased protrusion of the inferior crus relative to the prominence of the antihelix stem." [] synonym: "Antihelix, inferior crus, prominent" EXACT [] synonym: "Hyperplastic inferior crus of antihelix" EXACT [] synonym: "Hypertrophic inferior crus of antihelix" EXACT [] xref: UMLS:C4021195 is_a: HP:0011243 ! Abnormality of inferior crus of antihelix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T11:24:43Z [Term] id: HP:0011239 name: Underdeveloped inferior crus of antihelix def: "Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem." [PMID:19152421] comment: This finding is highly variable. synonym: "Antihelix, inferior crus, underdeveloped" EXACT [] synonym: "Hypoplastic inferior crus of antihelix" EXACT [] synonym: "Hypotrophic inferior crus of antihelix" EXACT [] xref: UMLS:C4021194 is_a: HP:0011243 ! Abnormality of inferior crus of antihelix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T11:27:15Z [Term] id: HP:0011240 name: Prominent stem of antihelix def: "Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix." [PMID:19152421] comment: This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear. synonym: "Hyperplastic antihelix stem" EXACT [] synonym: "Hypertrophic antihelix stem" EXACT [] xref: UMLS:C4020910 is_a: HP:0011244 ! Abnormality of stem of antihelix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T11:32:08Z [Term] id: HP:0011241 name: Serpiginous stem of antihelix def: "Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha." [PMID:19152421] synonym: "Antihelix, stem, serpiginous" EXACT [] xref: UMLS:C4021193 is_a: HP:0011244 ! Abnormality of stem of antihelix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T11:35:53Z [Term] id: HP:0011242 name: Underdeveloped stem of antihelix def: "Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix." [PMID:19152421] comment: The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear. synonym: "Antihelix, stem, underdeveloped" EXACT [] xref: UMLS:C4021192 is_a: HP:0011244 ! Abnormality of stem of antihelix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T11:38:15Z [Term] id: HP:0011243 name: Abnormality of inferior crus of antihelix def: "An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. synonym: "Abnormality of anterior crus of antihelix" EXACT [] xref: UMLS:C4021191 is_a: HP:0009738 ! Abnormal antihelix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T11:41:44Z [Term] id: HP:0011244 name: Abnormality of stem of antihelix def: "An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023445 is_a: HP:0009738 ! Abnormal antihelix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T11:50:01Z [Term] id: HP:0011245 name: Abnormality of superior crus of antihelix def: "An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. synonym: "Abnormality of posterior crus of antihelix" EXACT [] xref: UMLS:C4021190 is_a: HP:0009738 ! Abnormal antihelix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T11:52:06Z [Term] id: HP:0011246 name: Underdeveloped superior crus of antihelix def: "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [PMID:19152421] comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. synonym: "Hypoplastic superior crus of antihelix" EXACT [] synonym: "Hypotrophic superior crus of antihelix" EXACT [] xref: UMLS:C4021189 is_a: HP:0011245 ! Abnormality of superior crus of antihelix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T12:00:18Z [Term] id: HP:0011247 name: Prominent superior crus of antihelix def: "Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [PMID:19152421] comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. synonym: "Hyperplastic superior crus of antihelix" EXACT [] synonym: "Hypertrophic superior crus of antihelix" EXACT [] xref: UMLS:C4021188 is_a: HP:0011245 ! Abnormality of superior crus of antihelix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T12:02:57Z [Term] id: HP:0011248 name: Everted antitragus def: "Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear)." [PMID:19152421] xref: UMLS:C4023444 is_a: HP:0009896 ! Abnormal antitragus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T12:11:37Z [Term] id: HP:0011249 name: Absent antitragus def: "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [PMID:19152421] comment: The size of the antitragus is highly variable. xref: UMLS:C4023443 is_a: HP:0009896 ! Abnormal antitragus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T12:13:00Z [Term] id: HP:0011250 name: Bifid antitragus def: "Double rather than single peak of the antitragus." [PMID:19152421] synonym: "Double antitragus" EXACT [] xref: UMLS:C4021187 is_a: HP:0009896 ! Abnormal antitragus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T12:14:26Z [Term] id: HP:0011251 name: Underdeveloped antitragus def: "Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] synonym: "Hypoplastic antitragus" EXACT [] synonym: "Hypotrophic antitragus" EXACT [] synonym: "Small antitragus" EXACT [] xref: UMLS:C4021186 is_a: HP:0009896 ! Abnormal antitragus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T01:59:04Z [Term] id: HP:0011252 name: Cryptotia def: "Invagination of the superior part of the auricle under a fold of temporal skin." [PMID:19152421] comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected. subset: hposlim_core synonym: "Buried ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hidden ear" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:429967001 xref: UMLS:C2315717 is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T02:12:10Z [Term] id: HP:0011253 name: Type I cryptotia def: "A type of cryptotia associated with reduction in size of the antihelix and superior crus." [https://orcid.org/0000-0002-0736-9199] synonym: "Type 1 cryptotia" EXACT [] xref: UMLS:C4023442 is_a: HP:0011252 ! Cryptotia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T02:14:49Z [Term] id: HP:0011254 name: Type II cryptotia def: "A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected." [https://orcid.org/0000-0002-0736-9199] synonym: "Type 2 cryptotia" EXACT [] xref: UMLS:C4023441 is_a: HP:0011252 ! Cryptotia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T02:15:48Z [Term] id: HP:0011255 name: Absent crus of helix def: "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha." [PMID:19152421] synonym: "Helix, crus, absent" EXACT [] xref: UMLS:C4021185 is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T05:50:59Z [Term] id: HP:0011256 name: Crus of helix connected to antihelix def: "Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix." [PMID:19152421] synonym: "Helix, crus, connected to antihelix" EXACT [] xref: UMLS:C4021184 is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T05:51:54Z [Term] id: HP:0011257 name: Serpiginous crus of helix def: "Curving course of the crus of the helix, approaching or joining the antitragus." [PMID:19152421] synonym: "Helix, crus, serpiginous" EXACT [] xref: UMLS:C4021183 is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T05:56:25Z [Term] id: HP:0011258 name: Tragal bridge of crus of helix def: "The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix." [PMID:19152421] synonym: "Helix, crus, tragal bridge" EXACT [] xref: UMLS:C4021182 is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T05:58:24Z [Term] id: HP:0011259 name: Expanded terminal portion of crus of helix def: "Widening, rather than tapering, of the crus at its posterior border near the antihelix." [PMID:19152421] synonym: "Helix, crus, expanded terminal portion" EXACT [] xref: UMLS:C4021181 is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T06:00:07Z [Term] id: HP:0011260 name: Darwin notch of helix def: "Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix." [PMID:19152421] synonym: "Helix, Darwin notch" EXACT [] xref: UMLS:C4021180 is_a: HP:0009902 ! Cleft helix property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T06:01:45Z [Term] id: HP:0011261 name: Darwin tubercle of helix def: "Small expansion of the helical fold at the junction of the superior and descending portions of the helix." [PMID:19152421] synonym: "Helix, Darwin tubercle" EXACT [] xref: UMLS:C4021179 is_a: HP:0011039 ! Abnormal helix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T06:02:42Z [Term] id: HP:0011262 name: Crimped helix def: "Linear, circumferential indentation in the convexity of the outer surface of the helix." [PMID:19152421] comment: The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix. synonym: "Helix, crimped" EXACT [] synonym: "Indented helix" EXACT [] xref: UMLS:C4021178 is_a: HP:0011039 ! Abnormal helix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T06:19:33Z [Term] id: HP:0011263 name: Forward facing earlobe def: "Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe. synonym: "Forward facing earlobe" EXACT layperson [] synonym: "Lobe, forward facing" EXACT layperson [] xref: UMLS:C4021177 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T06:50:34Z [Term] id: HP:0011264 name: Discontinuous ascending root of helix def: "Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid." [PMID:19152421] synonym: "Helix, discontinuous ascending root" EXACT [] xref: UMLS:C4021176 is_a: HP:0011039 ! Abnormal helix morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T07:31:00Z [Term] id: HP:0011265 name: Cleft earlobe def: "Discontinuity in the convexity of the inferior margin of the lobe." [PMID:19152421] comment: The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished. subset: hposlim_core synonym: "Bifid earlobe" EXACT [] synonym: "Bifid lobe" EXACT [] synonym: "Cleft earlobe" EXACT layperson [] synonym: "Notched earlobe" EXACT [] synonym: "Notched lobe" EXACT [] xref: UMLS:C4023440 is_a: HP:0000363 ! Abnormal earlobe morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T07:39:52Z [Term] id: HP:0011266 name: Microtia, first degree alt_id: HP:0000379 def: "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean." [PMID:19152421] synonym: "First-degree microtia" EXACT [] xref: UMLS:C4021175 is_a: HP:0008551 ! Microtia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T07:44:51Z [Term] id: HP:0011267 name: Microtia, third degree def: "Presence of some auricular structures, but none of these structures conform to recognized ear components." [PMID:19152421] comment: This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia. synonym: "Abnormal shape/structure of ear" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Third-degree microtia" EXACT [] xref: UMLS:C4021174 xref: UMLS:C4280331 is_a: HP:0008551 ! Microtia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T07:49:49Z [Term] id: HP:0011268 name: Absent tragus def: "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix." [PMID:19152421] comment: This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately. subset: hposlim_core xref: UMLS:C4023439 is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T07:55:39Z [Term] id: HP:0011269 name: Bifid tragus def: "Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak." [PMID:19152421] synonym: "Notched tragus" EXACT layperson [] synonym: "Tragus, bifid" EXACT [] xref: UMLS:C4021173 is_a: HP:0009912 ! Abnormal tragus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T07:56:56Z [Term] id: HP:0011270 name: Duplicated tragus def: "A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus." [PMID:19152421] comment: It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin. synonym: "Accessory tragus" EXACT [] synonym: "Tragus, duplicated" EXACT [] xref: UMLS:C4021172 is_a: HP:0009912 ! Abnormal tragus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T07:58:04Z [Term] id: HP:0011271 name: Prominent tragus def: "Increase posterolateral protrusion of the tragus." [PMID:19152421] subset: hposlim_core synonym: "Enlarged tragus" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Hyperplastic tragus" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Hypertrophic tragus" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Large tragus" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Tragus, prominent" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4021171 is_a: HP:0009912 ! Abnormal tragus morphology creation_date: 2011-12-18T07:59:22Z [Term] id: HP:0011272 name: Underdeveloped tragus def: "Decreased posterolateral protrusion of the tragus." [PMID:19152421] synonym: "Hypoplastic tragus" EXACT [] synonym: "Hypotrophic tragus" EXACT [] synonym: "Small tragus" EXACT [] xref: UMLS:C4013429 is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-18T08:01:33Z [Term] id: HP:0011273 name: Anisocytosis def: "Abnormally increased variability in the size of erythrocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Unequal size of red blood cells" EXACT layperson [https://en.wikipedia.org/wiki/anisocytosis, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:165475005 xref: SNOMEDCT_US:57241006 xref: UMLS:C0221278 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-28T11:58:24Z [Term] id: HP:0011274 name: Recurrent mycobacterial infections def: "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [https://orcid.org/0000-0002-0736-9199] comment: Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics. xref: UMLS:C4023438 is_a: HP:0002718 ! Recurrent bacterial infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-28T12:11:54Z [Term] id: HP:0011275 name: Recurrent mycobacterium avium complex infections def: "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection." [https://orcid.org/0000-0002-0736-9199] comment: Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection. xref: UMLS:C1737260 is_a: HP:0011274 ! Recurrent mycobacterial infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-28T12:16:46Z [Term] id: HP:0011276 name: Vascular skin abnormality synonym: "Skin vascular malformation" EXACT [] synonym: "Vascular abnormalities restricted to skin" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:11263005 xref: UMLS:C0162819 xref: UMLS:C1842892 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011354 ! Generalized abnormality of skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-29T08:52:53Z [Term] id: HP:0011277 name: Abnormality of the urinary system physiology xref: UMLS:C4023437 is_a: HP:0000079 ! Abnormality of the urinary system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-30T02:51:16Z [Term] id: HP:0011278 name: Intrapulmonary lobar sequestration alt_id: HP:0010961 def: "A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree." [https://orcid.org/0000-0002-0736-9199, PMID:20610189] comment: Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung. synonym: "Intralobar sequestration" EXACT [] synonym: "Intrapulmonary sequestration" EXACT [] xref: UMLS:C4023436 is_a: HP:0100632 ! Pulmonary sequestration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-31T07:43:28Z [Term] id: HP:0011279 name: Abnormality of urine bicarbonate level def: "An abnormal amount of hydrogencarbonate in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of urine HCO3 concentration" EXACT abbreviation [] xref: UMLS:C4023435 is_a: HP:6000531 ! Abnormal urinary organic compound level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-30T02:57:55Z [Term] id: HP:0011280 name: Abnormality of urine calcium concentration def: "An abnormality of calcium concentration in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of urine Ca concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormality of urine Ca2+ concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4023434 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-30T03:27:02Z [Term] id: HP:0011281 name: Abnormality of urine catecholamine level def: "An abnormal amount of urinary catecholamine concentration." [https://orcid.org/0000-0002-0736-9199] comment: Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine. xref: MP:0011478 xref: UMLS:C4023433 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2011-12-30T03:35:18Z [Term] id: HP:0011282 name: Abnormal hindbrain morphology def: "An abnormality of the hindbrain, also known as the rhombencephalon." [https://orcid.org/0000-0002-0736-9199] comment: The hindbrain consists of two main structures: The pons and the cerebellum. synonym: "Abnormal shape of hindbrain" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of hindbrain morphology" EXACT [] synonym: "Abnormality of the hindbrain" EXACT [] xref: UMLS:C4021170 is_a: HP:0012443 ! Abnormal brain morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-01-01T01:22:36Z [Term] id: HP:0011283 name: Abnormal metencephalon morphology def: "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the metencephalon" EXACT [] xref: UMLS:C4023432 is_a: HP:0011282 ! Abnormal hindbrain morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-01-01T01:24:14Z [Term] id: HP:0011284 name: Short-segment aganglionic megacolon def: "A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid." [https://orcid.org/0000-0002-0736-9199, PMID:17965226] xref: UMLS:C4023431 is_a: HP:0002251 ! Aganglionic megacolon property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-01-01T02:59:57Z [Term] id: HP:0011285 name: Long-segment aganglionic megacolon def: "A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023430 is_a: HP:0002251 ! Aganglionic megacolon property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-01-01T03:02:49Z [Term] id: HP:0011286 name: Total colonic aganglionosis def: "A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:253780003 xref: SNOMEDCT_US:360441005 xref: UMLS:C0085758 is_a: HP:0002251 ! Aganglionic megacolon property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-01-01T03:03:46Z [Term] id: HP:0011287 name: EEG with occipital sharp slow waves def: "EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023429 is_a: HP:0011195 ! EEG with focal sharp slow waves is_a: HP:0033720 ! EEG with occipital epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:28:45Z [Term] id: HP:0011288 name: EEG with parietal sharp slow waves def: "EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023428 is_a: HP:0011195 ! EEG with focal sharp slow waves is_a: HP:0033719 ! EEG with parietal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:29:59Z [Term] id: HP:0011289 name: EEG with temporal sharp slow waves def: "EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023427 is_a: HP:0011195 ! EEG with focal sharp slow waves is_a: HP:0033717 ! EEG with temporal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:30:25Z [Term] id: HP:0011290 name: EEG with frontal sharp slow waves def: "EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023426 is_a: HP:0011195 ! EEG with focal sharp slow waves is_a: HP:0033716 ! EEG with frontal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:30:41Z [Term] id: HP:0011291 name: EEG with central sharp slow waves def: "EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023425 is_a: HP:0011195 ! EEG with focal sharp slow waves is_a: HP:0033718 ! EEG with central epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:31:02Z [Term] id: HP:0011292 name: EEG with occipital sharp waves def: "EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C2206521 is_a: HP:0011196 ! EEG with focal sharp waves is_a: HP:0033720 ! EEG with occipital epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:31:29Z [Term] id: HP:0011293 name: EEG with central sharp waves def: "EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C2207327 is_a: HP:0011196 ! EEG with focal sharp waves is_a: HP:0033718 ! EEG with central epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:32:48Z [Term] id: HP:0011294 name: EEG with frontal sharp waves def: "EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C2206518 is_a: HP:0011196 ! EEG with focal sharp waves is_a: HP:0033716 ! EEG with frontal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:33:10Z [Term] id: HP:0011295 name: EEG with parietal sharp waves def: "EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C2206520 is_a: HP:0011196 ! EEG with focal sharp waves is_a: HP:0033719 ! EEG with parietal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:33:29Z [Term] id: HP:0011296 name: EEG with temporal sharp waves def: "EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C2206519 is_a: HP:0011196 ! EEG with focal sharp waves is_a: HP:0033717 ! EEG with temporal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T12:33:47Z [Term] id: HP:0011297 name: Abnormal digit morphology def: "A morphological abnormality of a digit, i.e., of a finger or toe." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of digit" EXACT [] synonym: "Abnormality of fingers or toes" EXACT layperson [] synonym: "Digital anomalies" EXACT [] xref: UMLS:C3550704 is_a: HP:0002813 ! Abnormal limb bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T07:16:22Z [Term] id: HP:0011298 name: Prominent digit pad def: "A soft tissue prominence of the ventral aspects of the fingertips or toe tips." [PMID:19125433] comment: The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known. synonym: "Prominent digit pad" EXACT layperson [] xref: UMLS:C4023424 is_a: HP:0011356 ! Regional abnormality of skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-11T07:18:29Z [Term] id: HP:0011299 name: Partial absence of finger def: "The absence of a phalangeal segment of a finger." [PMID:19125433] comment: The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers. subset: hposlim_core synonym: "Partial absence of finger" EXACT layperson [] xref: UMLS:C4023423 is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-11T10:57:07Z [Term] id: HP:0011300 name: Broad fingertip def: "Increased width of the distal segment of a finger." [PMID:19125433] comment: This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad. The distinction to the term Broad distal phalanx of finger is that this term is a clinical impression while Broad distal phalanx of finger refers to the objectively measured width of the distal phalane (bone), a radiological finding. subset: hposlim_core synonym: "Broad fingertip" EXACT layperson [] synonym: "Broad fingertips" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1968816 is_a: HP:0001211 ! Abnormal fingertip morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-11T11:18:08Z [Term] id: HP:0011301 name: Absent foot def: "The total absence of the foot, with no bony elements distal to the tibia or fibula." [PMID:19125433] subset: hposlim_core synonym: "Absent foot" EXACT layperson [] synonym: "Aplasia of the foot" EXACT [] synonym: "Apodia" EXACT [] xref: SNOMEDCT_US:371197005 xref: UMLS:C0265624 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:6000946 ! Transverse terminal lower limb defect property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-11T11:20:59Z [Term] id: HP:0011302 name: Long palm alt_id: HP:0001502 def: "For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length." [PMID:19125433] subset: hposlim_core synonym: "Long palm" EXACT layperson [] xref: UMLS:C4023422 is_a: HP:0100871 ! Abnormal palm morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T10:20:56Z [Term] id: HP:0011303 name: Convex contour of sole def: "The contour of the foot in lateral profile has a convex shape." [PMID:19125433] comment: This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot. xref: UMLS:C4023421 is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T11:06:12Z [Term] id: HP:0011304 name: Broad thumb alt_id: HP:0001173 alt_id: HP:0001240 alt_id: HP:0004073 alt_id: HP:0009651 def: "Increased thumb width without increased dorso-ventral dimension." [PMID:19125433] comment: Note that this term should not be used for thumbs that meet the definition for Macrodactyly. subset: hposlim_core synonym: "Broad phalanges of the thumb" EXACT [] synonym: "Broad thumb" EXACT layperson [] synonym: "Broad thumbs" EXACT layperson [] synonym: "Wide/broad thumb" EXACT layperson [] synonym: "Wide/broad thumb phalanges" EXACT [] xref: SNOMEDCT_US:249773003 xref: UMLS:C0426891 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009768 ! Broad phalanges of the hand property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T11:15:31Z [Term] id: HP:0011305 name: Partial absence of toe def: "The absence of a phalangeal segment of a toe or hallux." [PMID:19125433] comment: The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe. synonym: "Hypophalangy of toes" EXACT [] synonym: "Partial absence of toe" EXACT layperson [] xref: UMLS:C4021169 is_a: HP:0010760 ! Absent toe property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T12:20:32Z [Term] id: HP:0011307 name: Splayed toes def: "Divergence of digits along the anteroposterior axis (in the plane of the sole)." [PMID:19125433] synonym: "Splayed toes" EXACT layperson [] xref: UMLS:C2117390 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T12:38:36Z [Term] id: HP:0011308 name: Slender toe alt_id: HP:0200091 def: "Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [PMID:19125433] synonym: "Narrow toe" EXACT layperson [] synonym: "Slender toe" EXACT layperson [] xref: UMLS:C4021168 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T12:39:51Z [Term] id: HP:0011309 name: Tapered toe alt_id: HP:0008088 alt_id: HP:0200089 def: "The gradual reduction in girth of the toe from proximal to distal." [PMID:19125433] synonym: "Tapered toe" EXACT layperson [] synonym: "Tapering toes" EXACT layperson [] xref: UMLS:C4021167 is_a: HP:0001780 ! Abnormal toe morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T12:41:30Z [Term] id: HP:0011310 name: Bridged palmar crease def: "A crease that connects the proximal and distal transverse palmar creases." [PMID:19125433] comment: The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation. synonym: "Bridged palm line" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Transitional palmar crease" EXACT [] xref: UMLS:C4021166 is_a: HP:0010490 ! Abnormality of the palmar creases property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T12:56:40Z [Term] id: HP:0011311 name: Sydney crease def: "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm." [PMID:19125433] comment: The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm. xref: UMLS:C4023420 is_a: HP:0010490 ! Abnormality of the palmar creases property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T12:58:13Z [Term] id: HP:0011312 name: Fused nails def: "A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature." [PMID:19125433] comment: The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately. synonym: "Fused nails" EXACT layperson [] xref: UMLS:C4023419 is_a: HP:0002164 ! Nail dysplasia property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T01:12:22Z [Term] id: HP:0011313 name: Narrow nail alt_id: HP:0200076 def: "Decreased width of nail." [PMID:19125433] synonym: "Narrow nail" EXACT layperson [] xref: UMLS:C4021829 is_a: HP:0002164 ! Nail dysplasia property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T01:33:34Z [Term] id: HP:0011314 name: Abnormal long bone morphology alt_id: HP:0100713 alt_id: HP:0100714 alt_id: HP:0100715 def: "An abnormality of size or shape of the long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of long bone morphology" EXACT [] synonym: "Abnormality of the tubular bones" EXACT [] xref: UMLS:C4021165 is_a: HP:0011844 ! Abnormal appendicular skeleton morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-02-12T02:31:03Z [Term] id: HP:0011315 name: Unicoronal synostosis def: "Synostosis affecting only one of the coronal sutures." [https://orcid.org/0000-0002-2972-5481] synonym: "Unilateral coronal craniosynostosis" RELATED [] synonym: "Unilateral coronal suture craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Unilateral coronal suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4020756 xref: UMLS:C4023418 is_a: HP:0004440 ! Coronal craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:08:28Z [Term] id: HP:0011316 name: Left unicoronal synostosis def: "Synostosis affecting only the left coronal suture." [https://orcid.org/0000-0002-2972-5481] xref: UMLS:C4023417 is_a: HP:0011315 ! Unicoronal synostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:10:32Z [Term] id: HP:0011317 name: Right unicoronal synostosis def: "Unicoronal synostosis affecting only the right coronal suture." [https://orcid.org/0000-0002-2972-5481] xref: UMLS:C4023416 is_a: HP:0011315 ! Unicoronal synostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:11:21Z [Term] id: HP:0011318 name: Bicoronal synostosis def: "Synostosis affecting the right and the left coronal suture." [https://orcid.org/0000-0002-2972-5481] subset: hposlim_core synonym: "Bilateral coronal craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral coronal suture craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral coronal suture synostosis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021164 is_a: HP:0004440 ! Coronal craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:11:41Z [Term] id: HP:0011319 name: Bilambdoid synostosis def: "Premature synostosis of both lambdoid sutures." [https://orcid.org/0000-0002-2972-5481] subset: hposlim_core synonym: "Bilateral lambdoid craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral lambdoid suture synostosis" EXACT [] xref: UMLS:C4021163 is_a: HP:0004443 ! Lambdoidal craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:12:22Z [Term] id: HP:0011320 name: Unilambdoid synostosis def: "Premature synostosis of only one lambdoid suture." [https://orcid.org/0000-0002-2972-5481] subset: hposlim_core synonym: "Unilateral lambdoid craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Unilateral lambdoid suture synostosis" EXACT [] xref: UMLS:C4021162 is_a: HP:0004443 ! Lambdoidal craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:13:20Z [Term] id: HP:0011321 name: Left unilambdoid synostosis def: "Premature synostosis of only the left lambdoid suture." [https://orcid.org/0000-0002-2972-5481] xref: UMLS:C4023415 is_a: HP:0011320 ! Unilambdoid synostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:13:46Z [Term] id: HP:0011322 name: Right unilambdoid synostosis def: "Premature synostosis of only the right lambdoid suture." [https://orcid.org/0000-0002-2972-5481] xref: UMLS:C4023414 is_a: HP:0011320 ! Unilambdoid synostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:14:34Z [Term] id: HP:0011323 name: Cleft of chin def: "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin." [https://orcid.org/0000-0002-9602-2321] synonym: "Cleft of chin" EXACT layperson [] synonym: "Midline defect of chin" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849227 is_a: HP:0000306 ! Abnormality of the chin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T05:17:03Z [Term] id: HP:0011324 name: Multiple suture craniosynostosis def: "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified." [https://orcid.org/0000-0002-2972-5481] comment: If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available. synonym: "Multisutural craniosynostosis" EXACT [] xref: UMLS:C4021161 is_a: HP:0001363 ! Craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:16:13Z [Term] id: HP:0011325 name: Pansynostosis def: "Craniosynostosis of all calvarial sutures." [https://orcid.org/0000-0002-2972-5481] synonym: "Sysnostosis of all cranial sutures" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021827 is_a: HP:0011324 ! Multiple suture craniosynostosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T01:27:38Z [Term] id: HP:0011326 name: Anterior plagiocephaly def: "Asymmetry of the anterior part of the skull." [https://orcid.org/0000-0002-2972-5481] comment: Anterior plagiocephaly may have synostotic or non-synostotic causes. synonym: "Anterior flat head syndrome" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Coronal synostosis" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Deformational anterior plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformational frontal plagiocephaly" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Frontal plagiocephaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Positional anterior plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Positional frontal plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Unicoronal craniosynostosis" RELATED [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:254020001 xref: UMLS:C0432124 xref: UMLS:C4023413 xref: UMLS:C4280328 xref: UMLS:C4280329 xref: UMLS:C4280330 is_a: HP:0001357 ! Plagiocephaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T02:10:41Z [Term] id: HP:0011327 name: Posterior plagiocephaly def: "Asymmetry of the posterior part of the skull." [https://orcid.org/0000-0002-2972-5481, PMID:10876272] comment: Anterior plagiocephaly may have synostotic or non-synostotic causes. synonym: "Deformational posterior plagiocephaly" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Occipital plagiocephaly" EXACT [] xref: UMLS:C4021160 is_a: HP:0001357 ! Plagiocephaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T02:11:33Z [Term] id: HP:0011328 name: Abnormal fontanelle morphology def: "An abnormality of the fontanelle." [https://orcid.org/0000-0002-0736-9199, PMID:12825844] comment: The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life. subset: hposlim_core synonym: "Anomaly of the fontanelles" RELATED [] xref: UMLS:C4020755 is_a: HP:0000235 ! Abnormal cranial suture/fontanelle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T02:34:36Z [Term] id: HP:0011329 name: Abnormality of cranial sutures def: "Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranial sutures" EXACT layperson [] synonym: "Abnormality of the bregma sutures" EXACT [] synonym: "Abnormality of the calvarium sutures" EXACT [] synonym: "Abnormality of the cranial sutures" EXACT [] synonym: "Abnormality of the skull suture" EXACT [] xref: UMLS:C4023412 is_a: HP:0000235 ! Abnormal cranial suture/fontanelle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T03:33:56Z [Term] id: HP:0011330 name: Metopic synostosis def: "Premature fusion of the metopic suture." [https://orcid.org/0000-0002-2972-5481] subset: hposlim_core synonym: "Metopic craniosynostosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Metopic suture craniosynostosis" EXACT [] xref: SNOMEDCT_US:109409003 xref: UMLS:C0432122 xref: UMLS:C1860819 is_a: HP:0005556 ! Abnormality of the metopic suture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T03:52:01Z [Term] id: HP:0011331 name: Hemifacial atrophy def: "Unilateral atrophy of facial tissues, including muscles, bones and skin." [https://orcid.org/0000-0002-2972-5481] subset: hposlim_core synonym: "Atrophy of half of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Atrophy of one side of the face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial hemiatrophy" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:718224004 xref: SNOMEDCT_US:95834000 xref: UMLS:C0015458 is_a: HP:0000324 ! Facial asymmetry property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T05:04:56Z [Term] id: HP:0011332 name: Hemifacial hypoplasia def: "Unilateral underdevelopment of the facial tissues, including muscles and bones." [https://orcid.org/0000-0002-2972-5481] synonym: "Decrease in size of half of face" EXACT [] synonym: "Decrease in size of one side of the face" EXACT [] synonym: "Decreased size of half of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of one side of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hemifacial microsomia" RELATED [] synonym: "Shrinking of half of face" EXACT [] synonym: "Shrinking of one side of the face" EXACT [] xref: SNOMEDCT_US:254025006 xref: UMLS:C3495417 xref: UMLS:C4023411 is_a: HP:0000324 ! Facial asymmetry property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T05:05:45Z [Term] id: HP:0011333 name: Asymmetric crying face def: "Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side." [https://orcid.org/0000-0003-2958-5076] comment: Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve. synonym: "Asymmetric crying face" EXACT layperson [] synonym: "Hypoplasia of depressor angula oris muscle" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Partial unilateral facial paresis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:51409009 xref: UMLS:C0431406 xref: UMLS:C4280327 is_a: HP:0000324 ! Facial asymmetry property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T05:07:01Z [Term] id: HP:0011334 name: Facial shape deformation synonym: "Distortion of facial shape" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial shape compression" EXACT [] synonym: "Facial shape deformation" EXACT layperson [] xref: UMLS:C4021159 is_a: HP:0001999 ! Abnormal facial shape property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T05:10:19Z [Term] id: HP:0011335 name: Frontal hirsutism def: "Excessive amount of hair growth on forehead." [https://orcid.org/0000-0002-9602-2321] synonym: "Hairy forehead" EXACT layperson [] synonym: "Hirsute forehead" EXACT [] xref: UMLS:C1839830 is_a: HP:0000290 ! Abnormal forehead morphology is_a: HP:0009937 ! Facial hirsutism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T05:21:59Z [Term] id: HP:0011336 name: Bitemporal forceps marks def: "Bilateral temporal scarlike defects, which are said to resemble forceps marks." [https://orcid.org/0000-0002-9602-2321, PMID:1401310] comment: Congenital, bilateral, scarlike facial lesions have been reported under several titles, such as hereditary symmetric systemic aplastic nevi, congenital ectodermal dysplasia of the face, familial focal facial dermal dysplasia, bitemporal aplasia cutis congenita, and focal facial dermal dysplasia (FFDD). The findings are congenital, bilateral scarlike facial lesions in the preauricular or cheek areas. The lesions may present as slightly depressed hypopigmented scarlike oval plaques measuring about 1 cm and may have a surrounding rim of fine lanugo-like hair. Skin biopsy can reveal an atrophic epidermis with a thinned dermis devoid of adnexal structures. Elastic fibers are absent in the affected areas, as can be shown by Verhoeff-van Giesen staining. synonym: "Bitemporal aplasia cutis congenita" EXACT [] synonym: "Congenital ectodermal dysplasia of the face" EXACT [] synonym: "Congenital, bilateral, scarlike facial lesions" EXACT [] synonym: "Focal facial dermal dysplasia" RELATED [] synonym: "Temporal skin defect" RELATED [] xref: UMLS:C4020754 xref: UMLS:C4023409 is_a: HP:0000606 ! Abnormality of the periorbital region property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-25T05:25:36Z [Term] id: HP:0011337 name: Abnormality of mouth size synonym: "Abnormality of mouth size" EXACT layperson [] synonym: "Anomaly of mouth size" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023408 is_a: HP:0000163 ! Abnormal oral cavity morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-26T11:00:17Z [Term] id: HP:0011338 name: Abnormality of mouth shape def: "An abnormality of the outline, configuration, or contour of the mouth." [HPO_CONTRIBUTOR:DDD_jhurst] synonym: "Abnormality of mouth shape" EXACT layperson [] synonym: "Anomaly of mouth shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unusual mouth shape" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4874 xref: UMLS:C4023407 is_a: HP:0000163 ! Abnormal oral cavity morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-26T01:05:23Z [Term] id: HP:0011339 name: Abnormality of upper lip vermillion def: "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the red part of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the upper lip vermillion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the upper lip vermillion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the upper lip vermillion" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023406 is_a: HP:0000177 ! Abnormal upper lip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-26T01:32:28Z [Term] id: HP:0011340 name: Incomplete cleft of the upper lip def: "Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity." [https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-9602-2321] comment: If the cleft lip is on only one side, use 'Incomplete unilateral cleft lip' (HP:5201000). This term was created to be used in association with a left (HP:0012835) or right (HP:0012834) modifier to annotate completeness of a cleft lip. synonym: "Forme fruste unilateral cleft lip" EXACT [] synonym: "Incomplete cheiloschisis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Incomplete cleft of the upper lip" EXACT layperson [] synonym: "Notched cleft of the upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Partial cleft of the upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021158 is_a: HP:0000204 ! Cleft upper lip property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-26T01:55:36Z [Term] id: HP:0011341 name: Long upper lip def: "Increased width of the upper lip." [HPO_CONTRIBUTOR:DDD_jhurst] synonym: "Elongation of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical length of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long upper lip" EXACT layperson [] xref: UMLS:C3151495 is_a: HP:0000177 ! Abnormal upper lip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-26T01:58:08Z [Term] id: HP:0011342 name: Mild global developmental delay def: "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882] synonym: "Global developmental delay, mild" EXACT [] synonym: "Psychomotor retardation, mild" RELATED [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2229182 xref: UMLS:C4012968 is_a: HP:0001263 ! Global developmental delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-29T11:19:49Z [Term] id: HP:0011343 name: Moderate global developmental delay def: "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882] synonym: "Global developmental delay, moderate" EXACT [] synonym: "Psychomotor retardation, moderate" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2237142 is_a: HP:0001263 ! Global developmental delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-29T11:20:28Z [Term] id: HP:0011344 name: Severe global developmental delay def: "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882] synonym: "Global developmental delay, severe" EXACT [] synonym: "Severe psychomotor retardation" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1837397 xref: UMLS:C1854919 is_a: HP:0001263 ! Global developmental delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-02-29T11:20:45Z [Term] id: HP:0011345 name: Moderate expressive language delay def: "A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-6410-0882] xref: SNOMEDCT_US:62211000119103 xref: UMLS:C3532933 is_a: HP:0002474 ! Expressive language delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T08:45:49Z [Term] id: HP:0011346 name: Mild expressive language delay def: "A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [https://orcid.org/0000-0002-6410-0882] xref: SNOMEDCT_US:62231000119108 xref: UMLS:C3532934 is_a: HP:0002474 ! Expressive language delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T08:46:23Z [Term] id: HP:0011347 name: Abnormality of ocular abduction def: "An abnormality involving the movement of the eye outwards." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023405 is_a: HP:0000496 ! Abnormality of eye movement property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T10:18:05Z [Term] id: HP:0011348 name: Abnormal sixth cranial nerve morphology def: "Any structural abnormality of the abducens nerve." [https://orcid.org/0000-0002-0736-9199] comment: The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head). synonym: "Abnormal abducens nerve morphology" EXACT [] synonym: "Abnormality of the sixth cranial nerve" EXACT [] xref: UMLS:C4023404 is_a: HP:0001291 ! Abnormal cranial nerve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T10:20:44Z [Term] id: HP:0011349 name: obsolete Abducens palsy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0006897 creation_date: 2012-03-01T10:30:20Z [Term] id: HP:0011350 name: Mild receptive language delay def: "A mild delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-6410-0882] xref: SNOMEDCT_US:89501000119108 xref: UMLS:C3532948 is_a: HP:0010863 ! Receptive language delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T10:52:40Z [Term] id: HP:0011351 name: Moderate receptive language delay def: "A moderate delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-6410-0882] xref: SNOMEDCT_US:89381000119107 xref: UMLS:C3532946 is_a: HP:0010863 ! Receptive language delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T10:53:13Z [Term] id: HP:0011352 name: Severe receptive language delay def: "A severe delay in the acquisition of the ability to understand the speech of others." [https://orcid.org/0000-0002-6410-0882] xref: SNOMEDCT_US:89391000119105 xref: UMLS:C3532947 is_a: HP:0010863 ! Receptive language delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T10:53:30Z [Term] id: HP:0011353 name: Arterial intimal fibrosis def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries." [https://orcid.org/0000-0002-0736-9199] synonym: "Intimal fibrosis" RELATED [] xref: UMLS:C4020753 xref: UMLS:C4023403 is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T01:05:59Z [Term] id: HP:0011354 name: Generalized abnormality of skin def: "An abnormality of the skin that is not localized to any one particular region." [https://orcid.org/0000-0003-1773-4011] synonym: "Generalised abnormality of skin" EXACT layperson [] synonym: "Generalized abnormality of skin" EXACT layperson [] xref: UMLS:C4021157 is_a: HP:0011121 ! Abnormal skin morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T01:55:07Z [Term] id: HP:0011355 name: Localized skin lesion def: "A lesion of the skin that is located in a specific region rather than being generalized." [https://orcid.org/0000-0003-1773-4011] synonym: "Localised skin lesion" EXACT uk_spelling [] synonym: "Localized skin lesion" EXACT layperson [] xref: UMLS:C0850826 is_a: HP:0011121 ! Abnormal skin morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T02:37:43Z [Term] id: HP:0011356 name: Regional abnormality of skin def: "An abnormality of the skin that is restricted to a particular body region." [https://orcid.org/0000-0003-1773-4011] xref: UMLS:C4023402 is_a: HP:0011121 ! Abnormal skin morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T02:39:14Z [Term] id: HP:0011357 name: obsolete Abnormality of hair density property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0011362 creation_date: 2012-03-01T02:51:40Z [Term] id: HP:0011358 name: Generalized hypopigmentation of hair def: "Reduced pigmentation of hair diffusely." [https://orcid.org/0000-0003-1773-4011] synonym: "Generalised hypopigmentation of hair" EXACT uk_spelling [] xref: UMLS:C4023400 is_a: HP:0005599 ! Hypopigmentation of hair property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T03:32:59Z [Term] id: HP:0011359 name: Dry hair alt_id: HP:0200077 alt_id: HP:0200079 alt_id: HP:0200080 def: "Hair that lacks the luster (shine or gleam) of normal hair." [https://orcid.org/0000-0003-1773-4011] synonym: "Dry hair" EXACT layperson [] xref: SNOMEDCT_US:79395009 xref: UMLS:C0277960 is_a: HP:0010719 ! Abnormality of hair texture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T04:24:09Z [Term] id: HP:0011360 name: Acquired abnormal hair pattern def: "An abnormality of the distribution of hair growth that is acquired during the course of life." [https://orcid.org/0000-0003-1773-4011] synonym: "Acquired abnormal hair pattern" EXACT layperson [] xref: UMLS:C4023399 is_a: HP:0010720 ! Abnormal hair pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T08:36:23Z [Term] id: HP:0011361 name: Congenital abnormal hair pattern def: "A congenital abnormality of the distribution of hair growth." [https://orcid.org/0000-0003-1773-4011] synonym: "Abnormal hair pattern since birth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023398 is_a: HP:0010720 ! Abnormal hair pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T08:39:51Z [Term] id: HP:0011362 name: Abnormal hair quantity alt_id: HP:0002115 alt_id: HP:0011357 def: "An abnormal amount of hair." [https://orcid.org/0000-0003-1773-4011] synonym: "Abnormal hair quantity" EXACT layperson [] synonym: "Abnormality of hair density" EXACT [] xref: UMLS:C4023397 xref: UMLS:C4023401 is_a: HP:0001595 ! Abnormal hair morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T08:46:57Z [Term] id: HP:0011363 name: Abnormality of hair growth rate def: "Hair whose growth rate deviates from the norm." [https://orcid.org/0000-0003-1773-4011] comment: Hair growth rate is normally about 1.25 centimeters per month. synonym: "Abnormality of hair growth rate" EXACT layperson [] synonym: "Abnormality of pace of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of speed of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023396 is_a: HP:0040170 ! Abnormality of hair growth property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T09:46:36Z [Term] id: HP:0011364 name: White hair def: "Hypopigmented hair that appears white." [https://orcid.org/0000-0003-1773-4011] synonym: "White hair" EXACT layperson [] xref: SNOMEDCT_US:297993006 xref: UMLS:C0239804 is_a: HP:0011358 ! Generalized hypopigmentation of hair property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T09:50:48Z [Term] id: HP:0011365 name: Patchy hypopigmentation of hair def: "Reduced pigmentation of hair in patches." [https://orcid.org/0000-0003-1773-4011] xref: UMLS:C4023395 is_a: HP:0005599 ! Hypopigmentation of hair property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-01T09:52:58Z [Term] id: HP:0011367 name: Yellow nails def: "Yellowish discoloration of the nails." [https://orcid.org/0000-0003-1773-4011] synonym: "Yellow nails" EXACT layperson [] xref: SNOMEDCT_US:45342007 xref: UMLS:C1768507 is_a: HP:0100643 ! Abnormality of nail color property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-03T12:08:12Z [Term] id: HP:0011368 name: Epidermal thickening alt_id: HP:0001035 def: "Thickening of the epidermal layer of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of keratinization" RELATED [] xref: UMLS:C0494876 xref: UMLS:C4020752 is_a: HP:0001072 ! Thickened skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-03T12:25:18Z [Term] id: HP:0011369 name: Mongolian blue spot def: "Congenital deep dermal melanosis in the sacral area." [https://orcid.org/0000-0003-1773-4011] xref: SNOMEDCT_US:40467008 xref: UMLS:C0265985 is_a: HP:0001034 ! Hypermelanotic macule property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-03T03:34:48Z [Term] id: HP:0011370 name: Recurrent cutaneous fungal infections def: "Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections." [] xref: UMLS:C4023394 is_a: HP:0001581 ! Recurrent skin infections is_a: HP:0002841 ! Recurrent fungal infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-03T10:34:52Z [Term] id: HP:0011371 name: Recurrent viral skin infections def: "Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections." [] synonym: "Recurrent viral skin infections" EXACT layperson [] xref: UMLS:C4023393 is_a: HP:0001581 ! Recurrent skin infections is_a: HP:0004429 ! Recurrent viral infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-03T10:36:20Z [Term] id: HP:0011372 name: Aplasia of the inner ear def: "Absence of the inner ear due to a developmental defect." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] comment: Aplasia of the inner ear is usually diagnosed on MR or CT imaging. synonym: "Absent inner ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the labyrinth" EXACT [] synonym: "Labyrinthine aplasia" EXACT [] synonym: "Michel deformity" EXACT [] xref: SNOMEDCT_US:71973003 xref: UMLS:C0266604 is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-07T08:23:52Z [Term] id: HP:0011373 name: Incomplete partition of the cochlea def: "Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023392 is_a: HP:0008554 ! Cochlear malformation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-07T08:24:55Z [Term] id: HP:0011374 name: Incomplete partition of the cochlea type I def: "Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz, PMID:21849370] xref: UMLS:C4023391 is_a: HP:0011373 ! Incomplete partition of the cochlea property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-07T08:26:25Z [Term] id: HP:0011375 name: Cochlear aplasia def: "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO_CONTRIBUTOR:dfitzpatrick] synonym: "Absent cochlea" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023390 is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-07T08:31:27Z [Term] id: HP:0011376 name: Abnormal morphology of the vestibule of the inner ear def: "A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] comment: The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration. synonym: "Morphological abnormality of the vestibule of the inner ear" EXACT [] synonym: "Vestibular abnormality" EXACT [] xref: UMLS:C0542259 is_a: HP:0011390 ! Abnormal inner ear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-07T08:35:08Z [Term] id: HP:0011377 name: Aplasia of the vestibule def: "Complete absence of the vestibule of the inner ear." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Absent vestibule" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023389 is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-07T08:37:27Z [Term] id: HP:0011378 name: Hypoplasia of the vestibule of the inner ear def: "Underdevelopment of the vestibule of the inner ear." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] xref: UMLS:C4023388 is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:06:20Z [Term] id: HP:0011379 name: Dilated vestibule of the inner ear def: "Dilatation of the vestibule of the inner ear." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] xref: UMLS:C4023387 is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:07:38Z [Term] id: HP:0011380 name: Abnormal semicircular canal morphology def: "An abnormality of the morphology of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Morphological abnormality of the semicircular canal" EXACT [] xref: UMLS:C4023386 is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:12:21Z [Term] id: HP:0011381 name: Aplasia of the semicircular canal def: "Absence of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Absent semicircular canal" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023385 is_a: HP:0011380 ! Abnormal semicircular canal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:14:57Z [Term] id: HP:0011382 name: Hypoplasia of the semicircular canal def: "Underdevelopment of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Hypoplasia of the semicircular canals" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Small semicircular canal" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3552156 is_a: HP:0011380 ! Abnormal semicircular canal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:15:47Z [Term] id: HP:0011383 name: Enlarged semicircular canal def: "Increased size of the semicircular canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Dilated semicircular canal" EXACT [] xref: UMLS:C4021156 is_a: HP:0011380 ! Abnormal semicircular canal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:16:58Z [Term] id: HP:0011384 name: Abnormality of the internal auditory canal def: "An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] synonym: "Abnormality of the internal acoustic meatus" EXACT [] xref: UMLS:C4021155 is_a: HP:0011390 ! Abnormal inner ear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:26:47Z [Term] id: HP:0011385 name: Absent internal auditory canal def: "Aplasia of the internal auditory canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] xref: UMLS:C4023384 is_a: HP:0011384 ! Abnormality of the internal auditory canal property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:33:46Z [Term] id: HP:0011386 name: Narrow internal auditory canal def: "Reduction in diameter of the internal auditory canal." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] xref: UMLS:C4023383 is_a: HP:0011384 ! Abnormality of the internal auditory canal property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:35:00Z [Term] id: HP:0011387 name: Enlarged vestibular aqueduct def: "Increased size of the vestibular aqueduct." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] comment: Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. synonym: "Dilated vestibular aqueduct" EXACT [] synonym: "Widened vestibular aqueduct" EXACT [] xref: UMLS:C1863752 is_a: HP:0011376 ! Abnormal morphology of the vestibule of the inner ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:38:34Z [Term] id: HP:0011388 name: Enlarged cochlear aqueduct def: "Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] comment: The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher. synonym: "Dilated cochlear aqueduct" EXACT [] xref: UMLS:C4021154 is_a: HP:0000375 ! Abnormal cochlea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-09T07:41:47Z [Term] id: HP:0011389 name: Functional abnormality of the inner ear def: "An abnormality of the function of the inner ear." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] comment: The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. synonym: "Functional abnormality of the inner ear" EXACT layperson [] xref: UMLS:C4023382 is_a: HP:0031704 ! Abnormal ear physiology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-03-09T04:58:30Z [Term] id: HP:0011390 name: Abnormal inner ear morphology def: "A structural anomaly of the internal part of the ear." [https://orcid.org/0000-0002-0736-9199] comment: The inner ear contains the cochlea and the semicircular canals. synonym: "Morphological abnormality of the inner ear" EXACT [] xref: UMLS:C4023381 is_a: HP:0000359 ! Abnormality of the inner ear property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-03-09T04:59:24Z [Term] id: HP:0011391 name: Abnormal inner ear nerve morphology synonym: "Morphological abnormality of the nerves of the inner ear" EXACT [] xref: UMLS:C4023380 is_a: HP:0011390 ! Abnormal inner ear morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-03-09T05:03:30Z [Term] id: HP:0011392 name: Abnormality of the vestibular nerve xref: UMLS:C4023379 is_a: HP:0011391 ! Abnormal inner ear nerve morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-03-09T05:03:47Z [Term] id: HP:0011393 name: Aplasia of the vestibular nerve. def: "Absence of the vestibular nerve" [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] comment: May be seen in CHARGE syndrome. synonym: "Absent cranial nerve viii" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Absent the eighth cranial nerve" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Absent vestribular nerve" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of cranial nerve VIII" RELATED [] synonym: "Aplasia of the eighth cranial nerve" EXACT [] xref: UMLS:C4020751 xref: UMLS:C4021153 is_a: HP:0011392 ! Abnormality of the vestibular nerve property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-03-09T05:08:14Z [Term] id: HP:0011394 name: Hypoplasia of the vestibular nerve def: "Underdevelopment of the vestibular nerve." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Hypoplasia of cranial nerve VIII" RELATED [] synonym: "Hypoplasia of the eighth cranial nerve" EXACT [] synonym: "Thin vestibular nerve" EXACT [] xref: UMLS:C4020750 is_a: HP:0011392 ! Abnormality of the vestibular nerve property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-03-09T05:14:35Z [Term] id: HP:0011395 name: Aplasia/Hypoplasia of the cochlea def: "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small cochlea" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped cochlea" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023378 is_a: HP:0000375 ! Abnormal cochlea morphology is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-03-09T05:37:50Z [Term] id: HP:0011396 name: Abnormality of the cochlear nerve def: "Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe." [PMID:30726044] xref: UMLS:C4023377 is_a: HP:0011391 ! Abnormal inner ear nerve morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-03-09T05:39:04Z [Term] id: HP:0011397 name: Abnormality of the dorsal column of the spinal cord def: "An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus." [https://orcid.org/0000-0002-0736-9199] comment: The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception. xref: UMLS:C4023376 is_a: HP:0002143 ! Abnormal spinal cord morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-12T07:39:12Z [Term] id: HP:0011398 name: obsolete Central hypotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0001252 creation_date: 2012-03-12T04:39:51Z [Term] id: HP:0011399 name: Tibialis anterior muscle atrophy def: "Wasting of the tibialis anterior muscle." [https://orcid.org/0000-0002-0736-9199] comment: The tibialis anterior muscle is located in the front of the lower leg. The shin may appear prominent because of atrophy of the tibialis anterior muscle (sharp shin sign). synonym: "Sharp shin sign" EXACT [] synonym: "Tibialis anterior amyotrophy" EXACT [] synonym: "Tibialis muscle degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023375 is_a: HP:0008944 ! Distal lower limb amyotrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-12T06:15:40Z [Term] id: HP:0011400 name: Abnormal CNS myelination alt_id: HP:0002520 alt_id: HP:0004335 def: "An abnormality of myelination of nerves in the central nervous system." [https://orcid.org/0000-0002-9102-5232] comment: In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. synonym: "Abnormal formation of myelin sheaths" EXACT [] xref: UMLS:C4021152 is_a: HP:0002011 ! Morphological central nervous system abnormality is_a: HP:0012447 ! Abnormal myelination property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-12T07:24:42Z [Term] id: HP:0011401 name: Delayed peripheral myelination def: "Delayed myelination in the peripheral nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023374 is_a: HP:0003130 ! Abnormal peripheral myelination is_a: HP:0012448 ! Delayed myelination property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-12T08:08:41Z [Term] id: HP:0011402 name: Demyelinating sensory neuropathy def: "Demyelination of peripheral sensory nerves." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023373 is_a: HP:0007108 ! Demyelinating peripheral neuropathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-12T08:28:12Z [Term] id: HP:0011403 name: Abnormal umbilical cord blood vessel morphology synonym: "Abnormal umbilical cord blood vessels" EXACT [] xref: UMLS:C4023372 is_a: HP:0010881 ! Abnormality of the umbilical cord property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T11:05:13Z [Term] id: HP:0011404 name: Lethal short-trunk short stature def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Lethal short-trunk dwarfism" EXACT [] xref: UMLS:C4021151 is_a: HP:0003521 ! Disproportionate short-trunk short stature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:38:44Z [Term] id: HP:0011405 name: Childhood onset short-limb short stature alt_id: HP:0003523 synonym: "Short-limb dwarfism identifiable during childhood" EXACT [] xref: UMLS:C1867487 is_a: HP:0008873 ! Disproportionate short-limb short stature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:44:56Z [Term] id: HP:0011406 name: Infancy onset short-trunk short stature alt_id: HP:0008851 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy." [https://orcid.org/0000-0002-0736-9199] synonym: "Short-trunk dwarfism, identifiable in infancy" EXACT [] xref: UMLS:C1846061 is_a: HP:0003521 ! Disproportionate short-trunk short stature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:45:48Z [Term] id: HP:0011407 name: Proportionate tall stature xref: UMLS:C4023371 is_a: HP:0000098 ! Tall stature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:47:20Z [Term] id: HP:0011408 name: Moderate intrauterine growth retardation def: "Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age." [https://orcid.org/0000-0002-6410-0882] xref: UMLS:C4023370 is_a: HP:0001511 ! Intrauterine growth retardation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:52:50Z [Term] id: HP:0011409 name: Abnormal placental membrane morphology def: "Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix." [PMID:28939208] synonym: "Abnormality of placental membranes" EXACT [] xref: UMLS:C4023369 is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T11:07:01Z [Term] id: HP:0011410 name: Caesarean section def: "Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy)." [] synonym: "Caesarean section" EXACT layperson [] xref: SNOMEDCT_US:200144004 xref: UMLS:C1384674 is_a: HP:0001787 ! Abnormal delivery property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:58:01Z [Term] id: HP:0011411 name: Forceps delivery synonym: "Forceps delivery" EXACT layperson [] xref: UMLS:C0341808 is_a: HP:0001787 ! Abnormal delivery property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:58:47Z [Term] id: HP:0011412 name: Ventouse delivery def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately." [https://orcid.org/0000-0002-6410-0882] synonym: "Vacuum extraction" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Vacuum-assisted vaginal delivery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:10761101000119105 xref: SNOMEDCT_US:61586001 xref: UMLS:C0042225 xref: UMLS:C1456852 xref: UMLS:C2825567 is_a: HP:0001787 ! Abnormal delivery property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T09:59:31Z [Term] id: HP:0011413 name: Shoulder dystocia def: "Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex." [PMID:15086043] comment: Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed. xref: SNOMEDCT_US:89700002 xref: UMLS:C0269825 is_a: HP:0001787 ! Abnormal delivery property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T10:01:02Z [Term] id: HP:0011414 name: Hydropic placenta def: "An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement." [https://orcid.org/0000-0002-6410-0882] synonym: "Hydrops of the placenta" EXACT [] xref: SNOMEDCT_US:75094005 xref: UMLS:C0270254 is_a: HP:0006267 ! Large placenta property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T10:07:47Z [Term] id: HP:0011415 name: Calcified placenta synonym: "Placental calcification" EXACT [] xref: SNOMEDCT_US:249174002 xref: UMLS:C0426234 is_a: HP:0100767 ! Abnormal placenta morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T10:10:35Z [Term] id: HP:0011416 name: Placental infarction synonym: "Placental thromboembolism" EXACT [] xref: SNOMEDCT_US:268585006 xref: UMLS:C0554393 is_a: HP:0100767 ! Abnormal placenta morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T10:11:39Z [Term] id: HP:0011417 name: Long umbilical cord def: "Increased length of the umbilical cord." [https://orcid.org/0000-0002-6410-0882] synonym: "Long umbilical cord" EXACT layperson [] xref: SNOMEDCT_US:237261008 xref: UMLS:C0405028 is_a: HP:0010881 ! Abnormality of the umbilical cord property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T10:12:55Z [Term] id: HP:0011418 name: Abnormal insertion of umbilical cord def: "Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta." [] xref: SNOMEDCT_US:79668009 xref: UMLS:C0269852 is_a: HP:0010881 ! Abnormality of the umbilical cord property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T10:15:01Z [Term] id: HP:0011419 name: Placental abruption def: "Separation of the placenta from the uterus wall before delivery." [https://orcid.org/0000-0002-6410-0882] synonym: "Abruptio placentae" EXACT [] xref: SNOMEDCT_US:405736009 xref: SNOMEDCT_US:415105001 xref: UMLS:C0000832 is_a: HP:0100767 ! Abnormal placenta morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-15T11:08:18Z [Term] id: HP:0011420 name: Age of death def: "The age group when the cessation of life happens." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1546180 is_a: HP:0040006 ! Mortality/Aging [Term] id: HP:0011421 name: Death in adolescence def: "Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years)." [https://orcid.org/0000-0002-0736-9199] synonym: "Death in adolescence" EXACT layperson [] xref: UMLS:C4023368 is_a: HP:0011420 ! Age of death property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-16T06:38:44Z [Term] id: HP:0011422 name: Abnormal blood chloride concentration def: "An abnormality of chloride homeostasis or concentration in the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood Cl concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal blood Cl- concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormality of chloride homeostasis" EXACT [] xref: UMLS:C4023367 is_a: HP:0003111 ! Abnormal blood ion concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-16T06:09:15Z [Term] id: HP:0011423 name: Hyperchloremia def: "An abnormally increased chloride concentration in the blood." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:74450001 xref: UMLS:C0085679 is_a: HP:0011422 ! Abnormal blood chloride concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-16T06:09:40Z [Term] id: HP:0011424 name: Increased serum zinc def: "An increased concentration of zinc in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperzincemia" EXACT [] xref: UMLS:C0854520 xref: UMLS:C0856208 is_a: HP:0008277 ! Abnormal blood zinc concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T08:54:44Z [Term] id: HP:0011425 name: Fetal ultrasound soft marker def: "An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders." [PMID:16100637] comment: The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (PMID:16100637). synonym: "Foetal ultrasound soft marker" EXACT uk_spelling [] xref: UMLS:C4023366 is_a: HP:0034058 ! Abnormal fetal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T04:26:01Z [Term] id: HP:0011426 name: Fetal choroid plexus cysts def: "Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637)." [https://orcid.org/0000-0002-6410-0882, PMID:16100637, PMID:16809660] comment: There is agreement that ultrasound characteristics of CPC, such as bilaterality, size, number, complexity, and resolution, are not related to the risk of aneuploidy. However, cysts with diameters less than 5 mm may not be linked with trisomy and large cysts in excess of 10 mm may impart a higher risk. synonym: "Foetal choroid plexus cysts" EXACT uk_spelling [] xref: SNOMEDCT_US:462165005 xref: UMLS:C3532166 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0034206 ! Abnormal fetal central nervous system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T06:59:50Z [Term] id: HP:0011427 name: Enlarged fetal cisterna magna def: "The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637)." [https://orcid.org/0000-0002-6410-0882, PMID:16100637] synonym: "Enlarged foetal cisterna magna" EXACT uk_spelling [] xref: UMLS:C4023365 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0034206 ! Abnormal fetal central nervous system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:03:07Z [Term] id: HP:0011428 name: Short fetal femur length def: "A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637] synonym: "Short fetal thigh bone length" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short foetal femur length" EXACT uk_spelling [] synonym: "Short foetal thigh bone length" EXACT uk_spelling [] xref: UMLS:C0743924 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0025662 ! Abnormal fetal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:05:40Z [Term] id: HP:0011429 name: Short fetal humerus length def: "A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637] synonym: "Short fetal long bone in upper arm length" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short foetal humerus length" EXACT uk_spelling [] synonym: "Short foetal long bone in upper arm length" EXACT uk_spelling [] xref: UMLS:C4023364 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0025662 ! Abnormal fetal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:07:05Z [Term] id: HP:0011430 name: Hypoplasia of fetal nasal bone def: "On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637] synonym: "Hypoplasia of foetal nasal bone" EXACT uk_spelling [] synonym: "Underdeveloped fetal nose bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped foetal nose bone" EXACT uk_spelling [] xref: UMLS:C4023363 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0025662 ! Abnormal fetal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:08:30Z [Term] id: HP:0011431 name: Fetal fifth finger clinodactyly def: "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637)." [https://orcid.org/0000-0002-0736-9199, PMID:16100637] synonym: "Fetal little finger curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fetal pinkie finger curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Fetal pinky finger curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Foetal fifth finger clinodactyly" EXACT uk_spelling [] synonym: "Foetal little finger curvature" BROAD uk_spelling [] synonym: "Foetal pinkie finger curvature" BROAD uk_spelling [] synonym: "Foetal pinky finger curvature" BROAD uk_spelling [] xref: UMLS:C4023362 xref: UMLS:C4280326 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0025662 ! Abnormal fetal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:11:26Z [Term] id: HP:0011432 name: Elevated maternal circulating alpha-fetoprotein concentration alt_id: HP:0005984 def: "Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy." [PMID:32039804] comment: Increased levels of maternal serum alpha-fetoprotein is often part of the triple (AFP, Estriol, and human chorionic gonadotropin) or quadruple screening tests (AFP, estriol, human chorionic gonadotropin and Inhibin A) for congenital birth defects. It can be seen in fetal neural tube defects (NTD), abdominal wall defects, congenital renal disease, esophageal atresia, other fetal distress situations (eg, threatened abortion and fetal demise), multiple pregnancy, placental chorioangioma and placental lakes and other fetal and maternal conditions. Association with various adverse pregnancy outcomes reported. Usually assessed in second trimester and values above 2.5 MoM considered as significantly increased. For NTD, a screen-negative result indicates that the calculated alpha-fetoprotein (AFP) multiple of the median (MoM) falls below the established cutoff of 2.50 MoM. A negative screen does not guarantee the absence of neural tube defects. A screen-positive result indicates that the calculated AFP MoM is 2.50 or greater and may indicate an increased risk for open NTD. The actual risk depends on the level of AFP and the individual's pretest risk of having a child with NTD based on family history, geographical location, maternal conditions such as diabetes and epilepsy, and use of folate prior to conception. A screen-positive result does not infer a definitive diagnosis of a NTD but indicates that further evaluation should be considered. Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "Elevated maternal serum alpha-fetoprotein" EXACT [] synonym: "High maternal circulating alpha-fetoprotein concentration" EXACT [] synonym: "High maternal serum alpha-fetoprotein" EXACT [] synonym: "High maternal serum alpha-fetoprotein MoM" EXACT [] synonym: "High MSAFP MoM" EXACT [] synonym: "Increased maternal serum alpha-fetoprotein level" EXACT [] synonym: "MSAFP MoM>2.5" EXACT [] xref: UMLS:C4023361 is_a: HP:0011436 ! Abnormal maternal serum screening property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:45:07Z [Term] id: HP:0011433 name: High maternal circulating chorionic gonadotropin concentration def: "An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [https://orcid.org/0000-0002-6410-0882, PMID:2447576] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "High maternal serum chorionic gonadotropin" EXACT [] synonym: "High maternal serum hCG" EXACT [] xref: UMLS:C4021150 is_a: HP:0011436 ! Abnormal maternal serum screening property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:47:39Z [Term] id: HP:0011434 name: Low maternal circulating chorionic gonadotropin concentration def: "An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [https://orcid.org/0000-0002-6410-0882, PMID:2447576] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "Low maternal serum chorionic gonadotropin" EXACT [] synonym: "Low maternal serum hCG" EXACT [] xref: UMLS:C4021149 is_a: HP:0011436 ! Abnormal maternal serum screening property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:48:26Z [Term] id: HP:0011435 name: Low maternal circulating PAPP-A concentration def: "An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age." [https://orcid.org/0000-0002-6410-0882, PMID:19038077] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "Low maternal serum PAPP-A" EXACT [] xref: UMLS:C4023360 is_a: HP:0011436 ! Abnormal maternal serum screening property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:51:25Z [Term] id: HP:0011436 name: Abnormal maternal serum screening def: "An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy." [https://orcid.org/0000-0002-6410-0882, PMID:19038077] xref: UMLS:C4023359 is_a: HP:0002686 ! Pregnancy history property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:52:25Z [Term] id: HP:0011437 name: Maternal autoimmune disease def: "A medical history of a fetus or child born to a mother with an autoimmune disease." [https://orcid.org/0000-0002-6410-0882] comment: Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia. xref: UMLS:C4023358 is_a: HP:0002686 ! Pregnancy history property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:54:31Z [Term] id: HP:0011438 name: Maternal teratogenic exposure def: "A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy." [https://orcid.org/0000-0002-6410-0882] comment: Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants). xref: UMLS:C4023357 is_a: HP:0031437 ! Pregnancy exposure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-17T07:59:06Z [Term] id: HP:0011439 name: Anesthetic-induced rhabdomylosis def: "Rhabdomyolysis induced by anesthesia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023356 is_a: HP:0003201 ! Rhabdomyolysis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T12:19:01Z [Term] id: HP:0011440 name: Alcohol-induced rhabdomyolysis def: "Rhabdomyolysis induced by intake of alcohol." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023355 is_a: HP:0003201 ! Rhabdomyolysis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T12:21:35Z [Term] id: HP:0011441 name: Abnormal medulla oblongata morphology def: "An abnormality of the medulla oblongata, the lower half of the brainstem." [https://orcid.org/0000-0002-0736-9199] comment: The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. synonym: "Abnormality of the medulla oblongata" EXACT [] synonym: "Abnormality of the myencephalon" EXACT [] xref: UMLS:C4021148 is_a: HP:0002363 ! Abnormal brainstem morphology is_a: HP:0011282 ! Abnormal hindbrain morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T01:51:24Z [Term] id: HP:0011442 name: Abnormal central motor function def: "An anomaly of the control or production of movement in the central nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of central motor function" EXACT [] xref: UMLS:C4023354 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T02:29:04Z [Term] id: HP:0011443 name: Abnormality of coordination synonym: "Abnormality of coordination" EXACT layperson [] synonym: "Coordination issue" EXACT layperson [] xref: UMLS:C4023353 is_a: HP:0011442 ! Abnormal central motor function property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T02:40:46Z [Term] id: HP:0011444 name: Decorticate rigidity def: "A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus." [https://orcid.org/0000-0002-0736-9199] comment: Decorticate posturing xref: SNOMEDCT_US:36423000 xref: UMLS:C0231521 is_a: HP:0002063 ! Rigidity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T03:30:10Z [Term] id: HP:0011445 name: Athetoid cerebral palsy def: "A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone." [https://orcid.org/0000-0002-1511-5893] comment: Athetoid cerebral palsy is caused by damage to the basal ganglia. synonym: "Dyskinetic cerebral palsy" RELATED [] xref: SNOMEDCT_US:230780007 xref: SNOMEDCT_US:75019001 xref: UMLS:C0270742 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function is_a: HP:0100021 ! Cerebral palsy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T03:53:04Z [Term] id: HP:0011446 name: Abnormality of mental function def: "Cognitive, psychiatric, or memory anomaly." [] comment: This includes abnormalities in speech, mood, emotions, behavior, and cognition. synonym: "Abnormality of higher mental function" EXACT [] xref: UMLS:C4023352 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T04:23:59Z [Term] id: HP:0011447 name: Hyposegmentation of neutrophil nuclei def: "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei." [https://orcid.org/0000-0002-0736-9199] comment: Hyposegmented cells are neutrophils with fewer than three nuclear lobes. synonym: "Hyposegmentation of neutrophil nuclei in peripheral blood" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-8169-9049] synonym: "Pelger-Huet anomaly" RELATED [] xref: SNOMEDCT_US:85559002 xref: UMLS:C0030779 xref: UMLS:C4023351 is_a: HP:0011992 ! Abnormal neutrophil morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T04:44:22Z [Term] id: HP:0011448 name: Ankle clonus alt_id: HP:0002541 def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [https://orcid.org/0000-0002-0736-9199] comment: Ankle clonus is generally caused by corticospinal disease. synonym: "Abnormal rhythmic movements of ankle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:39055007 xref: UMLS:C0238651 is_a: HP:0002169 ! Clonus is_a: HP:0034674 ! Abnormal ankle physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T05:09:48Z [Term] id: HP:0011449 name: Knee clonus alt_id: HP:0002325 def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Patellar clonus" EXACT [] xref: SNOMEDCT_US:54360005 xref: UMLS:C0520823 is_a: HP:0002169 ! Clonus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T05:11:32Z [Term] id: HP:0011450 name: Unusual CNS infection def: "A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection." [] synonym: "Central nervous system infection" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:128117002 xref: UMLS:C0007684 is_a: HP:0002011 ! Morphological central nervous system abnormality is_a: HP:0032158 ! Unusual infection by anatomical site property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T05:57:29Z [Term] id: HP:0011451 name: Primary microcephaly def: "Head circumference below 2 standard deviations below the mean for age and gender at birth." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital decreased head circumference" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital microcephaly" EXACT [] synonym: "Congenital small head" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital small head circumference" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Congenital small skull" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased head circumference present at birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Head circumference small for gestational age" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Microcephaly present at birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small cranium present at birth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small head circumference present at birth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Small head present at birth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small skull present at birth" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2677180 xref: UMLS:C4020749 is_a: HP:0000252 ! Microcephaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-18T06:50:36Z [Term] id: HP:0011452 name: Functional abnormality of the middle ear def: "An abnormality of the function of the middle ear." [https://orcid.org/0000-0002-0736-9199] comment: The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. synonym: "Functional abnormality of the middle ear" EXACT layperson [] xref: UMLS:C4021846 is_a: HP:0000370 ! Abnormality of the middle ear property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-19T09:33:03Z [Term] id: HP:0011453 name: Abnormal incus morphology def: "An abnormality of the incus, an ossicle in the middle ear." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Abnormality of the incus" EXACT [] xref: UMLS:C4023350 is_a: HP:0004452 ! Abnormality of the middle ear ossicles property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-19T09:38:20Z [Term] id: HP:0011454 name: Abnormal malleus morphology def: "An abnormality of the malleus, an ossicle in the middle ear." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] synonym: "Abnormality of the malleus" EXACT [] xref: UMLS:C4023349 is_a: HP:0004452 ! Abnormality of the middle ear ossicles property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-19T09:40:02Z [Term] id: HP:0011455 name: Absent malleus def: "Aplasia of the malleus." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] xref: SNOMEDCT_US:300169003 xref: UMLS:C0576900 is_a: HP:0011454 ! Abnormal malleus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-19T09:40:08Z [Term] id: HP:0011456 name: Absent stapes def: "Aplasia of the stapes." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] xref: SNOMEDCT_US:300178009 xref: UMLS:C0576909 is_a: HP:0008628 ! Abnormal stapes morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-19T09:42:52Z [Term] id: HP:0011457 name: Loss of eyelashes def: "This term refers to the loss of eyelashes that were previously present." [https://orcid.org/0000-0002-0736-9199] comment: Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions. synonym: "Ciliary Madarosis" EXACT [] synonym: "Eyelashes fell out" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Loss of eyelashes" EXACT layperson [] synonym: "Milphosis" EXACT [] synonym: "Missing eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:34887006 xref: UMLS:C0271321 is_a: HP:0000499 ! Abnormal eyelash morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T09:15:21Z [Term] id: HP:0011458 name: Abdominal symptom def: "A subjective manifestation of disease localized to the abdomen." [] xref: UMLS:C0740651 is_a: HP:0025032 ! Abnormality of digestive system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T05:35:45Z [Term] id: HP:0011459 name: Esophageal carcinoma def: "The presence of a carcinoma of the esophagus." [https://orcid.org/0000-0002-6410-0882, NCIT:C3513] xref: SNOMEDCT_US:372138000 xref: UMLS:C0152018 is_a: HP:0100751 ! Esophageal neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T06:55:07Z [Term] id: HP:0011460 name: Embryonal onset def: "Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation)." [https://orcid.org/0000-0002-7744-1790] comment: The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. xref: UMLS:C4023348 is_a: HP:0030674 ! Antenatal onset property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T06:57:48Z [Term] id: HP:0011461 name: Fetal onset def: "Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks)." [https://orcid.org/0000-0002-7744-1790] comment: The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. synonym: "Foetal onset" EXACT uk_spelling [] xref: UMLS:C4023347 is_a: HP:0030674 ! Antenatal onset property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T06:58:21Z [Term] id: HP:0011462 name: Young adult onset def: "Onset of disease at the age of between 16 and 40 years." [https://orcid.org/0000-0002-6410-0882] xref: UMLS:C3554568 is_a: HP:0003581 ! Adult onset property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:01:15Z [Term] id: HP:0011463 name: Childhood onset alt_id: HP:0003586 alt_id: HP:0003617 def: "Onset of disease at the age of between 1 and 5 years." [https://orcid.org/0000-0002-6410-0882] comment: This term refers to ages up to but not including the fifth birthday (see Juvenile onset). synonym: "Symptoms begin in childhood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1837352 is_a: HP:0410280 ! Pediatric onset property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:16:20Z [Term] id: HP:0011464 name: Aganglionosis of the small intestine def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine." [https://orcid.org/0000-0002-6410-0882] xref: UMLS:C4023346 is_a: HP:0004362 ! Abnormal enteric ganglion morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:36:49Z [Term] id: HP:0011465 name: Duodenal aganglionosis def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum." [https://orcid.org/0000-0002-6410-0882] xref: UMLS:C4023345 is_a: HP:0011464 ! Aganglionosis of the small intestine property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:38:12Z [Term] id: HP:0011466 name: Aplasia/Hypoplasia of the gallbladder def: "Absence or underdevelopment of the gallbladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small gallbladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped gallbladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023344 is_a: HP:0012437 ! Abnormal gallbladder morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:40:20Z [Term] id: HP:0011467 name: Absent gallbladder def: "A developmental defect in which the gallbladder fails to form." [https://orcid.org/0000-0002-6410-0882] synonym: "Absent gallbladder" EXACT layperson [] synonym: "Agenesis of the gallbladder" EXACT [] synonym: "Aplasia of the gallbladder" EXACT [] xref: SNOMEDCT_US:86507001 xref: UMLS:C0266251 is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:41:14Z [Term] id: HP:0011468 name: Facial tics def: "Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face." [https://orcid.org/0000-0003-2958-5076] synonym: "Cramping of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial spasms" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial tics" EXACT layperson [] synonym: "Involuntary facial muscle spasms" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Jerking of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Mimic spasms" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Muscle spasm of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Myoclonus of facial muscles" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Spasms of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Twitching of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:230335009 xref: SNOMEDCT_US:32402008 xref: UMLS:C0278151 xref: UMLS:C0338467 xref: UMLS:C0858722 xref: UMLS:C4280324 xref: UMLS:C4280325 is_a: HP:0005324 ! Disturbance of facial expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:45:47Z [Term] id: HP:0011469 name: Nasal regurgitation def: "Regurgitation of milk through the nose." [HPO_CONTRIBUTOR:DDD_ncarter] xref: SNOMEDCT_US:85023004 xref: UMLS:C0232608 is_a: HP:0008872 ! Feeding difficulties in infancy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:52:19Z [Term] id: HP:0011470 name: Nasogastric tube feeding in infancy def: "Feeding problem necessitating nasogastric tube feeding." [HPO_CONTRIBUTOR:DDD_ncarter] comment: This is a severe form of feeding problems in infancy. xref: UMLS:C4023343 is_a: HP:0008872 ! Feeding difficulties in infancy is_a: HP:0033454 ! Tube feeding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T07:53:46Z [Term] id: HP:0011471 name: Gastrostomy tube feeding in infancy def: "Feeding problem necessitating gastrostomy tube feeding." [HPO_CONTRIBUTOR:DDD_ncarter] comment: This is an extremely severe form of feeding problems in infancy. synonym: "PEG-fed in infancy" RELATED [] xref: UMLS:C4020748 xref: UMLS:C4023342 is_a: HP:0008872 ! Feeding difficulties in infancy is_a: HP:0033454 ! Tube feeding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-25T10:00:00Z [Term] id: HP:0011472 name: Abnormal small intestinal villus morphology synonym: "Abnormal shape of small intestinal villus" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of small intestinal villus morphology" EXACT [] xref: UMLS:C4023341 is_a: HP:0025129 ! Abnormal small intestinal mucosa morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-26T08:16:03Z [Term] id: HP:0011473 name: Villous atrophy def: "The enteric villi are atrophic or absent." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Atrophy of small intestinal villi" EXACT [] synonym: "Biopsy shows villous atrophy" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Duodenal villous atrophy" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Small intestine biopsy shows villous atrophy" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Variable degree of villous atrophy" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Villous degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:275403002 xref: SNOMEDCT_US:75581001 xref: UMLS:C0267456 xref: UMLS:C0554101 xref: UMLS:C1833058 xref: UMLS:C1859541 xref: UMLS:C2677378 xref: UMLS:C4020747 is_a: HP:0011472 ! Abnormal small intestinal villus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-26T08:18:31Z [Term] id: HP:0011474 name: Childhood onset sensorineural hearing impairment def: "Sensorineural hearing impairment with childhood onset." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] xref: UMLS:C4023340 is_a: HP:0000407 ! Sensorineural hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-30T07:18:09Z [Term] id: HP:0011475 name: Persistent stapedial artery def: "Persistence of the stapedial artery, which normally regresses during embryonic life." [HPO_CONTRIBUTOR:DDD_mbitner-glidicz] xref: UMLS:C4023339 is_a: HP:0008609 ! Abnormal middle ear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-31T08:38:23Z [Term] id: HP:0011476 name: Profound sensorineural hearing impairment def: "Complete loss of hearing related to a sensorineural defect." [HPO_CONTRIBUTOR:DDD_dfitzpatrick] xref: UMLS:C4023338 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012715 ! Profound hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-03-31T10:21:17Z [Term] id: HP:0011477 name: Upbeat nystagmus def: "In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient." [https://orcid.org/0000-0002-0736-9199, PMID:21505601] comment: In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy. xref: SNOMEDCT_US:307677002 xref: UMLS:C0585545 is_a: HP:0010544 ! Vertical nystagmus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-01T10:54:17Z [Term] id: HP:0011478 name: True anophthalmia def: "Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination." [HPO_CONTRIBUTOR:DDD_ncarter] comment: True anophthalmia implies an early failure of eye development. synonym: "Complete anophthalmia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Completely missing eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Total anophthalmia" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2675590 is_a: HP:0000528 ! Anophthalmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-01T12:19:11Z [Term] id: HP:0011479 name: Abnormal lacrimal punctum morphology def: "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the lacrimal punctum" EXACT [] xref: UMLS:C4023337 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-01T09:08:05Z [Term] id: HP:0011480 name: Unilateral microphthalmos def: "A developmental anomaly characterized by abnormal smallness of one eye." [HPO_CONTRIBUTOR:DDD_ncarter] synonym: "Abnormally small eyeball on one side" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unilateral nanophthalmos" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3640024 xref: UMLS:C4280323 is_a: HP:0000568 ! Microphthalmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-01T12:35:57Z [Term] id: HP:0011481 name: Abnormal lacrimal duct morphology def: "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the lacrimal canaliculus" EXACT [] synonym: "Abnormality of the lacrimal duct" EXACT [] xref: UMLS:C1858567 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-01T09:11:55Z [Term] id: HP:0011482 name: Abnormal lacrimal gland morphology def: "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the lacrimal gland" EXACT [] xref: UMLS:C4023336 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-01T09:35:54Z [Term] id: HP:0011483 name: Anterior synechiae of the anterior chamber def: "Adhesions between the iris and the cornea." [HPO_CONTRIBUTOR:DDD_ncarter] synonym: "Anterior synechiae" EXACT [] synonym: "Cornea-iris adhesion" EXACT [] synonym: "Iridocorneal adhesions" EXACT [] synonym: "Iridocorneal synechia" EXACT [] xref: SNOMEDCT_US:70992005 xref: UMLS:C0152252 is_a: HP:0007833 ! Anterior chamber synechiae property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T08:50:23Z [Term] id: HP:0011484 name: Posterior synechiae of the anterior chamber def: "Adhesions between the iris and the lens." [HPO_CONTRIBUTOR:DDD_ncarter] synonym: "Iridolenticular adhesions" EXACT [] synonym: "Posterior synechiae" EXACT [] xref: SNOMEDCT_US:111512005 xref: UMLS:C0152253 is_a: HP:0007833 ! Anterior chamber synechiae property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T08:50:59Z [Term] id: HP:0011485 name: Corneolenticular adhesion def: "Developmental abnormality in which the lens and cornea are not separated." [HPO_CONTRIBUTOR:DDD_ncarter] xref: UMLS:C4023334 is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T08:52:43Z [Term] id: HP:0011486 name: Abnormal corneal thickness def: "An abnormal anteroposterior thickness of the cornea." [https://orcid.org/0000-0001-8727-6592] synonym: "Abnormality of corneal thickness" EXACT [] xref: UMLS:C4023333 is_a: HP:0000481 ! Abnormal cornea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:15:01Z [Term] id: HP:0011487 name: Increased corneal thickness def: "A increased anteroposterior thickness of the cornea." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3810451 is_a: HP:0011486 ! Abnormal corneal thickness property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:17:35Z [Term] id: HP:0011488 name: Abnormal corneal endothelium morphology def: "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea." [https://orcid.org/0000-0001-8727-6592] synonym: "Abnormality of corneal endothelium" EXACT [] xref: UMLS:C4023332 is_a: HP:0000481 ! Abnormal cornea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:18:50Z [Term] id: HP:0011489 name: Abnormal migration of corneal endothelium def: "Abnormal migration of corneal endothelium." [HPO_CONTRIBUTOR:DDD_ncarter] comment: Can be seen in posterior polymorphous corneal dystrophy. xref: UMLS:C4023331 is_a: HP:0011488 ! Abnormal corneal endothelium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:20:17Z [Term] id: HP:0011490 name: Abnormal Descemet membrane morphology def: "Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium." [https://orcid.org/0000-0001-8727-6592] synonym: "Abnormality of Descemet's membrane" EXACT [] xref: UMLS:C4023330 is_a: HP:0011488 ! Abnormal corneal endothelium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:23:11Z [Term] id: HP:0011491 name: Reduced number of corneal endothelial cells def: "A reduction in the number of corneal endothelial cells." [HPO_CONTRIBUTOR:DDD_ncarter] xref: UMLS:C4023329 is_a: HP:0011488 ! Abnormal corneal endothelium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:24:23Z [Term] id: HP:0011492 name: Abnormal corneal stroma morphology def: "An abnormality of the stroma of cornea, also known as the substantia propria of cornea." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of corneal stroma" EXACT [] xref: UMLS:C4023328 is_a: HP:0000481 ! Abnormal cornea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:28:49Z [Term] id: HP:0011493 name: Central opacification of the cornea def: "Reduced transparency of the central portion of the corneal stroma." [HPO_CONTRIBUTOR:DDD_ncarter] xref: UMLS:C4023327 is_a: HP:0007759 ! Opacification of the corneal stroma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:36:22Z [Term] id: HP:0011494 name: Generalized opacification of the cornea def: "Generalized reduced transparency of the stroma of the cornea." [https://orcid.org/0000-0001-8727-6592] synonym: "Generalised opacification of the cornea" EXACT uk_spelling [] xref: UMLS:C4021147 is_a: HP:0007759 ! Opacification of the corneal stroma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-02T10:39:50Z [Term] id: HP:0011495 name: Abnormal corneal epithelium morphology def: "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea." [https://orcid.org/0000-0001-8727-6592] synonym: "Abnormality of corneal epithelium" EXACT [] xref: UMLS:C4023326 is_a: HP:0000481 ! Abnormal cornea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-03T07:10:49Z [Term] id: HP:0011496 name: Corneal neovascularization def: "Ingrowth of new blood vessels into the cornea." [HPO_CONTRIBUTOR:DDD_ncarter, PMID:22898649] comment: New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). Corneal pannus is subepithelial fibrovascular tissue ingrowth from the limbus onto the cornea that can be observed with corneal neovascularization. synonym: "Corneal neovascularisation" EXACT uk_spelling [] synonym: "Corneal pannus" NARROW [] synonym: "Corneal vascularization" EXACT [] synonym: "Limbal neovascularization" EXACT [] synonym: "New blood vessel formation in cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:19161004 xref: UMLS:C0085109 is_a: HP:0000481 ! Abnormal cornea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-03T07:15:37Z [Term] id: HP:0011497 name: Rubeosis iridis alt_id: HP:0025319 def: "Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification." [PMID:27895936, PMID:29881517] comment: See Figure 1 of PMID:29881517. synonym: "Iris neovascularization" EXACT [] synonym: "Neovascularization of the iris" EXACT [] synonym: "New blood vessel formation in iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:51995000 xref: UMLS:C0154916 is_a: HP:0007905 ! Abnormal iris vasculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-03T07:32:43Z [Term] id: HP:0011498 name: obsolete Partial aniridia is_obsolete: true replaced_by: HP:0000526 creation_date: 2012-04-03T07:38:24Z [Term] id: HP:0011499 name: Mydriasis def: "Abnormal dilatation of the iris." [HPO_CONTRIBUTOR:DDD_ncarter] subset: hposlim_core synonym: "Dilated pupil" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:37125009 xref: UMLS:C0026961 is_a: HP:0007686 ! Abnormal pupillary function property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-03T07:49:21Z [Term] id: HP:0011500 name: Polycoria def: "Multiple pupils." [HPO_CONTRIBUTOR:DDD_ncarter] synonym: "Multiple pupils" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:204159004 xref: UMLS:C0344544 is_a: HP:0000615 ! Abnormal pupil morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-04T07:19:56Z [Term] id: HP:0011501 name: Anterior lenticonus def: "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly." [https://orcid.org/0000-0001-8727-6592] xref: SNOMEDCT_US:95480008 xref: UMLS:C0344262 is_a: HP:0001142 ! Lenticonus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-04T07:54:36Z [Term] id: HP:0011502 name: Posterior lenticonus def: "A conical projection of the posterior surface of the lens, occurring as a developmental anomaly." [https://orcid.org/0000-0001-8727-6592] xref: SNOMEDCT_US:95482000 xref: UMLS:C0344263 is_a: HP:0001142 ! Lenticonus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-04T07:55:12Z [Term] id: HP:0011503 name: Aplasia of the fovea def: "Congenital absence of the fovea." [https://orcid.org/0000-0002-0736-9199] comment: Aplasia of the fovea can occur in aniridia and albinism. synonym: "Absent fovea" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023324 is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T08:40:21Z [Term] id: HP:0011504 name: Bull's eye maculopathy def: "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [https://orcid.org/0000-0001-8727-6592, PMID:31704701] synonym: "Annular macular dystrophy" EXACT [] synonym: "Chloroquine retinopathy" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:312958000 xref: SNOMEDCT_US:424169002 xref: UMLS:C0730330 xref: UMLS:C1828210 is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T08:57:53Z [Term] id: HP:0011505 name: Cystoid macular edema def: "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [HPO_CONTRIBUTOR:DDD_ncarter] comment: CME can occur with Irvine-Gass syndrome and other disorders. synonym: "Cystoid macular edema" EXACT [] xref: SNOMEDCT_US:193387007 xref: UMLS:C0024440 is_a: HP:0040049 ! Macular edema property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:12:59Z [Term] id: HP:0011506 name: Choroidal neovascularization def: "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." [HPO_CONTRIBUTOR:DDD_ncarter] comment: This is a common symptom of the degenerative maculopathy wet age-related macular degeneration. synonym: "Choroidal neovascular membrane" EXACT [] xref: UMLS:C4023323 is_a: HP:0001103 ! Abnormal macular morphology is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:28:46Z [Term] id: HP:0011507 name: Macular flecks def: "Pale often indistinct lesions of the macula." [https://orcid.org/0000-0001-8727-6592] xref: UMLS:C4023322 is_a: HP:0030500 ! Yellow/white lesions of the macula property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:38:42Z [Term] id: HP:0011508 name: Macular hole def: "A macular hole is a small break in the macula, located in the center of the retina." [HPO_CONTRIBUTOR:DDD_ncarter] xref: SNOMEDCT_US:232006002 xref: UMLS:C0024441 is_a: HP:0001103 ! Abnormal macular morphology is_a: HP:0011958 ! Retinal perforation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:39:58Z [Term] id: HP:0011509 name: Macular hyperpigmentation def: "Increased amount of pigmentation in the macula lutea." [HPO_CONTRIBUTOR:DDD_ncarter] xref: UMLS:C0745109 is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:52:11Z [Term] id: HP:0011510 name: Drusen def: "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye." [https://orcid.org/0000-0001-8727-6592] xref: SNOMEDCT_US:18695008 xref: UMLS:C1260959 is_a: HP:0030506 ! Yellow/white lesions of the retina property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:54:42Z [Term] id: HP:0011511 name: Macular schisis def: "Splitting of the retina in the macular region." [https://orcid.org/0000-0001-8727-6592] comment: This abnormality can be seen in X-linked retinoschisis. xref: UMLS:C4023321 is_a: HP:0030498 ! Macular thickening property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:55:43Z [Term] id: HP:0011512 name: Hyperpigmentation of the fundus def: "Increased pigmentation of the fundus" [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0003-0986-4123] synonym: "Hyperpigmented fundi" EXACT [] synonym: "Hyperpigmented fundus" EXACT [] xref: UMLS:C4021146 is_a: HP:0031605 ! Abnormality of fundus pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T10:34:11Z [Term] id: HP:0011513 name: Retinal cavernous hemangioma alt_id: HP:0030508 def: "A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance." [https://orcid.org/0000-0002-0736-9199, PMID:20844673] comment: The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance. synonym: "Retinal cavernous angioma" EXACT [] synonym: "Retinal cavernous haemangioma" EXACT uk_spelling [] xref: SNOMEDCT_US:312937006 xref: UMLS:C0730304 is_a: HP:0007797 ! Retinal vascular malformation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T04:12:54Z [Term] id: HP:0011514 name: Abnormality of binocular vision def: "An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth." [HPO_CONTRIBUTOR:DDD_ncarter] xref: UMLS:C4023320 is_a: HP:0000504 ! Abnormality of vision property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T06:00:34Z [Term] id: HP:0011515 name: Abnormal stereopsis def: "Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head." [https://orcid.org/0000-0001-8727-6592] xref: UMLS:C4023319 is_a: HP:0011514 ! Abnormality of binocular vision property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T06:03:49Z [Term] id: HP:0011516 name: Achromatopsia def: "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult." [https://orcid.org/0000-0001-8727-6592, PMID:12015282] comment: The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa. synonym: "Rod monochromacy" EXACT [] synonym: "Rod monochromatism" EXACT [] xref: SNOMEDCT_US:102450007 xref: UMLS:C0302129 is_a: HP:0007803 ! Monochromacy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T06:40:03Z [Term] id: HP:0011517 name: Cone monochromacy def: "The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors." [HPO_CONTRIBUTOR:DDD_ncarter] comment: There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy. xref: UMLS:C4023318 is_a: HP:0007803 ! Monochromacy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T06:40:33Z [Term] id: HP:0011518 name: Dichromacy def: "Individuals affected by dichromacy possess only two types of cones, instead of three." [https://orcid.org/0000-0002-0736-9199] comment: The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing. xref: UMLS:C4023317 is_a: HP:0007641 ! Dyschromatopsia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T06:46:27Z [Term] id: HP:0011519 name: Anomalous trichromacy def: "Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones." [https://orcid.org/0000-0002-0736-9199] comment: Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions. xref: UMLS:C4023316 is_a: HP:0007641 ! Dyschromatopsia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T06:57:10Z [Term] id: HP:0011520 name: Deuteranomaly def: "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green." [https://orcid.org/0000-0002-0736-9199] comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. synonym: "Deuteranomoly" EXACT [] synonym: "Green-weak" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 xref: UMLS:C0155016 is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011519 ! Anomalous trichromacy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T07:14:19Z [Term] id: HP:0011521 name: Deuteranopia def: "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green." [https://orcid.org/0000-0001-8727-6592] comment: Blue and red cones only; no functional green cones. synonym: "Green-blind" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 xref: UMLS:C0155016 is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011518 ! Dichromacy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T07:34:40Z [Term] id: HP:0011522 name: Protanopia def: "Blue and green cones only; no functional red cones." [https://orcid.org/0000-0001-8727-6592] synonym: "Red-blind" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:51445007 xref: UMLS:C0155015 is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011518 ! Dichromacy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T07:45:06Z [Term] id: HP:0011523 name: Iris cyst def: "An iris cyst is composed of a single cell layer of epithelium and is filled with fluid." [https://orcid.org/0000-0001-8727-6592] xref: SNOMEDCT_US:37761009 xref: UMLS:C0271119 is_a: HP:0000525 ! Abnormality iris morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:05:29Z [Term] id: HP:0011524 name: Iris melanoma def: "Malignant tumor of melanocytes affecting the iris." [HPO_CONTRIBUTOR:DDD_ncarter] xref: NCIT:C3224 xref: SNOMEDCT_US:255012009 xref: UMLS:C0346373 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0007716 ! Uveal melanoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:06:41Z [Term] id: HP:0011525 name: Iris nevus def: "A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated." [HPO_CONTRIBUTOR:DDD_ncarter] synonym: "Eye freckle" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:95711003 xref: UMLS:C0346376 is_a: HP:0000525 ! Abnormality iris morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:11:42Z [Term] id: HP:0011526 name: Abnormality of lens shape def: "An abnormal shape of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of lens shape" EXACT layperson [] xref: UMLS:C4023314 is_a: HP:0000517 ! Abnormal lens morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:16:11Z [Term] id: HP:0011527 name: Lentiglobus def: "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging." [https://orcid.org/0000-0001-8727-6592] subset: hposlim_core synonym: "Bulging of eye lens" BROAD layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:419281007 xref: UMLS:C1622439 xref: UMLS:C4280322 is_a: HP:0011526 ! Abnormality of lens shape property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:17:01Z [Term] id: HP:0011528 name: Solitary congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance." [https://orcid.org/0000-0001-8727-6592] synonym: "Single isolated CHRPE" EXACT [] synonym: "Single isolated congenital hypertrophy of retinal pigment epithelium" EXACT [] xref: UMLS:C4021145 is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:24:44Z [Term] id: HP:0011529 name: Multiple bilateral congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated hyperpigmentation which is congenital." [https://orcid.org/0000-0001-8727-6592] comment: Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli. synonym: "Multiple bilateral CHRPE" EXACT abbreviation [] xref: UMLS:C4021144 is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:25:33Z [Term] id: HP:0011530 name: Retinal hole def: "A small break in the retina." [https://orcid.org/0000-0002-0736-9199] comment: A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field. synonym: "Retinal holes" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:232003005 xref: SNOMEDCT_US:302888003 xref: SNOMEDCT_US:40024006 xref: SNOMEDCT_US:95690009 xref: UMLS:C0035321 is_a: HP:0011958 ! Retinal perforation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-06T09:39:01Z [Term] id: HP:0011531 name: Vitritis def: "Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hyalitis" EXACT [] synonym: "Vitreitis" EXACT [] xref: SNOMEDCT_US:95802009 xref: UMLS:C0235812 is_a: HP:0004327 ! Abnormal vitreous humor morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T08:21:01Z [Term] id: HP:0011532 name: Subretinal exudate def: "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:247156002 xref: UMLS:C0423431 is_a: HP:0001147 ! Retinal exudate property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T09:21:46Z [Term] id: HP:0011533 name: Snowflake vitreoretinal degeneration def: "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous." [HPO_CONTRIBUTOR:DDD_ncarter, PMID:18179896] synonym: "Snowflake retinal degeneration" EXACT [] xref: UMLS:C1860405 is_a: HP:0007769 ! Peripheral retinal degeneration is_a: HP:0007773 ! Vitreoretinopathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T09:52:37Z [Term] id: HP:0011534 name: Abnormal spatial orientation of the cardiac segments def: "Abnormality of the spatial relationship of the cardiac segments to other components of the heart." [] xref: UMLS:C4023313 is_a: HP:0001627 ! Abnormal heart morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:27:48Z [Term] id: HP:0011535 name: Abnormal atrial arrangement def: "Abnormality of the spatial relationship of the atria to other components of the heart." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Abnormal location of heart atrium" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:445898001 xref: UMLS:C2959688 is_a: HP:0005120 ! Abnormal cardiac atrium morphology is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:31:16Z [Term] id: HP:0011536 name: Right atrial isomerism def: "Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:3408620] xref: UMLS:C3178806 is_a: HP:0011535 ! Abnormal atrial arrangement is_a: HP:0031855 ! Right isomerism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:36:52Z [Term] id: HP:0011537 name: Left atrial isomerism def: "In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:3408620] comment: Left and right hand side atria have left atrial morphology. xref: EPCC:03.01.05 xref: ICD-10:Q20.6 xref: UMLS:C3178807 is_a: HP:0011535 ! Abnormal atrial arrangement is_a: HP:0031854 ! Left Isomerism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:37:51Z [Term] id: HP:0011538 name: Atrial situs inversus def: "Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side." [HPO_CONTRIBUTOR:DDD_dbrown] xref: EPCC:03.01.03 xref: Fyler:0150 xref: Fyler:150 xref: ICD-10:Q89.3 xref: UMLS:C4023312 is_a: HP:0011535 ! Abnormal atrial arrangement property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:40:16Z [Term] id: HP:0011539 name: Atrial situs ambiguous def: "Common atrium without defining morphologic features." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Atrial heterotaxy" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Atrial situs ambiguus" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:448681000 xref: UMLS:C3164429 is_a: HP:0011535 ! Abnormal atrial arrangement property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:43:42Z [Term] id: HP:0011540 name: Congenitally corrected transposition of the great arteries alt_id: HP:0011605 def: "The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:21569592, PMID:27777298, PMID:32274202] synonym: "Atrioventricular and ventriculo-arterial discordance" EXACT [] synonym: "ccTGA" EXACT abbreviation [] synonym: "ccTGV" EXACT abbreviation [] synonym: "Congenitally corrected TGA" EXACT [] synonym: "cTGA" EXACT abbreviation [] synonym: "cTGV" EXACT abbreviation [] synonym: "Discordant atrioventricular a ventriculo-arterial connections" EXACT [] synonym: "L-transposition" RELATED [] synonym: "Physiologically corrected transposition of the great vessels" EXACT [] synonym: "Ventricular inversion" RELATED [] xref: EPCC:01.01.03 xref: ICD-10:Q20.5 xref: SNOMEDCT_US:56743000 xref: SNOMEDCT_US:83799000 xref: UMLS:C0232301 xref: UMLS:C0344616 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments is_a: HP:0011603 ! Congenital malformation of the great arteries property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:48:56Z [Term] id: HP:0011541 name: Criss-cross atrioventricular valves def: "Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023310 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:51:57Z [Term] id: HP:0011542 name: Criss-cross atrioventricular valves with superior-inferior ventricles def: "Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side." [PMID:11789809] xref: UMLS:C4023309 is_a: HP:0011541 ! Criss-cross atrioventricular valves property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:55:06Z [Term] id: HP:0011543 name: Superior-inferior ventricles without criss-cross atrioventricular valves xref: Fyler:0184 xref: Fyler:184 xref: UMLS:C4023308 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T10:56:21Z [Term] id: HP:0011544 name: L-looping of the right ventricle xref: UMLS:C4023307 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:20:04Z [Term] id: HP:0011545 name: Abnormal connection of the cardiac segments def: "A deviance in the normal connections between two cardiac segments." [PMID:24876921] synonym: "Abnormal connexion of the cardiac segments" EXACT uk_spelling [] synonym: "Discordant connection of the cardiac segments" EXACT [] xref: UMLS:C4023306 is_a: HP:0001627 ! Abnormal heart morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:24:25Z [Term] id: HP:0011546 name: Abnormal atrioventricular connection def: "An abnormality of the circulatory connection between atria and ventricles." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Abnormal atrioventricular connexion" EXACT uk_spelling [] xref: SNOMEDCT_US:253274005 xref: UMLS:C0344612 is_a: HP:0011545 ! Abnormal connection of the cardiac segments property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:27:57Z [Term] id: HP:0011547 name: Absent left sided atrioventricular connection def: "A defect where there is no connection between the left atrium and left ventricle." [PMID:7104116] synonym: "Absent left sided atrioventricular connexion" EXACT uk_spelling [] xref: SNOMEDCT_US:253290005 xref: UMLS:C0344629 is_a: HP:0011546 ! Abnormal atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:30:16Z [Term] id: HP:0011548 name: Absent right sided atrioventricular connection def: "A defect where there is no connection between the right atrium and right ventricle." [PMID:7104116] synonym: "Absent right sided atrioventricular connexion" EXACT uk_spelling [] xref: SNOMEDCT_US:253285007 xref: UMLS:C0344624 is_a: HP:0011546 ! Abnormal atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:30:44Z [Term] id: HP:0011549 name: Univentricular heart with absent left sided atrioventricular connection synonym: "Univentricular heart with absent left sided atrioventricular connexion" EXACT uk_spelling [] xref: UMLS:C4023305 is_a: HP:0011547 ! Absent left sided atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:31:18Z [Term] id: HP:0011550 name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection xref: UMLS:C4023304 is_a: HP:0011547 ! Absent left sided atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:32:09Z [Term] id: HP:0011551 name: Right sided atrium to left ventricle and absent left sided atrioventricular connection synonym: "Right sided atrium to left ventricle and absent left sided atrioventricular connexion" EXACT uk_spelling [] xref: UMLS:C4023303 is_a: HP:0011547 ! Absent left sided atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:32:53Z [Term] id: HP:0011552 name: Ambiguous atrioventricular connection def: "With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle)." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Ambiguous atrioventricular connexion" EXACT uk_spelling [] xref: SNOMEDCT_US:253278008 xref: UMLS:C0344617 is_a: HP:0011546 ! Abnormal atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:33:24Z [Term] id: HP:0011553 name: Discordant atrioventricular connection def: "Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:23804932] synonym: "Discordant atrioventricular connexion" EXACT uk_spelling [] xref: SNOMEDCT_US:253277003 xref: UMLS:C0344615 is_a: HP:0011546 ! Abnormal atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:47:06Z [Term] id: HP:0011554 name: Double inlet atrioventricular connection def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Double inlet atrioventricular connexion" EXACT uk_spelling [] xref: EPCC:01.01.14 xref: ICD-10:Q20.4 xref: UMLS:C4023302 is_a: HP:0011546 ! Abnormal atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:49:32Z [Term] id: HP:0011555 name: Double inlet left ventricle def: "The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: EPCC:01.04.04 xref: ICD-10:Q20.4 xref: SNOMEDCT_US:253283000 xref: UMLS:C0344622 is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:53:33Z [Term] id: HP:0011556 name: Double inlet right ventricle def: "The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: EPCC:01.04.03 xref: ICD-10:Q20.4 xref: SNOMEDCT_US:253282005 xref: UMLS:C0344621 is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T11:57:14Z [Term] id: HP:0011557 name: Double inlet to single ventricle of indeterminate morphology def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023301 is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T12:00:21Z [Term] id: HP:0011558 name: Double inlet to single ventricle with common atrioventricular orifice xref: UMLS:C4023300 is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T12:02:03Z [Term] id: HP:0011559 name: Double inlet to single ventricle with two atrioventricular valves xref: UMLS:C4023299 is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T12:02:15Z [Term] id: HP:0011560 name: Mitral atresia def: "A congenital defect with failure to open of the mitral valve orifice." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Mitral valve atresia" EXACT [] xref: EPCC:06.02.01 xref: Fyler:0310 xref: Fyler:310 xref: ICD-10:Q23.2 xref: SNOMEDCT_US:23063005 xref: UMLS:C0344760 is_a: HP:0001633 ! Abnormal mitral valve morphology is_a: HP:0011546 ! Abnormal atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T12:04:11Z [Term] id: HP:0011561 name: Overriding atrioventricular valve def: "An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:7295418] comment: Straddling and overriding atrioventricular valves usually occur in combination. xref: UMLS:C4023298 is_a: HP:0011546 ! Abnormal atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T12:09:28Z [Term] id: HP:0011562 name: Straddling atrioventricular valve def: "Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:7295418] comment: Straddling and overriding atrioventricular valves usually occur in combination. xref: UMLS:C4023297 is_a: HP:0011546 ! Abnormal atrioventricular connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-07T12:13:57Z [Term] id: HP:0011563 name: Abnormal ventriculoarterial connection def: "An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta." [PMID:15227248, PMID:18805185, PMID:24750982] comment: The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. synonym: "Abnormal ventriculo-arterial connection" EXACT [] synonym: "Abnormal ventriculoarterial connexion" EXACT uk_spelling [] xref: UMLS:C4023296 is_a: HP:0011545 ! Abnormal connection of the cardiac segments property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T07:32:38Z [Term] id: HP:0011564 name: Mitral valve arcade def: "Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20404264] synonym: "Hammock mitral valve" EXACT [] xref: UMLS:C4021143 is_a: HP:0001633 ! Abnormal mitral valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:03:28Z [Term] id: HP:0011565 name: Common atrium def: "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Single atrium" EXACT [https://orcid.org/0000-0001-6908-9849] xref: Fyler:1140 xref: ICD-10:Q21.2 xref: SNOMEDCT_US:253276007 xref: UMLS:C0392482 is_a: HP:0005120 ! Abnormal cardiac atrium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T07:50:05Z [Term] id: HP:0011566 name: Cor triatriatum dexter def: "A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:17948095] comment: Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side. synonym: "Cor triatriatum dextrum" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:2854 xref: SNOMEDCT_US:274947007 xref: UMLS:C0344697 is_a: HP:0010774 ! Cor triatriatum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T08:02:56Z [Term] id: HP:0011567 name: Sinus venosus atrial septal defect def: "An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:16172274] xref: Fyler:2010 xref: ICD-10:Q21.1 xref: SNOMEDCT_US:95268002 xref: UMLS:C0344730 is_a: HP:0001631 ! Atrial septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T08:15:24Z [Term] id: HP:0011568 name: Double orifice mitral valve def: "The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:20851840] comment: In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal. xref: SNOMEDCT_US:253402005 xref: UMLS:C0344770 is_a: HP:0001633 ! Abnormal mitral valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T08:29:48Z [Term] id: HP:0011569 name: Cleft anterior mitral valve leaflet def: "Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:6829465] xref: UMLS:C4023295 is_a: HP:0031480 ! Abnormal mitral valve leaflet morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T08:40:46Z [Term] id: HP:0011570 name: Congenital mitral stenosis def: "Mitral stenosis with congenital onset." [HPO_CONTRIBUTOR:DDD_dbrown] xref: SNOMEDCT_US:82458004 xref: UMLS:C0158618 is_a: HP:0001718 ! Mitral stenosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T08:46:46Z [Term] id: HP:0011571 name: Parachute mitral valve def: "Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles." [HPO_CONTRIBUTOR:DDD_dbrown] xref: SNOMEDCT_US:204362007 xref: UMLS:C0546965 is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T08:47:46Z [Term] id: HP:0011572 name: Supramitral ring def: "A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Membranous supravalvular mitral stenosis" EXACT [] synonym: "Supravalvular mitral ring" EXACT [] xref: UMLS:C4021142 is_a: HP:0001633 ! Abnormal mitral valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T08:49:07Z [Term] id: HP:0011573 name: Hypoplastic tricuspid valve def: "Congenital defect characterized by underdevelopment of the tricuspid valve." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Tricuspid valve hypoplasia" EXACT [] synonym: "Underdeveloped tricuspid valve" EXACT [https://orcid.org/0000-0001-6908-9849] xref: Fyler:1720 xref: UMLS:C4023294 is_a: HP:0001702 ! Abnormal tricuspid valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:22:38Z [Term] id: HP:0011574 name: Imperforate atrioventricular valve def: "An atrioventricular valve that has failed to open (atretic)." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Unopened atrioventricular valve" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4023293 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:35:25Z [Term] id: HP:0011575 name: Imperforate tricuspid valve def: "A tricuspid valve that has failed to open." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:7066117] comment: Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography. synonym: "Unopened tricuspid valve" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4023292 is_a: HP:0001702 ! Abnormal tricuspid valve morphology is_a: HP:0011574 ! Imperforate atrioventricular valve property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:37:55Z [Term] id: HP:0011576 name: Intermediate atrioventricular canal defect def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Intermediate atrioventricular septal defect" EXACT [] xref: Fyler:1121 xref: UMLS:C4023291 is_a: HP:0006695 ! Atrioventricular canal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:56:04Z [Term] id: HP:0011577 name: Partial atrioventricular canal defect def: "A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Incomplete atrioventricular septal defect" EXACT [] synonym: "Incomplete AVSD" EXACT abbreviation [] synonym: "Partial atrioventricular septal defect" EXACT [] synonym: "Partial AVC defect" EXACT abbreviation [] synonym: "Partial AVSD" EXACT abbreviation [] synonym: "PAVSD" EXACT abbreviation [] xref: SNOMEDCT_US:718216009 xref: UMLS:C4023290 is_a: HP:0006695 ! Atrioventricular canal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:57:14Z [Term] id: HP:0011578 name: Transitional atrioventricular canal defect def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023289 is_a: HP:0006695 ! Atrioventricular canal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:58:47Z [Term] id: HP:0011579 name: Unbalanced atrioventricular canal defect def: "Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20837915] synonym: "AVC defect unbalanced" EXACT abbreviation [] synonym: "AVC unbalanced" EXACT abbreviation [] synonym: "Unbalanced atrioventricular septal defect" EXACT [] synonym: "Unbalanced AVC" EXACT abbreviation [] synonym: "Unbalanced AVC defect" EXACT abbreviation [] synonym: "Unbalanced AVSD" EXACT abbreviation [] xref: UMLS:C3280940 is_a: HP:0006695 ! Atrioventricular canal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T11:02:44Z [Term] id: HP:0011580 name: Short chordae tendineae of the mitral valve def: "Abnormally short chordae tendineae of the mitral valve." [https://orcid.org/0000-0002-0736-9199] comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart. xref: UMLS:C4023288 is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T12:01:44Z [Term] id: HP:0011581 name: Double outlet left ventricle def: "A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:0650 xref: Fyler:650 xref: ICD-10:Q20.2 xref: SNOMEDCT_US:7368005 xref: UMLS:C0265809 is_a: HP:0001711 ! Abnormal left ventricle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T12:37:48Z [Term] id: HP:0011582 name: Abdominal ectopia cordis def: "Displacement of the heart outside the thoracic cavity and into the abdomen." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023287 is_a: HP:0001683 ! Ectopia cordis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:10:32Z [Term] id: HP:0011583 name: Cervical ectopia cordis def: "A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck. xref: UMLS:C4023286 is_a: HP:0001683 ! Ectopia cordis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:11:40Z [Term] id: HP:0011584 name: Thoracocervical ectopia cordis def: "A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023285 is_a: HP:0001683 ! Ectopia cordis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:12:42Z [Term] id: HP:0011585 name: Thoracic ectopia cordis def: "Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023284 is_a: HP:0001683 ! Ectopia cordis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:13:18Z [Term] id: HP:0011586 name: Thoracoabdominal ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:19479716] comment: In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell. xref: UMLS:C4023283 is_a: HP:0001683 ! Ectopia cordis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:13:52Z [Term] id: HP:0011587 name: Abnormal branching pattern of the aortic arch def: "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries." [HPO_CONTRIBUTOR:DDD_dbrown] comment: The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and esophagus by vascular structures is a vascular ring. xref: UMLS:C4023282 is_a: HP:0012303 ! Abnormal aortic arch morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:34:42Z [Term] id: HP:0011588 name: Cervical aortic arch def: "The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta." [HPO_CONTRIBUTOR:DDD_dbrown] xref: SNOMEDCT_US:253657003 xref: UMLS:C0345065 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:37:51Z [Term] id: HP:0011589 name: Common origin of the right brachiocephalic artery and left common carotid artery def: "The left common carotid artery has a common origin with the innominate artery." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:17138027] comment: Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery. synonym: "Bovine arch" RELATED [] synonym: "Common brachiocephalic trunk" EXACT [] synonym: "Ovine arch" RELATED [] xref: SNOMEDCT_US:460890003 xref: UMLS:C3532020 xref: UMLS:C4020746 xref: UMLS:C4021141 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:38:36Z [Term] id: HP:0011590 name: Double aortic arch def: "A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor)." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:15148283, PMID:15564538] xref: Fyler:2761 xref: SNOMEDCT_US:10451007 xref: UMLS:C0265883 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:46:10Z [Term] id: HP:0011591 name: Left aortic arch with cervical origin of the right subclavian artery xref: UMLS:C4023281 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T01:57:40Z [Term] id: HP:0011592 name: Left aortic arch with isolated subclavian artery def: "The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023280 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:01:39Z [Term] id: HP:0011593 name: Left aortic arch with retroesophageal diverticulum of Kommerell def: "A patent ductus arteriosus or ductal ligament completes the ring." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Kommerell diverticulum" EXACT [] xref: SNOMEDCT_US:74561007 xref: UMLS:C0265885 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:02:42Z [Term] id: HP:0011594 name: Right aortic arch with retroesophageal diverticulum of Kommerell def: "Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:12075866] xref: UMLS:C4023279 is_a: HP:0012020 ! Right aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:07:10Z [Term] id: HP:0011595 name: Left aortic arch with retroesophageal right subclavian artery def: "Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023278 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:09:39Z [Term] id: HP:0011596 name: Left aortic arch with right descending aorta and right ductus arteriosus def: "The ring may be completed by the ductal ligament." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023277 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:10:48Z [Term] id: HP:0011597 name: Right aortic arch with left descending aorta and left ductus arteriosus xref: UMLS:C4023276 is_a: HP:0012020 ! Right aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:23:47Z [Term] id: HP:0011598 name: Right aortic arch with retroesophageal left subclavian artery synonym: "Right aortic arch with aberrant left subclavian artery" EXACT [] synonym: "Right aortic arch with anomalous left subclavian artery" EXACT [] xref: UMLS:C4021140 is_a: HP:0012020 ! Right aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:27:16Z [Term] id: HP:0011599 name: Mesocardia def: "Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: Fyler:0140 xref: Fyler:140 xref: SNOMEDCT_US:16567006 xref: UMLS:C0265865 is_a: HP:0004307 ! Abnormal anatomic location of the heart property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:41:36Z [Term] id: HP:0011600 name: Abnormal direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex. Left sided is normal." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023275 is_a: HP:0004307 ! Abnormal anatomic location of the heart property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:44:41Z [Term] id: HP:0011601 name: Rightward direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023274 is_a: HP:0011600 ! Abnormal direction of ventricular apex property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:46:32Z [Term] id: HP:0011602 name: Midline direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023273 is_a: HP:0011600 ! Abnormal direction of ventricular apex property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:47:52Z [Term] id: HP:0011603 name: Congenital malformation of the great arteries def: "Defect or defects of the morphogenesis of the aorta and pulmonary arteries." [] xref: UMLS:C0478012 is_a: HP:0030962 ! Abnormal morphology of the great vessels property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:51:09Z [Term] id: HP:0011604 name: Aortopulmonary window def: "A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: Fyler:0560 xref: Fyler:560 xref: SNOMEDCT_US:17024001 xref: UMLS:C0003516 is_a: HP:0011603 ! Congenital malformation of the great arteries property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T02:52:38Z [Term] id: HP:0011605 name: obsolete Congenitally corrected transposition of the great arteries with ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0011540 creation_date: 2012-04-08T02:55:06Z [Term] id: HP:0011606 name: obsolete Transposition of the great arteries with intact ventricular septum is_obsolete: true consider: HP:0001669 [Term] id: HP:0011607 name: obsolete Transposition of the great arteries with ventricular septal defect is_obsolete: true consider: HP:0001669 [Term] id: HP:0011608 name: Type II truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type II" EXACT [] synonym: "Type 2 truncus arteriosus" EXACT [] xref: Fyler:0520 xref: Fyler:520 xref: UMLS:C4021137 is_a: HP:0001660 ! Truncus arteriosus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T03:03:51Z [Term] id: HP:0011609 name: Type III truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type III" EXACT [] synonym: "Type 3 truncus arteriosus" EXACT [] xref: Fyler:0530 xref: Fyler:530 xref: UMLS:C4021136 is_a: HP:0001660 ! Truncus arteriosus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T03:08:53Z [Term] id: HP:0011610 name: Type IV truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type IV" EXACT [] synonym: "Type 4 truncus arteriosus" EXACT [] xref: Fyler:0540 xref: Fyler:540 xref: UMLS:C4021135 is_a: HP:0001660 ! Truncus arteriosus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T03:11:07Z [Term] id: HP:0011611 name: Interrupted aortic arch alt_id: HP:0006680 def: "Non-continuity of the arch of aorta with an atretic point or absent segment." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Aortic arch obstruction" RELATED [] synonym: "Atretic transverse aortic arch" EXACT [] xref: Fyler:1241 xref: Fyler:1250 xref: SNOMEDCT_US:218728005 xref: UMLS:C0152419 is_a: HP:0012303 ! Abnormal aortic arch morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T03:17:10Z [Term] id: HP:0011612 name: Interrupted aortic arch type A def: "Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus." [HPO_CONTRIBUTOR:DDD_dbrown] xref: SNOMEDCT_US:253681005 xref: UMLS:C0345092 is_a: HP:0011611 ! Interrupted aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T03:18:18Z [Term] id: HP:0011613 name: Interrupted aortic arch type B def: "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Interrupted aortic arch, type b" EXACT [] xref: Fyler:1252 xref: SNOMEDCT_US:253682003 xref: UMLS:C0345093 is_a: HP:0011611 ! Interrupted aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T03:18:58Z [Term] id: HP:0011614 name: Interrupted aortic arch type C def: "Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries." [HPO_CONTRIBUTOR:DDD_dbrown] xref: SNOMEDCT_US:253683008 xref: UMLS:C0345094 is_a: HP:0011611 ! Interrupted aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T03:19:48Z [Term] id: HP:0011615 name: Abnormal pulmonary situs morphology def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Abnormality of pulmonary situs" EXACT [] xref: UMLS:C4023271 is_a: HP:4000059 ! Abnormal lung development property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:20:13Z [Term] id: HP:0011616 name: Pulmonary situs inversus def: "Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023270 is_a: HP:0011615 ! Abnormal pulmonary situs morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:23:21Z [Term] id: HP:0011617 name: Pulmonary situs ambiguus def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023269 is_a: HP:0011615 ! Abnormal pulmonary situs morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:24:21Z [Term] id: HP:0011618 name: Pulmonary situs ambiguus with bilateral morphologic right lungs def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023268 is_a: HP:0011617 ! Pulmonary situs ambiguus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:25:35Z [Term] id: HP:0011619 name: Pulmonary situs ambiguus with bilateral morphologic left lungs def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023267 is_a: HP:0011617 ! Pulmonary situs ambiguus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:26:18Z [Term] id: HP:0011620 name: Abnormality of abdominal situs def: "An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023266 is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0030853 ! Heterotaxy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:30:05Z [Term] id: HP:0011621 name: Gerbode ventricular septal defect def: "A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:19561249] comment: Echocardiography may visualize a jet across a small defect between left ventricle and right atrium. synonym: "Left ventricular - right atrial communication" RELATED [] xref: SNOMEDCT_US:41893002 xref: UMLS:C0265812 xref: UMLS:C4023265 is_a: HP:0001629 ! Ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:34:01Z [Term] id: HP:0011622 name: Inlet ventricular septal defect def: "A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17101870] comment: The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically. synonym: "Atrioventricular canal type ventricular septal defect" EXACT [] synonym: "Type 3 ventricular septal defect" EXACT [] xref: Fyler:1340 is_a: HP:0001629 ! Ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:38:29Z [Term] id: HP:0011623 name: Muscular ventricular septal defect def: "The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17101870] synonym: "Type 4 ventricular septal defect" EXACT [] synonym: "Ventricular septal defect, muscular" RELATED [https://orcid.org/0000-0002-5316-1399] xref: Fyler:1320 xref: SNOMEDCT_US:94706008 xref: UMLS:C0685707 is_a: HP:0001629 ! Ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:43:15Z [Term] id: HP:0011624 name: Apical muscular ventricular septal defect def: "A muscular ventricular septal defect located at the apex of the heart." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023264 is_a: HP:0011623 ! Muscular ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:45:43Z [Term] id: HP:0011625 name: Multiple muscular ventricular septal defects def: "A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum." [PMID:22718060] synonym: "Swiss cheese ventricular septal defect" EXACT [] xref: UMLS:C4023263 is_a: HP:0011623 ! Muscular ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:49:03Z [Term] id: HP:0011626 name: Scimitar anomaly def: "Right pulmonary venous return to the inferior vena cava." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:16638549] synonym: "Pulmonary venolobar syndrome" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Scimitar syndrome" EXACT [] xref: ICD-10:Q26.8 xref: SNOMEDCT_US:111323005 xref: SNOMEDCT_US:39905002 xref: UMLS:C0036400 is_a: HP:0010773 ! Partial anomalous pulmonary venous return property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T09:57:11Z [Term] id: HP:0011627 name: Aorto-ventricular tunnel def: "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." [PMID:17922908] xref: UMLS:C4023262 is_a: HP:0001679 ! Abnormal aortic morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T08:29:49Z [Term] id: HP:0011628 name: Congenital defect of the pericardium def: "A developmental defect of the pericardium with congenital onset." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023261 is_a: HP:0001697 ! Abnormal pericardium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:05:20Z [Term] id: HP:0011629 name: Total absence of the pericardium def: "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Absent pericardium" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Congenital absence of the pericardium" EXACT [https://orcid.org/0000-0001-6908-9849] xref: Fyler:1910 xref: SNOMEDCT_US:253732001 xref: UMLS:C0345140 is_a: HP:0011628 ! Congenital defect of the pericardium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:06:22Z [Term] id: HP:0011630 name: Complete diaphragmatic absence of pericardium def: "No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023259 is_a: HP:0011628 ! Congenital defect of the pericardium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:06:57Z [Term] id: HP:0011631 name: Complete right sided absence of pericardium def: "No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023258 is_a: HP:0011628 ! Congenital defect of the pericardium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:08:42Z [Term] id: HP:0011632 name: Partial right sided absence of pericardium def: "A congenital anomaly with lack of part of the pericardium on the righthand side of the heart." [HPO_CONTRIBUTOR:DDD_dbrown] comment: A congenital anomaly and not the result of a pericardectomy. xref: UMLS:C4023257 is_a: HP:0011628 ! Congenital defect of the pericardium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:09:24Z [Term] id: HP:0011633 name: Complete left sided absence of pericardium def: "A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart." [HPO_CONTRIBUTOR:DDD_dbrown] comment: A congenital anomaly and not the result of a pericardectomy. synonym: "Absent lining around of left side of heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023256 is_a: HP:0011628 ! Congenital defect of the pericardium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:11:03Z [Term] id: HP:0011634 name: Partial left sided absence of pericardium def: "A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart." [HPO_CONTRIBUTOR:DDD_dbrown] comment: A congenital anomaly and not the result of a pericardectomy. xref: UMLS:C4023255 is_a: HP:0011628 ! Congenital defect of the pericardium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:11:59Z [Term] id: HP:0011635 name: Partial diaphragmatic absence of pericardium def: "Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023254 is_a: HP:0011628 ! Congenital defect of the pericardium property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-08T10:13:04Z [Term] id: HP:0011636 name: Abnormal coronary artery origin def: "Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023253 is_a: HP:0006704 ! Abnormal coronary artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T08:32:24Z [Term] id: HP:0011637 name: Anomalous origin of coronary artery from the pulmonary artery def: "A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023252 is_a: HP:0011636 ! Abnormal coronary artery origin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T08:33:57Z [Term] id: HP:0011638 name: Anomalous origin of left coronary artery from the pulmonary artery def: "Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:27358682] comment: In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins. synonym: "ALCAPA" EXACT abbreviation [] synonym: "Anomalous left coronary artery from the pulmonary artery" EXACT [] synonym: "Bland-Garland-White syndrome" EXACT [] xref: Fyler:3101 xref: SNOMEDCT_US:450301003 xref: UMLS:C3472166 is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T08:40:53Z [Term] id: HP:0011639 name: Anomalous origin of right coronary artery from the pulmonary artery def: "Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:450300002 xref: UMLS:C3472165 is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T08:41:05Z [Term] id: HP:0011640 name: Single coronary artery origin def: "The presence of a single coronary artery ostium from which both coronary arteries arise." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:4547578] xref: UMLS:C4023251 is_a: HP:0011636 ! Abnormal coronary artery origin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T08:44:38Z [Term] id: HP:0011641 name: Coronary artery fistula def: "A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:20513726] comment: Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas. synonym: "Coronary fistula" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:2230 xref: SNOMEDCT_US:373093003 xref: UMLS:C0265898 is_a: HP:0011686 ! Abnormal coronary artery course property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T08:54:51Z [Term] id: HP:0011642 name: Abnormal coronary sinus morphology def: "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the coronary sinus" EXACT [] xref: Fyler:2840 xref: SNOMEDCT_US:253323000 xref: UMLS:C0344680 is_a: HP:0005120 ! Abnormal cardiac atrium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T09:02:09Z [Term] id: HP:0011643 name: Coronary sinus atrial septal defect def: "An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:18806021] xref: ICD-10:Q21.1 xref: UMLS:C2063331 is_a: HP:0011642 ! Abnormal coronary sinus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T09:07:42Z [Term] id: HP:0011644 name: Coronary sinus diverticulum def: "A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:3138904] synonym: "Diverticulum of the coronary sinus" EXACT [] xref: SNOMEDCT_US:447661004 xref: UMLS:C3163894 is_a: HP:0011642 ! Abnormal coronary sinus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T09:12:28Z [Term] id: HP:0011645 name: Dilatation of the sinus of Valsalva def: "Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve." [] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm of the aortic sinus" NARROW [https://orcid.org/0000-0001-6908-9849] synonym: "Aortic sinus aneurysm" EXACT [] synonym: "Sinus of Valsalva aneurysm" NARROW [] xref: Fyler:2316 xref: SNOMEDCT_US:54160000 xref: UMLS:C2239253 is_a: HP:0004970 ! Ascending tubular aorta aneurysm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T09:31:57Z [Term] id: HP:0011646 name: Juxtaductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: Juxtaductal coarctation usually presents when the ductus arteriosus closes. xref: UMLS:C4023250 is_a: HP:0012305 ! Coarctation of the descending aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T09:41:05Z [Term] id: HP:0011647 name: Postductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch." [HPO_CONTRIBUTOR:DDD_dbrown] comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. synonym: "Postductal aortic coarctation" EXACT [] xref: SNOMEDCT_US:72242008 xref: UMLS:C0265879 is_a: HP:0012305 ! Coarctation of the descending aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T09:49:36Z [Term] id: HP:0011648 name: Patent ductus arteriosus after birth at term def: "Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023249 is_a: HP:0001643 ! Patent ductus arteriosus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T09:58:35Z [Term] id: HP:0011649 name: Patent ductus arteriosus after premature birth def: "Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation." [HPO_CONTRIBUTOR:DDD_dbrown] xref: UMLS:C4023248 is_a: HP:0001643 ! Patent ductus arteriosus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T09:59:59Z [Term] id: HP:0011650 name: Bilateral ductus arteriosus def: "The presence of both a left and a right ductus arteriosus." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Bilateral ductus botalli" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:461093009 xref: UMLS:C0431501 is_a: HP:0001643 ! Patent ductus arteriosus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:00:51Z [Term] id: HP:0011651 name: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis def: "A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with doubly committed VSD and pulmonary stenosis" EXACT [PMID:6193702] xref: SNOMEDCT_US:448516008 xref: UMLS:C3165091 is_a: HP:0001719 ! Double outlet right ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:02:22Z [Term] id: HP:0011652 name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis def: "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with doubly committed VSD" EXACT [PMID:10798433] synonym: "Double outlet right ventricle, doubly committed ventricular septal defect" EXACT [] xref: Fyler:0604 xref: Fyler:604 xref: UMLS:C4023247 is_a: HP:0001719 ! Double outlet right ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:05:46Z [Term] id: HP:0011653 name: Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853] synonym: "DORV with non-committed VSD and pulmonary stenosis" EXACT [] xref: UMLS:C4023246 is_a: HP:0001719 ! Double outlet right ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:06:15Z [Term] id: HP:0011654 name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853] synonym: "DORV with non-committed VSD without pulmonary stenosis" EXACT [] synonym: "Double outlet right ventricle, noncommitted ventricular septal defect" EXACT [] xref: Fyler:0603 xref: Fyler:603 xref: UMLS:C4023245 is_a: HP:0001719 ! Double outlet right ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:06:32Z [Term] id: HP:0011655 name: Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with subaortic VSD and pulmonary stenosis" EXACT [] xref: UMLS:C4023244 is_a: HP:0001719 ! Double outlet right ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:06:46Z [Term] id: HP:0011656 name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with subaortic VSD without pulmonary stenosis" EXACT [] xref: UMLS:C4023243 is_a: HP:0001719 ! Double outlet right ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:07:00Z [Term] id: HP:0011657 name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with subpulmonary VSD and pulmonary stenosis" EXACT [] xref: UMLS:C4023242 is_a: HP:0001719 ! Double outlet right ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:07:16Z [Term] id: HP:0011658 name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:20069085, PMID:6193702] synonym: "DORV with subpulmonary VSD without pulmonary stenosis" EXACT abbreviation [] synonym: "Taussig-Bing anomaly" EXACT [] xref: UMLS:C4023241 is_a: HP:0001719 ! Double outlet right ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:07:31Z [Term] id: HP:0011659 name: Tetralogy of Fallot with absent pulmonary valve def: "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Tetralogy of Fallot with absent pulmonary valve syndrome" EXACT [] xref: SNOMEDCT_US:399228007 xref: UMLS:C1302264 is_a: HP:0001636 ! Tetralogy of Fallot is_a: HP:0005134 ! Absence of the pulmonary valve property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:15:04Z [Term] id: HP:0011660 name: Anomalous origin of one pulmonary artery from ascending aorta def: "Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:2590592] comment: Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle. synonym: "Hemitruncus" EXACT [] xref: Fyler:0550 xref: Fyler:550 xref: UMLS:C4021134 is_a: HP:0030966 ! Abnormal pulmonary artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:34:29Z [Term] id: HP:0011661 name: Anomalous origin of left pulmonary artery from ascending aorta def: "The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [HPO_CONTRIBUTOR:DDD_dbrown] xref: SNOMEDCT_US:253637002 xref: UMLS:C0345040 is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:42:23Z [Term] id: HP:0011662 name: Tricuspid atresia def: "Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Tricuspid valve atresia" EXACT [https://orcid.org/0000-0001-5208-3432] xref: EPCC:06.01.01 xref: Fyler:0400 xref: Fyler:400 xref: ICD-10:Q22.4 xref: SNOMEDCT_US:253455004 xref: SNOMEDCT_US:63042009 xref: UMLS:C0243002 is_a: HP:0001702 ! Abnormal tricuspid valve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T10:45:29Z [Term] id: HP:0011663 name: Right ventricular cardiomyopathy def: "Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease." [https://orcid.org/0000-0002-0736-9199, PMID:17916581] comment: This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria. synonym: "Cardiomyopathy, esp. right ventricular" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Cardiomyopathy, right ventricular" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2063326 is_a: HP:0001638 ! Cardiomyopathy is_a: HP:0001707 ! Abnormal right ventricle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T11:14:59Z [Term] id: HP:0011664 name: Left ventricular noncompaction cardiomyopathy def: "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [PMID:17916581] comment: Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development. synonym: "Left ventricular non-compaction cardiomyopathy" EXACT [] xref: UMLS:C4021133 is_a: HP:0012817 ! Noncompaction cardiomyopathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T11:31:40Z [Term] id: HP:0011665 name: Takotsubo cardiomyopathy def: "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." [PMID:17916581] synonym: "Broken-heart syndrome" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:441541008 xref: UMLS:C1739395 is_a: HP:0001638 ! Cardiomyopathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T11:39:40Z [Term] id: HP:0011666 name: Absent right superior vena cava def: "Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17578953, PMID:19808620, PMID:20532458] comment: The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck. xref: SNOMEDCT_US:253308005 xref: UMLS:C0344656 is_a: HP:0005301 ! Persistent left superior vena cava property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T11:43:46Z [Term] id: HP:0011667 name: Bilateral superior vena cava with bridging vein xref: UMLS:C4023240 is_a: HP:0033379 ! Bilateral superior vena cava property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:00:46Z [Term] id: HP:0011668 name: Bilateral superior vena cava with no bridging vein xref: UMLS:C4023239 is_a: HP:0033379 ! Bilateral superior vena cava property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:01:33Z [Term] id: HP:0011669 name: Left superior vena cava draining directly to the left atrium def: "A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt." [PMID:18847480] xref: UMLS:C4023238 is_a: HP:0033379 ! Bilateral superior vena cava property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:02:06Z [Term] id: HP:0011670 name: Left superior vena cava draining to coronary sinus def: "A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence." [PMID:18847480] xref: ICD-10:Q26.1 xref: UMLS:C2677768 is_a: HP:0033379 ! Bilateral superior vena cava property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:02:58Z [Term] id: HP:0011671 name: Interrupted inferior vena cava with azygous continuation def: "Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10550884] xref: ICD-10:26.8 xref: UMLS:C4023237 is_a: HP:0025576 ! Abnormal inferior vena cava morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:04:06Z [Term] id: HP:0011672 name: Cardiac myxoma def: "A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber." [https://orcid.org/0000-0002-0736-9199, PMID:7477198] xref: NCIT:C6577 xref: SNOMEDCT_US:426191007 xref: UMLS:C1960546 is_a: HP:0100544 ! Neoplasm of the heart property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:10:35Z [Term] id: HP:0011673 name: Cardiac hemangioma def: "Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium." [HPO_CONTRIBUTOR:DDD_dbrown] xref: NCIT:C3085 xref: UMLS:C1707298 is_a: HP:0410266 ! Visceral hemangioma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:20:13Z [Term] id: HP:0011674 name: Cardiac teratoma def: "A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone." [https://orcid.org/0000-0002-0736-9199, PMID:17331235] xref: NCIT:C3403 xref: UMLS:C1112387 is_a: HP:0009792 ! Teratoma is_a: HP:0100544 ! Neoplasm of the heart property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:33:29Z [Term] id: HP:0011675 name: Arrhythmia alt_id: HP:0001656 alt_id: HP:0001661 alt_id: HP:0001665 alt_id: HP:0001666 alt_id: HP:0001675 alt_id: HP:0001687 alt_id: HP:0001721 alt_id: HP:0004351 alt_id: HP:0005158 def: "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:19063792] synonym: "Abnormal heart rate" EXACT layperson [] synonym: "Arrhythmias" EXACT [] synonym: "Cardiac arrhythmia" EXACT [] synonym: "Cardiac arrhythmias" EXACT [] synonym: "Cardiac rhythm disturbances" EXACT [] synonym: "Heart rhythm disorders" EXACT layperson [] synonym: "Irregular heart beat" EXACT layperson [] synonym: "Irregular heartbeat" EXACT layperson [] xref: SNOMEDCT_US:102594003 xref: SNOMEDCT_US:44808001 xref: SNOMEDCT_US:698247007 xref: UMLS:C0003811 xref: UMLS:C0264886 xref: UMLS:C0522055 xref: UMLS:C0855329 xref: UMLS:C1832603 xref: UMLS:C1842820 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-09T12:47:32Z [Term] id: HP:0011676 name: Tetralogy of Fallot with absent subarterial conus xref: UMLS:C4023236 is_a: HP:0001636 ! Tetralogy of Fallot property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T07:40:33Z [Term] id: HP:0011677 name: Tetralogy of Fallot with atrioventricular canal defect xref: UMLS:C4023235 is_a: HP:0001636 ! Tetralogy of Fallot property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T07:41:53Z [Term] id: HP:0011678 name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries def: "A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA)." [https://orcid.org/0000-0002-0736-9199, PMID:22368654] comment: Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery. xref: UMLS:C4023234 is_a: HP:0012516 ! Tetralogy of Fallot with pulmonary atresia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T07:43:01Z [Term] id: HP:0011679 name: Tetralogy of Fallot with pulmonary stenosis def: "The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:253512000 xref: UMLS:C0344881 is_a: HP:0001636 ! Tetralogy of Fallot property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T07:44:06Z [Term] id: HP:0011680 name: Single ventricle of indeterminate morphology xref: UMLS:C4023233 is_a: HP:0001750 ! Single ventricle property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T08:02:28Z [Term] id: HP:0011681 name: Subarterial ventricular septal defect def: "A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10798413] synonym: "Conal ventricular septal defect" EXACT [] synonym: "Doubly committed ventricular septal defect" EXACT [] synonym: "Infundibular ventricular septal defect" EXACT [] synonym: "Supracristal ventricular septal defect" EXACT [] synonym: "Type 1 ventricular septal defect" EXACT [] xref: Fyler:1330 xref: SNOMEDCT_US:448876006 xref: UMLS:C3165130 is_a: HP:0001629 ! Ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T08:09:32Z [Term] id: HP:0011682 name: Perimembranous ventricular septal defect def: "A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10798413] synonym: "Conoventricular ventricular septal defect" EXACT [] synonym: "Membranous ventricular septal defect" EXACT [] synonym: "Paramembranous ventricular septal defect" EXACT [] synonym: "Perimembraneous ventricular septal defect" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Type 2 ventricular septal defect" EXACT [] synonym: "Ventricular septal defect, perimembranous" RELATED [https://orcid.org/0000-0002-5316-1399] xref: Fyler:1310 xref: SNOMEDCT_US:109428005 xref: UMLS:C0344925 is_a: HP:0001629 ! Ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T08:21:13Z [Term] id: HP:0011683 name: Restrictive ventricular septal defect def: "Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10798413] comment: This term can be used in addition to another term describing the morphology of a VSD. xref: SNOMEDCT_US:253551005 xref: UMLS:C0344924 is_a: HP:0001629 ! Ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T08:26:59Z [Term] id: HP:0011684 name: Non-restrictive ventricular septal defect def: "Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD." [HPO_CONTRIBUTOR:DDD_dbrown] comment: This term can be used in addition to another term describing the morphology of a VSD. xref: SNOMEDCT_US:373131000 xref: UMLS:C1298817 is_a: HP:0001629 ! Ventricular septal defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T08:29:05Z [Term] id: HP:0011685 name: Infra-aortic superior vena cava def: "The superior vena cava passes below the aortic arch." [HPO_CONTRIBUTOR:DDD_dbrown] comment: The superior vena cava normally crosses superior and anterior to the aorta. xref: UMLS:C4023232 is_a: HP:0025575 ! Abnormal superior vena cava morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T08:36:00Z [Term] id: HP:0011686 name: Abnormal coronary artery course def: "An abnormal path of a coronary artery." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Anomalous coronary artery course" RELATED [] xref: SNOMEDCT_US:253714001 xref: UMLS:C0345122 is_a: HP:0006704 ! Abnormal coronary artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T08:37:35Z [Term] id: HP:0011687 name: AV nodal tachycardia def: "A type of supraventricular tachycardia that originates in the atrioventricular node." [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20733110] synonym: "Atrioventricular nodal tachycardia" EXACT [] synonym: "AV nodal tachycardia" EXACT abbreviation [] xref: UMLS:C0857265 is_a: HP:0004755 ! Supraventricular tachycardia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T08:45:26Z [Term] id: HP:0011688 name: Supraventricular tachycardia with an accessory connection mediated pathway def: "Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism." [PMID:22459483] synonym: "Atrioventricular re-entry tachycardia" EXACT [] synonym: "Supraventricular tachycardia with an accessory connexion mediated pathway" EXACT uk_spelling [] xref: UMLS:C4021132 is_a: HP:0004755 ! Supraventricular tachycardia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:33:56Z [Term] id: HP:0011689 name: Supraventricular tachycardia with a concealed accessory connection def: "Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed because it is not seen on the ECG during sinus rhythm." [PMID:22459483] synonym: "Supraventricular tachycardia with a concealed accessory connexion" EXACT uk_spelling [] xref: UMLS:C4023231 is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:35:31Z [Term] id: HP:0011690 name: Permanent junctional reciprocating tachycardia def: "An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction." [PMID:15831598] xref: SNOMEDCT_US:233904005 xref: UMLS:C0340483 is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:36:06Z [Term] id: HP:0011691 name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall xref: UMLS:C4023230 is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:36:49Z [Term] id: HP:0011692 name: Supraventricular tachycardia with a concealed accessory pathway on the right free wall xref: UMLS:C4023229 is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:37:37Z [Term] id: HP:0011693 name: Supraventricular tachycardia with a concealed accessory pathway on the septum xref: UMLS:C4023228 is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:38:07Z [Term] id: HP:0011694 name: Supraventricular tachycardia with a manifest accessory pathway xref: UMLS:C4023227 is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:38:53Z [Term] id: HP:0011695 name: Cerebellar hemorrhage def: "Hemorrhage into the parenchyma of the cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebellar haemorrhage" EXACT uk_spelling [] xref: SNOMEDCT_US:75038005 xref: UMLS:C0149854 is_a: HP:0002170 ! Intracranial hemorrhage property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:46:25Z [Term] id: HP:0011696 name: Supraventricular tachycardia with a manifest accessory pathway on the left free wall xref: UMLS:C4023226 is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:57:34Z [Term] id: HP:0011697 name: Supraventricular tachycardia with a manifest accessory pathway on the right free wall xref: UMLS:C4023225 is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:59:00Z [Term] id: HP:0011698 name: Supraventricular tachycardia with a manifest accessory pathway on the septum xref: UMLS:C4023224 is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T10:59:45Z [Term] id: HP:0011699 name: Atrial reentry tachycardia xref: UMLS:C4023223 is_a: HP:0001692 ! Atrial arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T11:15:27Z [Term] id: HP:0011700 name: Automatic atrial tachycardia def: "Chronic supraventricular tachycardia predominantly seen in childhood." [PMID:4019927] xref: SNOMEDCT_US:233892002 xref: UMLS:C0039234 is_a: HP:0001692 ! Atrial arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T11:19:33Z [Term] id: HP:0011701 name: Multifocal atrial tachycardia def: "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." [ORPHA:3282] synonym: "Chaotic atrial tachycardia" EXACT [ORPHA:3282, PMID:5451226] synonym: "Ectopic atrial tachycardia" EXACT [] xref: SNOMEDCT_US:49982000 xref: UMLS:C0221158 is_a: HP:0001692 ! Atrial arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T11:20:13Z [Term] id: HP:0011702 name: Abnormal electrophysiology of sinoatrial node origin def: "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:7010 xref: UMLS:C4023222 is_a: HP:0011675 ! Arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T11:22:43Z [Term] id: HP:0011703 name: Sinus tachycardia def: "Heart rate of greater than 100 beats per minute." [] synonym: "Sinus tach" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Sinus tachy" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:11092001 xref: UMLS:C0039239 is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T11:30:45Z [Term] id: HP:0011704 name: Sick sinus syndrome def: "An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress." [PMID:17420362] synonym: "Sinoatrial node disease" EXACT [] xref: SNOMEDCT_US:36083008 xref: UMLS:C0037052 is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin is_a: HP:0012722 ! Heart block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-10T11:31:17Z [Term] id: HP:0011705 name: First degree atrioventricular block def: "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children. xref: SNOMEDCT_US:270492004 xref: UMLS:C0085614 is_a: HP:0001678 ! Atrioventricular block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T07:17:18Z [Term] id: HP:0011706 name: Second degree atrioventricular block def: "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:195042002 xref: UMLS:C0264906 is_a: HP:0001678 ! Atrioventricular block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T07:22:35Z [Term] id: HP:0011707 name: Mobitz I atrioventricular block def: "Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals)." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: Mobitz I atrioventricular block is associated with a normal QRS duration. synonym: "Mobitz type 1 atrioventricular block" EXACT [] synonym: "Wenckebach block" EXACT [] xref: SNOMEDCT_US:54016002 xref: UMLS:C0264907 is_a: HP:0011706 ! Second degree atrioventricular block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T07:25:17Z [Term] id: HP:0011708 name: Mobitz II atrioventricular block def: "A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: Mobitz I atrioventricular block is usually associated with a prolonged QRS duration. synonym: "Mobitz type 2 atrioventricular block" EXACT [] xref: SNOMEDCT_US:28189009 xref: UMLS:C0155700 is_a: HP:0011706 ! Second degree atrioventricular block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T07:34:09Z [Term] id: HP:0011709 name: Atrioventricular dissociation def: "Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance." [https://orcid.org/0000-0002-0736-9199] comment: Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it. xref: SNOMEDCT_US:50799005 xref: UMLS:C0004331 is_a: HP:0005150 ! Abnormal atrioventricular conduction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T07:46:37Z [Term] id: HP:0011710 name: Bundle branch block def: "Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. The Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex. synonym: "Bundle-branch block" EXACT [] xref: SNOMEDCT_US:6374002 xref: UMLS:C0006384 is_a: HP:0012722 ! Heart block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T07:55:50Z [Term] id: HP:0011711 name: Left anterior fascicular block def: "Conduction block in the anterior division of the left bundle branch of the bundle of His." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Left anterior hemiblock" EXACT [] xref: SNOMEDCT_US:37760005 xref: UMLS:C0264912 is_a: HP:0011713 ! Left bundle branch block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:02:03Z [Term] id: HP:0011712 name: Complete right bundle branch block def: "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Right bundle branch block" EXACT [] synonym: "Right bundle-branch block" EXACT [] xref: SNOMEDCT_US:59118001 xref: UMLS:C0085615 is_a: HP:0011710 ! Bundle branch block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:02:08Z [Term] id: HP:0011713 name: Left bundle branch block def: "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:63467002 xref: UMLS:C0023211 is_a: HP:0011710 ! Bundle branch block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:04:34Z [Term] id: HP:0011714 name: Libman-Sacks lesions def: "Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve." [PMID:18421506] comment: Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus. xref: UMLS:C4023221 is_a: HP:0100584 ! Endocarditis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T10:11:39Z [Term] id: HP:0011715 name: Trifascicular block def: "Abnormal conduction in all three divisions of the intraventricular conducting tissue." [HPO_CONTRIBUTOR:DDD_dbrown] xref: SNOMEDCT_US:86014007 xref: UMLS:C0155707 is_a: HP:0011710 ! Bundle branch block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:10:14Z [Term] id: HP:0011716 name: Junctional ectopic tachycardia def: "Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern." [PMID:22826742] xref: SNOMEDCT_US:233901002 xref: SNOMEDCT_US:419166005 xref: UMLS:C0039235 is_a: HP:0011687 ! AV nodal tachycardia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:42:28Z [Term] id: HP:0011717 name: Atrioventricular reentrant tachycardia def: "Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove." [] synonym: "AV nodal reentry tachycardia" EXACT [] xref: UMLS:C4023220 is_a: HP:0011687 ! AV nodal tachycardia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:42:52Z [Term] id: HP:0011718 name: Abnormality of the pulmonary veins def: "An abnormality of the pulmonary veins." [https://orcid.org/0000-0002-0736-9199] comment: The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium. synonym: "Abnormality of lung veins" EXACT layperson [] xref: SNOMEDCT_US:111322000 xref: SNOMEDCT_US:128585006 xref: SNOMEDCT_US:199113001 xref: UMLS:C0265914 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:45:48Z [Term] id: HP:0011719 name: Supracardiac total anomalous pulmonary venous connection def: "Type 1 total anomalous pulmonary venous connection." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Supracardiac total anomalous pulmonary venous connexion" EXACT uk_spelling [] synonym: "Total anomalous pulmonary venous connection, supracardiac" EXACT [] synonym: "Type 1 total anomalous pulmonary venous connection" EXACT [] xref: Fyler:0910 xref: Fyler:910 xref: UMLS:C4021131 is_a: HP:0005160 ! Total anomalous pulmonary venous return property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:50:39Z [Term] id: HP:0011720 name: Cardiac total anomalous pulmonary venous connection def: "Type 2 total anomalous pulmonary venous connection." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Cardiac total anomalous pulmonary venous connexion" EXACT uk_spelling [] synonym: "Total anomalous pulmonary venous connection, intracardiac" EXACT [] synonym: "Type 2 total anomalous pulmonary venous connection" EXACT [] xref: Fyler:0920 xref: Fyler:0930 xref: Fyler:920 xref: Fyler:930 xref: UMLS:C4021130 is_a: HP:0005160 ! Total anomalous pulmonary venous return property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:51:32Z [Term] id: HP:0011721 name: Infracardiac total anomalous pulmonary venous connection def: "Type 3 total anomalous pulmonary venous connection." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Infracardiac total anomalous pulmonary venous connexion" EXACT uk_spelling [] synonym: "Type 3 total anomalous pulmonary venous connection" EXACT [] xref: UMLS:C4021129 is_a: HP:0005160 ! Total anomalous pulmonary venous return property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:52:28Z [Term] id: HP:0011722 name: Mixed total anomalous pulmonary venous connection def: "Type 4 total anomalous pulmonary venous connection." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Mixed total anomalous pulmonary venous connexion" EXACT uk_spelling [] synonym: "Total anomalous pulmonary venous connection, mixed" EXACT [] synonym: "Type 4 total anomalous pulmonary venous connection" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:0950 xref: Fyler:950 xref: UMLS:C4021128 is_a: HP:0005160 ! Total anomalous pulmonary venous return property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:53:37Z [Term] id: HP:0011723 name: Congenital malformation of the right heart def: "Defect or defects of the morphogenesis of the right heart identifiable at birth." [] xref: UMLS:C4023219 is_a: HP:0001627 ! Abnormal heart morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:56:19Z [Term] id: HP:0011724 name: Uhl's anomaly def: "Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium." [PMID:10859296, PMID:16322929] xref: SNOMEDCT_US:2829000 xref: UMLS:C0265857 is_a: HP:0011723 ! Congenital malformation of the right heart property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T08:59:07Z [Term] id: HP:0011725 name: Chaotic multifocal atrial tachycardia xref: UMLS:C4023218 is_a: HP:0001692 ! Atrial arrhythmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T09:01:14Z [Term] id: HP:0011726 name: Persistent fetal circulation def: "Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Persistent foetal circulation" EXACT uk_spelling [] xref: SNOMEDCT_US:206597007 xref: SNOMEDCT_US:233815004 xref: SNOMEDCT_US:35604006 xref: UMLS:C0031190 is_a: HP:0034190 ! Abnormal fetal cardiovascular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T09:02:26Z [Term] id: HP:0011727 name: Peroneal muscle weakness def: "Weakness of the peroneal muscles." [https://orcid.org/0000-0002-0736-9199] comment: THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side. synonym: "Fibularis muscle weakness" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C0240733 is_a: HP:0009053 ! Distal lower limb muscle weakness property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-11T10:26:15Z [Term] id: HP:0011728 name: Elbow clonus def: "Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023217 is_a: HP:0002169 ! Clonus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-17T08:56:48Z [Term] id: HP:0011729 name: Abnormality of joint mobility def: "An abnormality in the range and ease of motion of joints across their normal range." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023216 is_a: HP:0034430 ! Abnormal joint physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-18T07:09:28Z [Term] id: HP:0011730 name: Abnormal central sensory function def: "An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of central sensory function" EXACT [] xref: UMLS:C4023215 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-19T07:44:18Z [Term] id: HP:0011731 name: Abnormality of circulating cortisol level def: "An abnormality of the concentration of cortisol in the blood." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023214 is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T07:59:26Z [Term] id: HP:0011732 name: Abnormal adrenal morphology def: "Any structural anomaly of the adrenal glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of adrenal morphology" EXACT [] xref: UMLS:C4023213 is_a: HP:0000834 ! Abnormality of the adrenal glands is_a: HP:0031071 ! Abnormal endocrine morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T08:04:29Z [Term] id: HP:0011733 name: Abnormality of adrenal physiology alt_id: HP:0002855 def: "A functional abnormality of the adrenal glands." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023212 is_a: HP:0000834 ! Abnormality of the adrenal glands property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T08:05:42Z [Term] id: HP:0011734 name: Central adrenal insufficiency def: "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [https://orcid.org/0000-0002-0538-4547] synonym: "Secondary adrenal insufficiency" EXACT [] xref: UMLS:C0948387 is_a: HP:0000846 ! Adrenal insufficiency property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T08:26:19Z [Term] id: HP:0011735 name: Adrenocorticotropin deficient adrenal insufficiency def: "Adrenal insufficiency secondary to a defect in ACTH production." [https://orcid.org/0000-0002-0538-4547] synonym: "ACTH deficient adrenal insufficiency" EXACT [] xref: UMLS:C4023211 is_a: HP:0011734 ! Central adrenal insufficiency property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:06:46Z [Term] id: HP:0011736 name: Primary hyperaldosteronism def: "A form of hyperaldosteronism caused by a defect within the adrenal gland." [https://orcid.org/0000-0002-0538-4547] xref: SNOMEDCT_US:190507007 xref: SNOMEDCT_US:258117004 xref: UMLS:C1384514 is_a: HP:0000859 ! Increased circulating aldosterone concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:26:05Z [Term] id: HP:0011737 name: Corticotropin-releasing hormone deficient adrenal insufficiency def: "Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production." [https://orcid.org/0000-0002-0538-4547] synonym: "CRH deficient adrenal insufficiency" EXACT [] synonym: "Tertiary adrenal insufficiency" EXACT [] xref: UMLS:C4021127 is_a: HP:0011734 ! Central adrenal insufficiency property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:09:56Z [Term] id: HP:0011738 name: Corticotropin-releasing hormone receptor defect def: "Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor." [https://orcid.org/0000-0002-0538-4547] synonym: "Corticotropin-releasing hormone receptor (CRHR) resistance" RELATED [] synonym: "CRHR defect" EXACT [] xref: UMLS:C4020745 xref: UMLS:C4023210 is_a: HP:0011734 ! Central adrenal insufficiency property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:11:04Z [Term] id: HP:0011739 name: Dexamethasone-suppressible primary hyperaldosteronism def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Familial primary hyperaldosteronism type 1" RELATED [] synonym: "Glucocorticoid-remediable familial primary aldosteronism" RELATED [] xref: UMLS:C4020743 xref: UMLS:C4020744 xref: UMLS:C4023209 is_a: HP:0011736 ! Primary hyperaldosteronism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:27:36Z [Term] id: HP:0011740 name: Glucocortocoid-insensitive primary hyperaldosteronism def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Familial primary hyperaldosteronism type 2" RELATED [] xref: UMLS:C4020742 xref: UMLS:C4023208 is_a: HP:0011736 ! Primary hyperaldosteronism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:29:51Z [Term] id: HP:0011741 name: Secondary hyperaldosteronism def: "A form of hyperaldosteronism caused by abnormally increased renin levels." [https://orcid.org/0000-0002-0538-4547] synonym: "Hyperreninemic hyperaldosteronism" EXACT [] xref: SNOMEDCT_US:67805000 xref: UMLS:C0271728 is_a: HP:0000859 ! Increased circulating aldosterone concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:32:28Z [Term] id: HP:0011742 name: Ectopic adrenal gland def: "Abnormal anatomical location of the adrenal gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Abnormal adrenal gland position" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:49494003 xref: UMLS:C0266275 is_a: HP:0011732 ! Abnormal adrenal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:45:15Z [Term] id: HP:0011743 name: Adrenal gland agenesis def: "Absent development of the adrenal gland." [https://orcid.org/0000-0002-0538-4547] xref: SNOMEDCT_US:702615004 xref: SNOMEDCT_US:83190008 xref: UMLS:C0266273 is_a: HP:0008216 ! Adrenal gland dysgenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T09:46:49Z [Term] id: HP:0011744 name: Secondary hypercortisolism def: "Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol." [https://orcid.org/0000-0002-0736-9199] synonym: "ACTH-dependent hypercortisolemia" RELATED [] xref: UMLS:C4020741 xref: UMLS:C4023207 is_a: HP:0003118 ! Increased circulating cortisol level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T11:46:27Z [Term] id: HP:0011745 name: Non-secretory adrenocortical adenoma def: "An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones." [https://orcid.org/0000-0002-0538-4547] synonym: "Non-secretory adrenal adenoma" EXACT [] xref: UMLS:C4021126 is_a: HP:0008256 ! Adrenocortical adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T11:55:18Z [Term] id: HP:0011746 name: Secretory adrenocortical adenoma def: "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones." [https://orcid.org/0000-0002-0538-4547] synonym: "Secretory adrenal adenoma" EXACT [] xref: UMLS:C4021125 is_a: HP:0008256 ! Adrenocortical adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-21T11:58:38Z [Term] id: HP:0011747 name: Abnormality of the anterior pituitary def: "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Pituitary disease" RELATED [] xref: SNOMEDCT_US:399244003 xref: UMLS:C0032002 xref: UMLS:C4023206 is_a: HP:0012503 ! Abnormal pituitary gland morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T11:17:00Z [Term] id: HP:0011748 name: Adrenocorticotropic hormone deficiency def: "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [https://orcid.org/0000-0002-0538-4547] synonym: "ACTH deficiency" EXACT [] synonym: "Corticotropin deficiency" EXACT [] xref: SNOMEDCT_US:237692001 xref: UMLS:C0342388 is_a: HP:0000830 ! Anterior hypopituitarism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T11:27:04Z [Term] id: HP:0011749 name: Adrenocorticotropic hormone excess def: "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [https://orcid.org/0000-0002-0538-4547] comment: This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744. synonym: "ACTH excess" EXACT [] xref: UMLS:C4021124 is_a: HP:0010514 ! Hyperpituitarism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:09:54Z [Term] id: HP:0011750 name: Neoplasm of the anterior pituitary def: "A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Neoplasm of the adenohypophysis" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Neoplasm of the pars anterior" EXACT [https://orcid.org/0000-0001-6908-9849] xref: NCIT:C3262 xref: UMLS:C4023205 is_a: HP:0011747 ! Abnormality of the anterior pituitary is_a: HP:0040277 ! Neoplasm of the pituitary gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:18:46Z [Term] id: HP:0011751 name: Abnormal posterior pituitary morphogenesis def: "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the neurohypophysis" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormality of the posterior pituitary" EXACT [] xref: UMLS:C4023204 is_a: HP:0012503 ! Abnormal pituitary gland morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:20:33Z [Term] id: HP:0011752 name: Neoplasm of the posterior pituitary def: "The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [https://orcid.org/0000-0002-0538-4547] synonym: "Neoplasm of the neurohypophysis" EXACT [https://orcid.org/0000-0001-6908-9849] xref: NCIT:C3262 xref: UMLS:C1334957 is_a: HP:0011751 ! Abnormal posterior pituitary morphogenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:31:18Z [Term] id: HP:0011753 name: Posterior pituitary dysgenesis def: "Abnormal development of the neurohypophysis during embryonic growth and development." [https://orcid.org/0000-0002-0538-4547] synonym: "Neurohypophysis dysplasia" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Posterior pituitary dysplasia" EXACT [] xref: UMLS:C4021123 is_a: HP:0011751 ! Abnormal posterior pituitary morphogenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:42:04Z [Term] id: HP:0011754 name: Pituicytoma def: "A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern." [https://orcid.org/0000-0002-0538-4547, PMID:17618441, PMID:19109577] xref: ICD-O:9432/1 "Pituicytoma" xref: SNOMEDCT_US:450901008 xref: SNOMEDCT_US:608817003 xref: UMLS:C2986550 is_a: HP:0011752 ! Neoplasm of the posterior pituitary property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:34:00Z [Term] id: HP:0011755 name: Ectopic posterior pituitary def: "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Ectopic neurohypophysis" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Ectopic posterior pituitary lobe" EXACT [] xref: SNOMEDCT_US:715727009 xref: UMLS:C3279571 xref: UMLS:C4053775 is_a: HP:0011753 ! Posterior pituitary dysgenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:43:25Z [Term] id: HP:0011756 name: Posterior pituitary agenesis def: "Absence of the neurohypophysis owing to a developmental defect." [https://orcid.org/0000-0002-0538-4547] synonym: "Neurohypophysis agenesis" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4023203 is_a: HP:0011753 ! Posterior pituitary dysgenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:55:35Z [Term] id: HP:0011757 name: Posterior pituitary hypoplasia def: "Underdevelopment of the neurohypophysis." [https://orcid.org/0000-0002-0538-4547] synonym: "Neurohypophysis hypoplasia" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4023202 is_a: HP:0011753 ! Posterior pituitary dysgenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T01:56:23Z [Term] id: HP:0011758 name: Pituitary acidophilic stem cell adenoma xref: UMLS:C4023201 is_a: HP:0002893 ! Pituitary adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T03:03:47Z [Term] id: HP:0011759 name: Pituitary gonadotropic cell adenoma def: "A type of pituitary adenoma that produces gonadotropins." [https://orcid.org/0000-0002-0538-4547] synonym: "Pituitary gonadotropinoma" EXACT [] xref: UMLS:C4021122 is_a: HP:0002893 ! Pituitary adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T03:37:35Z [Term] id: HP:0011760 name: Pituitary growth hormone cell adenoma def: "A type of pituitary adenoma that produces growth hormone." [https://orcid.org/0000-0002-0538-4547] synonym: "Pituitary somatotropinoma" EXACT [] xref: UMLS:C4018860 is_a: HP:0002893 ! Pituitary adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T03:38:10Z [Term] id: HP:0011761 name: Pituitary null cell adenoma def: "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess." [https://orcid.org/0000-0002-0538-4547] synonym: "Clinically silent pituitary adenoma" EXACT [] synonym: "Hormonally silent pituitary adenoma" EXACT [] synonym: "Non-functional pituitary adenoma" EXACT [] synonym: "Silent pituitary adenoma" EXACT [] xref: SNOMEDCT_US:254962005 xref: UMLS:C0338078 is_a: HP:0002893 ! Pituitary adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T03:39:00Z [Term] id: HP:0011762 name: Pituitary thyrotropic cell adenoma def: "A type of pituitary adenoma that produces thyroid stimulating hormone (TSH)." [https://orcid.org/0000-0002-0538-4547] synonym: "Pituitary thyrotropinoma" EXACT [] xref: UMLS:C4021121 is_a: HP:0002893 ! Pituitary adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T03:42:08Z [Term] id: HP:0011763 name: Pituitary carcinoma def: "A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS." [https://orcid.org/0000-0002-0538-4547, NCIT:C4536, PMID:15741248] xref: SNOMEDCT_US:128665000 xref: SNOMEDCT_US:254955001 xref: UMLS:C0346300 is_a: HP:0011750 ! Neoplasm of the anterior pituitary property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T03:52:30Z [Term] id: HP:0011764 name: Pituitary spindle cell oncocytoma def: "A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular." [https://orcid.org/0000-0002-0538-4547, PMID:21886889] xref: UMLS:C4023200 is_a: HP:0011750 ! Neoplasm of the anterior pituitary property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T03:57:01Z [Term] id: HP:0011765 name: obsolete Ectopic anterior pituitary is_obsolete: true replaced_by: HP:0012731 [Term] id: HP:0011766 name: Abnormal parathyroid morphology def: "A structural abnormality of the parathyroid gland." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the parathyroid morphology" EXACT [] xref: UMLS:C4023199 is_a: HP:0000828 ! Abnormality of the parathyroid gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T04:08:26Z [Term] id: HP:0011767 name: Abnormality of the parathyroid physiology def: "A functional abnormality of the parathyroid gland." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Parathyroid dysfunction" EXACT layperson [] synonym: "Parathyroid issue" BROAD layperson [] xref: UMLS:C4023198 is_a: HP:0000828 ! Abnormality of the parathyroid gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T04:09:13Z [Term] id: HP:0011768 name: Parathyroid dysgenesis def: "Abnormal embryonic development of the parathyroid gland." [https://orcid.org/0000-0002-0538-4547] xref: UMLS:C4023197 is_a: HP:0011766 ! Abnormal parathyroid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T04:20:41Z [Term] id: HP:0011769 name: Ectopic parathyroid def: "An abnormal anatomical location of the parathyroid gland." [https://orcid.org/0000-0002-0538-4547] xref: UMLS:C4023196 is_a: HP:0011768 ! Parathyroid dysgenesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T04:22:26Z [Term] id: HP:0011770 name: Tertiary hyperparathyroidism def: "A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism." [https://orcid.org/0000-0002-0538-4547] xref: SNOMEDCT_US:78200003 xref: UMLS:C0271858 is_a: HP:0000843 ! Hyperparathyroidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T04:38:20Z [Term] id: HP:0011771 name: Autoimmune hypoparathyroidism def: "A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity." [https://orcid.org/0000-0002-0538-4547, PMID:19328421] xref: SNOMEDCT_US:75316000 xref: UMLS:C0271865 is_a: HP:0000829 ! Hypoparathyroidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T04:54:37Z [Term] id: HP:0011772 name: Abnormal thyroid morphology def: "A structural abnormality of the thyroid gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Abnormal shape of thyroid gland" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of thyroid morphology" EXACT [] xref: UMLS:C4023195 is_a: HP:0000820 ! Abnormality of the thyroid gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T05:54:57Z [Term] id: HP:0011773 name: Uninodular goiter def: "Enlargement of the thyroid gland related to a singular nodule in the thyroid gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Uninodular goitre" EXACT uk_spelling [] xref: SNOMEDCT_US:237569006 xref: UMLS:C0342205 is_a: HP:0005994 ! Nodular goiter property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T05:56:30Z [Term] id: HP:0011774 name: Thyroid follicular adenoma xref: SNOMEDCT_US:255033000 xref: SNOMEDCT_US:255034006 xref: UMLS:C0151468 is_a: HP:0000854 ! Thyroid adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:01:31Z [Term] id: HP:0011775 name: Thyroid macrofollicular adenoma xref: UMLS:C4023194 is_a: HP:0011774 ! Thyroid follicular adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:01:42Z [Term] id: HP:0011776 name: Thyroid microfollicular adenoma xref: UMLS:C4023193 is_a: HP:0011774 ! Thyroid follicular adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:01:48Z [Term] id: HP:0011777 name: Thyroid papillary adenoma xref: UMLS:C4023192 is_a: HP:0000854 ! Thyroid adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:02:12Z [Term] id: HP:0011778 name: Thyroid atypical adenoma xref: UMLS:C4023191 is_a: HP:0000854 ! Thyroid adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:02:26Z [Term] id: HP:0011779 name: Anaplastic thyroid carcinoma xref: SNOMEDCT_US:255031003 xref: UMLS:C0238461 is_a: HP:0002890 ! Thyroid carcinoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:02:52Z [Term] id: HP:0011780 name: Thyroid hemiagenesis def: "Absence of a lobe of the thyroid gland related to a failure of its embryologic development." [https://orcid.org/0000-0002-0538-4547] xref: SNOMEDCT_US:715734006 xref: UMLS:C4023190 is_a: HP:0033079 ! Aplasia/Hypoplasia of the thyroid gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:04:32Z [Term] id: HP:0011781 name: Thyroid C cell hyperplasia def: "An abnormal growth of parafollicular (C-cells) cells." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] comment: Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition. xref: SNOMEDCT_US:237552009 xref: UMLS:C0342190 is_a: HP:0008249 ! Thyroid hyperplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:05:57Z [Term] id: HP:0011782 name: Thyroid crisis xref: SNOMEDCT_US:29028009 xref: UMLS:C0040127 is_a: HP:0000836 ! Hyperthyroidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:10:37Z [Term] id: HP:0011783 name: Thyrotoxicosis from ectopic thyroid tissue xref: SNOMEDCT_US:87232008 xref: UMLS:C0154148 is_a: HP:0000836 ! Hyperthyroidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:10:51Z [Term] id: HP:0011784 name: Thyrotoxicosis with diffuse goiter synonym: "Thyrotoxicosis with diffuse goiter" EXACT [] xref: SNOMEDCT_US:267374005 xref: UMLS:C0342122 is_a: HP:0000836 ! Hyperthyroidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:11:09Z [Term] id: HP:0011785 name: Thyrotoxicosis with toxic multinodular goiter synonym: "Thyrotoxicosis with toxic multinodular goitre" EXACT uk_spelling [] xref: SNOMEDCT_US:26389007 xref: UMLS:C0154143 is_a: HP:0000836 ! Hyperthyroidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:15:52Z [Term] id: HP:0011786 name: Thyrotoxicosis with toxic single thyroid nodule xref: SNOMEDCT_US:69329005 xref: SNOMEDCT_US:73869005 xref: UMLS:C0154141 is_a: HP:0000836 ! Hyperthyroidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:16:09Z [Term] id: HP:0011787 name: Central hypothyroidism def: "A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects." [https://orcid.org/0000-0002-0538-4547, PMID:18415684] xref: SNOMEDCT_US:26692000 xref: UMLS:C0271801 is_a: HP:0000821 ! Hypothyroidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:25:45Z [Term] id: HP:0011788 name: Increased circulating free T3 def: "An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased circulating free triiodothyronine" EXACT [] synonym: "Increased serum free T3" EXACT [] synonym: "Increased serum free triiodothyronine" EXACT [] synonym: "Increased serum fT3" EXACT abbreviation [] xref: UMLS:C4021843 is_a: HP:0032209 ! Abnormal circulating free T3 concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:31:08Z [Term] id: HP:0011789 name: Impaired sensitivity to thyroid stimulating hormone def: "Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH)." [PMID:28648507] synonym: "Thyroid-stimulating hormone receptor defect" EXACT [] synonym: "TSHR defect" EXACT [] xref: UMLS:C4023189 is_a: HP:0002926 ! Abnormality of thyroid physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:32:33Z [Term] id: HP:0011790 name: Activating thyroid-stimulating hormone receptor defect def: "Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect." [https://orcid.org/0000-0002-0538-4547] synonym: "Activating TSHR defect" EXACT [] xref: UMLS:C4023188 is_a: HP:0011789 ! Impaired sensitivity to thyroid stimulating hormone property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:34:35Z [Term] id: HP:0011791 name: Inactivating thyroid-stimulating hormone receptor defect def: "Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect." [https://orcid.org/0000-0002-0538-4547] synonym: "Inactivating TSHR defect" EXACT [] xref: UMLS:C4023187 is_a: HP:0011789 ! Impaired sensitivity to thyroid stimulating hormone property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:35:14Z [Term] id: HP:0011792 name: Neoplasm by histology def: "Neoplasm categorized according to type of histological abnormality." [https://orcid.org/0000-0002-9113-2978] xref: UMLS:C4023186 is_a: HP:0002664 ! Neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T06:57:50Z [Term] id: HP:0011793 name: Neoplasm by anatomical site def: "Neoplasm categorized according to the anatomical site of origin of the neoplasm." [https://orcid.org/0000-0002-9113-2978] xref: UMLS:C4023185 is_a: HP:0002664 ! Neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T07:00:13Z [Term] id: HP:0011794 name: Embryonal renal neoplasm def: "The presence of an embryonal neoplasm of the kidney that primarily affects children." [https://orcid.org/0000-0002-9113-2978] xref: UMLS:C4023184 is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0009726 ! Renal neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T07:44:34Z [Term] id: HP:0011795 name: Intralobar nephroblastomatosis def: "Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it)." [https://orcid.org/0000-0002-9113-2978] xref: SNOMEDCT_US:405934001 xref: UMLS:C1319016 is_a: HP:0008643 ! Nephroblastomatosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T07:50:10Z [Term] id: HP:0011796 name: Perilobar nephroblastomatosis def: "Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar)." [https://orcid.org/0000-0002-9113-2978] xref: SNOMEDCT_US:405935000 xref: UMLS:C1319017 is_a: HP:0008643 ! Nephroblastomatosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T07:50:25Z [Term] id: HP:0011797 name: Papillary renal cell carcinoma type 1 def: "A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli." [https://orcid.org/0000-0002-9113-2978, PMID:12429790] xref: UMLS:C1336839 is_a: HP:0006766 ! Papillary renal cell carcinoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T08:03:34Z [Term] id: HP:0011798 name: Renal oncocytoma def: "A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm." [https://orcid.org/0000-0002-9113-2978] comment: Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150). xref: SNOMEDCT_US:254922006 xref: UMLS:C0346255 is_a: HP:0009726 ! Renal neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-22T08:13:36Z [Term] id: HP:0011799 name: Abnormality of facial soft tissue synonym: "Abnormality of facial soft tissue" EXACT layperson [] synonym: "Anomaly of facial soft tissue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of facial soft tissue" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of facial soft tissue" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023183 is_a: HP:0000271 ! Abnormality of the face property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-23T07:27:57Z [Term] id: HP:0011800 name: Midface retrusion alt_id: HP:0040199 def: "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [https://orcid.org/0000-0002-9602-2321, PMID:19125436] subset: hposlim_core synonym: "Decreased projection of midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of midface" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat midface" EXACT [] synonym: "Hypoplasia of midface" EXACT [] synonym: "Hypotrophic midface" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Midface deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midface hypoplasia" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Midface retrusion" EXACT layperson [] synonym: "Midface, flat" EXACT [] synonym: "Retrusive midface" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Small midface" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Underdevelopment of midface" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853242 xref: UMLS:C2673410 xref: UMLS:C4280320 xref: UMLS:C4280321 is_a: HP:0000309 ! Abnormal midface morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-24T07:46:05Z [Term] id: HP:0011801 name: Enlargement of parotid gland def: "Increased size of the parotid gland." [https://orcid.org/0000-0002-9602-2321] synonym: "Hyperplasia of parotid gland" EXACT [] synonym: "Hypertrophy of parotid gland" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:29748005 xref: UMLS:C0341047 is_a: HP:0000197 ! Abnormal parotid gland morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-24T07:59:05Z [Term] id: HP:0011802 name: Hamartoma of tongue def: "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue." [https://orcid.org/0000-0002-0736-9199, PMID:17667541] synonym: "Lingual hamartoma" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:253753005 xref: UMLS:C0431565 is_a: HP:0100648 ! Neoplasm of the tongue property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-24T08:02:16Z [Term] id: HP:0011803 name: Bifid nose def: "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [PMID:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. subset: hposlim_core synonym: "Bifid nasal bridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Indentation or clefting of the nose" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Indented bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:204521002 xref: UMLS:C0221363 xref: UMLS:C4280318 xref: UMLS:C4280319 is_a: HP:0004122 ! Midline defect of the nose property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-25T08:09:58Z [Term] id: HP:0011804 name: Abnormal muscle physiology def: "A functional abnormality of a skeletal muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of muscle physiology" EXACT [] synonym: "Issue with muscle function" EXACT layperson [] xref: UMLS:C4023182 is_a: HP:0003011 ! Abnormality of the musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-25T02:00:15Z [Term] id: HP:0011805 name: Abnormal skeletal muscle morphology alt_id: HP:0003735 def: "A structural abnormality of a skeletal muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal muscle morphology" EXACT [] synonym: "Abnormality of muscle morphology" EXACT [] synonym: "Abnormally shaped muscle" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Issue with muscle structure" EXACT layperson [] xref: UMLS:C4023181 is_a: HP:0003011 ! Abnormality of the musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-25T02:00:34Z [Term] id: HP:0011807 name: Type 1 muscle fiber atrophy def: "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy." [https://orcid.org/0000-0002-0736-9199] synonym: "Type 1 muscle fibre atrophy" EXACT uk_spelling [] xref: UMLS:C4023180 is_a: HP:0100295 ! Muscle fiber atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-26T12:05:14Z [Term] id: HP:0011808 name: Decreased patellar reflex def: "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased knee jerk reflex" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Decreased patellar reflexes" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3277184 is_a: HP:0002600 ! Hyporeflexia of lower limbs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-27T08:38:22Z [Term] id: HP:0011809 name: Paradoxical myotonia def: "A type of myotonia that worsens with repeated muscle contractions." [https://orcid.org/0000-0002-0736-9199, PMID:7678441] comment: In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions. xref: UMLS:C4023179 is_a: HP:0002486 ! Myotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-27T01:20:08Z [Term] id: HP:0011810 name: Impaired two-point discrimination def: "A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart." [https://orcid.org/0000-0002-0736-9199] comment: A normal individual can sense about a 3 mm separation of points on the fingertips. xref: UMLS:C4023178 is_a: HP:0011730 ! Abnormal central sensory function property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-28T02:50:12Z [Term] id: HP:0011811 name: Impaired touch localization def: "A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip." [https://orcid.org/0000-0002-0736-9199] synonym: "Impaired topognosis" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Impaired touch localisation" EXACT uk_spelling [] xref: UMLS:C4021120 is_a: HP:0011730 ! Abnormal central sensory function property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-28T02:54:44Z [Term] id: HP:0011812 name: Agraphesthesia def: "Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1328618 is_a: HP:0011730 ! Abnormal central sensory function property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-28T02:56:29Z [Term] id: HP:0011813 name: Increased cerebral lipofuscin def: "Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [https://orcid.org/0000-0002-0736-9199, PMID:9531959] xref: UMLS:C4023177 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-28T03:17:57Z [Term] id: HP:0011814 name: Increased urinary hypoxanthine level def: "The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3810487 is_a: HP:0040425 ! Abnormal urinary hypoxanthine level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-28T03:38:52Z [Term] id: HP:0011815 name: Cephalocele def: "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect." [https://orcid.org/0000-0002-0736-9199, PMID:24931720] comment: A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). xref: SNOMEDCT_US:253101008 xref: SNOMEDCT_US:48777005 xref: SNOMEDCT_US:55999004 xref: UMLS:C0014065 is_a: HP:0000929 ! Abnormal skull morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-29T09:04:09Z [Term] id: HP:0011816 name: Parietal encephalocele def: "An encephalocele located between bregma and lambda." [https://orcid.org/0000-0002-2972-5481, PMID:2773494] xref: SNOMEDCT_US:253109005 xref: UMLS:C0431294 is_a: HP:0002084 ! Encephalocele property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-29T09:07:38Z [Term] id: HP:0011817 name: Basal encephalocele def: "Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares." [https://orcid.org/0000-0002-0736-9199, PMID:4966739] comment: The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. xref: UMLS:C4023176 is_a: HP:0002084 ! Encephalocele property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-29T09:14:34Z [Term] id: HP:0011818 name: Nasofrontal encephalocele synonym: "Naso-frontal encephalocele" EXACT [] xref: SNOMEDCT_US:253106003 xref: UMLS:C0431291 is_a: HP:0007330 ! Frontoethmoidal encephalocele property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-29T09:20:25Z [Term] id: HP:0011819 name: Submucous cleft soft palate def: "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [https://orcid.org/0000-0002-0736-9199] comment: Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties. subset: hposlim_core synonym: "Partial thickness cleft soft palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Submucous cleft velum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023175 is_a: HP:0000185 ! Cleft soft palate is_a: HP:5201016 ! Submucous cleft palate property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-29T09:49:02Z [Term] id: HP:0011820 name: Membranous choanal atresia def: "Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike." [HPO_CONTRIBUTOR:DDD_jhurst] xref: UMLS:C4023174 is_a: HP:0000453 ! Choanal atresia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-29T01:12:43Z [Term] id: HP:0011821 name: Abnormal facial skeleton morphology def: "An abnormality of one or more of the set of bones that make up the facial skeleton." [https://orcid.org/0000-0002-2972-5481] comment: The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. synonym: "Abnormality of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of facial skeleton" EXACT layperson [] synonym: "Anomaly of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of facial skeleton" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of facial skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of facial bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of facial skeleton" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:433096001 xref: UMLS:C2315229 is_a: HP:0000929 ! Abnormal skull morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-29T04:37:30Z [Term] id: HP:0011822 name: Broad chin def: "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [PMID:19125436] subset: hposlim_core synonym: "Broad chin" EXACT layperson [] synonym: "Increased width of chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of menton region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide chin" EXACT layperson [] xref: UMLS:C4023172 is_a: HP:0000306 ! Abnormality of the chin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-30T08:23:35Z [Term] id: HP:0011823 name: Chin with horizontal crease def: "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." [PMID:19125436] synonym: "Chin with horizontal crease" EXACT layperson [] synonym: "Chin with horizontal furrow" EXACT [] synonym: "Chin with horizontal groove" EXACT layperson [] synonym: "Chin with horizontal sulcus" EXACT [] synonym: "Horizontal chin skin cleft" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal menton crease" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023171 is_a: HP:0000306 ! Abnormality of the chin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-30T08:33:02Z [Term] id: HP:0011824 name: Chin with H-shaped crease def: "H-shaped crease in the fat pad of the chin." [PMID:19125436] comment: The H-shape must be distinguished from Vertical crease of the chin. synonym: "Chin with H-shaped crease" EXACT layperson [] synonym: "Chin, H-Shaped Crease" EXACT layperson [] synonym: "Chin, H-shaped groove" EXACT layperson [] synonym: "H-shaped dimple of the chin" EXACT layperson [] xref: UMLS:C1860309 is_a: HP:0000306 ! Abnormality of the chin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-04-30T08:34:24Z [Term] id: HP:0011825 name: Tented philtrum def: "Prominence of a triangular soft tissue area of the philtrum with the apex to the columella." [PMID:19152422] comment: A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately. subset: hposlim_core synonym: "Philtrum, Tented" EXACT [] xref: UMLS:C4021119 is_a: HP:0000288 ! Abnormality of the philtrum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T10:32:31Z [Term] id: HP:0011826 name: Philtrum with midline raphe def: "Narrow ridge in the midline of the philtral groove." [PMID:19152422] comment: The ridge may be very subtly elevated. subset: hposlim_core synonym: "Philtrum with central raphe" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Philtrum with midline ridge" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Philtrum, midline raphe" EXACT [] xref: UMLS:C4021118 is_a: HP:0000288 ! Abnormality of the philtrum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T10:33:46Z [Term] id: HP:0011827 name: Malaligned philtral ridges def: "Absence of the usual parallel position of philtral ridges." [PMID:19152422] comment: Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term. subset: hposlim_core synonym: "Asymmetric philtral columns" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetric philtral ridges" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malaligned philtral columns" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Philtral Ridges, Malaligned" EXACT [] xref: UMLS:C4021117 is_a: HP:0000288 ! Abnormality of the philtrum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T10:35:32Z [Term] id: HP:0011828 name: Midline sinus of philtrum def: "Pit in the midline of the philtral groove." [PMID:19152422] comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. subset: hposlim_core synonym: "Central sinus of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Philtrum, Midline Sinus" EXACT [] xref: UMLS:C4021116 is_a: HP:0000288 ! Abnormality of the philtrum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T10:36:55Z [Term] id: HP:0011829 name: Narrow philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum." [PMID:19152422] comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. subset: hposlim_core synonym: "Decreased breadth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased horizontal dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased transverse dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Philtrum, Narrow" EXACT [] synonym: "Thin philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021115 is_a: HP:0000288 ! Abnormality of the philtrum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T10:38:12Z [Term] id: HP:0011830 name: Abnormal oral mucosa morphology def: "Abnormality of the oral mucosa." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of lining of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of mucosa of mouth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of oral mucosa" EXACT [] synonym: "Abnormality of oral mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4023170 is_a: HP:0000163 ! Abnormal oral cavity morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T10:43:40Z [Term] id: HP:0011831 name: Deviated nasal tip def: "Nasal tip positioned to one side of the midline." [PMID:19152422] comment: There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip. synonym: "Asymmetry of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Crooked tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deviated nasal tip" EXACT layperson [] synonym: "Deviated tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Distortion of the nasal tip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal tip, deviated" EXACT [] xref: UMLS:C4021114 xref: UMLS:C4280271 is_a: HP:0000436 ! Abnormal nasal tip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T07:37:48Z [Term] id: HP:0011832 name: Narrow nasal tip def: "Decrease in width of the nasal tip." [PMID:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. subset: hposlim_core synonym: "Narrow nasal tip" EXACT layperson [] synonym: "Narrow tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal tip, narrow" EXACT layperson [] synonym: "Nasal tip, pinched" EXACT layperson [] synonym: "Pinched nasal tip" EXACT layperson [] synonym: "Pinched tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249331008 xref: UMLS:C0426433 is_a: HP:0000436 ! Abnormal nasal tip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T07:39:09Z [Term] id: HP:0011833 name: Overhanging nasal tip def: "Positioning of the nasal tip inferior to the nasal base." [PMID:19152422] comment: This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately. subset: hposlim_core synonym: "Drooping nasal tip" EXACT layperson [] synonym: "Hooked tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Low hanging nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal tip, overhanging" EXACT layperson [] synonym: "Overhanging nasal tip" EXACT layperson [] xref: SNOMEDCT_US:249328007 xref: UMLS:C0426430 is_a: HP:0000436 ! Abnormal nasal tip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-01T07:42:15Z [Term] id: HP:0011834 name: Moyamoya phenomenon def: "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis." [https://orcid.org/0000-0002-0736-9199] comment: Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain. xref: UMLS:C4023169 is_a: HP:0009145 ! Abnormal cerebral artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-05T03:24:26Z [Term] id: HP:0011835 name: Absent scaphoid def: "Congenital absence of the scaphoid.." [HPO_CONTRIBUTOR:DDD_jcampbell] synonym: "Absent scaphoid bone" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Missing scaphoid bone" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1847189 is_a: HP:0004231 ! Carpal bone aplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-05T07:37:35Z [Term] id: HP:0011836 name: Delayed talus ossification def: "Delayed maturation and calcification of the talus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023168 is_a: HP:0008365 ! Abnormal talus morphology is_a: HP:0008369 ! Abnormal tarsal ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-05T08:39:24Z [Term] id: HP:0011837 name: Partial IgA deficiency def: "Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023167 is_a: HP:0002720 ! Decreased circulating IgA concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-06T09:42:01Z [Term] id: HP:0011838 name: Sclerodactyly def: "Localized thickening and tightness of the skin of the fingers or toes." [https://orcid.org/0000-0002-0736-9199] xref: ICD-10:L94.3 "Sclerodactyly" xref: SNOMEDCT_US:201051000 xref: SNOMEDCT_US:298285004 xref: UMLS:C0150988 is_a: HP:0001072 ! Thickened skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-06T10:04:27Z [Term] id: HP:0011839 name: Abnormal T cell count def: "Abnormal increase or decrease of absolute number of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, per microlitre, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells." [https://orcid.org/0000-0002-0736-9199, PMID:22420532] synonym: "Abnormal number of T cells" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of T cell number" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4021113 is_a: HP:0002843 ! Abnormal T cell morphology is_a: HP:0040088 ! Abnormal lymphocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-06T10:43:44Z [Term] id: HP:0011840 name: Abnormality of T cell physiology alt_id: HP:0002844 alt_id: HP:0005373 alt_id: HP:0005383 alt_id: HP:0005402 alt_id: HP:0005409 alt_id: HP:0005435 def: "A functional anomaly of T cells." [https://orcid.org/0000-0002-0736-9199] synonym: "Impaired T cell function" EXACT layperson [] xref: UMLS:C4023166 is_a: HP:0031409 ! Abnormal lymphocyte physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-06T10:44:50Z [Term] id: HP:0011841 name: Ventricular flutter def: "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance." [https://orcid.org/0000-0002-0736-9199] comment: If untreated, ventricular flutter typically progresses to ventricular fibrillation. xref: SNOMEDCT_US:111288001 xref: UMLS:C0152173 is_a: HP:0004756 ! Ventricular tachycardia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-06T06:46:54Z [Term] id: HP:0011842 name: Abnormal skeletal morphology def: "An abnormality of the form, structure, or size of the skeletal system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of skeletal morphology" EXACT [] synonym: "Abnormally shaped skeletal" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023165 is_a: HP:0000924 ! Abnormality of the skeletal system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-07T08:08:37Z [Term] id: HP:0011843 name: Abnormal musculoskeletal physiology def: "An abnormality of the function of the skeletal system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of musculoskeletal physiology" EXACT [] xref: UMLS:C4023164 is_a: HP:0033127 ! Abnormality of the musculoskeletal system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-07T08:09:43Z [Term] id: HP:0011844 name: Abnormal appendicular skeleton morphology def: "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023163 is_a: HP:0011842 ! Abnormal skeletal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-07T08:12:26Z [Term] id: HP:0011845 name: Short second metatarsal def: "Short (hypoplastic) second metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Short 2nd long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023162 is_a: HP:0010743 ! Short metatarsal is_a: HP:0040034 ! Abnormality of the second metatarsal bone property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-08T07:36:00Z [Term] id: HP:0011846 name: Osteoblastoma def: "A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:55333008 xref: UMLS:C0029417 is_a: HP:0010622 ! Neoplasm of the skeletal system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-09T08:34:41Z [Term] id: HP:0011847 name: Giant cell tumor of bone def: "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts." [https://orcid.org/0000-0002-0736-9199] synonym: "Giant cell tumour of bone" EXACT uk_spelling [] xref: SNOMEDCT_US:57500000 xref: SNOMEDCT_US:697970009 xref: UMLS:C0206638 is_a: HP:0010622 ! Neoplasm of the skeletal system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-09T08:35:52Z [Term] id: HP:0011848 name: Abdominal colic def: "A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity." [] comment: Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system. xref: SNOMEDCT_US:9991008 xref: UMLS:C0232488 is_a: HP:0002027 ! Abdominal pain property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-12T07:17:45Z [Term] id: HP:0011849 name: Abnormal bone ossification def: "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." [https://orcid.org/0000-0002-0736-9199, PMID:18157903] comment: All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. synonym: "Abnormal bone maturation" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: MP:0008271 "Abnormal bone ossification" xref: UMLS:C4023161 xref: UMLS:C4280317 is_a: HP:0003330 ! Abnormal bone structure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-15T07:39:58Z [Term] id: HP:0011850 name: Parotitis def: "Inflammation of the parotid gland." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:14756005 xref: UMLS:C0030583 is_a: HP:0000197 ! Abnormal parotid gland morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T10:33:44Z [Term] id: HP:0011851 name: Hemopericardium def: "Accumulation of blood within the pericardial sac." [https://orcid.org/0000-0002-0736-9199, PMID:10882282] xref: SNOMEDCT_US:23412002 xref: UMLS:C0019064 is_a: HP:0001698 ! Pericardial effusion property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T10:43:03Z [Term] id: HP:0011852 name: Chylopericardium def: "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:233890005 xref: UMLS:C0242426 is_a: HP:0001698 ! Pericardial effusion property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T10:44:29Z [Term] id: HP:0011853 name: Serous pericardial effusion def: "Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023160 is_a: HP:0001698 ! Pericardial effusion property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T10:49:08Z [Term] id: HP:0011854 name: Hemoperitoneum def: "Accumulation of blood in the peritoneal cavity owing to internal hemorrhage." [https://orcid.org/0000-0002-0736-9199] synonym: "Hematoperitoneum" RELATED [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:443826006 xref: SNOMEDCT_US:45626005 xref: UMLS:C0019065 xref: UMLS:C0744735 is_a: HP:0002585 ! Abnormal peritoneum morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T10:55:34Z [Term] id: HP:0011855 name: Pharyngeal edema def: "Abnormal accumulation of fluid leading to swelling of the pharynx." [https://orcid.org/0000-0002-0736-9199] synonym: "Pharyngeal oedema" EXACT uk_spelling [] synonym: "Swollen throat" EXACT [] synonym: "Throat swelling" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:2129002 xref: UMLS:C0236024 is_a: HP:0000969 ! Edema is_a: HP:0033151 ! Abnormal pharynx morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T11:02:52Z [Term] id: HP:0011856 name: Pica def: "An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:14077003 xref: UMLS:C0031873 is_a: HP:0100738 ! Abnormal eating behavior property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T11:08:54Z [Term] id: HP:0011857 name: Plasmacytoma def: "A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location." [https://orcid.org/0000-0002-0736-9199] comment: Plasmacytoma often generalizes to multiple myeloma over the course of several years. xref: SNOMEDCT_US:10639003 xref: SNOMEDCT_US:415112005 xref: UMLS:C0032131 is_a: HP:0004377 ! Hematological neoplasm property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T11:34:44Z [Term] id: HP:0011858 name: Reduced factor IX activity def: "Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [https://orcid.org/0000-0002-0736-9199] comment: Severe deficiency of factor IX underlies hemophilia B. synonym: "Low factor IX activity" EXACT [] xref: UMLS:C4023159 is_a: HP:0033062 ! Abnormal factor IX activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-26T11:35:57Z [Term] id: HP:0011859 name: Punctate keratitis def: "A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:416300008 xref: UMLS:C1562761 is_a: HP:0000491 ! Keratitis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-05-21T12:18:03Z [Term] id: HP:0011860 name: Metaphyseal dappling def: "The presence of spots or rounded patches of abnormally increased density of metaphyseal bone." [https://orcid.org/0000-0002-0736-9199] comment: This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia. synonym: "Dappled metaphyseal sclerosis" EXACT [] xref: UMLS:C4020907 is_a: HP:0004979 ! Metaphyseal sclerosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-26T04:09:07Z [Term] id: HP:0011861 name: Bilateral trilobed lung def: "Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral trilobed lungs" EXACT plural_form [] xref: SNOMEDCT_US:448648001 xref: UMLS:C3164377 is_a: HP:0002101 ! Abnormal lung lobation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-27T01:09:21Z [Term] id: HP:0011862 name: Abnormal bone collagen fibril morphology def: "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity." [https://orcid.org/0000-0002-0736-9199, MP:0011642] xref: UMLS:C4023158 is_a: HP:0003330 ! Abnormal bone structure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-27T01:32:04Z [Term] id: HP:0011863 name: Abnormal sternal ossification alt_id: HP:0006624 def: "Any anomaly in the formation of the bony substance of the sternum." [https://orcid.org/0000-0002-0736-9199] comment: The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. synonym: "Abnormal maturation of breastbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Sternal ossification center abnormalities" EXACT [] synonym: "Sternal ossification centre abnormalities" EXACT uk_spelling [] xref: UMLS:C1860243 is_a: HP:0000766 ! Abnormal sternum morphology is_a: HP:0003336 ! Abnormal enchondral ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-27T04:08:55Z [Term] id: HP:0011864 name: Elevated plasma pyrophosphate def: "An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023157 is_a: HP:0100529 ! Abnormal blood phosphate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-28T06:05:24Z [Term] id: HP:0011867 name: Abnormal iliac wing morphology def: "An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the wing of the ilium" EXACT [] xref: UMLS:C4023156 is_a: HP:0002867 ! Abnormal ilium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-28T07:23:30Z [Term] id: HP:0011868 name: Sciatica def: "Pain in the lower back and hip radiating in the distribution of the sciatic nerve." [https://orcid.org/0000-0002-0736-9199, PMID:17872935] xref: SNOMEDCT_US:23056005 xref: UMLS:C0036396 is_a: HP:0003418 ! Back pain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-28T10:34:09Z [Term] id: HP:0011869 name: Abnormal platelet function def: "Any anomaly in the function of thrombocytes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0855740 is_a: HP:0001872 ! Abnormality of thrombocytes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-30T05:32:11Z [Term] id: HP:0011870 name: Impaired arachidonic acid-induced platelet aggregation def: "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4023155 is_a: HP:0003540 ! Impaired platelet aggregation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-30T05:37:07Z [Term] id: HP:0011871 name: Impaired ristocetin-induced platelet aggregation def: "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4023154 is_a: HP:0003540 ! Impaired platelet aggregation is_a: HP:0012146 ! Abnormality of von Willebrand factor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-30T05:39:52Z [Term] id: HP:0011872 name: Impaired thrombin-induced platelet aggregation def: "Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics)." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4023153 is_a: HP:0003540 ! Impaired platelet aggregation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-30T05:41:52Z [Term] id: HP:0011873 name: Abnormal platelet count def: "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood." [https://orcid.org/0000-0002-4381-2442] xref: SNOMEDCT_US:165558001 xref: UMLS:C0580317 is_a: HP:0011875 ! Abnormal platelet morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-30T08:11:13Z [Term] id: HP:0011874 name: Heparin-induced thrombocytopenia def: "Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin." [https://orcid.org/0000-0002-0736-9199, PMID:16928996] comment: A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4. xref: SNOMEDCT_US:73397007 xref: UMLS:C0272285 is_a: HP:0001873 ! Thrombocytopenia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-30T08:31:16Z [Term] id: HP:0011875 name: Abnormal platelet morphology def: "An anomaly in platelet form, ultrastructure, or intracellular organelles." [https://orcid.org/0000-0002-4381-2442] synonym: "Abnormal shape of platelets" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0855742 is_a: HP:0001872 ! Abnormality of thrombocytes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-31T03:43:59Z [Term] id: HP:0011876 name: Abnormal platelet volume def: "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023152 is_a: HP:0011875 ! Abnormal platelet morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-31T03:46:13Z [Term] id: HP:0011877 name: Increased mean platelet volume def: "Average platelet volume above the upper limit of the normal reference interval." [https://orcid.org/0000-0002-7744-1790] comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). synonym: "Large platelets" EXACT layperson [] xref: UMLS:C1096367 is_a: HP:0011876 ! Abnormal platelet volume property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-31T03:58:17Z [Term] id: HP:0011878 name: Abnormal platelet membrane protein expression def: "Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4023151 is_a: HP:0011869 ! Abnormal platelet function property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-31T04:00:21Z [Term] id: HP:0011879 name: Decreased platelet glycoprotein Ib-IX-V def: "Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V." [https://orcid.org/0000-0002-7744-1790, PMID:10605725] comment: The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma. xref: UMLS:C4023150 is_a: HP:0011878 ! Abnormal platelet membrane protein expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-05-31T04:01:34Z [Term] id: HP:0011880 name: Acute disseminated intravascular coagulation def: "An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023149 is_a: HP:0005521 ! Disseminated intravascular coagulation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T04:49:50Z [Term] id: HP:0011881 name: Decreased platelet glycoprotein VI def: "Decreased cell membrane concentration of glycoprotein VI." [https://orcid.org/0000-0002-7744-1790] comment: The glycoprotein VI is a glycoprotein receptor for collagen. xref: UMLS:C4023148 is_a: HP:0011878 ! Abnormal platelet membrane protein expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T09:17:33Z [Term] id: HP:0011882 name: Decreased platelet P2Y12 receptor def: "Decreased cell membrane concentration of P2Y12 receptor." [https://orcid.org/0000-0002-7744-1790, PMID:14755328] comment: The P2Y12 receptor is activated by ADP and plays a central role in platelet activation. xref: UMLS:C4023147 is_a: HP:0011878 ! Abnormal platelet membrane protein expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T09:18:58Z [Term] id: HP:0011883 name: Abnormal platelet granules def: "An anomaly of alpha or dense granules or platelet lysosomes." [https://orcid.org/0000-0002-7744-1790, PMID:18041654] comment: Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space. xref: UMLS:C4023146 is_a: HP:0011875 ! Abnormal platelet morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T09:47:57Z [Term] id: HP:0011884 name: Abnormal umbilical stump bleeding def: "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth." [https://orcid.org/0000-0003-2945-4463] xref: UMLS:C4023145 is_a: HP:0001892 ! Abnormal bleeding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T10:25:45Z [Term] id: HP:0011885 name: Hemorrhage of the eye def: "Bleeding from vessels of the various tissues of the eye." [https://orcid.org/0000-0003-2945-4463] synonym: "Bleeding from the eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Haemorrhage of the eye" EXACT uk_spelling [] xref: SNOMEDCT_US:417244000 xref: SNOMEDCT_US:93478000 xref: UMLS:C0015402 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0012373 ! Abnormal eye physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T10:44:39Z [Term] id: HP:0011886 name: Hyphema def: "Bleeding in the anterior chamber of the eye." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:75229002 xref: UMLS:C0020581 is_a: HP:0011885 ! Hemorrhage of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T10:49:36Z [Term] id: HP:0011887 name: Choroid hemorrhage def: "Hemorrhage from the vessels of the choroid." [https://orcid.org/0000-0002-0736-9199] synonym: "Choroid haemorrhage" EXACT uk_spelling [] synonym: "Choroidal haemorrhage" EXACT uk_spelling [] synonym: "Choroidal hemorrhage" EXACT [] xref: SNOMEDCT_US:122003 xref: UMLS:C0008522 is_a: HP:0011885 ! Hemorrhage of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T10:50:39Z [Term] id: HP:0011888 name: Bleeding requiring red cell transfusion def: "Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4)." [https://orcid.org/0000-0003-2945-4463] synonym: "Bleeding requiring red cell transfusion" EXACT layperson [] xref: UMLS:C4023144 is_a: HP:0001892 ! Abnormal bleeding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T11:31:44Z [Term] id: HP:0011889 name: Bleeding with minor or no trauma def: "Significant bleeding or hemorrhage without significant precipitating factor." [https://orcid.org/0000-0002-4381-2442] synonym: "Bleeding with minor or no trauma" EXACT layperson [] synonym: "Easy bleeding" EXACT layperson [] xref: UMLS:C4023143 is_a: HP:0001892 ! Abnormal bleeding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T11:32:13Z [Term] id: HP:0011890 name: Prolonged bleeding following procedure def: "Prolonged or protracted bleeding following an invasive procedure or intervention." [https://orcid.org/0000-0003-2945-4463] synonym: "Prolonged bleeding following procedure" EXACT layperson [] xref: UMLS:C4023142 is_a: HP:0001892 ! Abnormal bleeding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T11:33:38Z [Term] id: HP:0011891 name: Post-partum hemorrhage def: "Significant maternal hemorrhage/blood loss following deilvery of a child." [https://orcid.org/0000-0003-2945-4463] synonym: "Bleeding post-delivery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Post-partum hemorrhage" EXACT [] xref: SNOMEDCT_US:47821001 xref: UMLS:C0032797 is_a: HP:0011890 ! Prolonged bleeding following procedure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T11:35:46Z [Term] id: HP:0011892 name: Decreased circulating vitamin K concentration def: "The concentration of vitamin K in the blood circulation is below the lower limit of normal." [] synonym: "Low levels of vitamin K" EXACT [] xref: SNOMEDCT_US:52675005 xref: UMLS:C0042880 is_a: HP:0100831 ! Abnormality of vitamin K metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T05:21:14Z [Term] id: HP:0011893 name: Abnormal leukocyte count def: "Number of leukocytes per volume of blood beyond normal limits." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal white blood cell count" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:165509000 xref: UMLS:C0580531 is_a: HP:0001881 ! Abnormal leukocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-02T05:32:39Z [Term] id: HP:0011894 name: Impaired thromboxane A2 agonist-induced platelet aggregation def: "Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4023141 is_a: HP:0003540 ! Impaired platelet aggregation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T08:51:33Z [Term] id: HP:0011895 name: Anemia due to reduced life span of red cells def: "A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days." [https://orcid.org/0000-0003-2945-4463] synonym: "Anaemia due to reduced life span of red cells" EXACT [] xref: UMLS:C4021112 is_a: HP:0001903 ! Anemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T09:26:17Z [Term] id: HP:0011896 name: Subconjunctival hemorrhage def: "Bleeding beneath the mucous membrane that lines the inner surface of the eyelid." [https://orcid.org/0000-0003-2945-4463] synonym: "Subconjunctival haemorrhage" EXACT uk_spelling [] xref: SNOMEDCT_US:78768009 xref: UMLS:C0038534 is_a: HP:0011885 ! Hemorrhage of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:11:41Z [Term] id: HP:0011897 name: Increased total neutrophil count def: "Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0003-2945-4463] synonym: "Increased blood neutrophil counts" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Neutrophilia" EXACT [] xref: UMLS:C4023140 is_a: HP:0011991 ! Abnormal total neutrophil count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:16:43Z [Term] id: HP:0011898 name: Abnormality of circulating fibrinogen def: "An abnormality of the level of activity of circulating fibrinogen." [https://orcid.org/0000-0003-2945-4463] comment: Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin. xref: UMLS:C4023139 is_a: HP:0010990 ! Abnormality of the common coagulation pathway property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:35:43Z [Term] id: HP:0011899 name: Hyperfibrinogenemia def: "Increased concentration of fibrinogen in the blood." [https://orcid.org/0000-0003-2945-4463] xref: SNOMEDCT_US:439000005 xref: UMLS:C0919890 is_a: HP:0011898 ! Abnormality of circulating fibrinogen property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:38:36Z [Term] id: HP:0011900 name: Hypofibrinogenemia def: "Decreased concentration of fibrinogen in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low fibrinogen activity" EXACT [] synonym: "Low fibrinogen level" EXACT [] xref: SNOMEDCT_US:234457009 xref: UMLS:C0553681 is_a: HP:0011898 ! Abnormality of circulating fibrinogen property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:39:47Z [Term] id: HP:0011901 name: Dysfibrinogenemia def: "Qualitatively abnormal fibrinogen." [https://orcid.org/0000-0003-2945-4463] synonym: "Dysfibrinogenaemia" EXACT [] xref: SNOMEDCT_US:111589005 xref: UMLS:C1260903 is_a: HP:0011898 ! Abnormality of circulating fibrinogen property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:40:21Z [Term] id: HP:0011902 name: Abnormal hemoglobin def: "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal haemoglobin" EXACT uk_spelling [] synonym: "Abnormal Hb" EXACT abbreviation [] xref: UMLS:C0349705 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T03:53:23Z [Term] id: HP:0011903 name: HbH hemoglobin def: "Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia." [https://orcid.org/0000-0002-0736-9199, PMID:21345100] synonym: "Haemoglobin H" EXACT uk_spelling [] synonym: "HbH haemoglobin" EXACT uk_spelling [] synonym: "Hemoglobin H" EXACT [] xref: SNOMEDCT_US:48553001 xref: UMLS:C3161174 is_a: HP:0011902 ! Abnormal hemoglobin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T04:59:15Z [Term] id: HP:0011904 name: Persistence of hemoglobin F def: "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased haemoglobin F" EXACT uk_spelling [] synonym: "Increased hemoglobin F" EXACT [] synonym: "Persistence of haemoglobin F" EXACT uk_spelling [] synonym: "Persistence of HbF" EXACT abbreviation [] xref: UMLS:C0239941 is_a: HP:0011902 ! Abnormal hemoglobin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T05:03:00Z [Term] id: HP:0011905 name: Reduced hemoglobin A def: "Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Reduced haemoglobin A" EXACT uk_spelling [] synonym: "Reduced HbA" EXACT abbreviation [] xref: UMLS:C4023138 is_a: HP:0011902 ! Abnormal hemoglobin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T05:07:19Z [Term] id: HP:0011906 name: Reduced beta/alpha synthesis ratio def: "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [https://orcid.org/0000-0002-0736-9199, PMID:1060068] xref: UMLS:C4023137 is_a: HP:0005560 ! Imbalanced hemoglobin synthesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T05:41:20Z [Term] id: HP:0011907 name: Reduced alpha/beta synthesis ratio def: "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023136 is_a: HP:0005560 ! Imbalanced hemoglobin synthesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T05:43:45Z [Term] id: HP:0011908 name: Unilateral radial aplasia def: "Missing radius bone on one side only associated with congenital failure of development." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023135 is_a: HP:0003974 ! Absent radius property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T06:46:52Z [Term] id: HP:0011909 name: Flattened metacarpal heads def: "Abnormally flat shape of the heads of the metacarpal bones." [https://orcid.org/0000-0002-0736-9199] comment: The metacarpal heads articulate with the proximal phalanges of the fingers. synonym: "Flattened head of long bone of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023134 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T10:23:40Z [Term] id: HP:0011910 name: Shortening of all phalanges of fingers def: "Abnormal reduction in length affecting all phalanges." [https://orcid.org/0000-0002-0736-9199] synonym: "Shortening of all finger bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023133 is_a: HP:0009803 ! Short phalanx of finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T10:50:44Z [Term] id: HP:0011911 name: Abnormal metacarpophalangeal joint morphology def: "An anomaly of a metacarpophalangeal joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of metacarpophalangeal joint" EXACT [] synonym: "Abnormality of the knuckle" EXACT layperson [] xref: UMLS:C4023132 is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-03T11:03:36Z [Term] id: HP:0011912 name: Abnormality of the glenoid fossa def: "An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023131 is_a: HP:0000782 ! Abnormal scapula morphology is_a: HP:0003043 ! Abnormal shoulder morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-05T08:51:23Z [Term] id: HP:0011913 name: Lumbar hypertrichosis def: "Excessive, increased hair growth located in the lumbar region." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023130 is_a: HP:0000998 ! Hypertrichosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-05T10:13:10Z [Term] id: HP:0011914 name: Thoracic hypertrichosis def: "Excessive, increased hair growth located in the thoracic region." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023129 is_a: HP:0000998 ! Hypertrichosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-05T10:13:14Z [Term] id: HP:0011915 name: Cardiovascular calcification def: "Abnormal calcification in the cardiovascular system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023128 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-05T10:35:58Z [Term] id: HP:0011916 name: Toe extensor amyotrophy def: "Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023127 is_a: HP:0001436 ! Abnormality of the foot musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T06:59:44Z [Term] id: HP:0011917 name: Short 5th toe def: "Underdevelopment (hypoplasia) of the fifth toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Short fifth toe" EXACT [] synonym: "Short little toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short pinkie toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Short pinky toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021111 is_a: HP:0001831 ! Short toe property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T08:25:00Z [Term] id: HP:0011918 name: Clinodactyly of the 4th toe def: "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "4th toe clinodactyly" RELATED [] synonym: "Curvature of 4th toe" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4020740 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010338 ! Deviation of the 4th toe property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T08:44:27Z [Term] id: HP:0011919 name: Pleural empyema def: "Accumulation of pus in the pleural cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Pyothorax" EXACT [] xref: SNOMEDCT_US:405950009 xref: SNOMEDCT_US:405951008 xref: SNOMEDCT_US:58554001 xref: UMLS:C0014013 is_a: HP:0002202 ! Pleural effusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T07:13:41Z [Term] id: HP:0011920 name: Transudative pleural effusion def: "A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199, PMID:16623208] comment: Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax. xref: SNOMEDCT_US:79231000 xref: UMLS:C0020312 is_a: HP:0002202 ! Pleural effusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T07:31:00Z [Term] id: HP:0011921 name: Exudative pleural effusion def: "A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199, PMID:16623208] comment: Transudates result from pneumonia, malignancy, thromboembolism, and other causes. xref: SNOMEDCT_US:13841000119107 xref: UMLS:C3887491 is_a: HP:0002202 ! Pleural effusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T07:35:47Z [Term] id: HP:0011922 name: Abnormal activity of mitochondrial respiratory chain def: "An increased or decreased activity of the mitochondrial respiratory chain." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023126 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T08:57:44Z [Term] id: HP:0011923 name: Decreased activity of mitochondrial complex I def: "A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory complex I deficiency" RELATED [] xref: UMLS:C2677650 xref: UMLS:C4020739 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T09:02:29Z [Term] id: HP:0011924 name: Decreased activity of mitochondrial complex III def: "A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory complex III deficiency" RELATED [] xref: UMLS:C3149083 xref: UMLS:C4020738 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T09:04:26Z [Term] id: HP:0011925 name: Decreased activity of mitochondrial ATP synthase complex def: "A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased activity of mitochondrial complex V" EXACT [] synonym: "Mitochondrial complex V deficiency" EXACT [] synonym: "Respiratory complex deficiency, ATPase deficiency" RELATED [] xref: UMLS:C4020737 xref: UMLS:C4023125 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-08T09:08:42Z [Term] id: HP:0011926 name: Proximal placement of hallux def: "Proximal mislocalization of the big toe from its normal position." [https://orcid.org/0000-0002-0736-9199] comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. synonym: "Proximal placement of big toe" EXACT [] synonym: "Proximally placed halluces" EXACT plural_form [] xref: UMLS:C4021110 is_a: HP:0010051 ! Deviation of the hallux property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-09T03:29:59Z [Term] id: HP:0011927 name: Short digit def: "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [https://orcid.org/0000-0002-0736-9199] comment: Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. synonym: "Short digit" EXACT layperson [] synonym: "Very short digits" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1860176 xref: UMLS:C4023124 is_a: HP:0011297 ! Abnormal digit morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T09:18:42Z [Term] id: HP:0011928 name: Short proximal phalanx of toe def: "Developmental hypoplasia (shortening) of proximal phalanx of toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Short innermost toe bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023123 is_a: HP:0001831 ! Short toe is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T10:06:30Z [Term] id: HP:0011929 name: Hypersegmentation of proximal phalanx of third finger def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger." [https://orcid.org/0000-0002-0736-9199] comment: This anomaly is characteristic for brachydactyly type C. xref: UMLS:C4023122 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T10:49:28Z [Term] id: HP:0011930 name: Hyperextensible skin of chest synonym: "Hyperelastic chest skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stretchable chest skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021836 is_a: HP:0007458 ! Focal hyperextensible skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T11:37:14Z [Term] id: HP:0011931 name: Abnormal cerebellar peduncle morphology def: "An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cerebellar peduncle" EXACT [] xref: UMLS:C4023121 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0012501 ! Abnormal brainstem white matter morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T01:02:57Z [Term] id: HP:0011932 name: Abnormal superior cerebellar peduncle morphology def: "An anomaly of the superior cerebellar peduncle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the superior cerebellar peduncle" EXACT [] xref: UMLS:C4023120 is_a: HP:0007361 ! Abnormal pons morphology is_a: HP:0011931 ! Abnormal cerebellar peduncle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T01:26:47Z [Term] id: HP:0011933 name: Elongated superior cerebellar peduncle def: "Increased length of the superior cerebellar peduncle." [https://orcid.org/0000-0002-0736-9199] synonym: "Elongated superior cerebellar peduncles" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Long cerebellar peduncle" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Long cerebellar peduncles" EXACT [] xref: UMLS:C3810214 xref: UMLS:C4021109 is_a: HP:0011932 ! Abnormal superior cerebellar peduncle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T01:31:13Z [Term] id: HP:0011934 name: Dilatation of mesenteric artery def: "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery ." [https://orcid.org/0000-0002-0736-9199] comment: Aneurysm is considered a severe form of dilatation. synonym: "Mesenteric artery aneurysm" NARROW [] xref: UMLS:C4023119 is_a: HP:0002636 ! Dilatation of an abdominal artery property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T01:48:30Z [Term] id: HP:0011935 name: Decreased urinary urate def: "Decreased concentration of urate in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. xref: UMLS:C4023118 is_a: HP:0012610 ! Abnormality of urinary uric acid level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T02:19:49Z [Term] id: HP:0011936 name: Decreased plasma total carnitine def: "A decreased concentration of total carnitine in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased plasma total carnitine" EXACT layperson [] xref: UMLS:C4023117 is_a: HP:0003234 ! Decreased circulating carnitine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T04:20:17Z [Term] id: HP:0011937 name: Hypoplastic fifth toenail def: "Underdeveloped nails of the fifth toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Small fifth toenail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped fifth toenail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023116 is_a: HP:0001800 ! Hypoplastic toenails property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T04:27:42Z [Term] id: HP:0011939 name: 3-4 finger cutaneous syndactyly def: "A soft tissue continuity in the A/P axis between fingers 3 and 4." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023115 is_a: HP:0010554 ! Cutaneous finger syndactyly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T05:13:51Z [Term] id: HP:0011940 name: Anterior wedging of T12 def: "An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior wedging of the 12th thoracic vertebra" EXACT [] synonym: "Wedge-shaped 12th thoracic vertebra" EXACT [] xref: UMLS:C4021108 is_a: HP:0008422 ! Vertebral wedging property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T06:07:54Z [Term] id: HP:0011941 name: Anterior wedging of L2 def: "An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023114 is_a: HP:0008422 ! Vertebral wedging property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-10T06:10:08Z [Term] id: HP:0011942 name: Increased urinary sulfite level def: "The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1848957 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-11T07:36:01Z [Term] id: HP:0011943 name: Increased urinary thiosulfate def: "Increased concentration of thiosulfate(2-) in the urine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3148695 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-11T07:37:29Z [Term] id: HP:0011944 name: Small vessel vasculitis def: "A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries." [https://orcid.org/0000-0002-0736-9199, PMID:9366584] xref: UMLS:C4023113 is_a: HP:0034784 ! Vasculitis by anatomical site property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-11T07:58:21Z [Term] id: HP:0011945 name: Bronchiolitis obliterans organizing pneumonia def: "Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199, PMID:20858818] synonym: "BOOP" EXACT abbreviation [] synonym: "Bronchiolitis obliterans organising pneumonia" EXACT uk_spelling [] synonym: "Cryptogenic organising pneumonia" EXACT uk_spelling [] synonym: "Cryptogenic organizing pneumonia" EXACT [] xref: SNOMEDCT_US:129458007 xref: UMLS:C0242770 is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-18T07:55:41Z [Term] id: HP:0011946 name: Bronchiolitis obliterans def: "Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways." [https://orcid.org/0000-0002-0736-9199] comment: Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia. synonym: "Constrictive bronchiolitis" EXACT [] synonym: "Obliterative bronchiolitis" EXACT [] xref: SNOMEDCT_US:40100001 xref: UMLS:C0006272 xref: UMLS:C2350875 is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:20:58Z [Term] id: HP:0011947 name: Respiratory tract infection def: "An infection of the upper or lower respiratory tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory infection" EXACT layperson [] synonym: "Respiratory infections" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Respiratory tract infection" EXACT layperson [] xref: SNOMEDCT_US:275498002 xref: UMLS:C0035243 is_a: HP:0002088 ! Abnormal lung morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:26:36Z [Term] id: HP:0011948 name: Recurrent acute respiratory tract infection def: "A history of repeated acute infections of the upper or lower respiratory tract." [HPO_CONTRIBUTOR:DDD_tkuijpers] synonym: "Acute respiratory tract infection" EXACT layperson [] xref: UMLS:C1442786 is_a: HP:0002205 ! Recurrent respiratory infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:30:15Z [Term] id: HP:0011949 name: Acute infectious pneumonia def: "Acute inflammation of the lung due to an infection." [HPO_CONTRIBUTOR:DDD_tkuijpers] xref: UMLS:C4023112 is_a: HP:0002090 ! Pneumonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:33:30Z [Term] id: HP:0011950 name: Bronchiolitis def: "Inflammation of the bronchioles." [HPO_CONTRIBUTOR:DDD_tkuijpers] xref: SNOMEDCT_US:4120002 xref: UMLS:C0006271 is_a: HP:0011948 ! Recurrent acute respiratory tract infection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:36:11Z [Term] id: HP:0011951 name: Aspiration pneumonia def: "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:422588002 xref: UMLS:C0032290 is_a: HP:0002090 ! Pneumonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:40:03Z [Term] id: HP:0011952 name: Acute aspiration pneumonia def: "An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:35031000119100 xref: UMLS:C4023111 is_a: HP:0011951 ! Aspiration pneumonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:42:03Z [Term] id: HP:0011953 name: Pulmonary lymphoma def: "Lung parenchymal involvement with lymphoma." [HPO_CONTRIBUTOR:DDD_tkuijpers] xref: UMLS:C0519063 is_a: HP:0002665 ! Lymphoma is_a: HP:0100526 ! Neoplasm of the lung property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T08:45:48Z [Term] id: HP:0011954 name: Nodular regenerative hyperplasia of liver def: "Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis." [PMID:21472097] synonym: "Nodular transformation of liver" EXACT [] synonym: "Noncirrhotic nodulation" EXACT [] synonym: "Partial nodular transformation of liver" EXACT [] xref: SNOMEDCT_US:65860006 xref: SNOMEDCT_US:715140008 xref: UMLS:C1318485 is_a: HP:0410042 ! Abnormal liver morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T09:06:10Z [Term] id: HP:0011955 name: Hepatic granulomatosis def: "The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023110 is_a: HP:0002955 ! Granulomatosis is_a: HP:0410042 ! Abnormal liver morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T09:11:32Z [Term] id: HP:0011956 name: Intestinal lymphoid nodular hyperplasia def: "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [https://orcid.org/0000-0002-0736-9199, PMID:21481240] xref: UMLS:C4023109 is_a: HP:0002242 ! Abnormal intestine morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-21T09:27:07Z [Term] id: HP:0011957 name: Abnormal pectoral muscle morphology def: "An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pec muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023108 is_a: HP:0009131 ! Abnormality of the musculature of the thorax property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-22T08:06:04Z [Term] id: HP:0011958 name: Retinal perforation def: "A small hole through the whole thickness of the retina." [https://orcid.org/0000-0002-0736-9199] comment: Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes. synonym: "Retinal tear" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Torn retina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:232003005 xref: SNOMEDCT_US:302888003 xref: SNOMEDCT_US:40024006 xref: SNOMEDCT_US:95690009 xref: UMLS:C0035321 is_a: HP:0000479 ! Abnormal retinal morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-07T11:24:39Z [Term] id: HP:0011959 name: Unilateral hypoplasia of pectoralis major muscle def: "Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest." [https://orcid.org/0000-0002-0736-9199] synonym: "Small pec muscle on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped pec muscle on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023107 is_a: HP:0011957 ! Abnormal pectoral muscle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-06-22T08:13:12Z [Term] id: HP:0011960 name: Substantia nigra gliosis def: "Focal proliferation of glial cells in the substantia nigra." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1846865 is_a: HP:0002171 ! Gliosis is_a: HP:0045007 ! Abnormal substantia nigra morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-16T11:50:42Z [Term] id: HP:0011961 name: Non-obstructive azoospermia def: "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [https://orcid.org/0000-0002-0736-9199, PMID:20514278] synonym: "Testicular azoospermia" EXACT [] xref: UMLS:C4021107 is_a: HP:0000027 ! Azoospermia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-16T12:22:54Z [Term] id: HP:0011962 name: Obstructive azoospermia def: "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [https://orcid.org/0000-0002-0736-9199, PMID:20514278] xref: UMLS:C4023106 is_a: HP:0000027 ! Azoospermia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-16T12:25:35Z [Term] id: HP:0011963 name: Pretesticular azoospermia def: "Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels." [https://orcid.org/0000-0002-0736-9199, PMID:20514278] xref: UMLS:C4023105 is_a: HP:0000027 ! Azoospermia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-16T12:28:55Z [Term] id: HP:0011964 name: Intermittent painful muscle spasms def: "History of repeated intermittent involuntary muscle contractions that were painful." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023104 is_a: HP:0003394 ! Muscle spasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-16T01:17:16Z [Term] id: HP:0011965 name: Abnormal circulating citrulline concentration def: "Any deviation from the normal concentration of citrulline in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. xref: UMLS:C4023103 is_a: HP:0033109 ! Abnormal circulating non-proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:21:59Z [Term] id: HP:0011966 name: Elevated plasma citrulline def: "An increased concentration of citrulline in the blood." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023102 is_a: HP:0011965 ! Abnormal circulating citrulline concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:23:22Z [Term] id: HP:0011967 name: Decreased circulating copper concentration def: "A reduced concentration of copper in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Copper deficiency" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypocupremia" EXACT [] synonym: "Reduced serum copper" EXACT [] xref: SNOMEDCT_US:19577007 xref: UMLS:C0268070 is_a: HP:0010836 ! Abnormal circulating copper concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:29:13Z [Term] id: HP:0011968 name: Feeding difficulties def: "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [https://orcid.org/0000-0002-6647-5493, PMID:34006516] comment: Difficulties with eating and drinking, resulting in decreased oral nutrition subset: hposlim_core synonym: "Decreased oral intake" EXACT [] synonym: "Feeding difficulties" EXACT layperson [] synonym: "Feeding problems" EXACT layperson [] synonym: "Poor feeding" EXACT layperson [] xref: SNOMEDCT_US:78164000 xref: UMLS:C0232466 is_a: HP:0011458 ! Abdominal symptom property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T10:25:05Z [Term] id: HP:0011969 name: Elevated circulating luteinizing hormone level alt_id: HP:0030343 def: "An elevated concentration of luteinizing hormone in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated LH level" EXACT abbreviation [] synonym: "Elevated luteinizing hormone" EXACT [] synonym: "Increased circulating luteinizing hormone level" EXACT [] xref: UMLS:C4023101 is_a: HP:0000837 ! Increased circulating gonadotropin level is_a: HP:0030345 ! Abnormal circulating luteinizing hormone concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:36:09Z [Term] id: HP:0011970 name: Cerebral amyloid angiopathy def: "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [https://orcid.org/0000-0002-0736-9199, PMID:21519520] comment: Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression. xref: SNOMEDCT_US:230724001 xref: UMLS:C0085220 is_a: HP:0011034 ! Amyloidosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:39:48Z [Term] id: HP:0011971 name: Dermatographic urticaria def: "An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [https://orcid.org/0000-0002-0736-9199] synonym: "Dermatographism" EXACT [] synonym: "Dermographism" EXACT [] synonym: "Skin writing" EXACT layperson [] xref: SNOMEDCT_US:402410006 xref: SNOMEDCT_US:402601007 xref: SNOMEDCT_US:7632005 xref: UMLS:C0343065 is_a: HP:0410134 ! Physical urticaria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:42:25Z [Term] id: HP:0011972 name: Hypoglycorrhachia def: "Abnormally low glucose concentration in the cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased CSF glucose" EXACT [] synonym: "Low glucose levels in cerebral spinal fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0598121 is_a: HP:0031884 ! Abnormal CSF glucose concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:45:55Z [Term] id: HP:0011973 name: Paroxysmal lethargy def: "Repeated episodes of sudden-onset and transient lethargy." [] synonym: "Intermittent lack of energy" EXACT [] xref: UMLS:C1847507 is_a: HP:0001254 ! Lethargy property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:48:06Z [Term] id: HP:0011974 name: Myelofibrosis def: "Replacement of bone marrow by fibrous tissue." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:52967002 xref: UMLS:C0026987 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:51:57Z [Term] id: HP:0011975 name: Aminoglycoside-induced hearing loss def: "Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics." [https://orcid.org/0000-0002-0736-9199, PMID:2669624] comment: The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth. xref: UMLS:C4023100 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T08:55:03Z [Term] id: HP:0011976 name: Elevated urinary catecholamine level def: "The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated urinary catecholamines" EXACT layperson [] xref: UMLS:C0241577 is_a: HP:0011281 ! Abnormality of urine catecholamine level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T09:07:22Z [Term] id: HP:0011977 name: Elevated urinary homovanillic acid def: "An increased concentration of homovanillic acid in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:27830764] comment: Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. Increased levels of catecholamines or catecholamine metabolites, including dopamine, homovanillic acid (HVA) and/or vanillylmandelic acid (VMA), can be detected in the urine of 90% of all patients with neuroblastoma. synonym: "Increased urinary homovanillic acid" RELATED [] xref: UMLS:C4020736 is_a: HP:0040156 ! Elevated urinary carboxylic acid property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T09:10:06Z [Term] id: HP:0011978 name: Elevated urinary vanillylmandelic acid def: "An increased concentration of vanillylmandelic acid in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urinary vanillylmandelic acid" RELATED [] xref: UMLS:C4020735 is_a: HP:0040156 ! Elevated urinary carboxylic acid property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T09:11:52Z [Term] id: HP:0011979 name: Elevated urinary dopamine level def: "The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated urinary dopamine" EXACT layperson [] xref: UMLS:C4023099 is_a: HP:0011976 ! Elevated urinary catecholamine level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T09:13:16Z [Term] id: HP:0011980 name: Cholesterol gallstones def: "Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color." [https://orcid.org/0000-0002-0736-9199, PMID:12950109, PMID:16844493] xref: UMLS:C0856727 is_a: HP:0001081 ! Cholelithiasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T09:16:15Z [Term] id: HP:0011981 name: Pigment gallstones def: "Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration." [https://orcid.org/0000-0002-0736-9199, PMID:12950109] xref: UMLS:C3278865 is_a: HP:0001081 ! Cholelithiasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T09:18:44Z [Term] id: HP:0011982 name: Black pigment gallstones def: "A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates." [https://orcid.org/0000-0002-0736-9199, PMID:12950109] xref: UMLS:C4023098 is_a: HP:0011981 ! Pigment gallstones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T09:25:05Z [Term] id: HP:0011983 name: Brown pigment gallstones def: "A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones." [https://orcid.org/0000-0002-0736-9199, PMID:12950109] xref: UMLS:C4023097 is_a: HP:0011981 ! Pigment gallstones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-18T09:26:55Z [Term] id: HP:0011984 name: Atretic gallbladder def: "Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia." [https://orcid.org/0000-0002-0736-9199] synonym: "Gallbladder atresia" EXACT [] xref: UMLS:C3277945 is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T10:26:35Z [Term] id: HP:0011985 name: Acholic stools alt_id: HP:0200112 def: "Clay colored stools lacking bile pigment." [https://orcid.org/0000-0002-0736-9199] synonym: "Acholia" EXACT [] synonym: "Clay colored stools" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Clay coloured stools" EXACT uk_spelling [] synonym: "Discolored, acholic stools" EXACT [] xref: SNOMEDCT_US:70396004 xref: UMLS:C2675627 is_a: HP:0001396 ! Cholestasis is_a: HP:0031685 ! Abnormal stool composition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T10:31:22Z [Term] id: HP:0011986 name: Ectopic ossification def: "Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist." [https://orcid.org/0000-0002-0736-9199] synonym: "Ectopic bone formation" EXACT [] synonym: "Heterotopic ossification" EXACT [] xref: MEDDRA:10065453 "Ectopic ossification" xref: SNOMEDCT_US:128491006 xref: UMLS:C0029396 is_a: HP:0011849 ! Abnormal bone ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T10:38:25Z [Term] id: HP:0011987 name: Ectopic ossification in muscle tissue def: "Formation of abnormal bony tissue within muscle tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Calcification of muscle tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023096 is_a: HP:0011986 ! Ectopic ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T10:46:03Z [Term] id: HP:0011988 name: Ectopic ossification in tendon tissue def: "Formation of abnormal bony tissue within tendon tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023095 is_a: HP:0011986 ! Ectopic ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T10:47:01Z [Term] id: HP:0011989 name: Ectopic ossification in ligament tissue def: "Formation of abnormal bony tissue within ligament tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023094 is_a: HP:0011986 ! Ectopic ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T10:48:31Z [Term] id: HP:0011990 name: Abnormal neutrophil physiology def: "Any functional abnormality of neutrophils." [https://orcid.org/0000-0002-0736-9199] comment: Abnormal response of granulocytes to stimuli. synonym: "Abnormality of neutrophil physiology" EXACT [] xref: UMLS:C4023093 is_a: HP:0001874 ! Abnormality of neutrophils is_a: HP:0033796 ! Abnormal leukocyte physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T10:56:37Z [Term] id: HP:0011991 name: Abnormal total neutrophil count def: "A deviation from the normal range of neutrophil cell counts in the circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal neutrophil cell number" EXACT [] synonym: "Abnormal neutrophil count" EXACT [] xref: UMLS:C4023092 is_a: HP:0001874 ! Abnormality of neutrophils is_a: HP:0032309 ! Abnormal granulocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T10:59:14Z [Term] id: HP:0011992 name: Abnormal neutrophil morphology def: "An abnormal form or size of neutrophils." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of neutrophil morphology" EXACT [] xref: UMLS:C4023091 is_a: HP:0001874 ! Abnormality of neutrophils property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T11:00:27Z [Term] id: HP:0011993 name: Impaired neutrophil bactericidal activity def: "A reduction in the ability of neutrophils to kill bacteria." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023090 is_a: HP:0011990 ! Abnormal neutrophil physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T11:01:32Z [Term] id: HP:0011994 name: Abnormal atrial septum morphology def: "An abnormality of the interatrial septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal interatrial septum morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the atrial septum" EXACT [] xref: Fyler:2002 xref: SNOMEDCT_US:253363004 xref: UMLS:C0344722 is_a: HP:0001671 ! Abnormal cardiac septum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T11:34:27Z [Term] id: HP:0011995 name: Atrial septal dilatation def: "A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography." [https://orcid.org/0000-0002-0736-9199, PMID:7758185] comment: Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation. synonym: "Atrial septal aneurysm" NARROW [] xref: SNOMEDCT_US:95440004 xref: UMLS:C0521533 is_a: HP:0011994 ! Abnormal atrial septum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T11:35:07Z [Term] id: HP:0011996 name: Elevated coagulation factor V activity def: "Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated factor V activity" EXACT [] synonym: "Plasma factor V elevated" EXACT [] xref: UMLS:C4021106 is_a: HP:0031899 ! Abnormal coagulation factor V activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T11:40:31Z [Term] id: HP:0011997 name: Postprandial hyperlactemia def: "Abnormally increased level of blood lactate following a meal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023089 is_a: HP:0002151 ! Increased circulating lactate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T12:06:39Z [Term] id: HP:0011998 name: Postprandial hyperglycemia def: "An increased concentration of glucose in the blood following a meal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855520 is_a: HP:0003074 ! Hyperglycemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T12:07:59Z [Term] id: HP:0011999 name: Paranoia def: "The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment." [PMID:34618805] comment: Paranoia is defined as a non-delusional state characterized by a vague sense that 'everyone and anyone' is unfavorable towards one as in 'the whole world hates me'. A persecutory delusion is, in contrast, typically fixed and focused - as in 'my neighbor is pumping poison into my house'. synonym: "Paranoia" EXACT layperson [] xref: SNOMEDCT_US:191667009 xref: UMLS:C1456784 is_a: HP:5200242 ! Cognitive distortion property_value: terms:contributor https://orcid.org/0000-0001-7062-8192 property_value: terms:contributor https://orcid.org/0000-0001-7941-2961 property_value: terms:contributor https://orcid.org/0000-0001-9221-9226 property_value: terms:contributor https://orcid.org/0000-0002-0183-1637 property_value: terms:contributor https://orcid.org/0000-0003-1785-7126 property_value: terms:contributor https://orcid.org/0000-0003-2291-6952 property_value: terms:contributor https://orcid.org/0000-0003-4958-6025 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-19T01:00:23Z [Term] id: HP:0012000 name: EEG with generalized spikes def: "EEG with generalized sharp transient waves of a duration less than 80 msec." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with generalised spikes" EXACT uk_spelling [] xref: UMLS:C2206531 is_a: HP:0011198 ! EEG with generalized epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:39:52Z [Term] id: HP:0012001 name: EEG with generalized polyspikes def: "EEG with repetitive generalized sharp transient waves of a duration less than 80 msec." [HPO_CONTRIBUTOR:jalbers] synonym: "EEG with generalised polyspikes" EXACT uk_spelling [] xref: UMLS:C4023088 is_a: HP:0011198 ! EEG with generalized epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:41:07Z [Term] id: HP:0012002 name: Experiential epileptic aura def: "Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [https://orcid.org/0000-0002-0736-9199] synonym: "Experiential aura" EXACT [] synonym: "Experiential auras" EXACT plural_form [] xref: UMLS:C4023087 is_a: HP:0033346 ! Psychic epileptic aura property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:50:13Z [Term] id: HP:0012003 name: Affective epileptic aura def: "Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [https://orcid.org/0000-0002-0736-9199] synonym: "Affective aura" EXACT [] synonym: "Affective auras" EXACT plural_form [] synonym: "Emotional aura" EXACT [] xref: UMLS:C4023086 is_a: HP:0033346 ! Psychic epileptic aura property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:52:11Z [Term] id: HP:0012004 name: Focal cognitive seizure with deja vu/jamais vu alt_id: HP:0032697 def: "A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation." [https://orcid.org/0000-0002-0736-9199, PMID:28276060] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. synonym: "Mnemonic aura" EXACT [] synonym: "Mnemonic auras" EXACT plural_form [] xref: UMLS:C4023085 is_a: HP:0012002 ! Experiential epileptic aura is_a: HP:0032680 ! Focal cognitive seizure property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:53:39Z [Term] id: HP:0012005 name: Deja vu aura def: "A subjective feeling that an experience which is occurring for the first time has been experienced before." [https://orcid.org/0000-0002-0736-9199] synonym: "Deja vu" EXACT layperson [] xref: SNOMEDCT_US:313005 xref: UMLS:C0011194 is_a: HP:0012004 ! Focal cognitive seizure with deja vu/jamais vu property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:54:16Z [Term] id: HP:0012006 name: Jamais vu aura def: "A subjective feeling that an experience which has occurred before is being experienced for the first time." [https://orcid.org/0000-0002-0736-9199] synonym: "Jamais vu" EXACT [] xref: SNOMEDCT_US:28249008 xref: UMLS:C0233803 is_a: HP:0012004 ! Focal cognitive seizure with deja vu/jamais vu property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:55:38Z [Term] id: HP:0012007 name: Focal cognitive seizure with hallucination alt_id: HP:0032703 def: "A focal cognitive seizure characterized by hallucination as the initial semiological manifestation." [https://orcid.org/0000-0002-0736-9199, PMID:28276060] comment: Hallucination is the creation of composite perceptions without the presence of external sensory stimuli, these may be visual (e.g. formed images), auditory (e.g. hearing voices) or involve other sensory modalities, without change in awareness. The sensory phenomena may be accompanied by associated emotion or interpretation e.g. a formed visual image may be accompanied by fear, or may be experienced as persecutory or with paranoia (i.e. with unjustified suspicion / mistrust). These features distinguish focal seizures with hallucinations from focal sensory seizures. synonym: "Hallucinatory aura" EXACT [] synonym: "Hallucinatory auras" EXACT plural_form [] xref: UMLS:C4023084 is_a: HP:0032680 ! Focal cognitive seizure is_a: HP:0033347 ! Cognitive epileptic aura property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:56:47Z [Term] id: HP:0012008 name: Focal cognitive seizure with illusion alt_id: HP:0032695 def: "A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation." [https://orcid.org/0000-0002-0736-9199, PMID:28276060] synonym: "Illusory aura" EXACT [] synonym: "Illusory auras" EXACT plural_form [] xref: UMLS:C4023083 is_a: HP:0032680 ! Focal cognitive seizure is_a: HP:0033347 ! Cognitive epileptic aura property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:57:32Z [Term] id: HP:0012009 name: EEG with central focal spike waves def: "EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023082 is_a: HP:0011197 ! EEG with focal spike waves is_a: HP:0033718 ! EEG with central epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:58:18Z [Term] id: HP:0012010 name: EEG with frontal focal spike waves def: "EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023081 is_a: HP:0011197 ! EEG with focal spike waves is_a: HP:0033716 ! EEG with frontal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:59:21Z [Term] id: HP:0012011 name: EEG with occipital focal spike waves def: "EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023080 is_a: HP:0011197 ! EEG with focal spike waves is_a: HP:0033720 ! EEG with occipital epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T11:59:43Z [Term] id: HP:0012012 name: EEG with parietal focal spike waves def: "EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023079 is_a: HP:0011197 ! EEG with focal spike waves is_a: HP:0033719 ! EEG with parietal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T12:00:43Z [Term] id: HP:0012013 name: EEG with temporal focal spike waves def: "EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023078 is_a: HP:0011197 ! EEG with focal spike waves is_a: HP:0033717 ! EEG with temporal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T12:01:01Z [Term] id: HP:0012014 name: EEG with central focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the central region." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023077 is_a: HP:0011193 ! EEG with focal spikes is_a: HP:0033718 ! EEG with central epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T12:01:29Z [Term] id: HP:0012015 name: EEG with frontal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023076 is_a: HP:0011193 ! EEG with focal spikes is_a: HP:0033716 ! EEG with frontal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T12:02:12Z [Term] id: HP:0012016 name: EEG with occipital focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023075 is_a: HP:0011193 ! EEG with focal spikes is_a: HP:0033720 ! EEG with occipital epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T12:02:28Z [Term] id: HP:0012017 name: EEG with parietal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023074 is_a: HP:0011193 ! EEG with focal spikes is_a: HP:0033719 ! EEG with parietal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T12:02:43Z [Term] id: HP:0012018 name: EEG with temporal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region." [HPO_CONTRIBUTOR:jalbers] xref: UMLS:C4023073 is_a: HP:0011193 ! EEG with focal spikes is_a: HP:0033717 ! EEG with temporal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-07-20T12:02:59Z [Term] id: HP:0012019 name: Lens luxation def: "Complete dislocation of the lens of the eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Completely dislocated lens" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Completely dislocated lenses" EXACT plural_form [] xref: UMLS:C0023309 is_a: HP:0001083 ! Ectopia lentis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T10:40:02Z [Term] id: HP:0012020 name: Right aortic arch def: "Aorta descends on right instead of on the left." [https://orcid.org/0000-0002-0736-9199] comment: The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm. synonym: "Right-sided aortic arch" EXACT [] xref: Fyler:2720 xref: SNOMEDCT_US:111321007 xref: SNOMEDCT_US:244229003 xref: UMLS:C0035615 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T09:25:32Z [Term] id: HP:0012021 name: Persistent patent ductus venosus def: "Persistence of blood flow through the ductus venosus for longer than the normal time after birth." [https://orcid.org/0000-0002-0736-9199, PMID:16449256] comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. xref: UMLS:C4023072 is_a: HP:0034190 ! Abnormal fetal cardiovascular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T10:10:58Z [Term] id: HP:0012022 name: Congenital portosystemic venous shunt def: "A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:253330006 xref: UMLS:C0344688 is_a: HP:0034190 ! Abnormal fetal cardiovascular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T10:16:40Z [Term] id: HP:0012023 name: Galactosuria def: "Elevated concentration of galactose in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urinary galactose level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:71690006 xref: UMLS:C0268157 is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T10:31:35Z [Term] id: HP:0012024 name: Hypergalactosemia def: "Elevated concentration of galactose in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400). synonym: "Galactosemia" RELATED [] xref: SNOMEDCT_US:190745006 xref: SNOMEDCT_US:190749000 xref: UMLS:C0016952 xref: UMLS:C4023071 is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T10:35:58Z [Term] id: HP:0012025 name: Abnormal circulating ornithine concentration def: "Deviation from the normal concentration of ornithine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs. xref: UMLS:C4023070 is_a: HP:0033109 ! Abnormal circulating non-proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T10:48:59Z [Term] id: HP:0012026 name: Hyperornithinemia def: "Increased concentration of ornithine in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood ornithine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:276426004 xref: SNOMEDCT_US:33985005 xref: UMLS:C0599035 is_a: HP:0012025 ! Abnormal circulating ornithine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T10:49:54Z [Term] id: HP:0012027 name: Laryngeal edema def: "An abnormal accumulation of fluid and swelling in the tissues of the larynx." [https://orcid.org/0000-0002-0736-9199] synonym: "Laryngeal oedema" EXACT uk_spelling [] xref: SNOMEDCT_US:51599000 xref: UMLS:C0023052 is_a: HP:0000969 ! Edema is_a: HP:0025423 ! Abnormal larynx morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-26T10:51:45Z [Term] id: HP:0012028 name: Hepatocellular adenoma def: "A benign tumor of the liver of presumably epithelial origin." [https://orcid.org/0000-0002-0736-9199] synonym: "Hepatic adenoma" EXACT [] synonym: "Liver cell adenoma" EXACT [] xref: MPATH:353 "hepatocellular adenoma" xref: SNOMEDCT_US:424263008 xref: SNOMEDCT_US:78058005 xref: UMLS:C0206669 is_a: HP:0002896 ! Neoplasm of the liver property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:24:44Z [Term] id: HP:0012029 name: Abnormal urine hormone level def: "An abnormal concentration of a hormone in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of urine hormone level" EXACT [] xref: UMLS:C4023069 is_a: HP:0000818 ! Abnormality of the endocrine system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:29:51Z [Term] id: HP:0012030 name: Increased urinary cortisol level def: "Abnormally increased concentration of cortisol in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine cortisol level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023068 is_a: HP:0012029 ! Abnormal urine hormone level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:30:44Z [Term] id: HP:0012031 name: Lipomatous tumor synonym: "Lipomatous tumour" EXACT uk_spelling [] xref: MPATH:415 "lipomatous tumor" xref: SNOMEDCT_US:115227001 xref: SNOMEDCT_US:254827004 xref: SNOMEDCT_US:254831005 xref: UMLS:C0206631 is_a: HP:0200013 ! Neoplasm of fatty tissue property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:32:28Z [Term] id: HP:0012032 name: Lipoma def: "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417] subset: hposlim_core synonym: "Fatty lump" EXACT layperson [] synonym: "Noncancerous fatty lump" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10024612 "Lipoma" xref: MPATH:417 "lipoma" xref: SNOMEDCT_US:46720004 xref: SNOMEDCT_US:93163002 xref: UMLS:C0023798 is_a: HP:0012031 ! Lipomatous tumor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:33:13Z [Term] id: HP:0012033 name: Sacral lipoma def: "Presence of a lipoma in the region of the sacrum." [https://orcid.org/0000-0002-0736-9199, PMID:30264029] comment: For an example, see Figure 1 of PMID:30264029. xref: UMLS:C4021835 is_a: HP:6000590 ! Spinal lipoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:37:57Z [Term] id: HP:0012034 name: Liposarcoma def: "Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway." [MPATH:418] xref: MPATH:418 "Liposarcoma" xref: SNOMEDCT_US:254829001 xref: SNOMEDCT_US:49430005 xref: UMLS:C0023827 is_a: HP:0012031 ! Lipomatous tumor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:40:25Z [Term] id: HP:0012035 name: Steatocystoma multiplex def: "Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities)." [https://orcid.org/0000-0002-0736-9199, PMID:20631281] comment: Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement. xref: SNOMEDCT_US:109433009 xref: UMLS:C0259771 is_a: HP:0008069 ! Neoplasm of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:45:14Z [Term] id: HP:0012036 name: Sternocleidomastoid amyotrophy def: "Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023067 is_a: HP:0003202 ! Skeletal muscle atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:51:24Z [Term] id: HP:0012037 name: Pectoralis amyotrophy def: "Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases." [https://orcid.org/0000-0002-0736-9199] synonym: "Wasting of pec muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023066 is_a: HP:0003202 ! Skeletal muscle atrophy is_a: HP:0011957 ! Abnormal pectoral muscle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T01:55:38Z [Term] id: HP:0012038 name: Corneal guttata def: "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible." [https://orcid.org/0000-0002-0736-9199, PMID:10611102, PMID:11222329] comment: Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy. synonym: "Corneal endothelial guttata" EXACT [] synonym: "Corneal guttae" EXACT [] xref: SNOMEDCT_US:373424008 xref: UMLS:C0271288 is_a: HP:0011490 ! Abnormal Descemet membrane morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T02:06:24Z [Term] id: HP:0012039 name: Descemet Membrane Folds def: "Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:193821003 xref: UMLS:C0155116 is_a: HP:0011490 ! Abnormal Descemet membrane morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T02:14:55Z [Term] id: HP:0012040 name: Corneal stromal edema def: "Abnormal accumulation of fluid and swelling of the stroma of cornea." [https://orcid.org/0000-0002-0736-9199] synonym: "Corneal stromal oedema" EXACT uk_spelling [] xref: SNOMEDCT_US:373430008 xref: UMLS:C0474444 is_a: HP:0000969 ! Edema is_a: HP:0011492 ! Abnormal corneal stroma morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-27T02:19:25Z [Term] id: HP:0012041 name: Decreased fertility in males synonym: "Decreased fertility in males" EXACT layperson [] xref: UMLS:C0151640 is_a: HP:0000144 ! Decreased fertility property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-07-30T06:50:19Z [Term] id: HP:0012042 name: Aspirin-induced asthma def: "A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction." [PMID:12743549] synonym: "Aspirin-induced asthma" EXACT layperson [] xref: SNOMEDCT_US:407674008 xref: UMLS:C1319853 is_a: HP:0002099 ! Asthma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T11:22:04Z [Term] id: HP:0012043 name: Pendular nystagmus def: "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [https://orcid.org/0000-0002-0736-9199] synonym: "Nystagmus, continuous pendular" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Nystagmus, pendular" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:35743001 xref: UMLS:C0271388 xref: UMLS:C4020734 is_a: HP:0000639 ! Nystagmus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:04:00Z [Term] id: HP:0012044 name: Seesaw nystagmus def: "Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements." [https://orcid.org/0000-0002-0736-9199] comment: Seesaw nystagmus can be a manifestation of lesions of the optic chiasma. xref: SNOMEDCT_US:95782001 xref: UMLS:C0344243 is_a: HP:0012043 ! Pendular nystagmus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:06:36Z [Term] id: HP:0012045 name: Retinal flecks def: "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions." [PMID:7952338] xref: SNOMEDCT_US:247138002 xref: UMLS:C0423414 is_a: HP:0030506 ! Yellow/white lesions of the retina property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:17:00Z [Term] id: HP:0012046 name: Areflexia of upper limbs def: "Inability to elicit tendon reflexes in the upper limbs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2674177 is_a: HP:0001284 ! Areflexia is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:24:31Z [Term] id: HP:0012047 name: Hemeralopia def: "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [https://orcid.org/0000-0002-0736-9199] synonym: "Day blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:399323001 xref: UMLS:C0018975 is_a: HP:0000504 ! Abnormality of vision property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:26:28Z [Term] id: HP:0012048 name: Oromandibular dystonia alt_id: HP:0001494 def: "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [https://orcid.org/0000-0002-0736-9199] synonym: "Cranial dystonia" EXACT [] xref: UMLS:C2242577 is_a: HP:0012179 ! Craniofacial dystonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:29:50Z [Term] id: HP:0012049 name: Laryngeal dystonia def: "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [https://orcid.org/0000-0002-0736-9199] synonym: "Spasmodic dysphonia" EXACT [] xref: SNOMEDCT_US:3331000119108 xref: UMLS:C1963946 is_a: HP:0001618 ! Dysphonia is_a: HP:0004373 ! Focal dystonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:34:41Z [Term] id: HP:0012050 name: Anasarca def: "An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space." [https://orcid.org/0000-0002-0736-9199] synonym: "Extreme generalised oedema" EXACT uk_spelling [] synonym: "Extreme generalized edema" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:16740003 xref: SNOMEDCT_US:442433009 xref: UMLS:C0151603 is_a: HP:0007430 ! Generalized edema property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:53:48Z [Term] id: HP:0012051 name: Reactive hypoglycemia def: "Hypoglycermia following a meal (or more generally, after intake of glucose)." [https://orcid.org/0000-0002-0736-9199] comment: Reactive hypoglycemia may be the result of an exaggerated insulin response. synonym: "Low blood sugar after a meal" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Postprandial hypoglycemia" EXACT [] xref: SNOMEDCT_US:237638000 xref: SNOMEDCT_US:317006 xref: UMLS:C0271710 is_a: HP:0001943 ! Hypoglycemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T12:57:57Z [Term] id: HP:0012052 name: Low serum calcitriol def: "A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [https://orcid.org/0000-0002-0736-9199] synonym: "Low serum 1,25-dihydroxycholecalciferol" EXACT [] synonym: "Low serum 1,25-dihydroxyvitamin D3" EXACT [] xref: UMLS:C4023065 is_a: HP:0100511 ! Abnormality of vitamin D metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T01:02:39Z [Term] id: HP:0012053 name: Decreased circulating calcifediol concentration def: "A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased 25-hydroxyvitamin D3" EXACT [] synonym: "Low serum 25-hydroxycholecalciferol" EXACT [] synonym: "Low serum calcidiol" EXACT [] synonym: "Low serum calcifediol" EXACT [] xref: UMLS:C4023064 is_a: HP:0100511 ! Abnormality of vitamin D metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T01:04:42Z [Term] id: HP:0012054 name: Choroidal melanoma def: "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [https://orcid.org/0000-0002-0736-9199, PMID:22557869] xref: NCIT:C3224 xref: SNOMEDCT_US:255021005 xref: UMLS:C0346388 is_a: HP:0007716 ! Uveal melanoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T01:59:00Z [Term] id: HP:0012055 name: Ciliary body melanoma def: "Malignant tumor of melanocytes of the ciliary body." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3224 xref: SNOMEDCT_US:255015006 xref: UMLS:C0346379 is_a: HP:0007716 ! Uveal melanoma is_a: HP:0012776 ! Abnormal ciliary body morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T02:01:02Z [Term] id: HP:0012056 name: Cutaneous melanoma def: "The presence of a melanoma of the skin." [https://orcid.org/0000-0002-0736-9199] comment: The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma. xref: NCIT:C3224 xref: SNOMEDCT_US:2092003 xref: SNOMEDCT_US:372244006 xref: UMLS:C0025202 is_a: HP:0002861 ! Melanoma is_a: HP:0008069 ! Neoplasm of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T02:04:21Z [Term] id: HP:0012057 name: Superficial spreading melanoma def: "A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:254730000 xref: SNOMEDCT_US:55320002 xref: UMLS:C0334438 is_a: HP:0012056 ! Cutaneous melanoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T02:07:52Z [Term] id: HP:0012058 name: Nodular melanoma def: "A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:2142002 xref: SNOMEDCT_US:254731001 xref: UMLS:C0334424 is_a: HP:0012056 ! Cutaneous melanoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T02:08:50Z [Term] id: HP:0012059 name: Lentigo maligna melanoma def: "A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:302837001 xref: SNOMEDCT_US:44474009 xref: UMLS:C2739810 is_a: HP:0012056 ! Cutaneous melanoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T02:16:45Z [Term] id: HP:0012060 name: Acral lentiginous melanoma def: "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:16974005 xref: SNOMEDCT_US:254732008 xref: UMLS:C0346037 is_a: HP:0012056 ! Cutaneous melanoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-01T02:17:02Z [Term] id: HP:0012061 name: Urinary excretion of sialylated oligosaccharides def: "Excretion of oligosaccharides conjugated to sialic acid in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urinary sialyloligosaccharides" EXACT [] xref: UMLS:C2673302 is_a: HP:0010471 ! Oligosacchariduria property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-04T02:14:44Z [Term] id: HP:0012062 name: Bone cyst alt_id: HP:0100696 def: "A fluid filled cavity that develops with a bone." [https://orcid.org/0000-0002-0736-9199] comment: Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture. synonym: "Bone cyst" EXACT layperson [] synonym: "Bone cysts" EXACT layperson [] xref: SNOMEDCT_US:112643007 xref: SNOMEDCT_US:203465002 xref: SNOMEDCT_US:203467005 xref: SNOMEDCT_US:66954000 xref: UMLS:C0005937 is_a: HP:0003330 ! Abnormal bone structure property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-03T02:35:39Z [Term] id: HP:0012063 name: Aneurysmal bone cyst def: "Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging." [https://orcid.org/0000-0002-0736-9199, PMID:22474093, PMID:7863874] xref: SNOMEDCT_US:203468000 xref: SNOMEDCT_US:76000001 xref: UMLS:C0152244 is_a: HP:0012062 ! Bone cyst property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-03T02:35:52Z [Term] id: HP:0012064 name: Unicameral bone cyst def: "A benign fluid filled simple cyst of bone filled with serous fluid." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:112643007 xref: SNOMEDCT_US:203467005 xref: UMLS:C4082185 is_a: HP:0012062 ! Bone cyst property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-03T02:42:14Z [Term] id: HP:0012065 name: Multiple bony cystic lesions def: "Presence of multiple cystic changes in multiple areas or multiple bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple bony cystic lesions" EXACT layperson [] xref: UMLS:C4023063 is_a: HP:0012062 ! Bone cyst property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-03T02:45:09Z [Term] id: HP:0012066 name: Increased urinary disaccharide excretion def: "Increased concentration of disaccharide in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine. xref: UMLS:C4023062 is_a: HP:0010471 ! Oligosacchariduria property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-04T02:54:28Z [Term] id: HP:0012067 name: Glycopeptiduria def: "Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues." [https://orcid.org/0000-0002-0736-9199] comment: This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties. synonym: "High urine glycopeptide levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023061 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-04T03:03:03Z [Term] id: HP:0012068 name: Aspartylglucosaminuria def: "Excretion of excess amounts of aspartylglucosamine in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine aspartylglucosamine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:54954004 xref: UMLS:C0268225 is_a: HP:0012067 ! Glycopeptiduria property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-04T03:15:37Z [Term] id: HP:0012069 name: Keratan sulfate excretion in urine def: "An increased concentration of keratan sulfate in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Keratan sulfate is a a glycosaminoglycan. synonym: "Keratan sulphate excretion in urine" EXACT uk_spelling [] xref: UMLS:C4023060 is_a: HP:0008155 ! Mucopolysacchariduria property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-04T03:20:15Z [Term] id: HP:0012070 name: Chondroitin sulfate excretion in urine def: "An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage. synonym: "Chondroitin sulphate excretion in urine" EXACT uk_spelling [] xref: UMLS:C4023059 is_a: HP:0008155 ! Mucopolysacchariduria property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-04T03:22:36Z [Term] id: HP:0012071 name: Abnormal circulating acylcarnitine concentration def: "Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine." [https://orcid.org/0000-0002-0736-9199, PMID:18281923, PMID:23258903, PMID:6348429] comment: Acylcarnitines are esters of l-carnitine and fatty acids. Therefore, it is inferred that the number of acylcarnitines that may be formed with these fatty acids is very considerable. Similar to fatty acids, acylcarnitines are also differed by length of the acyl groups, often categorized as short, medium and long-chain acylcarnitines (simply marked as SCACs, MCACs and LCACs). Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases. synonym: "Abnormal acetylcarnitine profile" RELATED [] synonym: "Abnormal circulating esterified carnitine concentration" EXACT [] xref: UMLS:C4020733 xref: UMLS:C4023058 is_a: HP:0010966 ! Abnormal circulating fatty-acid anion concentration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-11T09:03:41Z [Term] id: HP:0012072 name: Aciduria def: "Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration." [https://orcid.org/0000-0002-0736-9199] synonym: "Acidic urine" EXACT layperson [] xref: SNOMEDCT_US:21806007 xref: UMLS:C0278026 is_a: HP:0032943 ! Abnormal urine pH [Term] id: HP:0012073 name: Abnormal urinary acylglycine profile def: "An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution." [https://orcid.org/0000-0002-0736-9199, PMID:10870848] comment: N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders. xref: UMLS:C4023057 is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-11T09:46:03Z [Term] id: HP:0012074 name: Tonic pupil def: "An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Adie pupil" EXACT [] synonym: "Adie's tonic pupil" EXACT [] xref: SNOMEDCT_US:24225004 xref: UMLS:C0040416 is_a: HP:0007686 ! Abnormal pupillary function property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-11T09:58:20Z [Term] id: HP:0012075 name: Personality disorder def: "A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society." [] comment: A personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work, and school. It usually manifests since childhood or adolescence and continues throughout adulthood. xref: ICD-10:F60 "Specific personality disorders" xref: SNOMEDCT_US:33449004 xref: UMLS:C0031212 is_a: HP:0031466 ! Impairment in personality functioning property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-11T02:20:27Z [Term] id: HP:0012076 name: Borderline personality disorder def: "A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness." [] synonym: "BPD" EXACT abbreviation [] synonym: "Emotionally unstable personality disorder" EXACT [] synonym: "EUPD" EXACT abbreviation [] xref: ICD-10:F60.3 "Emotionally unstable personality disorder, borderline type" xref: SNOMEDCT_US:20010003 xref: UMLS:C0006012 is_a: HP:0012075 ! Personality disorder property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-11T02:26:02Z [Term] id: HP:0012077 name: Histrionic personality disorder def: "A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention." [ICD-10:F60.4] xref: ICD-10:F60.4 "Histrionic personality disorder" xref: SNOMEDCT_US:55341008 xref: UMLS:C0019681 is_a: HP:0012075 ! Personality disorder property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-11T02:38:39Z [Term] id: HP:0012078 name: Motor conduction block def: "Blockade of impulses at a focal site along the course of a motor axon." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023056 is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040131 ! Abnormal motor nerve conduction velocity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-18T04:34:49Z [Term] id: HP:0012079 name: Abnormality of central motor conduction def: "Any anomaly of the conduction of motor nerve impulses in the central nervous system." [https://orcid.org/0000-0002-0736-9199, PMID:3572430] comment: Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibers in the corticospinal tracts. xref: UMLS:C4023055 is_a: HP:0011442 ! Abnormal central motor function property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-18T04:41:05Z [Term] id: HP:0012080 name: Cerebellar granular layer atrophy def: "Atrophy of the cerebellum affecting primarily the granular cell layer." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023054 is_a: HP:0001272 ! Cerebellar atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-18T05:23:55Z [Term] id: HP:0012081 name: Enlarged cerebellum def: "An abnormally increased size of the cerebellum compared to other brain structures." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3278024 is_a: HP:0001317 ! Abnormal cerebellum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-18T05:29:26Z [Term] id: HP:0012082 name: Cerebellar Purkinje layer atrophy def: "Atrophy of the cerebellum affecting primarily the Purkinje cell layer." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023053 is_a: HP:0001272 ! Cerebellar atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-18T05:31:43Z [Term] id: HP:0012083 name: Ubiquitin-positive cerebral inclusion bodies def: "Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023052 is_a: HP:0100314 ! Cerebral inclusion bodies property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-18T05:34:56Z [Term] id: HP:0012084 name: Abnormality of skeletal muscle fiber size def: "Any abnormality of the size of the skeletal muscle cell." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of skeletal muscle fibre size" EXACT uk_spelling [] xref: UMLS:C4023051 is_a: HP:0004303 ! Abnormal muscle fiber morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T03:19:54Z [Term] id: HP:0012085 name: Pyuria def: "The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase." [https://orcid.org/0000-0002-0736-9199, PMID:25760357] synonym: "High urine neutrophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Leukocyturia" RELATED [] xref: SNOMEDCT_US:275765006 xref: SNOMEDCT_US:4800001 xref: UMLS:C0034359 is_a: HP:0012614 ! Abnormal urine cytology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:10:26Z [Term] id: HP:0012086 name: Abnormal urinary color def: "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal urinary color" EXACT layperson [] synonym: "Abnormal urine color" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal urine colour" EXACT uk_spelling [] xref: SNOMEDCT_US:102867009 xref: SNOMEDCT_US:167239007 xref: UMLS:C0522153 is_a: HP:0033072 ! Abnormal macroscopic urine appearance property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:12:30Z [Term] id: HP:0012087 name: Abnormal mitochondrial shape def: "An anomaly in the surface contour of mitochondria." [https://orcid.org/0000-0002-0736-9199, MP:0011633] xref: UMLS:C4023050 is_a: HP:0008322 ! Abnormal mitochondrial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-08T11:02:39Z [Term] id: HP:0012088 name: Abnormal urinary odor def: "A deviation from the normal odor of the urine." [https://orcid.org/0000-0002-0736-9199] comment: Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. synonym: "Abnormal urinary odor" EXACT layperson [] synonym: "Abnormal urine smell" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:8769003 xref: UMLS:C0278045 is_a: HP:0033072 ! Abnormal macroscopic urine appearance property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:13:26Z [Term] id: HP:0012089 name: Arteritis def: "Arterial inflammation." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:52089001 xref: UMLS:C0003860 is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:15:19Z [Term] id: HP:0012090 name: Abnormal pancreas morphology synonym: "Abnormality of pancreas morphology" EXACT [] synonym: "Abnormally shaped pancreas" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4023049 is_a: HP:0001732 ! Abnormality of the pancreas property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:16:38Z [Term] id: HP:0012091 name: Abnormality of pancreas physiology def: "An anomaly of the function of the pancreas." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023048 is_a: HP:0001732 ! Abnormality of the pancreas property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:17:10Z [Term] id: HP:0012092 name: Abnormality of exocrine pancreas physiology def: "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal exocrine pancreatic function" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4021103 is_a: HP:0012091 ! Abnormality of pancreas physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:17:46Z [Term] id: HP:0012093 name: Abnormality of endocrine pancreas physiology def: "A function abnormality of the endocrine pancreas." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023047 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0012091 ! Abnormality of pancreas physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:18:18Z [Term] id: HP:0012094 name: Abnormal pancreas size def: "A deviation from the normal size of the pancreas." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pancreas size" EXACT layperson [] xref: UMLS:C4023046 is_a: HP:0012090 ! Abnormal pancreas morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:19:08Z [Term] id: HP:0012095 name: Multiple joint dislocation def: "Dislocation of many joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple joint dislocations" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:287096003 xref: SNOMEDCT_US:34277002 xref: UMLS:C0332792 is_a: HP:0001373 ! Joint dislocation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:19:52Z [Term] id: HP:0012096 name: Intracranial epidermoid cyst def: "A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development." [https://orcid.org/0000-0002-0736-9199, PMID:16714456] comment: See Figure 8 in PMID:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages. xref: UMLS:C4023045 is_a: HP:0010576 ! Intracranial cystic lesion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:21:24Z [Term] id: HP:0012097 name: Intracranial dermoid cyst def: "A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands." [https://orcid.org/0000-0002-0736-9199, PMID:16714456] comment: See Figure 9 in PMID:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death. xref: UMLS:C4023044 is_a: HP:0010576 ! Intracranial cystic lesion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:22:25Z [Term] id: HP:0012098 name: Edema of the dorsum of feet def: "An abnormal accumulation of fluid beneath the skin on the back of the feet." [https://orcid.org/0000-0002-0736-9199] synonym: "Edema of dorsum of feet" EXACT [] synonym: "Oedema of dorsum of feet" EXACT uk_spelling [] synonym: "Oedema of the dorsum of feet" EXACT uk_spelling [] xref: SNOMEDCT_US:445124008 xref: UMLS:C2919341 is_a: HP:0010741 ! Pedal edema property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-08-20T09:33:33Z [Term] id: HP:0012099 name: Abnormality of circulating catecholamine level def: "An abnormal catecholamine concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Catecholamine levels abnormal" EXACT [] xref: UMLS:C4021102 is_a: HP:0003117 ! Abnormal circulating hormone concentration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-22T08:20:01Z [Term] id: HP:0012100 name: Abnormal circulating creatinine concentration def: "An abnormal concentration of creatinine in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood creatinine level" EXACT layperson [] synonym: "Abnormal circulating creatinine level" EXACT [] synonym: "Creatinine levels abnormal" EXACT layperson [] xref: UMLS:C4021101 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-22T08:40:14Z [Term] id: HP:0012101 name: Decreased serum creatinine def: "An abnormally reduced amount of creatinine in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased serum creatinine" EXACT layperson [] synonym: "Low blood creatinine level" EXACT layperson [] synonym: "Reduced creatinine levels" EXACT layperson [] xref: SNOMEDCT_US:166715006 xref: UMLS:C0428282 is_a: HP:0012100 ! Abnormal circulating creatinine concentration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-08-22T08:42:16Z [Term] id: HP:0012102 name: Abnormal mitochondrial number def: "A deviation from the normal number of mitochondria per cell." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023043 is_a: HP:0008322 ! Abnormal mitochondrial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-08T11:03:33Z [Term] id: HP:0012103 name: Abnormality of the mitochondrion def: "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration." [https://orcid.org/0000-0002-0736-9199] synonym: "Mitochondrial abnormalities" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4020732 xref: UMLS:C4023042 is_a: HP:0011017 ! Abnormal cellular physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-08T11:05:06Z [Term] id: HP:0012104 name: Parietal cortical atrophy def: "Atrophy of the parietal cortex." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023041 is_a: HP:0002120 ! Cerebral cortical atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-08T02:50:05Z [Term] id: HP:0012105 name: Occipital cortical atrophy def: "Atrophy of the occipital cortex." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023040 is_a: HP:0002120 ! Cerebral cortical atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-08T02:50:53Z [Term] id: HP:0012106 name: Rhizomelic leg shortening def: "Disproportionate shortening of the proximal segment of the leg (i.e. the femur)." [https://orcid.org/0000-0002-0736-9199] comment: This term implies that the fibula and tibia are not substantially shortened. xref: UMLS:C4023039 is_a: HP:0008905 ! Rhizomelia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-08T03:53:33Z [Term] id: HP:0012107 name: Increased fibular diameter alt_id: HP:0200082 def: "Increased width of the cross sectional diameter of the fibula." [https://orcid.org/0000-0002-0736-9199, MP:0008159] synonym: "Thick fibula" EXACT [] synonym: "Thick fibulae" EXACT [] synonym: "Wide calf bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide fibula" EXACT [] xref: UMLS:C4021100 is_a: HP:0002991 ! Abnormal fibula morphology is_a: HP:0005622 ! Broad long bones property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-08T04:03:50Z [Term] id: HP:0012108 name: Open angle glaucoma def: "A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure," [https://orcid.org/0000-0002-0736-9199, PMID:11815354] comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. synonym: "Primary open angle glaucoma" RELATED [] xref: SNOMEDCT_US:77075001 xref: UMLS:C0339573 is_a: HP:0000501 ! Glaucoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-10T05:17:24Z [Term] id: HP:0012109 name: Angle closure glaucoma alt_id: HP:0032119 def: "A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact)." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:11815354] comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. synonym: "Closed-angle glaucoma" EXACT [] synonym: "Narrow angle glaucoma" EXACT [] synonym: "Primary angle closure glaucoma" RELATED [] xref: SNOMEDCT_US:392288006 xref: UMLS:C0017606 is_a: HP:0000501 ! Glaucoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-10T05:22:48Z [Term] id: HP:0012110 name: Hypoplasia of the pons def: "Underdevelopment of the pons." [https://orcid.org/0000-0002-0736-9199] synonym: "Pontine hypoplasia" EXACT [] xref: UMLS:C1848529 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0007361 ! Abnormal pons morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-10T05:35:36Z [Term] id: HP:0012111 name: Abnormality of circulating glucocorticoid level def: "An abnormality of the concentration of a glucocorticoid in the blood." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023038 is_a: HP:0003117 ! Abnormal circulating hormone concentration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T04:22:26Z [Term] id: HP:0012112 name: Abnormal circulating corticosterone level def: "An abnormality of the concentration of corticosterone in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of circulating corticosterone level" EXACT [] xref: UMLS:C4023037 is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T04:23:55Z [Term] id: HP:0012113 name: Abnormal circulating creatine concentration def: "A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarily for muscle cells." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of creatine metabolism" EXACT layperson [] synonym: "Creatine metabolism abnormal" RELATED layperson [] xref: UMLS:C4020731 is_a: HP:0430071 ! Abnormal circulating organic compound concentration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T04:29:41Z [Term] id: HP:0012114 name: Endometrial carcinoma def: "A carcinoma of the endometrium, the mucous lining of the uterus." [https://orcid.org/0000-0002-0736-9199, NCIT:C7558] xref: SNOMEDCT_US:254878006 xref: UMLS:C0476089 is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0030126 ! Abnormal endometrium morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T04:37:32Z [Term] id: HP:0012115 name: Hepatitis def: "Inflammation of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Liver inflammation" EXACT layperson [] xref: SNOMEDCT_US:128241005 xref: UMLS:C0019158 is_a: HP:0012649 ! Increased inflammatory response is_a: HP:0410042 ! Abnormal liver morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T05:03:29Z [Term] id: HP:0012116 name: Abnormal circulating albumin concentration def: "Deviation from normal concentration of albumin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal albumin level" EXACT layperson [] xref: UMLS:C4023036 is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T05:14:53Z [Term] id: HP:0012117 name: Hyperalbuminemia def: "Elevation in the concentration of albumin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High albumin" BROAD layperson [] synonym: "High blood albumin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperalbuminaemia" EXACT [] xref: SNOMEDCT_US:119248009 xref: UMLS:C1142113 is_a: HP:0012116 ! Abnormal circulating albumin concentration property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T05:15:41Z [Term] id: HP:0012118 name: Laryngeal carcinoma def: "A carcinoma of the larynx." [https://orcid.org/0000-0002-0736-9199, NCIT:C4855] comment: Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms. synonym: "Cancer of the larynx" EXACT [] synonym: "Laryngeal cancer" EXACT [] xref: SNOMEDCT_US:276975007 xref: UMLS:C0595989 is_a: HP:0100605 ! Neoplasm of the larynx property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T05:28:05Z [Term] id: HP:0012119 name: Methemoglobinemia def: "Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:131171006 xref: SNOMEDCT_US:38959009 xref: UMLS:C0025637 is_a: HP:0011902 ! Abnormal hemoglobin property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T05:42:35Z [Term] id: HP:0012120 name: Methylmalonic aciduria def: "Increased concentration of methylmalonic acid in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. synonym: "High blood methylmalonic acid levels" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Methymalonicaciduria" EXACT [] xref: UMLS:C1855119 is_a: HP:0003215 ! Dicarboxylic aciduria property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T06:02:23Z [Term] id: HP:0012121 name: Panuveitis def: "Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:75614007 xref: UMLS:C0030343 is_a: HP:0000554 ! Uveitis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T06:23:34Z [Term] id: HP:0012122 name: Anterior uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:4927003 xref: UMLS:C0701807 is_a: HP:0000554 ! Uveitis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T06:24:32Z [Term] id: HP:0012123 name: Posterior uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [https://orcid.org/0000-0002-0736-9199] synonym: "Choroiditis" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:16553002 xref: SNOMEDCT_US:43363007 xref: UMLS:C0008526 xref: UMLS:C0042167 is_a: HP:0000554 ! Uveitis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T06:25:06Z [Term] id: HP:0012124 name: Intermediate uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the vitreous." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:314429009 xref: UMLS:C0042166 is_a: HP:0000554 ! Uveitis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T06:25:53Z [Term] id: HP:0012125 name: Prostate cancer def: "A cancer of the prostate." [https://orcid.org/0000-0002-0736-9199] synonym: "Prostatic cancer" EXACT [] xref: SNOMEDCT_US:399068003 xref: UMLS:C0376358 is_a: HP:0100787 ! Prostate neoplasm property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T06:33:32Z [Term] id: HP:0012126 name: Stomach cancer def: "A cancer arising in any part of the stomach." [https://orcid.org/0000-0002-0736-9199] synonym: "Gastric cancer" EXACT [] xref: SNOMEDCT_US:372143007 xref: UMLS:C0699791 is_a: HP:0006753 ! Neoplasm of the stomach property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T06:45:29Z [Term] id: HP:0012127 name: Uraciluria def: "Increased concentration of uracil in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine uracil levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021833 is_a: HP:0033162 ! Abnormal urinary pyrimidine level property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T06:53:53Z [Term] id: HP:0012128 name: Basal ganglia necrosis def: "Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging." [https://orcid.org/0000-0002-0736-9199, PMID:33198265] xref: UMLS:C4023035 is_a: HP:0002134 ! Abnormal basal ganglia morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2012-09-16T07:00:22Z [Term] id: HP:0012129 name: Abnormality of bone marrow stromal cells xref: UMLS:C4023034 is_a: HP:0005561 ! Abnormal bone marrow cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T07:13:26Z [Term] id: HP:0012130 name: Abnormal erythroid lineage cell morphology def: "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes." [https://orcid.org/0000-0003-2945-4463] comment: Proerythroblasts are the earliest recognizable erythroid precursors. They are followined during the process of hematopoiesis by basophilic erythroblasts, polychromatic (polychromatophilic) erythroblasts, orthochromatic erythroblasts (normoblasts), reticulocytes, and finally mature erythrocytes (red blood cells). This term encompasses structural anomalies of erythroblast precursors in the bone marrow. synonym: "Abnormality of cells of the erythroid lineage" EXACT [] xref: UMLS:C4020862 is_a: HP:0005561 ! Abnormal bone marrow cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T07:14:03Z [Term] id: HP:0012131 name: Abnormal number of erythroid precursors def: "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [https://orcid.org/0000-0003-2945-4463] xref: UMLS:C4023033 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T07:17:18Z [Term] id: HP:0012132 name: Erythroid hyperplasia def: "Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [https://orcid.org/0000-0003-2945-4463] synonym: "Bone marrow biopsy shows erythroid hyperplasia" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Bone marrow smear shows erythroid hyperplasia" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0014800 xref: UMLS:C1838111 xref: UMLS:C3552917 is_a: HP:0012131 ! Abnormal number of erythroid precursors property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T07:19:21Z [Term] id: HP:0012133 name: Erythroid hypoplasia def: "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [https://orcid.org/0000-0003-2945-4463] synonym: "Erythroblastopenia" EXACT [] synonym: "Erythroid hypoplasia in the bone marrow" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:167923006 xref: SNOMEDCT_US:41614006 xref: UMLS:C0178416 xref: UMLS:C0542035 is_a: HP:0012131 ! Abnormal number of erythroid precursors property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T07:21:19Z [Term] id: HP:0012134 name: Dysplastic erythropoesis xref: UMLS:C4023032 is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:01:11Z [Term] id: HP:0012135 name: Abnormal granulocytopoietic cell morphology def: "An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell." [https://orcid.org/0000-0003-2945-4463] synonym: "Abnormality of cells of the granulocytic lineage" EXACT [] xref: UMLS:C4023031 is_a: HP:0005561 ! Abnormal bone marrow cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:02:11Z [Term] id: HP:0012136 name: Dysplastic granulopoesis xref: UMLS:C4023030 is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:05:13Z [Term] id: HP:0012137 name: Abnormal number of granulocyte precursors xref: UMLS:C4023029 is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:09:13Z [Term] id: HP:0012138 name: Granulocytic hyperplasia xref: UMLS:C4023028 is_a: HP:0012137 ! Abnormal number of granulocyte precursors property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:09:36Z [Term] id: HP:0012139 name: Granulocytic hypoplasia def: "Decreased number of granulocyte precursors in the bone marrow." [https://orcid.org/0000-0003-2945-4463] xref: SNOMEDCT_US:416627004 xref: UMLS:C1534864 is_a: HP:0012137 ! Abnormal number of granulocyte precursors property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:09:56Z [Term] id: HP:0012140 name: obsolete Abnormality of cells of the lymphoid lineage is_obsolete: true replaced_by: HP:0004332 [Term] id: HP:0012142 name: Pancreatic squamous cell carcinoma def: "A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium." [https://orcid.org/0000-0002-0736-9199, PMID:19079631] synonym: "Squamous cell carcinoma of the pancreas" EXACT [] xref: UMLS:C2675993 is_a: HP:0002894 ! Neoplasm of the pancreas property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:55:24Z [Term] id: HP:0012143 name: Abnormal megakaryocyte morphology def: "Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells." [] synonym: "Abnormality of cells of the megakaryocyte lineage" EXACT [] xref: UMLS:C4023026 is_a: HP:0005561 ! Abnormal bone marrow cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:20:38Z [Term] id: HP:0012144 name: Abnormal monocyte morphology def: "Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." [] xref: UMLS:C4023025 is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:21:37Z [Term] id: HP:0012145 name: Abnormality of multiple cell lineages in the bone marrow xref: UMLS:C4023024 is_a: HP:0005561 ! Abnormal bone marrow cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:21:57Z [Term] id: HP:0012146 name: Abnormality of von Willebrand factor def: "Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [https://orcid.org/0000-0003-2945-4463] xref: UMLS:C4023023 is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:25:58Z [Term] id: HP:0012147 name: Reduced quantity of Von Willebrand factor def: "Decreased quantity of von Willebrand factor." [https://orcid.org/0000-0003-2945-4463] synonym: "Decreased von Willebrand factor" RELATED [] xref: UMLS:C1841816 xref: UMLS:C4023022 is_a: HP:0012146 ! Abnormality of von Willebrand factor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:27:00Z [Term] id: HP:0012148 name: Multiple lineage myelodysplasia def: "Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [https://orcid.org/0000-0003-2945-4463] xref: UMLS:C4023021 is_a: HP:0002863 ! Myelodysplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:33:33Z [Term] id: HP:0012149 name: Bilineage myelodysplasia def: "Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [https://orcid.org/0000-0003-2945-4463] xref: UMLS:C4023020 is_a: HP:0002863 ! Myelodysplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:39:10Z [Term] id: HP:0012150 name: Single lineage myelodysplasia def: "Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic)." [https://orcid.org/0000-0003-2945-4463] xref: UMLS:C4023019 is_a: HP:0002863 ! Myelodysplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:39:39Z [Term] id: HP:0012151 name: Hemothorax def: "The presence of blood in the pleural space." [https://orcid.org/0000-0002-0736-9199] comment: Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels. xref: SNOMEDCT_US:31892009 xref: UMLS:C0019123 is_a: HP:0002103 ! Abnormal pleura morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T08:58:32Z [Term] id: HP:0012152 name: Foveoschisis def: "Splitting of the retinal layers in the macula." [https://orcid.org/0000-0002-0736-9199] synonym: "Retinoschisis involving the fovea" EXACT [] xref: UMLS:C2674407 is_a: HP:0000493 ! Abnormal foveal morphology is_a: HP:0030502 ! Retinoschisis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-16T09:06:26Z [Term] id: HP:0012153 name: Hypotriglyceridemia def: "An decrease in the level of triglycerides in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased circulating Tg levels" EXACT abbreviation [] synonym: "Decreased plasma Tg levels" EXACT abbreviation [] synonym: "Low blood triglyceride levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0542037 is_a: HP:0045014 ! Hypolipidemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-20T06:39:11Z [Term] id: HP:0012154 name: Anhedonia def: "Decreased ability to experience or feel joy or pleasure from any experience that is usually found to be pleasurable by the individual. This applies to any of the senses, e.g., taste, smell, and sound. Food may no longer be tasty, or a musical experience may no longer be enjoyable. Anhedonia also refers to an inability to feel pleasure related to activities that an affected individual previously derived pleasure from." [] synonym: "Anhedonic" EXACT [] xref: SNOMEDCT_US:247796005 xref: SNOMEDCT_US:28669007 xref: UMLS:C0178417 is_a: HP:0031467 ! Abnormal negative emotional state property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2012-09-20T06:51:36Z [Term] id: HP:0012155 name: Decreased corneal sensation def: "Reduced ability of the cornea to respond to stimulation." [https://orcid.org/0000-0002-0736-9199] comment: Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma. synonym: "Corneal hypaesthesia" EXACT [] synonym: "Corneal hypesthesia" EXACT [] synonym: "Decreased corneal sensitivity" RELATED [] synonym: "Reduced corneal sensation" EXACT [] xref: SNOMEDCT_US:373433005 xref: UMLS:C0271292 xref: UMLS:C0859996 is_a: HP:0012373 ! Abnormal eye physiology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2013-01-04T08:36:10Z [Term] id: HP:0012156 name: Hemophagocytosis def: "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [https://orcid.org/0000-0002-0736-9199, PMID:25328776] comment: Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process). xref: SNOMEDCT_US:61070002 xref: UMLS:C0876991 is_a: HP:0004311 ! Abnormal macrophage morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-01-07T10:11:21Z [Term] id: HP:0012157 name: Subcortical cerebral atrophy def: "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [https://orcid.org/0000-0002-0736-9199, PMID:20813998] xref: UMLS:C4023018 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-01-20T11:22:50Z [Term] id: HP:0012158 name: Carotid artery dissection def: "A separation (dissection) of the layers of the carotid artery wall." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0338585 is_a: HP:0005344 ! Abnormal carotid artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-16T07:19:57Z [Term] id: HP:0012159 name: Internal carotid artery dissection def: "A separation (dissection) of the layers of the internal carotid artery wall." [https://orcid.org/0000-0002-0736-9199] comment: The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation. xref: SNOMEDCT_US:705066004 xref: UMLS:C0751815 is_a: HP:0012158 ! Carotid artery dissection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-16T07:22:28Z [Term] id: HP:0012160 name: Intracranial internal carotid artery dissection def: "A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023017 is_a: HP:0012159 ! Internal carotid artery dissection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-16T07:31:51Z [Term] id: HP:0012161 name: External carotid artery dissection def: "A separation (dissection) of the layers of the external carotid artery wall." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023016 is_a: HP:0012158 ! Carotid artery dissection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-16T07:33:34Z [Term] id: HP:0012162 name: Common carotid artery dissection def: "A separation (dissection) of the layers of the common carotid artery wall." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023015 is_a: HP:0012158 ! Carotid artery dissection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-16T07:34:14Z [Term] id: HP:0012163 name: Carotid artery dilatation def: "A dilatation (balooning or bulging out of the vessel wall) of a carotid artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Carotid artery aneurysm" NARROW [] xref: SNOMEDCT_US:233988005 xref: UMLS:C0340639 is_a: HP:0005344 ! Abnormal carotid artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-16T10:18:06Z [Term] id: HP:0012164 name: Asterixis def: "A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints." [https://orcid.org/0000-0002-0736-9199] comment: The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture. xref: SNOMEDCT_US:32838008 xref: UMLS:C0232766 is_a: HP:0100022 ! Abnormality of movement property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-16T10:20:08Z [Term] id: HP:0012165 name: Oligodactyly def: "A developmental defect resulting in the presence of fewer than the normal number of digits." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3887496 is_a: HP:0011297 ! Abnormal digit morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-16T10:44:40Z [Term] id: HP:0012166 name: Skin-picking def: "Repetitive and compulsive picking of skin which results in tissue damage." [https://orcid.org/0000-0002-0736-9199, PMID:20575652] synonym: "Compulsive skin picking" EXACT [] synonym: "Dermatillomania" EXACT [] xref: ICD-10:F63.3 "Trichotillomania" xref: UMLS:C1696701 is_a: HP:0100716 ! Self-injurious behavior property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-20T07:12:33Z [Term] id: HP:0012167 name: Hair-pulling def: "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss." [https://orcid.org/0000-0002-0736-9199] synonym: "Trichotillomania" EXACT [] xref: SNOMEDCT_US:17155009 xref: UMLS:C0040953 is_a: HP:0100716 ! Self-injurious behavior property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-20T07:16:10Z [Term] id: HP:0012168 name: Head-banging def: "Habitual striking of one's own head against a surface such as a mattress or wall of a crib." [] xref: SNOMEDCT_US:43954004 xref: UMLS:C0018672 is_a: HP:0100716 ! Self-injurious behavior is_a: HP:5200017 ! Stereotypic movements of face and head property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-20T09:33:57Z [Term] id: HP:0012169 name: Self-biting def: "Habitual biting of one's own body." [https://orcid.org/0000-0002-0736-9199] comment: Biting of one's own arms, lip, check, finger etc. xref: SNOMEDCT_US:248072009 xref: UMLS:C0424375 is_a: HP:0100716 ! Self-injurious behavior property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-20T09:36:42Z [Term] id: HP:0012170 name: Nail-biting def: "Habitual biting of one's own fingernails." [] synonym: "Nail-biting" EXACT layperson [] synonym: "Onychophagia" EXACT [] synonym: "Onychophagy" EXACT [] xref: ICD-10:F98.8 xref: SNOMEDCT_US:37298006 xref: UMLS:C0027338 is_a: HP:0000722 ! Compulsive behaviors is_a: HP:0012169 ! Self-biting property_value: terms:contributor https://orcid.org/0000-0001-6624-2975 property_value: terms:contributor https://orcid.org/0000-0002-2984-1124 property_value: terms:contributor https://orcid.org/0000-0002-4691-7362 property_value: terms:contributor https://orcid.org/0000-0002-6581-7754 property_value: terms:contributor https://orcid.org/0000-0002-7674-1767 property_value: terms:contributor https://orcid.org/0000-0003-2598-6622 property_value: terms:contributor https://orcid.org/0000-0003-4014-4490 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-20T09:40:31Z [Term] id: HP:0012171 name: Stereotypical hand wringing def: "Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement." [PMID:28838622] synonym: "Hand clasping" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Hand-wringing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Handwringing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: UMLS:C4023014 is_a: HP:5200009 ! Midline hand movements property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-20T09:44:45Z [Term] id: HP:0012172 name: Stereotypical body rocking def: "Habitual repetitive movement of the entire body, front to back or side to side." [] xref: UMLS:C4023013 is_a: HP:5200019 ! Stereotypic whole-body movements property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-20T10:17:35Z [Term] id: HP:0012173 name: Orthostatic tachycardia def: "An increase in heart rate with standing of 30 beats per minute or more." [https://orcid.org/0000-0002-0736-9199, PMID:9244228] synonym: "Postural tachycardia" EXACT [] xref: UMLS:C4021099 is_a: HP:0012332 ! Abnormal autonomic nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T09:42:20Z [Term] id: HP:0012174 name: Glioblastoma multiforme alt_id: HP:0100843 def: "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [https://orcid.org/0000-0002-0736-9199, NCIT:C3058, PMID:10841526] synonym: "Glioblastoma" EXACT [] xref: SNOMEDCT_US:393563007 xref: SNOMEDCT_US:63634009 xref: UMLS:C1621958 is_a: HP:0009733 ! Glioma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T09:47:02Z [Term] id: HP:0012175 name: Resistance to activated protein C def: "Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay." [https://orcid.org/0000-0002-0736-9199, PMID:14976057] comment: The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay. synonym: "Activated protein C resistance" EXACT [] xref: SNOMEDCT_US:421527008 xref: UMLS:C0600433 is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T09:54:07Z [Term] id: HP:0012176 name: Abnormal natural killer cell morphology def: "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells." [https://orcid.org/0000-0002-0736-9199, PMID:21212348] synonym: "Abnormal NK cells" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of natural killer cells" EXACT [] xref: UMLS:C4021098 is_a: HP:0004332 ! Abnormal lymphocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T10:02:16Z [Term] id: HP:0012177 name: Abnormal natural killer cell physiology alt_id: HP:0012178 def: "Abnormal response of natural killer (NK) cells to stimuli." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal NK cell physiology" EXACT abbreviation [] synonym: "Reduced natural killer cell activity" EXACT [] xref: UMLS:C4023012 is_a: HP:0031409 ! Abnormal lymphocyte physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T10:03:37Z [Term] id: HP:0012178 name: obsolete Reduced natural killer cell activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0012177 creation_date: 2013-02-23T10:05:33Z [Term] id: HP:0012179 name: Craniofacial dystonia def: "A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal craniofacial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal craniofacial posture" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal facial muscle tone" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Distorted craniofacial posture" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial Dystonia" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1851915 xref: UMLS:C4023011 xref: UMLS:C4072883 is_a: HP:0004373 ! Focal dystonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T10:10:32Z [Term] id: HP:0012180 name: Cystic medial necrosis alt_id: HP:0200145 def: "A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells." [https://orcid.org/0000-0002-0736-9199] comment: The lesions of cystic medial necrosis are not true cysts. synonym: "Arterial cystic medial necrosis" EXACT [] xref: SNOMEDCT_US:234021009 xref: SNOMEDCT_US:42182000 xref: SNOMEDCT_US:45894003 xref: UMLS:C0392775 is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T10:17:16Z [Term] id: HP:0012181 name: Entrapment neuropathy def: "Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss." [https://orcid.org/0000-0002-0736-9199] comment: An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical constriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band. xref: SNOMEDCT_US:45781009 xref: UMLS:C1510429 is_a: HP:0009830 ! Peripheral neuropathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T10:20:59Z [Term] id: HP:0012182 name: Oropharyngeal squamous cell carcinoma def: "A squamous cell carcinoma that originates in the oropharnyx." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:423464009 xref: SNOMEDCT_US:707585008 xref: UMLS:C0280313 is_a: HP:0002860 ! Squamous cell carcinoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-23T10:28:31Z [Term] id: HP:0012183 name: Hyperplastic colonic polyposis def: "Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023010 is_a: HP:0030255 ! Large intestinal polyposis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-24T09:08:55Z [Term] id: HP:0012184 name: Increased HDL cholesterol concentration def: "An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood." [https://orcid.org/0000-0002-0736-9199] comment: The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II. synonym: "High blood HDL level" EXACT layperson [] synonym: "Hyperalphalipoproteinemia" EXACT [] synonym: "Increased circulating high-density lipoprotein levels" EXACT [] xref: SNOMEDCT_US:238080004 xref: UMLS:C0342883 is_a: HP:0010980 ! Hyperlipoproteinemia is_a: HP:0031888 ! Abnormal HDL cholesterol concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-24T09:14:45Z [Term] id: HP:0012185 name: Constrictive median neuropathy def: "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [https://orcid.org/0000-0002-0736-9199] comment: Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome. synonym: "Carpal tunnel syndrome" RELATED [] xref: UMLS:C4023009 is_a: HP:0012181 ! Entrapment neuropathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-24T09:24:32Z [Term] id: HP:0012186 name: Entrapment neuropathy of the ulnar nerve at elbow def: "An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand." [https://orcid.org/0000-0002-0736-9199] synonym: "Cubital tunnel syndrome" EXACT [] xref: UMLS:C4023008 is_a: HP:0012181 ! Entrapment neuropathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-24T09:27:57Z [Term] id: HP:0012187 name: Increased erythrocyte protoporphyrin concentration def: "Concentration of protoporphyrins in erythrocytes above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199, PMID:18760763] xref: UMLS:C4023007 is_a: HP:0034606 ! Elevated circulating porphyrin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-24T09:49:59Z [Term] id: HP:0012188 name: Hyperemesis gravidarum def: "Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight." [https://orcid.org/0000-0002-0736-9199, OMIM:603373] xref: SNOMEDCT_US:14094001 xref: UMLS:C0020450 is_a: HP:0002686 ! Pregnancy history property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-24T09:58:18Z [Term] id: HP:0012189 name: Hodgkin lymphoma def: "A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells." [https://orcid.org/0000-0002-0736-9199] synonym: "Hodgkin disease" EXACT [] synonym: "Hodgkin's lymphoma" EXACT [] xref: SNOMEDCT_US:118599009 xref: SNOMEDCT_US:118602004 xref: SNOMEDCT_US:118605002 xref: SNOMEDCT_US:118606001 xref: SNOMEDCT_US:14537002 xref: SNOMEDCT_US:46923007 xref: SNOMEDCT_US:70600005 xref: SNOMEDCT_US:74189002 xref: UMLS:C0019829 is_a: HP:0002665 ! Lymphoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-27T06:53:11Z [Term] id: HP:0012190 name: T-cell lymphoma def: "A type of lymphoma that originates in T-cells." [https://orcid.org/0000-0002-0736-9199] synonym: "T cell lymphoma" EXACT [] xref: SNOMEDCT_US:109978004 xref: SNOMEDCT_US:3172003 xref: UMLS:C0079772 is_a: HP:0012539 ! Non-Hodgkin lymphoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-27T06:56:11Z [Term] id: HP:0012191 name: B-cell lymphoma def: "A type of lymphoma that originates in B-cells." [https://orcid.org/0000-0002-0736-9199] synonym: "B cell lymphoma" EXACT [] xref: SNOMEDCT_US:109979007 xref: SNOMEDCT_US:1929004 xref: SNOMEDCT_US:413616009 xref: UMLS:C0079731 is_a: HP:0012539 ! Non-Hodgkin lymphoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-27T06:59:05Z [Term] id: HP:0012192 name: Cutaneous T-cell lymphoma def: "A type of T-cell lymphoma that exhibits malignant infiltration of the skin." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:28054005 xref: SNOMEDCT_US:400122007 xref: UMLS:C0079773 is_a: HP:0012190 ! T-cell lymphoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-27T07:03:19Z [Term] id: HP:0012193 name: Anaplastic large-cell lymphoma def: "A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:277637000 xref: SNOMEDCT_US:53237008 xref: UMLS:C0206180 is_a: HP:0012190 ! T-cell lymphoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-27T07:15:32Z [Term] id: HP:0012194 name: Episodic hemiplegia def: "Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1863061 is_a: HP:0002301 ! Hemiplegia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-02-27T07:26:26Z [Term] id: HP:0012195 name: Irregular respiration def: "Uneven rhythm of breathing." [https://orcid.org/0000-0002-0736-9199] synonym: "Irregular respiratory rhythm" EXACT [] xref: SNOMEDCT_US:248585001 xref: UMLS:C0425492 is_a: HP:0002793 ! Abnormal pattern of respiration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-11T05:10:57Z [Term] id: HP:0012196 name: Cheyne-Stokes respiration def: "An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes." [https://orcid.org/0000-0002-0736-9199] synonym: "Cheyne-Stokes breathing" EXACT [] synonym: "Periodic respiration" EXACT [] xref: SNOMEDCT_US:271824009 xref: SNOMEDCT_US:309155007 xref: UMLS:C0008039 xref: UMLS:C1313952 is_a: HP:0002793 ! Abnormal pattern of respiration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-11T07:00:56Z [Term] id: HP:0012197 name: Insulinoma def: "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [https://orcid.org/0000-0002-0736-9199, NCIT:C95598] synonym: "Pancreatic insulinoma" EXACT [] xref: SNOMEDCT_US:25324008 xref: SNOMEDCT_US:302822000 xref: UMLS:C0021670 is_a: HP:0008261 ! Pancreatic islet cell adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-11T07:06:29Z [Term] id: HP:0012198 name: Juvenile colonic polyposis def: "The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands." [https://orcid.org/0000-0002-0736-9199, PMID:17768394, PMID:25022750] comment: A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells. xref: UMLS:C4023006 is_a: HP:0004390 ! Hamartomatous polyposis is_a: HP:0030255 ! Large intestinal polyposis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-11T07:09:42Z [Term] id: HP:0012199 name: Cluster headache def: "A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs." [https://orcid.org/0000-0002-0736-9199, PMID:21912573] comment: According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: (B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. (C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. (D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder. xref: ICD-10:G44.0 "Cluster headache syndrome" xref: SNOMEDCT_US:193031009 xref: SNOMEDCT_US:193947008 xref: SNOMEDCT_US:230473009 xref: UMLS:C0009088 is_a: HP:0002315 ! Headache property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T11:37:40Z [Term] id: HP:0012200 name: Abnormality of prothrombin def: "An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023005 is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T11:48:06Z [Term] id: HP:0012201 name: obsolete Reduced prothrombin activity is_obsolete: true replaced_by: HP:0008151 [Term] id: HP:0012202 name: Increased serum bile acid concentration def: "An increase in the concentration of bile acid in the blood." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023004 is_a: HP:0030984 ! Abnormal serum bile acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T11:56:40Z [Term] id: HP:0012203 name: Onychomycosis def: "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:414941008 xref: UMLS:C0040261 is_a: HP:0002841 ! Recurrent fungal infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:08:30Z [Term] id: HP:0012204 name: Recurrent vulvovaginal candidiasis def: "Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4023003 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:09:45Z [Term] id: HP:0012205 name: Globozoospermia def: "Any structural anomaly of the acrosome resulting in a round sperm head." [https://orcid.org/0000-0002-0736-9199, MP:0002686] xref: SNOMEDCT_US:236818008 xref: UMLS:C0403825 is_a: HP:0012865 ! Abnormal sperm head morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:21:08Z [Term] id: HP:0012206 name: Abnormal sperm motility def: "An anomaly of the mobility of ejaculated sperm." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal sperm motility" EXACT layperson [] xref: UMLS:C0855512 is_a: HP:0034809 ! Abnormal sperm physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:23:21Z [Term] id: HP:0012207 name: Reduced sperm motility def: "An abnormal reduction in the mobility of ejaculated sperm." [https://orcid.org/0000-0002-0736-9199] synonym: "Asthenospermia" EXACT [] synonym: "Asthenozoospermia" EXACT [] synonym: "Reduced sperm motility" EXACT layperson [] xref: UMLS:C4023002 is_a: HP:0012206 ! Abnormal sperm motility property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:23:59Z [Term] id: HP:0012208 name: Immotile sperm def: "A lack of mobility of ejaculated sperm." [https://orcid.org/0000-0002-0736-9199] synonym: "Nonmotile sperm" EXACT [] xref: UMLS:C4023001 is_a: HP:0012207 ! Reduced sperm motility property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:24:28Z [Term] id: HP:0012209 name: Juvenile myelomonocytic leukemia def: "Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor." [https://orcid.org/0000-0002-0736-9199, PMID:18954903] synonym: "Juvenile myelomonocytic leukaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:128832006 xref: SNOMEDCT_US:277587001 xref: SNOMEDCT_US:445227008 xref: UMLS:C0349639 is_a: HP:0012324 ! Myeloid leukemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-12T12:27:41Z [Term] id: HP:0012210 name: Abnormal renal morphology alt_id: HP:0000792 alt_id: HP:0004726 alt_id: HP:0004735 alt_id: HP:0008712 def: "Any structural anomaly of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal kidney morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormally shaped kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Kidney malformation" EXACT layperson [] synonym: "Kidney structure issue" EXACT layperson [] synonym: "Renal malformation" EXACT [] synonym: "Structural anomalies of the renal tract" EXACT [] synonym: "Structural kidney abnormalities" EXACT layperson [] synonym: "Structural renal anomalies" EXACT [] xref: Fyler:4512 xref: SNOMEDCT_US:44513007 xref: UMLS:C0266292 is_a: HP:0000077 ! Abnormality of the kidney property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T07:41:11Z [Term] id: HP:0012211 name: Abnormal renal physiology alt_id: HP:0000082 alt_id: HP:0000087 alt_id: HP:0005566 alt_id: HP:0008646 def: "An abnormal functionality of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal kidney function" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal renal function" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of renal physiology" EXACT [] synonym: "Kidney function issue" EXACT layperson [] synonym: "Renal functional abnormality" EXACT [] xref: SNOMEDCT_US:39539005 xref: UMLS:C0151746 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0011277 ! Abnormality of the urinary system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T07:43:34Z [Term] id: HP:0012212 name: Abnormal glomerular filtration rate def: "An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [https://orcid.org/0000-0002-0736-9199, PMID:25710660] comment: Glomerular filtration, the first step in urine formation, is the passive process of ultrafiltration of plasma from blood into Bowman's space as it traverses the glomerular capillaries. Because GFR varies by body size, it is indexed relative to an average body surface area (BSA) of 1.73 m2 and expressed as ml/min/per 1.73 m2. GFR cannot be measured directly; it can be assessed from clearance measurements or estimated from serum levels of endogenous filtration markers, such as creatinine or cystatin C. Clearance measurements require either multiple measurements of serum concentrations or timed urine collections and are not routinely performed. GFR is usually estimated from serum concentrations of a marker of filtration using GFR estimating equations. synonym: "Abnormal GFR" EXACT abbreviation [] xref: UMLS:C0854050 is_a: HP:0012211 ! Abnormal renal physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T07:49:53Z [Term] id: HP:0012213 name: Decreased glomerular filtration rate alt_id: HP:0000120 def: "An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [https://orcid.org/0000-0002-0736-9199, PMID:25710660] comment: Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream. synonym: "Decreased GFR" EXACT abbreviation [] synonym: "Impaired renal creatinine clearance" EXACT [] synonym: "Reduced creatinine clearance" EXACT [] xref: UMLS:C0853068 is_a: HP:0012212 ! Abnormal glomerular filtration rate property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T07:54:30Z [Term] id: HP:0012214 name: Increased glomerular filtration rate def: "An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased GFR" EXACT abbreviation [] xref: UMLS:C0856948 is_a: HP:0012212 ! Abnormal glomerular filtration rate property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T07:55:03Z [Term] id: HP:0012215 name: Testicular microlithiasis def: "The deposition of calcium phosphate microliths within the seminiferous tubules." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:117261000119108 xref: UMLS:C1864873 is_a: HP:0000035 ! Abnormal testis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T08:07:36Z [Term] id: HP:0012216 name: Entrapment neuropathy of suprascapular nerve def: "An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region." [https://orcid.org/0000-0002-0736-9199] synonym: "Suprascapular nerve entrapment" EXACT [] xref: SNOMEDCT_US:230635000 xref: UMLS:C0393890 is_a: HP:0012181 ! Entrapment neuropathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-14T08:09:05Z [Term] id: HP:0012217 name: Increased urinary porphobilinogen def: "The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal." [https://orcid.org/0000-0002-0736-9199, PMID:11861450] comment: Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis. xref: UMLS:C4023000 is_a: HP:0003215 ! Dicarboxylic aciduria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T06:45:01Z [Term] id: HP:0012218 name: Alveolar soft part sarcoma def: "A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue." [https://orcid.org/0000-0002-0736-9199, PMID:11244503] xref: SNOMEDCT_US:404056007 xref: SNOMEDCT_US:88195001 xref: UMLS:C0206657 is_a: HP:0030448 ! Soft tissue sarcoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T06:48:50Z [Term] id: HP:0012219 name: Erythema nodosum def: "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [https://orcid.org/0000-0002-0736-9199] comment: The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. xref: SNOMEDCT_US:32861005 xref: UMLS:C0014743 is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T06:57:07Z [Term] id: HP:0012220 name: Non-caseating epithelioid cell granulomatosis def: "The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese)." [https://orcid.org/0000-0002-0736-9199] comment: This feature is a hallmark of sarcoidosis. xref: UMLS:C4022999 is_a: HP:0002955 ! Granulomatosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:04:43Z [Term] id: HP:0012221 name: Pretibial blistering def: "A type of blistering that affects the skin of the tibial region." [https://orcid.org/0000-0002-0736-9199, PMID:15265795] synonym: "Pretibial epidermolysis bullosa" EXACT [] xref: SNOMEDCT_US:67653003 xref: UMLS:C0432321 is_a: HP:0033800 ! Blistering by anatomical location property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:10:17Z [Term] id: HP:0012222 name: Arachnoid hemangiomatosis def: "The presence of multiple hemangiomas in the arachnoid." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022998 is_a: HP:0001028 ! Hemangioma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:17:01Z [Term] id: HP:0012223 name: Splenic rupture def: "A breach of the capsule of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Ruptured spleen" EXACT layperson [] synonym: "Splenic rupture" EXACT layperson [] xref: SNOMEDCT_US:234506007 xref: UMLS:C0038000 is_a: HP:0025408 ! Abnormal spleen morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:23:49Z [Term] id: HP:0012224 name: Circulating immune complexes def: "Persistence of immune complexes in the blood circulation." [https://orcid.org/0000-0002-0736-9199] comment: Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions. xref: UMLS:C3887628 is_a: HP:0005368 ! Abnormality of humoral immunity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:27:21Z [Term] id: HP:0012225 name: Oligodontia of primary teeth def: "Reduced number of primary teeth." [https://orcid.org/0000-0002-0736-9199] comment: Primary teeth are also called temporary teeth or deciduous teeth. synonym: "Decreased number of baby teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased number of deciduous teeth" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased number of milk teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased number of primary teeth" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of some deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of some primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Fewer baby teeth than normal" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fewer deciduous teeth than normal" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Fewer primary teeth than normal" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing some baby teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing some milk teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing some primary teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Partial anodontia of deciduous teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Partial anodontia of primary teeth" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4022997 xref: UMLS:C4280316 is_a: HP:0000677 ! Oligodontia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:31:16Z [Term] id: HP:0012226 name: Ovarian teratoma def: "The presence of a teratoma in the ovary." [https://orcid.org/0000-0002-0736-9199] xref: NCIT:C3403 xref: SNOMEDCT_US:716077006 xref: UMLS:C0280131 is_a: HP:0009792 ! Teratoma is_a: HP:0100615 ! Ovarian neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:34:29Z [Term] id: HP:0012227 name: Urethral stricture def: "Narrowing of the urethra associated with inflammation or scar tissue." [https://orcid.org/0000-0002-0736-9199, PMID:24346008] comment: A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). All strictures result from injury to the epithelium of the urethra or underlying corpus spongiosum, which ultimately causes fibrosis during the healing process. The pathological changes associated with strictures show that the normal pseudostratified columnar epithelium is replaced with squamous metaplasia. Small tears in this metaplastic tissue result in urinary extravasation, which causes a fibrotic reaction within the spongiosum. At the time of injury, this fibrosis can be asymptomatic; however, over time, the fibrotic process can cause further narrowing of the lumen of the urethra, resulting in symptomatic obstructive voiding. xref: SNOMEDCT_US:236647003 xref: SNOMEDCT_US:76618002 xref: UMLS:C0041974 is_a: HP:0008661 ! Urethral stenosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:37:46Z [Term] id: HP:0012228 name: Tension-type headache def: "A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs." [https://orcid.org/0000-0002-0736-9199] synonym: "Tension-type headache" EXACT layperson [] xref: ICD-10:G44.2 "Tension-type headache" xref: SNOMEDCT_US:398057008 xref: SNOMEDCT_US:66551002 xref: UMLS:C0033893 is_a: HP:0002315 ! Headache property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-30T07:50:13Z [Term] id: HP:0012229 name: CSF pleocytosis def: "An increased white blood cell count in the cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebrospinal fluid pleocytosis" EXACT [] synonym: "Increased leukocyte count in CSF" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:91454002 xref: UMLS:C0151857 is_a: HP:0002921 ! Abnormal cerebrospinal fluid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:01:55Z [Term] id: HP:0012230 name: Rhegmatogenous retinal detachment def: "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:19620000 xref: UMLS:C0271055 is_a: HP:0000541 ! Retinal detachment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:20:35Z [Term] id: HP:0012231 name: Exudative retinal detachment def: "A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] synonym: "Serous retinal detachment" EXACT [] xref: SNOMEDCT_US:38599001 xref: UMLS:C0154822 is_a: HP:0000541 ! Retinal detachment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:24:20Z [Term] id: HP:0012232 name: Shortened QT interval def: "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:77867006 xref: UMLS:C0151879 is_a: HP:0031547 ! Abnormal QT interval property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:34:21Z [Term] id: HP:0012233 name: Intramuscular hematoma def: "Blood clot formed within muscle tissue following leakage of blood into the tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "IM hematoma" EXACT abbreviation [] synonym: "Intramuscular haematoma" EXACT [] synonym: "Intramuscular hematomas" RELATED [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:262969000 xref: UMLS:C0240412 is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:38:57Z [Term] id: HP:0012234 name: Absence of circulating granulocytes def: "Absence of detectable circulating granulocytes in the blood. Usually a value of less than 50 cells per microliter is considered to be an absence." [https://orcid.org/0000-0002-0736-9199] comment: Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. synonym: "Agranulocytosis" EXACT [] xref: UMLS:C0702094 is_a: HP:0001913 ! Decreased total granulocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:42:50Z [Term] id: HP:0012235 name: Drug-induced agranulocytosis def: "Absence of detectable circulating granulocytes in the blood caused by an exposure to a drug. Usually a value of less than 50 granulocytes per microliter is considered to be an absence." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:47318007 xref: UMLS:C0272178 is_a: HP:0012234 ! Absence of circulating granulocytes property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:44:55Z [Term] id: HP:0012236 name: Elevated sweat chloride def: "An increased concentration of chloride in the sweat." [https://orcid.org/0000-0002-0736-9199] comment: Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases. synonym: "Elevated sweat chloride" EXACT layperson [] synonym: "Elevated sweat Cl" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated sweat Cl-" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C1856646 is_a: HP:0040127 ! Abnormal sweat homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:50:28Z [Term] id: HP:0012237 name: Urocanic aciduria def: "An increased concentration of urocanic acid in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine urocanic acid levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:60952007 xref: UMLS:C0268514 is_a: HP:0040156 ! Elevated urinary carboxylic acid property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T09:54:48Z [Term] id: HP:0012238 name: Increased circulating chylomicron concentration def: "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [https://orcid.org/0000-0002-0736-9199, MP:0009699] synonym: "Hyperchylomicronemia" EXACT [] synonym: "Increased chylomicrons" EXACT [] synonym: "Increased circulating chylomicron levels" EXACT [] xref: UMLS:C1535978 is_a: HP:0010980 ! Hyperlipoproteinemia is_a: HP:0031887 ! Abnormal chylomicron concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T04:17:11Z [Term] id: HP:0012239 name: Atransferrinemia def: "Absence of transferrin, a protein that transports iron, in the blood." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111571009 xref: UMLS:C0521802 is_a: HP:0032385 ! Abnormal circulating transferrin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-03-31T04:20:43Z [Term] id: HP:0012240 name: Increased intramyocellular lipid droplets def: "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images." [https://orcid.org/0000-0002-0736-9199, PMID:20691590] comment: In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibers than in type 2 fibers. synonym: "Increased muscle lipid droplets" RELATED [] xref: UMLS:C4020730 is_a: HP:0009058 ! Increased muscle lipid content property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-01T05:17:37Z [Term] id: HP:0012241 name: Levator palpebrae superioris atrophy def: "Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1851107 is_a: HP:3000072 ! Abnormal levator palpebrae superioris morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-02T06:53:20Z [Term] id: HP:0012242 name: Superior rectus atrophy def: "Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe." [https://orcid.org/0000-0002-0736-9199] synonym: "Rectus superior atrophy" EXACT [] xref: UMLS:C1851108 is_a: HP:0008049 ! Abnormality of the extraocular muscles property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-02T06:55:22Z [Term] id: HP:0012243 name: Abnormal reproductive system morphology def: "A structural or developmental anomaly of any of the tissues involved in the genital system." [https://orcid.org/0000-0002-0736-9199, MP:0002160] synonym: "Abnormal genital system morphology" EXACT [] xref: UMLS:C4021096 is_a: HP:0000078 ! Abnormality of the genital system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-02T07:02:20Z [Term] id: HP:0012244 name: Abnormal sex determination def: "Anomaly of primary or secondary sexual development or characteristics." [https://orcid.org/0000-0002-0736-9199, MP:0002210] xref: UMLS:C4022996 is_a: HP:0012243 ! Abnormal reproductive system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-02T07:03:45Z [Term] id: HP:0012245 name: Sex reversal def: "Development of the reproductive system is inconsistent with the chromosomal sex." [https://orcid.org/0000-0002-0736-9199, MP:0005652] comment: Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female. xref: UMLS:C4022995 is_a: HP:0012244 ! Abnormal sex determination property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-02T07:04:44Z [Term] id: HP:0012246 name: Oculomotor nerve palsy def: "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [https://orcid.org/0000-0002-0736-9199] synonym: "Oculomotor neuropathy" RELATED [] xref: SNOMEDCT_US:388980004 xref: UMLS:C0028866 is_a: HP:0000597 ! Ophthalmoparesis is_a: HP:0006824 ! Cranial nerve paralysis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-02T07:15:18Z [Term] id: HP:0012247 name: Specific anosmia def: "Anosmia for one particular odor." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022994 is_a: HP:0000458 ! Anosmia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-02T07:20:11Z [Term] id: HP:0012248 name: Prolonged PR interval def: "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [https://orcid.org/0000-0002-0736-9199, PMID:23677846] comment: In adults, normal values are 120 to 200 ms long. synonym: "Electrocardiographic long PR interval" EXACT [] synonym: "Lengthened PR interval on EKG" EXACT [] xref: SNOMEDCT_US:164947007 xref: UMLS:C0600125 is_a: HP:0031593 ! Abnormal PR interval property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T08:52:29Z [Term] id: HP:0012249 name: Abnormal ST segment def: "An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022993 is_a: HP:0003115 ! Abnormal EKG property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T08:56:46Z [Term] id: HP:0012250 name: ST segment depression def: "An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:26141007 xref: SNOMEDCT_US:429622005 xref: UMLS:C0520887 is_a: HP:0012249 ! Abnormal ST segment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T08:59:59Z [Term] id: HP:0012251 name: ST segment elevation def: "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [https://orcid.org/0000-0002-0736-9199] comment: ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia. xref: SNOMEDCT_US:164931005 xref: SNOMEDCT_US:76388001 xref: UMLS:C0520886 is_a: HP:0012249 ! Abnormal ST segment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:03:06Z [Term] id: HP:0012252 name: Abnormal respiratory system morphology def: "A structural anomaly of the respiratory system." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:4235 xref: UMLS:C4022992 is_a: HP:0002086 ! Abnormality of the respiratory system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:11:09Z [Term] id: HP:0012253 name: Abnormal respiratory epithelium morphology def: "Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi." [https://orcid.org/0000-0002-0736-9199, MP:0010942] xref: UMLS:C4022991 is_a: HP:0012252 ! Abnormal respiratory system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:12:48Z [Term] id: HP:0012254 name: Ewing sarcoma def: "A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones." [https://orcid.org/0000-0002-0736-9199, PMID:17272319] comment: Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low. synonym: "Ewing's sarcoma" EXACT [] xref: SNOMEDCT_US:76909002 xref: UMLS:C0553580 is_a: HP:0100242 ! Sarcoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T01:54:14Z [Term] id: HP:0012255 name: Dynein arm defect of respiratory motile cilia def: "An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:19606528] comment: The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. xref: UMLS:C4022990 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:20:03Z [Term] id: HP:0012256 name: Absent outer dynein arms def: "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:19606528] xref: UMLS:C4022989 is_a: HP:0200106 ! Absent/shortened dynein arms property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:35:55Z [Term] id: HP:0012257 name: Absent inner dynein arms def: "Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-5316-1399, PMID:19606528] xref: UMLS:C4022988 is_a: HP:0200106 ! Absent/shortened dynein arms property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:38:46Z [Term] id: HP:0012258 name: Abnormal axonemal organization of respiratory motile cilia def: "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms." [https://orcid.org/0000-0002-0736-9199, PMID:19606528] comment: Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet. synonym: "Abnormal axonemal organisation of respiratory motile cilia" EXACT uk_spelling [] xref: UMLS:C4022987 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:49:56Z [Term] id: HP:0012259 name: Absent inner and outer dynein arms def: "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:19606528] xref: UMLS:C4022986 is_a: HP:0012256 ! Absent outer dynein arms is_a: HP:0012257 ! Absent inner dynein arms property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:40:14Z [Term] id: HP:0012260 name: Abnormal central microtubular pair morphology of respiratory motile cilia def: "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [https://orcid.org/0000-0002-0736-9199, PMID:19200523] comment: The central microtubular pair is referred to as the central part of axoneme of cilium. xref: UMLS:C4022985 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T09:58:27Z [Term] id: HP:0012261 name: Abnormal respiratory motile cilium physiology def: "Any functional anomaly of the respiratory motile cilia." [https://orcid.org/0000-0002-0736-9199, MP:0011055] comment: Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency. xref: UMLS:C4022984 is_a: HP:0002795 ! Abnormal respiratory system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T10:05:43Z [Term] id: HP:0012262 name: Abnormal ciliary motility def: "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [https://orcid.org/0000-0002-0736-9199, PMID:19606528, PMID:20301301] comment: Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. xref: UMLS:C4022983 is_a: HP:0012261 ! Abnormal respiratory motile cilium physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T10:10:35Z [Term] id: HP:0012263 name: Immotile cilia xref: UMLS:C1855672 is_a: HP:0012262 ! Abnormal ciliary motility property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T10:11:17Z [Term] id: HP:0012264 name: Absent central microtubular pair morphology of respiratory motile cilia def: "Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022982 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T10:12:06Z [Term] id: HP:0012265 name: Ciliary dyskinesia def: "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [https://orcid.org/0000-0002-0736-9199, PMID:19606528] comment: Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency. synonym: "Lack of coordinated beating of respiratory cilia" EXACT [] xref: SNOMEDCT_US:86204009 xref: UMLS:C0008780 is_a: HP:0012262 ! Abnormal ciliary motility property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T10:14:07Z [Term] id: HP:0012266 name: T-wave alternans def: "A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG." [https://orcid.org/0000-0002-0736-9199, PMID:17592081] xref: SNOMEDCT_US:428550008 xref: UMLS:C1998313 is_a: HP:0005135 ! Abnormal T-wave property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T10:23:08Z [Term] id: HP:0012267 name: Absent respiratory ciliary axoneme radial spokes def: "Absence of the radial spokes of the axoneme of the respiratory cilium." [https://orcid.org/0000-0002-0736-9199, PMID:19606528] xref: UMLS:C4022981 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T01:56:53Z [Term] id: HP:0012268 name: Myxoid liposarcoma def: "A liposarcoma that contains myxomatous tissue." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:27849002 xref: SNOMEDCT_US:404069006 xref: UMLS:C0206634 is_a: HP:0012034 ! Liposarcoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T01:59:19Z [Term] id: HP:0012269 name: Abnormal muscle glycogen content def: "Any anomaly in the amount of glycogen in muscle tissue." [https://orcid.org/0000-0002-0736-9199] comment: Glycogen functions as a secondary short term energy storage in muscle. xref: UMLS:C4022980 is_a: HP:0034370 ! Abnormal muscle tissue metabolite concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T02:04:03Z [Term] id: HP:0012270 name: Decreased muscle glycogen content def: "A decreased amount of glycogen in muscle tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022979 is_a: HP:0012269 ! Abnormal muscle glycogen content property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T02:05:15Z [Term] id: HP:0012271 name: Episodic upper airway obstruction def: "Intermittent episodes of increased resistance to the passage of air in the upper airway." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022978 is_a: HP:0002781 ! Upper airway obstruction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T02:08:33Z [Term] id: HP:0012272 name: J wave def: "The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point." [https://orcid.org/0000-0002-0736-9199, PMID:19561994] comment: J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome. synonym: "EKG J waves" EXACT [] synonym: "Osborne waves" EXACT [] xref: UMLS:C4018858 is_a: HP:0003115 ! Abnormal EKG property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T02:11:05Z [Term] id: HP:0012273 name: Increased carotid artery intimal medial thickness def: "An increase in the combined thickness of the intima and media of the carotid artery." [https://orcid.org/0000-0002-0736-9199, PMID:9878640] comment: This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke. xref: UMLS:C4022977 is_a: HP:0005344 ! Abnormal carotid artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T02:16:23Z [Term] id: HP:0012274 name: Autosomal dominant inheritance with paternal imprinting def: "A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing." [https://orcid.org/0000-0002-0736-9199, PMID:18678320] comment: Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance. xref: UMLS:C4022976 is_a: HP:0034338 ! Imprinted property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T02:19:07Z [Term] id: HP:0012275 name: Autosomal dominant inheritance with maternal imprinting def: "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing." [https://orcid.org/0000-0002-0736-9199] comment: Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance. xref: UMLS:C4022975 is_a: HP:0034338 ! Imprinted property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T02:54:09Z [Term] id: HP:0012276 name: Digital flexor tenosynovitis def: "Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit." [https://orcid.org/0000-0002-0736-9199, PMID:16443118] comment: Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly. synonym: "Trigger finger" EXACT layperson [] xref: UMLS:C4022974 is_a: HP:0100261 ! Abnormal tendon morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T03:02:33Z [Term] id: HP:0012277 name: Hypoglycinemia def: "An abnormally reduced concentration of glycine in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood glycine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022973 is_a: HP:0010895 ! Abnormal circulating glycine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T03:54:41Z [Term] id: HP:0012278 name: Abnormal circulating serine concentration def: "Any deviation from the normal concentration of serine in the blood circulation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022972 is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T03:57:10Z [Term] id: HP:0012279 name: Hyposerinemia def: "Reduced concentration of serine in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood serine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022971 is_a: HP:0012278 ! Abnormal circulating serine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T03:57:25Z [Term] id: HP:0012280 name: Hepatic amyloidosis def: "A form of amyloidosis that affects the liver." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:9551004 xref: UMLS:C0267839 is_a: HP:0011034 ! Amyloidosis is_a: HP:0410042 ! Abnormal liver morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T03:59:46Z [Term] id: HP:0012281 name: Chylous ascites def: "Extravasation of chyle into the peritoneal cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Chyloperitoneum" EXACT [] xref: SNOMEDCT_US:52985009 xref: UMLS:C0008732 is_a: HP:0001541 ! Ascites property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T04:08:42Z [Term] id: HP:0012282 name: Morbilliform rash def: "An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days." [https://orcid.org/0000-0002-0736-9199] comment: A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. xref: SNOMEDCT_US:247470007 xref: SNOMEDCT_US:50495000 xref: UMLS:C0234918 is_a: HP:4000054 ! Exanthem property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-07T10:11:58Z [Term] id: HP:0012283 name: Small distal femoral epiphysis def: "Reduced size of the Distal epiphysis of femur." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of outermost thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022970 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-09T07:33:19Z [Term] id: HP:0012284 name: Small proximal tibial epiphyses def: "Reduced size of the proximal epiphysis of the tibia." [https://orcid.org/0000-0002-0736-9199] synonym: "Small end part of innermost shankbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Small end part of innermost shinbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022969 is_a: HP:0010585 ! Small epiphyses is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-09T07:36:38Z [Term] id: HP:0012285 name: Abnormal hypothalamus physiology def: "An abnormal functionality of the hypothalamus." [https://orcid.org/0000-0002-0736-9199] comment: The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. xref: UMLS:C4022968 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis is_a: HP:0010662 ! Abnormal diencephalon morphology is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-09T07:51:07Z [Term] id: HP:0012286 name: Abnormal hypothalamus morphology alt_id: HP:0002443 def: "Any structural anomaly of the hypothalamus." [https://orcid.org/0000-0002-0736-9199] comment: The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. synonym: "Abnormal shape of hypothalamus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of hypothalamus morphology" EXACT [] synonym: "Abnormality of the hypothalamus" EXACT [] xref: UMLS:C4021095 is_a: HP:0010662 ! Abnormal diencephalon morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-09T07:53:16Z [Term] id: HP:0012287 name: Hypothalamic luteinizing hormone-releasing hormone deficiency def: "Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022967 is_a: HP:0012285 ! Abnormal hypothalamus physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-09T07:54:46Z [Term] id: HP:0012288 name: Neoplasm of head and neck def: "A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx." [https://orcid.org/0000-0002-0736-9199] synonym: "Head and neck cancer" RELATED [] synonym: "Head and neck tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Head and neck tumour" EXACT uk_spelling [] xref: SNOMEDCT_US:255055008 xref: SNOMEDCT_US:255056009 xref: UMLS:C0018671 xref: UMLS:C0278996 is_a: HP:0011793 ! Neoplasm by anatomical site property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-11T05:44:24Z [Term] id: HP:0012289 name: Facial neoplasm def: "A tumor (abnormal growth of tissue) of the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Face tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Face tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126632002 xref: UMLS:C0015461 is_a: HP:0012288 ! Neoplasm of head and neck property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-11T05:46:35Z [Term] id: HP:0012290 name: obsolete Mouth neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0100649 creation_date: 2013-04-11T05:48:12Z [Term] id: HP:0012291 name: obsolete Tracheal neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0100551 creation_date: 2013-04-11T05:49:21Z [Term] id: HP:0012292 name: Fusion of gums def: "A congenital defect with an abnormal joining of the gums of the upper and lower jaw." [https://orcid.org/0000-0002-0736-9199, PMID:19858676] synonym: "Fusion of gums" EXACT layperson [] synonym: "Fusion of the gingiva" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival synechia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Partial fusion of the gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Synechia of the gums" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Upper and lower gums fused together" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4022966 is_a: HP:0000168 ! Abnormality of the gingiva property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-11T05:52:35Z [Term] id: HP:0012293 name: Abnormal genital pigmentation def: "An abnormal pigmentation pattern of the external genitalia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022965 is_a: HP:0000811 ! Abnormal external genitalia morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-11T06:02:08Z [Term] id: HP:0012294 name: Abnormal occipital bone morphology def: "Abnormality of the occipital bone of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the occipital bone" EXACT [] xref: UMLS:C4022964 is_a: HP:0002683 ! Abnormal calvaria morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-11T06:21:12Z [Term] id: HP:0012295 name: Slender middle phalanx of finger def: "Reduced diameter of the middle phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Slender middle bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022963 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-12T05:40:22Z [Term] id: HP:0012296 name: Slender distal phalanx of finger def: "Reduced diameter of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Slender outermost bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022962 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-12T05:42:46Z [Term] id: HP:0012297 name: Slender proximal phalanx of finger def: "Reduced diameter of the proximal phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Slender innermost bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022961 is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-12T05:45:35Z [Term] id: HP:0012298 name: Long middle phalanx of finger def: "Increased length of the middle phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Long middle bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022960 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-12T05:46:43Z [Term] id: HP:0012299 name: Long distal phalanx of finger def: "Increased length of the distal phalanx of finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Long outermost bone of finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021865 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-12T05:48:52Z [Term] id: HP:0012300 name: Ureteral agenesis def: "Failure of the ureter to undergo development." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022959 is_a: HP:0025633 ! Abnormal ureter morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-13T06:00:10Z [Term] id: HP:0012301 name: Type II transferrin isoform profile def: "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation." [https://orcid.org/0000-0002-0736-9199, PMID:15105360, PMID:22516080] comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal. synonym: "Abnormal isoelectric focusing of serum transferrin, type 2 pattern" RELATED [] synonym: "Abnormal isoelectric focusing of serum transferrin, type II pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with CDG type II" EXACT [] synonym: "Type 2 transferrin isoform profile" EXACT [] xref: UMLS:C4021094 is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-14T08:55:20Z [Term] id: HP:0012302 name: Herpes simplex encephalitis alt_id: HP:0020098 def: "Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction." [https://orcid.org/0000-0002-0736-9199, PMID:27106239] comment: Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV. Herpes encephalitis may occur in immunocompromised patients, but HSV-1 is consistently the single most common cause of sporadic encephalitis worldwide. synonym: "Herpes encephalitis" EXACT [] xref: SNOMEDCT_US:428638009 xref: UMLS:C0276226 is_a: HP:0033993 ! Viral encephalitis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-04-14T02:43:10Z [Term] id: HP:0012303 name: Abnormal aortic arch morphology def: "An anomaly of the arch of aorta." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the aortic arch" EXACT [] xref: Fyler:2700 xref: SNOMEDCT_US:448742006 xref: UMLS:C3163801 is_a: HP:0001679 ! Abnormal aortic morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-06T10:06:07Z [Term] id: HP:0012304 name: Hypoplastic aortic arch def: "Underdevelopment of the arch of aorta." [https://orcid.org/0000-0002-0736-9199] synonym: "Aortic arch hypoplasia" EXACT [] synonym: "Underdeveloped aortic arch" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:2704 xref: SNOMEDCT_US:60787001 xref: UMLS:C0265881 is_a: HP:0012303 ! Abnormal aortic arch morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-06T10:10:36Z [Term] id: HP:0012305 name: Coarctation of the descending aortic arch def: "Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022958 is_a: HP:0001680 ! Coarctation of aorta is_a: HP:0012303 ! Abnormal aortic arch morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-06T10:34:15Z [Term] id: HP:0012306 name: Abnormal rib ossification def: "An anomaly of the process of rib bone formation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of rib bones" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022957 is_a: HP:0000772 ! Abnormal rib morphology is_a: HP:0003336 ! Abnormal enchondral ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T09:31:03Z [Term] id: HP:0012307 name: Spatulate ribs def: "Ribs that are increased in width and taper to the posterior ends." [https://orcid.org/0000-0002-0736-9199, PMID:20504305] comment: This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name. xref: UMLS:C1856637 is_a: HP:0000885 ! Broad ribs property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T10:15:15Z [Term] id: HP:0012308 name: Decreased circulating complement C9 concentration def: "Concentration of the complement component C9 in the blood circulation below the lower limit of normal." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum C9" EXACT [] synonym: "Decreased serum complement C9" EXACT [] xref: UMLS:C4021093 is_a: HP:0033057 ! Decreased circulating terminal complement component concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T11:07:25Z [Term] id: HP:0012309 name: Cutaneous amyloidosis def: "The presence of amyloid deposition in the superficial dermis." [https://orcid.org/0000-0002-0736-9199, PMID:19690585] xref: SNOMEDCT_US:201337008 xref: SNOMEDCT_US:281882003 xref: SNOMEDCT_US:282834007 xref: SNOMEDCT_US:718105008 xref: UMLS:C0268397 is_a: HP:0011034 ! Amyloidosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T11:59:57Z [Term] id: HP:0012310 name: Abnormal monocyte count def: "Abnormal increase or decrease of total monocytes, or their phenotype, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo." [https://orcid.org/0000-0002-0736-9199] comment: Mmonocytes are myeloid mononuclear recirculating leukocytes that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. synonym: "Abnormal monocyte number" EXACT [] xref: SNOMEDCT_US:165540007 xref: SNOMEDCT_US:165541006 xref: UMLS:C0580319 is_a: HP:0011893 ! Abnormal leukocyte count is_a: HP:0012144 ! Abnormal monocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:07:14Z [Term] id: HP:0012311 name: Increased total monocyte count def: "Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood monocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Monocytosis" EXACT [] xref: SNOMEDCT_US:19636003 xref: UMLS:C0085702 is_a: HP:0012310 ! Abnormal monocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:09:16Z [Term] id: HP:0012312 name: Decreased total monocyte count def: "Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood monocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Monocytopenia" EXACT [] xref: SNOMEDCT_US:165539005 xref: UMLS:C0427544 is_a: HP:0012310 ! Abnormal monocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:10:07Z [Term] id: HP:0012313 name: Heberden node def: "Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [https://orcid.org/0000-0002-0736-9199, PMID:10531070, PMID:17488856, PMID:18390583, PMID:9709182] comment: Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate. synonym: "Heberden's node" EXACT [] xref: SNOMEDCT_US:371598009 xref: UMLS:C0018862 is_a: HP:0006247 ! Enlarged interphalangeal joints property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:19:59Z [Term] id: HP:0012314 name: Bouchard node def: "Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [https://orcid.org/0000-0002-0736-9199, PMID:10531070, PMID:9709182] comment: Heberden's nodes are generally a sign of osteoarthritis. synonym: "Bouchard's node" EXACT [] xref: SNOMEDCT_US:20243008 xref: UMLS:C0263780 is_a: HP:0006247 ! Enlarged interphalangeal joints property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:27:25Z [Term] id: HP:0012315 name: Histiocytoma def: "A neoplasm containing histiocytes." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:128741006 xref: SNOMEDCT_US:302843004 xref: UMLS:C1509147 is_a: HP:0012316 ! Fibrous tissue neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:30:05Z [Term] id: HP:0012316 name: Fibrous tissue neoplasm def: "Any neoplasm composed of fibrous tissue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0206643 is_a: HP:0011792 ! Neoplasm by histology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:31:38Z [Term] id: HP:0012317 name: Sacroiliac arthritis def: "Inflammation of the sacroiliac joint, generally accompanied by lower back pain." [https://orcid.org/0000-0002-0736-9199] synonym: "Sacroiliitis" EXACT [] xref: UMLS:C0748473 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0100781 ! Abnormal sacroiliac joint morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T12:58:43Z [Term] id: HP:0012318 name: Occipital neuralgia def: "A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side." [https://orcid.org/0000-0002-0736-9199, PMID:21569290] comment: Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms. xref: SNOMEDCT_US:71760005 xref: UMLS:C0007863 is_a: HP:0002315 ! Headache is_a: HP:0033345 ! Neuralgia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T01:07:45Z [Term] id: HP:0012319 name: Absent pigmentation of the abdomen def: "Lack of skin pigmentation (coloring) of the abdomen." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022956 is_a: HP:0200098 ! Absent skin pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T08:21:54Z [Term] id: HP:0012320 name: Absent pigmentation of the limbs def: "Lack of skin pigmentation (coloring) of the arms and legs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022955 is_a: HP:0200098 ! Absent skin pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-10T08:22:30Z [Term] id: HP:0012321 name: D-2-hydroxyglutaric aciduria def: "An increased concentration of 2-hydroxyglutaric acid in the urine." [https://orcid.org/0000-0002-0736-9199, PMID:20847235] xref: SNOMEDCT_US:237960000 xref: UMLS:C1833429 is_a: HP:0032278 ! 2-hydroxyglutarate aciduria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-11T08:46:46Z [Term] id: HP:0012322 name: Perifolliculitis def: "Inflammation surrounding hair follicles." [https://orcid.org/0000-0002-0736-9199] synonym: "Perifollicular inflammation" EXACT [] xref: SNOMEDCT_US:83341004 xref: UMLS:C0263006 is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-11T09:25:58Z [Term] id: HP:0012323 name: Sleep myoclonus def: "Myoclonus that occurs during the initial phases of sleep." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:34101000119105 xref: UMLS:C0751352 is_a: HP:0001336 ! Myoclonus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-11T10:21:47Z [Term] id: HP:0012324 name: Myeloid leukemia def: "A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow." [https://orcid.org/0000-0002-0736-9199] synonym: "Myeloid leukaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:128934006 xref: SNOMEDCT_US:188732008 xref: SNOMEDCT_US:37810007 xref: UMLS:C0023470 is_a: HP:0001909 ! Leukemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-12T06:38:18Z [Term] id: HP:0012325 name: Chronic myelomonocytic leukemia def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178] synonym: "Chronic myelomonocytic leukaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:127225006 xref: SNOMEDCT_US:128831004 xref: UMLS:C0023480 is_a: HP:0012324 ! Myeloid leukemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-12T06:45:11Z [Term] id: HP:0012326 name: Abnormal celiac artery morphology def: "An anomaly of the celiac artery." [https://orcid.org/0000-0002-0736-9199] comment: The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta. synonym: "Abnormal coeliac artery morphology" EXACT uk_spelling [] synonym: "Abnormality of the celiac artery" EXACT [] synonym: "Abnormality of the coeliac artery" EXACT uk_spelling [] xref: UMLS:C4022954 is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-12T08:47:21Z [Term] id: HP:0012327 name: Celiac artery compression def: "Compression of the celiac artery." [https://orcid.org/0000-0002-0736-9199] comment: This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament. synonym: "Celiac axis syndrome" RELATED [] synonym: "Coeliac artery compression" EXACT uk_spelling [] synonym: "Coeliac axis syndrome" RELATED uk_spelling [] synonym: "Dunbar syndrome" RELATED [] synonym: "Median arcuate ligament syndrome" RELATED [] xref: SNOMEDCT_US:9250002 xref: UMLS:C0152098 xref: UMLS:C4020693 is_a: HP:0012326 ! Abnormal celiac artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-12T08:49:18Z [Term] id: HP:0012328 name: Cementoma def: "An odontogenic tumor of the cementum of tooth." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:23255001 xref: SNOMEDCT_US:37258009 xref: UMLS:C0007659 is_a: HP:0100612 ! Odontogenic neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-12T08:55:10Z [Term] id: HP:0012329 name: Tufted angioma def: "A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation." [https://orcid.org/0000-0002-0736-9199, PMID:2644316] synonym: "Angioblastoma" EXACT [] synonym: "Angioblastoma of Nakagawa" EXACT [] synonym: "Hypertrophic hemangioma" EXACT [] synonym: "Progressive capillary hemangioma" EXACT [] synonym: "Tufted hemangioma" EXACT [] xref: SNOMEDCT_US:254786000 xref: SNOMEDCT_US:705155008 xref: UMLS:C0346073 is_a: HP:0001028 ! Hemangioma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-08-12T08:57:58Z [Term] id: HP:0012330 name: Pyelonephritis def: "An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices." [https://orcid.org/0000-0002-0736-9199] comment: Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting. xref: SNOMEDCT_US:45816000 xref: UMLS:C0034186 is_a: HP:0000123 ! Nephritis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T07:37:08Z [Term] id: HP:0012331 name: Abnormal autonomic nervous system morphology def: "A structural abnormality of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022953 is_a: HP:0002270 ! Abnormality of the autonomic nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T07:52:31Z [Term] id: HP:0012332 name: Abnormal autonomic nervous system physiology alt_id: HP:0002271 alt_id: HP:0002387 alt_id: HP:0002459 alt_id: HP:0007310 def: "A functional abnormality of the autonomic nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Autonomic dysfunction" EXACT [] synonym: "Autonomic dysregulation" EXACT [] synonym: "Dysautonomia" EXACT [] xref: UMLS:C4022952 is_a: HP:0002270 ! Abnormality of the autonomic nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T07:53:55Z [Term] id: HP:0012333 name: Abnormal sudomotor regulation def: "An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration." [https://orcid.org/0000-0002-0736-9199] comment: Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system. synonym: "Sudomotor sympathetic dysfunction" EXACT [] xref: UMLS:C4021092 is_a: HP:0012332 ! Abnormal autonomic nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T08:04:38Z [Term] id: HP:0012334 name: Extrahepatic cholestasis def: "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:20719006 xref: SNOMEDCT_US:8262006 xref: UMLS:C0005398 is_a: HP:0001396 ! Cholestasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T08:13:48Z [Term] id: HP:0012335 name: Abnormality of folate metabolism def: "An abnormality of the metabolism of folic acid, which is also known as vitamin B9." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022951 is_a: HP:0004340 ! Abnormality of vitamin B metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T08:38:06Z [Term] id: HP:0012336 name: obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0012446 creation_date: 2013-09-13T08:39:17Z [Term] id: HP:0012337 name: Abnormal homeostasis def: "An anomaly in the processes involved in the maintenance of an internal equilibrium." [https://orcid.org/0000-0002-0736-9199] xref: MP:0001764 "Abnormal homeostasis" xref: UMLS:C4022950 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T09:23:23Z [Term] id: HP:0012338 name: Abnormal energy expenditure def: "Any anomaly in the utilization of energy (calories)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal energy expenditure" EXACT layperson [] xref: UMLS:C4022949 is_a: HP:0012337 ! Abnormal homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T09:24:54Z [Term] id: HP:0012339 name: Increased resting energy expenditure def: "An increase in the number of calories used per unit time." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022948 is_a: HP:0012338 ! Abnormal energy expenditure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T09:25:29Z [Term] id: HP:0012340 name: Decreased resting energy expenditure def: "A reduction in the number of calories used per unit time." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022947 is_a: HP:0012338 ! Abnormal energy expenditure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T09:27:05Z [Term] id: HP:0012341 name: Microprolactinoma def: "A pituitary prolactin cell adenoma of less than 10 mm diameter." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:253010003 xref: UMLS:C0344452 is_a: HP:0006767 ! Pituitary prolactin cell adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T09:49:32Z [Term] id: HP:0012342 name: Macroprolactinoma def: "A pituitary prolactin cell adenoma of more than 10 mm diameter." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:253011004 xref: UMLS:C0344453 is_a: HP:0006767 ! Pituitary prolactin cell adenoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T09:50:29Z [Term] id: HP:0012343 name: Decreased circulating ferritin concentration def: "Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. synonym: "Decreased plasma ferritin" EXACT [] synonym: "Decreased serum ferritin" EXACT layperson [] synonym: "Low ferritin level" EXACT layperson [] synonym: "Reduced serum ferritin" EXACT layperson [] xref: UMLS:C0241012 is_a: HP:0040133 ! Abnormal circulating ferritin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T09:51:46Z [Term] id: HP:0012344 name: Morphea def: "Isolated patches of hardened skin (scleroderma)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:201049004 xref: UMLS:C1527383 is_a: HP:0001072 ! Thickened skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-13T09:55:47Z [Term] id: HP:0012345 name: Abnormal glycosylation def: "An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022946 is_a: HP:0032245 ! Abnormal metabolism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T09:06:16Z [Term] id: HP:0012346 name: Abnormal protein glycosylation def: "An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022945 is_a: HP:0012345 ! Abnormal glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T09:09:40Z [Term] id: HP:0012347 name: Abnormal protein N-linked glycosylation def: "An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." [https://orcid.org/0000-0002-0736-9199, PMID:22516080] comment: Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signaling. xref: UMLS:C4022944 is_a: HP:0012346 ! Abnormal protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T09:29:59Z [Term] id: HP:0012348 name: Decreased galactosylation of N-linked protein glycosylation def: "A reduction in the amount of galactose residues of N-glycans." [https://orcid.org/0000-0002-0736-9199] comment: The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence. xref: UMLS:C4022943 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:02:47Z [Term] id: HP:0012349 name: Abnormal sialylation of N-linked protein glycosylation def: "An anomaly of the addition of sialic acids to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] comment: The most common sialic acids is N-acetylneuraminic acid (Neu5Ac). xref: UMLS:C4022942 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:08:34Z [Term] id: HP:0012350 name: Decreased sialylation of N-linked protein glycosylation def: "Decreased addition of sialic acids to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022941 is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:14:42Z [Term] id: HP:0012351 name: Increased sialylation of N-linked protein glycosylation def: "Increased addition of sialic acids to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022940 is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:15:28Z [Term] id: HP:0012352 name: Abnormal fucosylation of protein N-linked glycosylation def: "An anomaly of the addition of fucose sugar units to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022939 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:17:55Z [Term] id: HP:0012353 name: Decreased fucosylation of N-linked protein glycosylation def: "Decreased addition of fucose sugar units to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022938 is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:20:00Z [Term] id: HP:0012354 name: Increased fucosylation of N-linked protein glycosylation def: "Increased addition of fucose sugar units to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022937 is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:21:15Z [Term] id: HP:0012355 name: Abnormal mannosylation of N-linked protein glycosylation def: "An anomaly of the addition of mannose to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022936 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:23:53Z [Term] id: HP:0012356 name: Decreased mannosylation of N-linked protein glycosylation def: "Reduced addition of mannose to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022935 is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:24:56Z [Term] id: HP:0012357 name: Increased mannosylation of N-linked protein glycosylation def: "Increased addition of mannose to N-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022934 is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:25:28Z [Term] id: HP:0012358 name: Abnormal protein O-linked glycosylation def: "An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022933 is_a: HP:0012346 ! Abnormal protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:26:49Z [Term] id: HP:0012359 name: Abnormal fucosylation of O-linked protein glycosylation def: "An anomaly of the addition of fucose sugar units to O-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022932 is_a: HP:0012358 ! Abnormal protein O-linked glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:31:07Z [Term] id: HP:0012360 name: Decreased fucosylation of O-linked protein glycosylation def: "A reduction of the addition of fucose sugar units to O-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022931 is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:33:00Z [Term] id: HP:0012361 name: Increased fucosylation of O-linked protein glycosylation def: "Increased addition of fucose sugar units to O-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022930 is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:34:38Z [Term] id: HP:0012362 name: Abnormal sialylation of O-linked protein glycosylation def: "An anomaly of the addition of sialic acids to O-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022929 is_a: HP:0012358 ! Abnormal protein O-linked glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:36:12Z [Term] id: HP:0012363 name: Decreased sialylation of O-linked protein glycosylation def: "An reduced addition of sialic acids to O-linked glycans." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022928 is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-09-15T10:36:43Z [Term] id: HP:0012364 name: Decreased urinary potassium def: "A decreased concentration of potassium(1+) in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased urinary K" EXACT abbreviation [] synonym: "Hypokaliuria" EXACT [] synonym: "Hypokaluria" EXACT [] synonym: "Low urine potassium levels" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:54781007 xref: UMLS:C0268024 is_a: HP:0012598 ! Abnormal urine potassium concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-03T10:21:51Z [Term] id: HP:0012365 name: Hypophosphaturia def: "An abnormally decreased phosphate concentration in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Low urine phosphate levels" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:91632005 xref: UMLS:C0268077 is_a: HP:0012599 ! Abnormal urine phosphate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-03T10:25:06Z [Term] id: HP:0012366 name: Basilar invagination def: "Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama)." [https://orcid.org/0000-0002-0736-9199, PMID:10084535] xref: UMLS:C3887851 is_a: HP:0000932 ! Abnormal posterior cranial fossa morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T12:18:53Z [Term] id: HP:0012367 name: Extra fontanelles def: "Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull." [https://orcid.org/0000-0002-0736-9199] comment: Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles. subset: hposlim_core xref: UMLS:C4022927 is_a: HP:0011328 ! Abnormal fontanelle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T12:27:03Z [Term] id: HP:0012368 name: Flat face def: "Absence of concavity or convexity of the face when viewed in profile." [PMID:19125436] comment: A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave. subset: hposlim_core synonym: "Flat face" EXACT layperson [] synonym: "Flat facial profile" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Flat facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat facies" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853241 is_a: HP:0001999 ! Abnormal facial shape property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T01:49:13Z [Term] id: HP:0012369 name: obsolete Abnormal malar bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0010668 creation_date: 2013-10-13T02:37:51Z [Term] id: HP:0012370 name: Prominence of the zygomatic bone def: "Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'." [https://orcid.org/0000-0001-5889-4463, PMID:19125436] subset: hposlim_core synonym: "Cheekbone excess" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Cheekbone prominence" EXACT [] synonym: "Hyperplasia of cheekbone" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of zygomatic bone" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malar hypertrophy" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominence of cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pronounced cheekbone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Zygomatic bone excess" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Zygomatic hypertrophy" NARROW [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:427888001 xref: UMLS:C0375511 xref: UMLS:C1997760 xref: UMLS:C4082245 is_a: HP:0010668 ! Abnormal zygomatic bone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T02:50:15Z [Term] id: HP:0012371 name: Hyperplasia of midface alt_id: HP:0010279 def: "Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face" [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia. subset: hposlim_core synonym: "Big midface" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of midface" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Large midface" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midface hyperplasia" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Midfacial excess" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midfacial prominence" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of the midface" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0240309 is_a: HP:0000309 ! Abnormal midface morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T02:55:54Z [Term] id: HP:0012372 name: Abnormal eye morphology alt_id: HP:0000489 alt_id: HP:0012374 def: "A structural anomaly of the globe of the eye, or bulbus oculi." [https://orcid.org/0000-0002-0736-9199] comment: previously: Abnormal globe morphology synonym: "Abnormal eye structure" EXACT layperson [] synonym: "Abnormality of the globe" EXACT [] synonym: "Abnormally shaped eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4863 xref: UMLS:C4022925 is_a: HP:0000478 ! Abnormality of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T03:44:43Z [Term] id: HP:0012373 name: Abnormal eye physiology def: "A functional anomaly of the eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal eye physiology" EXACT layperson [] synonym: "Abnormal vision physiology" BROAD [] xref: UMLS:C4022924 is_a: HP:0000478 ! Abnormality of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T03:45:37Z [Term] id: HP:0012374 name: obsolete Abnormal globe morphology is_obsolete: true replaced_by: HP:0012372 [Term] id: HP:0012375 name: Chemosis def: "Edema (swelling) of the bulbar conjunctiva." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:8148005 xref: UMLS:C0271298 is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T05:45:45Z [Term] id: HP:0012376 name: Microphakia def: "Abnormal smallness of the lens." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Small lens" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:35272001 xref: UMLS:C0266541 is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T06:11:11Z [Term] id: HP:0012377 name: Hemianopia def: "Partial or complete loss of vision in one half of the visual field of one or both eyes." [https://orcid.org/0000-0002-0736-9199] synonym: "Hemianopsia" EXACT [] xref: SNOMEDCT_US:77674003 xref: UMLS:C0018979 is_a: HP:0001123 ! Visual field defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-13T07:55:21Z [Term] id: HP:0012378 name: Fatigue def: "A subjective feeling of tiredness characterized by a lack of energy and motivation." [https://orcid.org/0000-0002-0736-9199] comment: Fatigue is distinct from muscle weakness. synonym: "Fatigue" EXACT layperson [] synonym: "Tired" EXACT layperson [] synonym: "Tiredness" EXACT layperson [] xref: SNOMEDCT_US:248274002 xref: SNOMEDCT_US:84229001 xref: UMLS:C0015672 is_a: HP:0025142 ! Constitutional symptom property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-15T08:52:04Z [Term] id: HP:0012379 name: Abnormal circulating enzyme concentration or activity def: "Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation." [https://orcid.org/0000-0002-0736-9199, MP:0005584] xref: UMLS:C4022922 is_a: HP:0034684 ! Abnormal enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-15T08:58:55Z [Term] id: HP:0012380 name: Reduced tissue carnitine O-palmitoyltransferase 2 activity def: "Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle." [https://orcid.org/0000-0002-0736-9199, PMID:1528846] xref: UMLS:C4022921 is_a: HP:6000231 ! Abnormal tissue enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-15T09:00:17Z [Term] id: HP:0012381 name: Delayed self-feeding during toddler years def: "A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022920 is_a: HP:0011968 ! Feeding difficulties property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-16T11:46:54Z [Term] id: HP:0012382 name: Left-to-right shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right." [https://orcid.org/0000-0001-9114-8737] xref: SNOMEDCT_US:66130006 xref: UMLS:C0428870 is_a: HP:0001693 ! Cardiac shunt property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-16T11:54:21Z [Term] id: HP:0012383 name: Bidirectional shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa." [https://orcid.org/0000-0001-9114-8737] xref: SNOMEDCT_US:13352000 xref: UMLS:C0428872 is_a: HP:0001693 ! Cardiac shunt property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-10-16T11:54:45Z [Term] id: HP:0012384 name: Rhinitis def: "Inflammation of the nasal mucosa with nasal congestion." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Nasal inflammation" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:70076002 xref: UMLS:C0035455 xref: UMLS:C2718128 is_a: HP:0000366 ! Abnormality of the nose property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2013-10-19T05:37:08Z [Term] id: HP:0012385 name: Camptodactyly def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Permanent flexion of the finger or toe" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:29271008 xref: UMLS:C0685409 is_a: HP:0030044 ! Flexion contracture of digit property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2013-10-20T08:08:19Z [Term] id: HP:0012386 name: Absent hallux def: "Aplasia of the hallux, that is, a development defect such that the big toe does not develop." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Agenesis of the halluces" EXACT [] synonym: "Aplasia of the hallux" EXACT [] synonym: "Missing big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1841686 is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2013-10-20T12:03:14Z [Term] id: HP:0012387 name: Bronchitis def: "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:32398004 xref: UMLS:C0006277 is_a: HP:0011947 ! Respiratory tract infection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:24:16Z [Term] id: HP:0012388 name: Acute bronchitis def: "Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:10509002 xref: SNOMEDCT_US:35301006 xref: UMLS:C0149514 is_a: HP:0012387 ! Bronchitis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:27:42Z [Term] id: HP:0012389 name: Appendicular hypotonia def: "Muscular hypotonia of one or more limbs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022919 is_a: HP:0001252 ! Hypotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:31:51Z [Term] id: HP:0012390 name: Anal fissure def: "A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus." [https://orcid.org/0000-0002-0736-9199] synonym: "Anal erosion" RELATED [] xref: SNOMEDCT_US:20928004 xref: SNOMEDCT_US:30037006 xref: UMLS:C0016167 is_a: HP:0034915 ! Abnormal anus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:36:49Z [Term] id: HP:0012391 name: Hyporeflexia of upper limbs def: "Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1836835 is_a: HP:0001265 ! Hyporeflexia is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:42:49Z [Term] id: HP:0012392 name: Jaw hyporeflexia def: "Reduced intensity of muscle tendon reflexes in jaw." [https://orcid.org/0000-0002-0736-9199] comment: The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed. synonym: "Mandibular hyporeflexia" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4022918 is_a: HP:0001265 ! Hyporeflexia is_a: HP:0045037 ! Abnormality of jaw muscles property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:43:29Z [Term] id: HP:0012393 name: Allergy def: "An allergy is an immune response or reaction to substances that are usually not harmful." [https://orcid.org/0000-0002-0736-9199] synonym: "Allergy" EXACT layperson [] xref: SNOMEDCT_US:419076005 xref: UMLS:C1527304 is_a: HP:0100326 ! Immunologic hypersensitivity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:47:22Z [Term] id: HP:0012394 name: Iodine contrast allergy def: "Allergy to iodine contrast media used in radiological studies." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022917 is_a: HP:0012393 ! Allergy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:49:32Z [Term] id: HP:0012395 name: Seasonal allergy def: "An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction." [https://orcid.org/0000-0002-0736-9199] synonym: "Seasonal allergy" EXACT layperson [] xref: SNOMEDCT_US:21719001 xref: SNOMEDCT_US:300910009 xref: SNOMEDCT_US:367498001 xref: SNOMEDCT_US:444316004 xref: UMLS:C0018621 is_a: HP:0012393 ! Allergy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:51:48Z [Term] id: HP:0012396 name: Biliary dyskinesia def: "A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction." [https://orcid.org/0000-0002-0736-9199, PMID:12095476] xref: SNOMEDCT_US:197432008 xref: UMLS:C0005416 is_a: HP:0012439 ! Abnormal biliary tract physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T07:56:55Z [Term] id: HP:0012397 name: Aortic atherosclerotic lesion def: "The presence of atheromas or atherosclerotic plaques in the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:16818829] synonym: "Aortic atherosclerosis" BROAD [] synonym: "Atherosclerosis of the aorta" EXACT [] synonym: "Atherosclerotic changes of aorta" EXACT [] synonym: "Plaque build-up in aorta artery" BROAD [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:81817003 xref: UMLS:C0155733 is_a: HP:0001679 ! Abnormal aortic morphology is_a: HP:0002621 ! Atherosclerosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-07T08:04:30Z [Term] id: HP:0012398 name: Peripheral edema def: "An abnormal accumulation of interstitial fluid in the soft tissues of the limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Peripheral oedema" EXACT uk_spelling [] xref: SNOMEDCT_US:271809000 xref: SNOMEDCT_US:82014009 xref: UMLS:C0085649 is_a: HP:0000969 ! Edema property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-08T08:09:45Z [Term] id: HP:0012399 name: Pressure ulcer def: "A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips." [https://orcid.org/0000-0002-0736-9199] comment: Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound. synonym: "Bedsore" EXACT layperson [] synonym: "Decubitus Ulcer" EXACT [] synonym: "Pressure Sore" EXACT layperson [] synonym: "Pressure ulcer" EXACT layperson [] xref: SNOMEDCT_US:399912005 xref: SNOMEDCT_US:420226006 xref: UMLS:C0011127 is_a: HP:0200042 ! Skin ulcer property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-08T08:49:52Z [Term] id: HP:0012400 name: Abnormal circulating aldolase concentration def: "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate." [https://orcid.org/0000-0002-0736-9199] comment: The reaction catalyzed by aldolase is a component of the glycolysis pathway. synonym: "Abnormal aldolase level" EXACT [] xref: UMLS:C4022916 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-09T03:35:35Z [Term] id: HP:0012401 name: Abnormal urine alpha-ketoglutarate concentration def: "A deviation from normal of the concentration of 2-oxoglutaric acid in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. synonym: "Abnormal urinary 2-oxoglutarate level" EXACT [] synonym: "Abnormality of urine alpha ketoglutarate concentration" EXACT [] xref: UMLS:C4020902 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-09T03:45:40Z [Term] id: HP:0012402 name: Increased urine alpha-ketoglutarate concentration def: "A greater than normal concentration of 2-oxoglutaric acid in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. synonym: "Elevated urinary 2-oxoglutarate" EXACT [] synonym: "Increased urine alpha-ketoglutarate concentration" EXACT layperson [] xref: UMLS:C4022915 is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-09T03:48:37Z [Term] id: HP:0012403 name: Decreased urine alpha-ketoglutarate concentration def: "A lower than normal concentration of 2-oxoglutaric acid in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. synonym: "Decreased urinary 2-oxoglutarate" EXACT [] xref: UMLS:C4022914 is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-09T03:49:45Z [Term] id: HP:0012404 name: Abnormal urine citrate concentration def: "A deviation from normal of the concentration of citrate(3-) in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal urine citrate concentration" EXACT layperson [] synonym: "Abnormal urine citric acid concentration" EXACT [] xref: UMLS:C4022913 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-09T03:51:30Z [Term] id: HP:0012405 name: Hypocitraturia def: "A lower than normal concentration of citrate(3-) in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased urine citrate concentration" EXACT [] xref: UMLS:C2673444 is_a: HP:0012404 ! Abnormal urine citrate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-09T03:54:41Z [Term] id: HP:0012406 name: Hypercitraturia def: "A greater than normal concentration of citrate(3-) in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urine citrate concentration" EXACT [] xref: UMLS:C4021090 is_a: HP:0012404 ! Abnormal urine citrate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-09T03:56:26Z [Term] id: HP:0012407 name: Scissor gait def: "A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use." [https://orcid.org/0000-0002-0736-9199] comment: Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy. synonym: "Scissor gait" EXACT layperson [] synonym: "Scissor walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Scissoring gait" EXACT [] synonym: "Scissoring of the lower extremities" EXACT [] synonym: "Scissoring of the lower limbs" EXACT [] synonym: "Scissors gait" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:22090007 xref: UMLS:C0231698 is_a: HP:0031958 ! Spastic paraparetic gait property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-09T04:15:36Z [Term] id: HP:0012408 name: Medullary nephrocalcinosis def: "The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)." [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:236447005 xref: UMLS:C0403477 is_a: HP:0000121 ! Nephrocalcinosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T10:45:27Z [Term] id: HP:0012409 name: Cortical nephrocalcinosis def: "The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:236446001 xref: UMLS:C0403476 is_a: HP:0000121 ! Nephrocalcinosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T11:03:33Z [Term] id: HP:0012410 name: Pure red cell aplasia def: "A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction." [https://orcid.org/0000-0002-0736-9199] comment: Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. synonym: "Red cell aplasia" EXACT [] xref: SNOMEDCT_US:50715003 xref: UMLS:C0034902 is_a: HP:0012131 ! Abnormal number of erythroid precursors property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T11:36:59Z [Term] id: HP:0012411 name: Premature pubarche def: "The onset of growth of pubic hair at an earlier age than normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature pubic hair growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:237815000 xref: UMLS:C0342541 is_a: HP:0000826 ! Precocious puberty property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T11:50:16Z [Term] id: HP:0012412 name: Premature adrenarche def: "Onset of adrenarche at an earlier age than usual." [https://orcid.org/0000-0002-0736-9199] comment: Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). {xref="PMID:10414639"} xref: SNOMEDCT_US:103021001 xref: UMLS:C0342546 is_a: HP:0100000 ! Early onset of sexual maturation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T11:58:02Z [Term] id: HP:0012413 name: Notched primary central incisor def: "The presence of a V-shaped indentation (notch) in the primary central incisor." [https://orcid.org/0000-0002-0736-9199] synonym: "Notched front baby tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Notched front deciduous tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Notched front primary tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Syphilitic primary incisor" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:410500004 xref: SNOMEDCT_US:86443005 xref: UMLS:C0020186 xref: UMLS:C1444627 xref: UMLS:C4022912 is_a: HP:0011063 ! Abnormal incisor morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T12:07:34Z [Term] id: HP:0012414 name: Duodenal atrophy def: "Wasting or decrease in size of all or part of the duodenum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022911 is_a: HP:0002246 ! Abnormal duodenum morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T12:20:19Z [Term] id: HP:0012415 name: Abnormal blood gas level def: "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood gas level" EXACT layperson [] xref: SNOMEDCT_US:312391003 xref: UMLS:C0476337 is_a: HP:0002795 ! Abnormal respiratory system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T04:59:20Z [Term] id: HP:0012416 name: Hypercapnia def: "Abnormally elevated blood carbon dioxide (CO2) level." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood carbon dioxide level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypercarbia" EXACT [] xref: SNOMEDCT_US:29596007 xref: UMLS:C0020440 is_a: HP:0500164 ! Abnormal blood carbon dioxide level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T05:04:49Z [Term] id: HP:0012417 name: Hypocapnia def: "Abnormally reduced blood carbon dioxide (CO2) level." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypocarbia" EXACT [https://en.wikipedia.org/wiki/hypocapnia, https://orcid.org/0000-0001-5208-3432] synonym: "Reduced carbon dioxide in the blood" EXACT layperson [https://en.wikipedia.org/wiki/hypocapnia, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:61031008 xref: UMLS:C0085383 is_a: HP:0500164 ! Abnormal blood carbon dioxide level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T05:06:10Z [Term] id: HP:0012418 name: Hypoxemia def: "An abnormally low level of blood oxygen." [https://orcid.org/0000-0002-0736-9199] comment: Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. synonym: "Hypoxia" RELATED [https://orcid.org/0000-0001-5208-3432] synonym: "Low blood oxygen level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:389087006 xref: UMLS:C0700292 is_a: HP:0500165 ! Abnormal blood oxygen level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T05:07:07Z [Term] id: HP:0012419 name: Hyperoxemia def: "An abnormally high level of blood oxygen." [https://orcid.org/0000-0002-0736-9199] comment: Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value. xref: UMLS:C4022910 is_a: HP:0500165 ! Abnormal blood oxygen level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T05:09:04Z [Term] id: HP:0012420 name: Meconium stained amniotic fluid def: "Amniotic fluid containing the earliest stools of a mammalian infant." [https://orcid.org/0000-0002-0736-9199] comment: Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome. synonym: "Meconium staining of amniotic fluid" EXACT [] synonym: "Meconium-stained amniotic fluid" EXACT [] xref: SNOMEDCT_US:168092006 xref: SNOMEDCT_US:249135009 xref: UMLS:C0426209 is_a: HP:0001560 ! Abnormality of the amniotic fluid property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T06:01:40Z [Term] id: HP:0012421 name: Congenital absence of foreskin def: "Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis." [https://orcid.org/0000-0002-0736-9199] comment: Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately. synonym: "Absent foreskin" EXACT [] synonym: "Aposthia" EXACT [] xref: SNOMEDCT_US:300519001 xref: UMLS:C0577242 is_a: HP:0100587 ! Abnormal preputium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-10T06:17:21Z [Term] id: HP:0012422 name: Villous hypertrophy of choroid plexus def: "Overgrowth of the choroid plexus." [https://orcid.org/0000-0002-0736-9199, PMID:16523225] comment: The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF. synonym: "Choroid plexus hypertrophy" EXACT [] synonym: "Diffuse villous hypertrophy of choroid plexus" RELATED [] xref: UMLS:C4020728 xref: UMLS:C4021089 is_a: HP:0007376 ! Abnormal choroid plexus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-11T07:50:37Z [Term] id: HP:0012423 name: Colonic inertia def: "The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days." [https://orcid.org/0000-0002-0736-9199, PMID:23449085] xref: UMLS:C1257861 is_a: HP:0012700 ! Abnormal large intestine physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-11T08:04:46Z [Term] id: HP:0012424 name: Chorioretinitis def: "An inflammation of the choroid and retina." [https://orcid.org/0000-0001-5208-3432, PMID:16196117] comment: Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. xref: SNOMEDCT_US:46627006 xref: UMLS:C0008513 is_a: HP:0000532 ! Abnormal chorioretinal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-11T08:10:29Z [Term] id: HP:0012425 name: Stercoral ulcer def: "An ulcer of the colon due to pressure and irritation from retained fecal masses." [https://orcid.org/0000-0001-5208-3432, PMID:7065551] comment: Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area. synonym: "Colon ulcer" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Recto-sigmoid colon stercoral ulcer" RELATED [] xref: SNOMEDCT_US:235766003 xref: SNOMEDCT_US:38084005 xref: SNOMEDCT_US:46040000 xref: UMLS:C0267491 xref: UMLS:C0333302 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0034274 ! Gastrointestinal ulcer property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-12T10:28:18Z [Term] id: HP:0012426 name: Optic disc drusen def: "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [https://orcid.org/0000-0002-0736-9199, PMID:22787500, PMID:23658477, PMID:30524490] comment: Optic disc drusen can lead to an elevated disk and thus mimic disk swelling (pseudopapilledema). synonym: "Optic nerve head drusen" EXACT [] xref: SNOMEDCT_US:33629003 xref: UMLS:C0029128 is_a: HP:0011510 ! Drusen is_a: HP:0012795 ! Abnormal optic disc morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-12T10:36:06Z [Term] id: HP:0012427 name: Increased femoral anteversion alt_id: HP:0031068 def: "An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward." [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-0736-9199, PMID:32579722] comment: Femoral neck anteversion (FNA), also called femoral torsion or femoral version, is the angle between the projection of two lines in the axial plane perpendicular to the femoral shaft; one line going through the proximal femoral neck region and the second one through the distal condylar region, indicating the degree of twist of the femur. Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. See Figure 1 of PMID:32579722. synonym: "Excessive femoral anteversion" EXACT [] synonym: "Increased femoral neck anteversion" EXACT [] synonym: "Internally rotated hips" EXACT layperson [] xref: UMLS:C4022909 is_a: HP:0031069 ! Abnormal femoral torsion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-12T10:51:07Z [Term] id: HP:0012428 name: Prominent calcaneus def: "Protruding heel bone, or calcaneus." [https://orcid.org/0000-0001-5208-3432] synonym: "Prominent heel bone" EXACT layperson [] xref: UMLS:C4021088 is_a: HP:0008364 ! Abnormality of the calcaneus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-12T11:04:49Z [Term] id: HP:0012429 name: Aplasia/Hypoplasia of the cerebral white matter def: "Absence or underdevelopment of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small cerebral white matter" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped cerebral white matter" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021844 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-13T07:39:37Z [Term] id: HP:0012430 name: Cerebral white matter hypoplasia def: "Underdevelopment of the cerebral white matter." [https://orcid.org/0000-0002-0736-9199] synonym: "Paucity of cerebral white matter" RELATED [] xref: UMLS:C4020727 xref: UMLS:C4022908 is_a: HP:0012429 ! Aplasia/Hypoplasia of the cerebral white matter property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-13T07:42:02Z [Term] id: HP:0012431 name: Episodic fatigue def: "Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022907 is_a: HP:0012378 ! Fatigue property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-13T07:45:40Z [Term] id: HP:0012432 name: Chronic fatigue def: "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [https://orcid.org/0000-0001-5208-3432] comment: Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities. synonym: "Chronic extreme exhaustion" EXACT layperson [] synonym: "Chronic fatigue" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C0518656 is_a: HP:0012378 ! Fatigue property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-13T07:49:08Z [Term] id: HP:0012433 name: Abnormal social behavior def: "An abnormality of actions or reactions of a person taking place during interactions with others." [] synonym: "Abnormal social behavior" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] synonym: "Abnormal social interactions" EXACT [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] xref: UMLS:C4020726 xref: UMLS:C4021087 is_a: HP:0000708 ! Atypical behavior property_value: terms:contributor https://orcid.org/0000-0001-9112-5148 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-6670-9157 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T08:37:01Z [Term] id: HP:0012434 name: Delayed early-childhood social milestone development def: "A failure to meet one or more age-related milestones of social behavior." [] comment: This term may be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of three months, a child smiles in response to social interaction;. aAt the age of seven months, a child responds to the facial expressions of others;. aAnd at the age of 12 months, a child is shy around strangers. synonym: "Delayed milestone development" EXACT [] synonym: "Delayed social development" EXACT layperson [] xref: UMLS:C4022906 is_a: HP:0012758 ! Neurodevelopmental delay is_a: HP:0025732 ! Abnormal social development property_value: terms:contributor https://orcid.org/0000-0001-5395-5036 property_value: terms:contributor https://orcid.org/0000-0001-6886-767X property_value: terms:contributor https://orcid.org/0000-0001-8423-2623 property_value: terms:contributor https://orcid.org/0000-0001-9114-8737 property_value: terms:contributor https://orcid.org/0000-0002-0375-6247 property_value: terms:contributor https://orcid.org/0000-0002-2414-5605 property_value: terms:contributor https://orcid.org/0000-0002-4487-3589 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T08:40:29Z [Term] id: HP:0012435 name: Ventral shortening of foreskin def: "Reduction in length of the ventral (lower) skin of prepuce of penis." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022905 is_a: HP:0100587 ! Abnormal preputium morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T08:45:20Z [Term] id: HP:0012436 name: Nonocclusive coronary artery atherosclerosis def: "Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." [https://orcid.org/0000-0001-5208-3432] synonym: "Non-occlusive coronary artery disease" EXACT [] synonym: "Non-occlusive coronary artery stenosis" RELATED [] synonym: "Nonocclusive coronary artery disease" RELATED [] synonym: "Nonocclusive coronary artery stenosis" RELATED [] xref: UMLS:C4020724 xref: UMLS:C4020725 is_a: HP:0001677 ! Coronary artery atherosclerosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T08:50:05Z [Term] id: HP:0012437 name: Abnormal gallbladder morphology def: "A structural anomaly of the gallbladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal gallbladder structure" EXACT layperson [] synonym: "Abnormal shape of gallbladder" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022904 is_a: HP:0005264 ! Abnormality of the gallbladder property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T01:13:40Z [Term] id: HP:0012438 name: Abnormal gallbladder physiology def: "A functional anomaly of the gallbladder." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022903 is_a: HP:0005264 ! Abnormality of the gallbladder property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T01:17:00Z [Term] id: HP:0012439 name: Abnormal biliary tract physiology def: "A functional abnormality of the biliary tree." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022902 is_a: HP:0001080 ! Biliary tract abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:14:51Z [Term] id: HP:0012440 name: Abnormal biliary tract morphology def: "A structural abnormality of the biliary tree." [https://orcid.org/0000-0002-0736-9199] synonym: "Anomaly of the biliary tract" EXACT [] xref: UMLS:C4021086 is_a: HP:0001080 ! Biliary tract abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:15:33Z [Term] id: HP:0012441 name: Sphincter of Oddi dyskinesia def: "Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum." [https://orcid.org/0000-0002-0736-9199] comment: The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis. synonym: "Sphincter of Oddi dysfunction" RELATED [] xref: SNOMEDCT_US:430887001 xref: UMLS:C0878588 xref: UMLS:C4048750 is_a: HP:0012396 ! Biliary dyskinesia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:21:59Z [Term] id: HP:0012442 name: Gallbladder dyskinesia def: "Reduced motility of the gallbladder with reduced emptying fraction." [https://orcid.org/0000-0002-0736-9199, PMID:12095476, PMID:17761125] comment: Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent. xref: UMLS:C1449631 is_a: HP:0012396 ! Biliary dyskinesia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:28:07Z [Term] id: HP:0012443 name: Abnormal brain morphology def: "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of brain morphology" EXACT [] synonym: "Abnormality of the brain" EXACT layperson [] xref: UMLS:C4021085 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:38:00Z [Term] id: HP:0012444 name: Brain atrophy def: "Partial or complete wasting (loss) of brain tissue that was once present." [https://orcid.org/0000-0002-0736-9199] synonym: "Brain degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Brain wasting" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 xref: UMLS:C0235946 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system is_a: HP:0012443 ! Abnormal brain morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T02:46:15Z [Term] id: HP:0012446 name: Decreased CSF 5-methyltetrahydrofolate concentration alt_id: HP:0012336 def: "A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebral folate deficiency" RELATED [] synonym: "Low CSF 5-methyltetrahydrofolate" EXACT [] synonym: "Reduced CSF 5-methyltetrahydrofolate concentration" EXACT abbreviation [] xref: SNOMEDCT_US:711403001 xref: UMLS:C2751584 xref: UMLS:C4022901 is_a: HP:0012335 ! Abnormality of folate metabolism is_a: HP:0025454 ! Abnormal CSF metabolite concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T03:40:41Z [Term] id: HP:0012447 name: Abnormal myelination def: "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [https://orcid.org/0000-0002-0736-9199, MP:0000920] xref: UMLS:C1857704 is_a: HP:0012639 ! Abnormal nervous system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T03:45:58Z [Term] id: HP:0012448 name: Delayed myelination def: "Delayed myelination." [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:135810007 xref: UMLS:C1277241 is_a: HP:0012447 ! Abnormal myelination property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T03:47:56Z [Term] id: HP:0012449 name: Sacroiliac joint synovitis def: "Inflammation of the synovial membrane of the sacroiliac joint." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022900 is_a: HP:0100781 ! Abnormal sacroiliac joint morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T03:54:32Z [Term] id: HP:0012450 name: Chronic constipation def: "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [https://orcid.org/0000-0001-5208-3432] synonym: "Chronic constipation" EXACT layperson [] synonym: "Infrequent bowel movements" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:236069009 xref: UMLS:C0401149 is_a: HP:0002019 ! Constipation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T04:03:43Z [Term] id: HP:0012451 name: Acute constipation def: "Constipation of sudden onset and lasting for less than three months." [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:197119006 xref: UMLS:C0401148 is_a: HP:0002019 ! Constipation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T04:06:37Z [Term] id: HP:0012452 name: Restless legs def: "Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia." [PMID:28613628, PMID:34732752, PMID:35808955] comment: Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected individuals. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. synonym: "Ekbom syndrome" RELATED [] synonym: "Restless legs syndrome" EXACT [] synonym: "Tachyathetosis" EXACT [] synonym: "Willis-Ekbom disease" RELATED layperson [] synonym: "Wittmaack-Ekbom syndrome" RELATED [] xref: SNOMEDCT_US:32914008 xref: UMLS:C0035258 is_a: HP:0031943 ! Akathisia is_a: HP:5200300 ! Abnormal movement during sleep property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T07:42:59Z [Term] id: HP:0012453 name: Bilateral wrist flexion contracture def: "A chronic loss of wrist joint motion on the right and left sides." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral wrist contracture" RELATED [] xref: UMLS:C4020723 xref: UMLS:C4022899 is_a: HP:0001239 ! Wrist flexion contracture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T07:58:50Z [Term] id: HP:0012454 name: Unilateral wrist flexion contracture def: "A chronic loss of wrist joint motion on one side only." [https://orcid.org/0000-0002-0736-9199] synonym: "Unilateral wrist contracture" RELATED [] xref: UMLS:C4020722 xref: UMLS:C4022898 is_a: HP:0001239 ! Wrist flexion contracture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-23T07:59:39Z [Term] id: HP:0012455 name: obsolete Large artery calcification is_obsolete: true replaced_by: HP:0003207 [Term] id: HP:0012456 name: Medial arterial calcification def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries." [https://orcid.org/0000-0002-0736-9199] comment: Medial arterial calcification causes stiffening and decreased compliance of the affected arteries. xref: UMLS:C4022896 is_a: HP:0003207 ! Arterial calcification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T10:50:45Z [Term] id: HP:0012457 name: Medial calcification of medium-sized arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries." [https://orcid.org/0000-0002-0736-9199] comment: GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 xref: UMLS:C4022895 is_a: HP:0012456 ! Medial arterial calcification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T11:11:13Z [Term] id: HP:0012458 name: Medial calcification of small arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries." [https://orcid.org/0000-0002-0736-9199] comment: The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells. A discussion on the logical definition can be found here: https://github.com/obophenotype/human-phenotype-ontology/issues/6877. xref: UMLS:C4022894 is_a: HP:0012456 ! Medial arterial calcification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T11:13:13Z [Term] id: HP:0012459 name: Hypnic headache def: "A headache disorder that occurs exclusively at night, waking the affected individual from sleep." [https://orcid.org/0000-0002-0736-9199, PMID:20585827, PMID:23832130] comment: Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes. synonym: "Alarm clock headache" EXACT layperson [] xref: SNOMEDCT_US:122711000119109 xref: UMLS:C0752150 is_a: HP:0002315 ! Headache property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T11:20:18Z [Term] id: HP:0012460 name: Dysmorphic inferior cerebellar vermis def: "A structural anomaly of the inferior portion of the vermis of cerebellum." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022893 is_a: HP:0002334 ! Abnormal cerebellar vermis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T11:59:06Z [Term] id: HP:0012461 name: Bacteriuria def: "The presence of bacteria in the urine." [https://orcid.org/0000-0001-5208-3432] comment: The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection. synonym: "Bacteria in urine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "High urine bacteria" EXACT layperson [] xref: SNOMEDCT_US:61373006 xref: UMLS:C0004659 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T12:15:47Z [Term] id: HP:0012462 name: Chin myoclonus def: "Involuntary and irregular twitches of the chin." [https://orcid.org/0000-0002-0736-9199, PMID:16816905] synonym: "Chin spasms" RELATED [] synonym: "Geniospasm" EXACT [] xref: UMLS:C1860972 is_a: HP:0001336 ! Myoclonus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T12:26:38Z [Term] id: HP:0012463 name: Elevated transferrin saturation def: "An above normal level of saturation of serum transferrin with iron." [https://orcid.org/0000-0002-0736-9199] comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. xref: UMLS:C4022892 is_a: HP:0040135 ! Abnormal transferrin saturation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T12:46:56Z [Term] id: HP:0012464 name: Decreased transferrin saturation def: "A below normal level of saturation of serum transferrin with iron." [https://orcid.org/0000-0002-0736-9199] comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. xref: UMLS:C0919785 is_a: HP:0040135 ! Abnormal transferrin saturation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T12:51:51Z [Term] id: HP:0012465 name: Elevated hepatic iron concentration def: "An increased level of iron in liver tissues." [https://orcid.org/0000-0002-0736-9199, PMID:10922422, PMID:14668426] comment: This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. synonym: "Increased iron concentration in liver" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased liver iron level" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4022891 is_a: HP:0040134 ! Abnormal hepatic iron concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T12:54:57Z [Term] id: HP:0012466 name: Chronic respiratory acidosis def: "Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:8764008 xref: UMLS:C0268048 is_a: HP:0005972 ! Respiratory acidosis is_a: HP:0012468 ! Chronic acidosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T01:11:15Z [Term] id: HP:0012467 name: Acute respiratory acidosis def: "Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35)." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:70644008 xref: UMLS:C0268047 is_a: HP:0005972 ! Respiratory acidosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T01:11:51Z [Term] id: HP:0012468 name: Chronic acidosis def: "Longstanding abnormal acid accumulation or depletion of base." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1735903 is_a: HP:0001941 ! Acidosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-24T01:16:31Z [Term] id: HP:0012469 name: Infantile spasms def: "Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [https://orcid.org/0000-0001-8486-0558] xref: UMLS:C3887898 is_a: HP:0011097 ! Epileptic spasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-26T05:36:45Z [Term] id: HP:0012470 name: Setting-sun eye phenomenon def: "An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid." [https://orcid.org/0000-0002-0736-9199, PMID:17030938] comment: Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. synonym: "Eyes fixed downward" RELATED layperson [] synonym: "Setting-sun eye phenomenon" EXACT layperson [] synonym: "Sun setting eyes" EXACT layperson [] synonym: "Sunsetting eye" EXACT layperson [] xref: SNOMEDCT_US:63342001 xref: UMLS:C0423128 xref: UMLS:C4020721 is_a: HP:0000597 ! Ophthalmoparesis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-26T05:40:01Z [Term] id: HP:0012471 name: Thick vermilion border def: "Increased width of the skin of vermilion border region of upper lip." [https://orcid.org/0000-0002-0736-9199] synonym: "Full lips" EXACT layperson [] synonym: "Increased volume of lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of lip vermillion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plump lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent lips" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Thick lips" EXACT layperson [] xref: UMLS:C1836543 is_a: HP:0000159 ! Abnormal lip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-26T09:07:51Z [Term] id: HP:0012472 name: Eclabion def: "A turning outward of the lip or lips, that is, eversion of the lips." [https://orcid.org/0000-0002-0736-9199] synonym: "Eclabium" EXACT [] synonym: "Everted lips" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Outward turned lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C3550430 is_a: HP:0000159 ! Abnormal lip morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-26T10:20:23Z [Term] id: HP:0012473 name: Tongue atrophy def: "Wasting of the tongue." [https://orcid.org/0000-0001-5208-3432] synonym: "Atrophy of the tongue" EXACT [] synonym: "Lingual atrophy" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual wasting" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wasting of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249382006 xref: SNOMEDCT_US:50805004 xref: UMLS:C0241423 xref: UMLS:C0426494 is_a: HP:0030809 ! Abnormal tongue morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-26T10:32:31Z [Term] id: HP:0012474 name: Carotid artery occlusion def: "Complete obstruction of a carotid artery." [https://orcid.org/0000-0001-5208-3432] comment: Carotid artery occlusion is usually caused by caused by atherosclerosis. synonym: "Obstructed carotid artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:266254007 xref: SNOMEDCT_US:69798007 xref: UMLS:C0265101 is_a: HP:0005344 ! Abnormal carotid artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-27T10:11:40Z [Term] id: HP:0012475 name: Decreased circulating level of specific antibody def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism." [https://orcid.org/0000-0002-0736-9199, PMID:17100769] synonym: "Abnormal specific antibody response" EXACT [] synonym: "Decreased specific antibody in blood" EXACT [] synonym: "Specific antibody deficiency" EXACT [] xref: SNOMEDCT_US:234556002 xref: UMLS:C0398711 is_a: HP:0004313 ! Decreased circulating immunoglobulin concentration is_a: HP:0031404 ! Impaired antigen-specific response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-27T10:21:15Z [Term] id: HP:0012476 name: Decreased specific pneumococcal antibody level def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci." [https://orcid.org/0000-0002-0736-9199] synonym: "Low pneumococcal antibody titer" EXACT [] synonym: "Specific pneumococcal antibody deficiency" EXACT [] xref: UMLS:C4022890 is_a: HP:0012475 ! Decreased circulating level of specific antibody property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-27T10:28:04Z [Term] id: HP:0012477 name: Vocal tremor def: "A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability." [https://orcid.org/0000-0002-0736-9199, PMID:22505778] synonym: "Shakey voice" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Vocal tremor" EXACT layperson [] xref: UMLS:C4022889 is_a: HP:0002345 ! Action tremor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-28T07:11:37Z [Term] id: HP:0012478 name: Temporomandibular joint ankylosis alt_id: HP:0040263 def: "Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening." [https://orcid.org/0000-0001-5208-3432] synonym: "Adhesion of the temporomandibular joint" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ankylosis of temporomandibular joint" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Freezing of jaw joint" EXACT layperson [] synonym: "Freezing of the temporomandibular joint" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Jaw ankylosis" EXACT [] synonym: "Rigidity of the temporomandibular joint" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Temporomandibular joint fusion" EXACT [] xref: SNOMEDCT_US:298231004 xref: SNOMEDCT_US:50603008 xref: SNOMEDCT_US:91866004 xref: UMLS:C0575010 xref: UMLS:C0685924 xref: UMLS:C2931375 is_a: HP:0010754 ! Abnormality of the temporomandibular joint property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-28T07:24:24Z [Term] id: HP:0012479 name: Temporomandibular joint crepitus def: "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound." [https://orcid.org/0000-0002-0736-9199] synonym: "Jaw joint clicking sound" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Jaw joint crepitus" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Jaw joint grating sound" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Jaw joint noise" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Jaw joint popping sound" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Jaw joint sounds" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Temporomandibular joint clicking sound" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Temporomandibular joint grating sound" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Temporomandibular joint noise" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Temporomandibular joint popping sound" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Temporomandibular joint sounds" BROAD [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:298377005 xref: UMLS:C0575154 xref: UMLS:C4280313 xref: UMLS:C4280314 xref: UMLS:C4280315 is_a: HP:0010754 ! Abnormality of the temporomandibular joint property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-28T07:28:13Z [Term] id: HP:0012480 name: Abnormal cerebral vein morphology def: "An anomaly of cerebral veins." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cerebral veins" EXACT [] xref: UMLS:C4022888 is_a: HP:0100659 ! Abnormal cerebral vascular morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-28T08:01:32Z [Term] id: HP:0012481 name: Cerebral venous angioma def: "A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system." [https://orcid.org/0000-0002-0736-9199, PMID:8770251] comment: DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. synonym: "Developmental Venous Anomaly" EXACT [] xref: UMLS:C1956261 is_a: HP:0012480 ! Abnormal cerebral vein morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-28T08:03:08Z [Term] id: HP:0012482 name: Frontal venous angioma def: "A venous angioma of the frontal lobe of the brain." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022887 is_a: HP:0012481 ! Cerebral venous angioma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-28T08:12:07Z [Term] id: HP:0012483 name: Abnormal alpha granules def: "Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury." [https://orcid.org/0000-0002-7744-1790, PMID:8467233] comment: This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen. xref: UMLS:C4022886 is_a: HP:0011883 ! Abnormal platelet granules property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T07:44:49Z [Term] id: HP:0012484 name: Abnormal dense granules def: "Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin." [https://orcid.org/0000-0002-7744-1790] comment: This feature can be observed by electron microscopy. xref: UMLS:C4022885 is_a: HP:0011883 ! Abnormal platelet granules property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T07:48:08Z [Term] id: HP:0012485 name: Abnormal surface-connected open canalicular system def: "An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction." [https://orcid.org/0000-0002-0736-9199, PMID:1760557] xref: UMLS:C4021840 is_a: HP:0011875 ! Abnormal platelet morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T07:55:15Z [Term] id: HP:0012486 name: Myelitis def: "Inflammation of the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of spinal cord" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:41370002 xref: UMLS:C0026975 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0033429 ! Neuroinflammation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T08:10:12Z [Term] id: HP:0012487 name: Cerebellopontine angle arachnoid cyst def: "An arachnoid cyst located at the margin of the cerebellum and pons." [https://orcid.org/0000-0001-5208-3432] comment: The cerebellopontine angle is in the posterior fossa. xref: UMLS:C4022884 is_a: HP:0007291 ! Posterior fossa cyst is_a: HP:0100702 ! Arachnoid cyst property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T09:03:39Z [Term] id: HP:0012488 name: Intraventricular arachnoid cyst def: "An arachnoid cyst located within the ventricular system." [https://orcid.org/0000-0002-0736-9199, PMID:8951893] comment: Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists. xref: UMLS:C4022883 is_a: HP:0010576 ! Intracranial cystic lesion is_a: HP:0100702 ! Arachnoid cyst property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T09:08:46Z [Term] id: HP:0012489 name: Suprasellar arachnoid cyst def: "An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards." [https://orcid.org/0000-0002-0736-9199, PMID:21586175] comment: As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus. xref: UMLS:C4022882 is_a: HP:0010576 ! Intracranial cystic lesion is_a: HP:0100702 ! Arachnoid cyst property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T09:11:20Z [Term] id: HP:0012490 name: Panniculitis def: "Inflammation of subcutaneous adipose tissue." [https://orcid.org/0000-0002-0736-9199, PMID:20666823] comment: Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. synonym: "Inflammation of adipose tissue" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Inflammation of fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:22125009 xref: UMLS:C0030326 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0012649 ! Increased inflammatory response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T09:28:11Z [Term] id: HP:0012491 name: Abnormal dense tubular system def: "An anomaly of the intracellular membrane complexes known as the dense tubular system." [https://orcid.org/0000-0002-7744-1790, PMID:1322202] comment: The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form. xref: UMLS:C4022881 is_a: HP:0011875 ! Abnormal platelet morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-29T09:35:44Z [Term] id: HP:0012492 name: Cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of a cerebral artery." [https://orcid.org/0000-0001-5208-3432] synonym: "Narrowing of a cerebral artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1504438 is_a: HP:0009145 ! Abnormal cerebral artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T08:00:55Z [Term] id: HP:0012493 name: Middle cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:21290001000004104 xref: UMLS:C1504568 is_a: HP:0012492 ! Cerebral artery stenosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T08:04:27Z [Term] id: HP:0012494 name: Anterior cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1504567 is_a: HP:0012492 ! Cerebral artery stenosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T08:06:15Z [Term] id: HP:0012495 name: Posterior cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1504569 is_a: HP:0012492 ! Cerebral artery stenosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T08:07:04Z [Term] id: HP:0012496 name: Reduced maximal inspiratory pressure def: "A decrease in the maximum amount of negative pressure a person can generate during an inhalation." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022880 is_a: HP:0004347 ! Weakness of muscles of respiration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T08:24:33Z [Term] id: HP:0012497 name: Reduced maximal expiratory pressure def: "A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022879 is_a: HP:0004347 ! Weakness of muscles of respiration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T08:28:49Z [Term] id: HP:0012498 name: Nuchal cord def: "A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:302929008 xref: UMLS:C0405124 is_a: HP:0001787 ! Abnormal delivery property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T08:32:27Z [Term] id: HP:0012499 name: Descending aortic dissection def: "A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [https://orcid.org/0000-0002-0736-9199] comment: According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery). synonym: "Type B aortic dissection" EXACT [] xref: UMLS:C4022878 is_a: HP:0002647 ! Aortic dissection property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T08:44:18Z [Term] id: HP:0012500 name: Verrucous papule def: "A wartlike (with multiple small elevated projections) papule." [https://orcid.org/0000-0002-0736-9199] synonym: "Papillomatous papule" EXACT [] xref: UMLS:C4022877 is_a: HP:0200034 ! Papule property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T09:03:16Z [Term] id: HP:0012501 name: Abnormal brainstem white matter morphology def: "An anomaly of the white matter of brainstem." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the brainstem white matter" EXACT [] xref: UMLS:C4022876 is_a: HP:0002363 ! Abnormal brainstem morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T09:19:46Z [Term] id: HP:0012502 name: Abnormality of the internal capsule def: "An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022875 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T09:29:18Z [Term] id: HP:0012503 name: Abnormal pituitary gland morphology def: "An anomaly of the pituitary gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pituitary gland" EXACT [] synonym: "disorder of pituitary gland" EXACT [] xref: SNOMEDCT_US:399244003 xref: UMLS:C0032002 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis is_a: HP:0012443 ! Abnormal brain morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T09:34:21Z [Term] id: HP:0012504 name: Abnormal size of pituitary gland def: "A deviation from the normal size of the pituitary gland." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022874 is_a: HP:0012503 ! Abnormal pituitary gland morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T09:36:04Z [Term] id: HP:0012505 name: Enlarged pituitary gland def: "An abnormally increased size of the pituitary gland." [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:237718009 xref: UMLS:C0342422 is_a: HP:0012504 ! Abnormal size of pituitary gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T09:36:45Z [Term] id: HP:0012506 name: Small pituitary gland def: "An abnormally decreased size of the pituitary gland." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022873 is_a: HP:0012504 ! Abnormal size of pituitary gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-11-30T09:37:34Z [Term] id: HP:0012507 name: Weakness of orbicularis oculi muscle def: "Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Weakness of orbicularis oculi muscles" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1839030 is_a: HP:0001324 ! Muscle weakness is_a: HP:0030319 ! Weakness of facial musculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T08:12:54Z [Term] id: HP:0012508 name: Metamorphopsia def: "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:42134006 xref: UMLS:C0271185 is_a: HP:0000504 ! Abnormality of vision property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T08:21:46Z [Term] id: HP:0012509 name: Reduced thyroxin-binding globulin def: "An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream." [https://orcid.org/0000-0002-0736-9199] comment: Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid. xref: UMLS:C4022872 is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T08:25:46Z [Term] id: HP:0012510 name: Extra-axial cerebrospinal fluid accumulation def: "An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [https://orcid.org/0000-0002-0736-9199, PMID:22327705, PMID:23838695] synonym: "Extra-axial CSF accumulation" EXACT abbreviation [] xref: UMLS:C4022871 is_a: HP:0002921 ! Abnormal cerebrospinal fluid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T08:37:34Z [Term] id: HP:0012511 name: Temporal optic disc pallor def: "A pale yellow discoloration of the temporal (lateral) portion of the optic disc." [https://orcid.org/0000-0002-0736-9199, PMID:19668477] comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. xref: SNOMEDCT_US:247220006 xref: UMLS:C0344299 is_a: HP:0000543 ! Optic disc pallor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T08:55:48Z [Term] id: HP:0012512 name: Diffuse optic disc pallor def: "A pale yellow discoloration of the entire optic disc." [https://orcid.org/0000-0002-0736-9199, PMID:19668477] comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. xref: UMLS:C4022870 is_a: HP:0000543 ! Optic disc pallor property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T09:02:25Z [Term] id: HP:0012513 name: Upper limb pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm." [https://orcid.org/0000-0001-5208-3432] synonym: "Upper limb pain" EXACT layperson [] xref: SNOMEDCT_US:102556003 xref: UMLS:C0239377 is_a: HP:0009763 ! Limb pain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T09:07:11Z [Term] id: HP:0012514 name: Lower limb pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg." [https://orcid.org/0000-0001-5208-3432] synonym: "Leg pain" EXACT layperson [] synonym: "Lower limb pain" EXACT layperson [] xref: SNOMEDCT_US:10601006 xref: UMLS:C0023222 is_a: HP:0009763 ! Limb pain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T09:10:29Z [Term] id: HP:0012515 name: Hip flexor weakness def: "Reduced ability to flex the femur, that is, to pull the knee upward." [https://orcid.org/0000-0001-5208-3432] comment: Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh. xref: UMLS:C3279725 is_a: HP:0003749 ! Pelvic girdle muscle weakness property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T09:14:34Z [Term] id: HP:0012516 name: Tetralogy of Fallot with pulmonary atresia def: "An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries." [https://orcid.org/0000-0001-5208-3432, PMID:22368654] comment: Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA. xref: SNOMEDCT_US:253513005 xref: UMLS:C0344882 is_a: HP:0001636 ! Tetralogy of Fallot property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-08T09:44:24Z [Term] id: HP:0012517 name: Reduced circulating catalase activity def: "Activity or concentration of catalase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-0736-9199] comment: Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. synonym: "Reduced catalase level" EXACT [] xref: UMLS:C4022869 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-09T06:49:18Z [Term] id: HP:0012518 name: Abnormal circle of Willis morphology def: "An anomaly of the circle of Willis, also known as the cerebral arterial circle." [https://orcid.org/0000-0002-0736-9199] comment: The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries. synonym: "Abnormality of the cerebral arterial circle" EXACT [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4022868 is_a: HP:0009145 ! Abnormal cerebral artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-09T07:03:02Z [Term] id: HP:0012519 name: Hypoplastic posterior communicating artery def: "A developmental anomnaly characterized by underdevelopment of the posterior communicating artery." [https://orcid.org/0000-0001-5208-3432] comment: The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. synonym: "Hypoplastic posterior communicating arteries" RELATED [] xref: UMLS:C4020720 is_a: HP:0031772 ! Abnormal posterior circulating artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-09T07:06:12Z [Term] id: HP:0012520 name: Dilation of Virchow-Robin spaces def: "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery." [https://orcid.org/0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639] comment: Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through gray or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. synonym: "Dilated cerebral perivascular spaces" RELATED [] synonym: "Dilated Virchow-Robin spaces" EXACT [] synonym: "Perivascular spaces" EXACT [] xref: UMLS:C1853618 xref: UMLS:C4020719 is_a: HP:0100659 ! Abnormal cerebral vascular morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-09T07:17:47Z [Term] id: HP:0012521 name: Optic nerve aplasia def: "Congenital absence of the optic nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent optic nerve" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Aplastic optic nerve" EXACT [] xref: UMLS:C4021084 is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-12T02:15:31Z [Term] id: HP:0012522 name: Spider hemangioma def: "A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released." [https://orcid.org/0000-0002-0736-9199, PMID:22356347] comment: Spider hemangiomas are up to a few centimeters in diameter. xref: UMLS:C4022867 is_a: HP:0100585 ! Telangiectasia of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-14T08:31:15Z [Term] id: HP:0012523 name: Oral aversion def: "Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing)." [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3665983 is_a: HP:0100738 ! Abnormal eating behavior property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-14T09:18:51Z [Term] id: HP:0012524 name: Abnormal platelet shape def: "A deviation from the normal discoid platelet shape." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4022866 is_a: HP:0011875 ! Abnormal platelet morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T08:55:03Z [Term] id: HP:0012525 name: Abnormal alpha granule distribution def: "An anomalous location and arrangement of platelet alpha granules." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4022865 is_a: HP:0012483 ! Abnormal alpha granules property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T08:56:17Z [Term] id: HP:0012526 name: Absence of alpha granules def: "A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears." [https://orcid.org/0000-0002-0736-9199, PMID:3877532] synonym: "Gray platelets" EXACT [] synonym: "Grey platelets" EXACT uk_spelling [] xref: UMLS:C4022864 is_a: HP:0012528 ! Abnormal number of alpha granules property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T08:57:46Z [Term] id: HP:0012527 name: Abnormal alpha granule content def: "A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor." [https://orcid.org/0000-0002-0736-9199] comment: The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. xref: UMLS:C4022863 is_a: HP:0012483 ! Abnormal alpha granules property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:02:48Z [Term] id: HP:0012528 name: Abnormal number of alpha granules def: "A deviation from the normal count of alpha granules per thrombocyte." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4022862 is_a: HP:0012483 ! Abnormal alpha granules property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:07:34Z [Term] id: HP:0012529 name: Abnormal dense granule content def: "A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4021839 is_a: HP:0012484 ! Abnormal dense granules property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:12:44Z [Term] id: HP:0012530 name: Abnormal number of dense granules def: "A deviation from the normal count of dense granules per thrombocyte." [https://orcid.org/0000-0002-7744-1790] xref: UMLS:C4022861 is_a: HP:0012484 ! Abnormal dense granules property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:12:55Z [Term] id: HP:0012531 name: Pain def: "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [https://orcid.org/0000-0001-5208-3432] synonym: "Pain" EXACT layperson [] xref: SNOMEDCT_US:22253000 xref: UMLS:C0030193 is_a: HP:0025142 ! Constitutional symptom property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:38:08Z [Term] id: HP:0012532 name: Chronic pain def: "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months." [https://orcid.org/0000-0002-0736-9199, PMID:1875958] comment: Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. synonym: "Chronic pain" EXACT layperson [] synonym: "Long-lasting pain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:82423001 xref: UMLS:C0150055 is_a: HP:0012531 ! Pain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:46:55Z [Term] id: HP:0012533 name: Allodynia def: "Pain due to a stimulus that does not normally provoke pain." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:247404004 xref: UMLS:C0458247 is_a: HP:0012531 ! Pain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:47:40Z [Term] id: HP:0012534 name: Dysesthesia alt_id: HP:0031005 def: "Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds." [https://orcid.org/0000-0001-5208-3432] synonym: "Dysaesthesia" EXACT [] synonym: "Dysesthesias" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Hyperalgesia" EXACT [] synonym: "Hyperpathia" EXACT [] xref: SNOMEDCT_US:279079003 xref: UMLS:C0392699 is_a: HP:0010832 ! Abnormality of pain sensation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T09:59:55Z [Term] id: HP:0012535 name: Abnormal synaptic transmission def: "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process." [https://orcid.org/0000-0002-0736-9199, MP:0003635] synonym: "Abnormality of neurotransmitter metabolism" EXACT [] xref: UMLS:C4021083 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T10:12:31Z [Term] id: HP:0012536 name: Maternal anticardiolipin antibody positive def: "The presence of circulating autoantibodies to anticardiolipin in the mother." [https://orcid.org/0000-0001-5208-3432, PMID:1495720, PMID:9722063] comment: There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies. xref: UMLS:C4022860 is_a: HP:0011437 ! Maternal autoimmune disease property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T10:20:51Z [Term] id: HP:0012537 name: Food intolerance def: "A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction." [https://orcid.org/0000-0002-0736-9199] synonym: "Food intolerance" EXACT layperson [] synonym: "Non-allergic food hypersensitivity" EXACT [] xref: SNOMEDCT_US:235719002 xref: UMLS:C0149696 is_a: HP:0012337 ! Abnormal homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T10:25:19Z [Term] id: HP:0012538 name: Gluten intolerance def: "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease." [https://orcid.org/0000-0002-0736-9199] synonym: "Gluten intolerance" EXACT layperson [] synonym: "Gluten sensitivity" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:396331005 xref: SNOMEDCT_US:441831003 xref: UMLS:C0007570 xref: UMLS:C0850024 is_a: HP:0001984 ! Intolerance to protein property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T10:31:34Z [Term] id: HP:0012539 name: Non-Hodgkin lymphoma def: "A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:118601006 xref: SNOMEDCT_US:128929007 xref: SNOMEDCT_US:188675007 xref: SNOMEDCT_US:1929004 xref: UMLS:C0024305 is_a: HP:0002665 ! Lymphoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T10:45:49Z [Term] id: HP:0012540 name: Axillary epidermoid cyst def: "An epidermoid cyst in the armpit." [https://orcid.org/0000-0001-5208-3432] synonym: "Armpit cyst" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4022859 is_a: HP:0200040 ! Epidermoid cyst property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T10:35:39Z [Term] id: HP:0012541 name: Cephalohematoma def: "Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum." [https://orcid.org/0000-0001-5208-3432] comment: Cephalohematoma is generally caused by trauma during labor. synonym: "Cephalohaematoma" EXACT [] xref: SNOMEDCT_US:206200000 xref: SNOMEDCT_US:83095000 xref: UMLS:C0007722 is_a: HP:0001787 ! Abnormal delivery is_a: HP:0001892 ! Abnormal bleeding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T10:37:57Z [Term] id: HP:0012542 name: Onychauxis def: "Thickened nails without deformity." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:30654002 xref: UMLS:C0263536 is_a: HP:0001805 ! Onychogryphosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-15T10:49:45Z [Term] id: HP:0012543 name: Hemosiderinuria def: "The presence of hemosiderin in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin. xref: UMLS:C2721579 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-21T09:09:38Z [Term] id: HP:0012544 name: Elevated circulating aldolase concentration def: "Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal." [https://orcid.org/0000-0001-5208-3432] comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. synonym: "Elevated aldolase level" EXACT [] xref: UMLS:C4022858 is_a: HP:0012400 ! Abnormal circulating aldolase concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-21T09:18:43Z [Term] id: HP:0012545 name: Reduced circulating aldolase concentration def: "Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0001-5208-3432] comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. synonym: "Reduced aldolase level" EXACT [] xref: UMLS:C4022857 is_a: HP:0012400 ! Abnormal circulating aldolase concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-21T09:20:49Z [Term] id: HP:0012546 name: Skewed maternal X inactivation def: "A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells." [https://orcid.org/0000-0002-0736-9199, PMID:18097476] comment: X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status. xref: UMLS:C4022856 is_a: HP:0002686 ! Pregnancy history property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-21T09:22:57Z [Term] id: HP:0012547 name: Abnormal involuntary eye movements def: "Anomalous movements of the eyes that occur without the subject wanting them to happen." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022855 is_a: HP:0000496 ! Abnormality of eye movement property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2013-12-21T10:37:42Z [Term] id: HP:0012548 name: Fatty replacement of skeletal muscle def: "Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers" [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199] comment: Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography. synonym: "Skeletal muscle fatty infiltration" EXACT [] xref: UMLS:C4021082 is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-01T03:03:05Z [Term] id: HP:0012549 name: Conjunctival lipoma def: "A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva." [https://orcid.org/0000-0002-0736-9199] comment: Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells. xref: NCIT:C3192 xref: UMLS:C4022854 is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-01T03:13:56Z [Term] id: HP:0012550 name: Colonic varices def: "The presence of varices (enlarged and convoluted blood vessels) in the colon." [https://orcid.org/0000-0002-0736-9199, PMID:16688816] comment: Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension and more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum. xref: UMLS:C4022853 is_a: HP:0002250 ! Abnormal large intestine morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-01T03:54:41Z [Term] id: HP:0012551 name: Absent neutrophil specific granules def: "Lack of specific granules in neutrophils." [https://orcid.org/0000-0002-0736-9199, PMID:6155073] comment: Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums. xref: UMLS:C4022852 is_a: HP:0011992 ! Abnormal neutrophil morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-01T03:32:09Z [Term] id: HP:0012552 name: Increased neutrophil nuclear projections def: "Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022851 is_a: HP:0011992 ! Abnormal neutrophil morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-01T03:41:24Z [Term] id: HP:0012553 name: Hypoplastic thumbnail def: "A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Small thumbnail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped thumbnail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022850 is_a: HP:0001804 ! Hypoplastic fingernail property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T12:57:28Z [Term] id: HP:0012554 name: Absent thumbnail def: "Absence of thumb nail." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022849 is_a: HP:0001817 ! Absent fingernail property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T01:05:52Z [Term] id: HP:0012555 name: Absent nail of hallux def: "Absent nail of big toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent big toe nail" EXACT layperson [] synonym: "Absent nail of big toe" EXACT layperson [] xref: UMLS:C4021081 is_a: HP:0001802 ! Absent toenail property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T01:06:39Z [Term] id: HP:0012556 name: Hyperbeta-alaninemia def: "Increased concentration of beta-alanine in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood beta-alanine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperbetaalaninemia" EXACT [] xref: UMLS:C4021080 is_a: HP:0033109 ! Abnormal circulating non-proteinogenic amino acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T01:37:23Z [Term] id: HP:0012557 name: EEG with centrotemporal focal spike waves def: "EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022848 is_a: HP:0011197 ! EEG with focal spike waves is_a: HP:0033721 ! EEG with centrotemporal epileptiform discharges property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T01:43:32Z [Term] id: HP:0012558 name: Abnormal T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal." [https://orcid.org/0000-0002-0736-9199, PMID:16982586] xref: UMLS:C4022847 is_a: HP:0031508 ! Abnormal circulating thyroid hormone concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T01:50:30Z [Term] id: HP:0012559 name: Increased T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022846 is_a: HP:0012558 ! Abnormal T3/T4 ratio property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T01:52:59Z [Term] id: HP:0012560 name: Decreased T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022845 is_a: HP:0012558 ! Abnormal T3/T4 ratio property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T01:54:13Z [Term] id: HP:0012561 name: Unicuspid aortic valve def: "The presence of an aortic valve with one instead of the normal three cusps (flaps)." [https://orcid.org/0000-0002-0736-9199, PMID:18480095, PMID:20329493] comment: The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV. xref: SNOMEDCT_US:253610004 xref: UMLS:C0345001 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-08T08:14:15Z [Term] id: HP:0012562 name: Premature epimetaphyseal fusion in hand def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022844 is_a: HP:0010588 ! Premature epimetaphyseal fusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T02:02:35Z [Term] id: HP:0012563 name: Premature epimetaphyseal fusion in foot def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022843 is_a: HP:0010588 ! Premature epimetaphyseal fusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T02:05:25Z [Term] id: HP:0012564 name: Premature epimetaphyseal fusion in tibia def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022842 is_a: HP:0010588 ! Premature epimetaphyseal fusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T02:07:34Z [Term] id: HP:0012565 name: Premature epimetaphyseal fusion in fibula def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4021838 is_a: HP:0010588 ! Premature epimetaphyseal fusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T02:08:23Z [Term] id: HP:0012566 name: Premature epimetaphyseal fusion in radius def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022841 is_a: HP:0010588 ! Premature epimetaphyseal fusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T02:09:50Z [Term] id: HP:0012567 name: Premature epimetaphyseal fusion in ulna def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022840 is_a: HP:0010588 ! Premature epimetaphyseal fusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T02:10:05Z [Term] id: HP:0012568 name: Lower eyelid edema def: "Edema in the region of the Lower eyelid." [https://orcid.org/0000-0001-5208-3432] synonym: "Cellulitis of lower eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Fullness of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lower eyelid oedema" EXACT uk_spelling [] synonym: "Puffiness of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Swelling of lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:700327003 xref: UMLS:C2025810 xref: UMLS:C3839997 is_a: HP:0100540 ! Palpebral edema property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-04T02:25:56Z [Term] id: HP:0012569 name: Delayed menarche def: "First period after the age of 15 years." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed start of first period" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0949173 is_a: HP:0000140 ! Abnormality of the menstrual cycle is_a: HP:0000823 ! Delayed puberty property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-08T08:20:18Z [Term] id: HP:0012570 name: Synovial sarcoma def: "A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities." [https://orcid.org/0000-0002-0736-9199] comment: Synovial sarcoma is a high-grade tumor that is associated with poor prognosis. synonym: "Malignant synovioma" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:302851001 xref: SNOMEDCT_US:63211008 xref: UMLS:C0039101 is_a: HP:0030448 ! Soft tissue sarcoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-08T08:47:50Z [Term] id: HP:0012571 name: Ureter fissus def: "A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] comment: This anomaly is only seen in the presence of renal duplication. synonym: "Partially duplicated ureter" EXACT [] xref: ICD-10:Q62.5 "Duplication of ureter" xref: UMLS:C4021079 is_a: HP:0000073 ! Ureteral duplication property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T11:38:41Z [Term] id: HP:0012572 name: Ureter duplex def: "A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: ICD-10:Q62.5 "Duplication of ureter" xref: SNOMEDCT_US:49496001 xref: UMLS:C0221365 is_a: HP:0000073 ! Ureteral duplication property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T11:42:00Z [Term] id: HP:0012573 name: Global proximal tubulopathy def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022839 is_a: HP:0000114 ! Proximal tubulopathy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T12:27:40Z [Term] id: HP:0012574 name: Mesangial hypercellularity def: "Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, https://orcid.org/0000-0003-2356-950X, PMID:32866505] comment: See Figure 3a of PMID:32866505. synonym: "Mesangial proliferation" EXACT [] xref: SNOMEDCT_US:125510009 xref: UMLS:C0545017 is_a: HP:0033231 ! Abnormal glomerular mesangial cellularity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T12:43:25Z [Term] id: HP:0012575 name: Abnormal nephron morphology def: "A structural anomaly of the nephron." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Abnormality of the nephron" EXACT [] xref: UMLS:C4022838 is_a: HP:0012210 ! Abnormal renal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T12:49:04Z [Term] id: HP:0012576 name: Glomerular C3 deposition def: "The presence of complement 3 deposits in the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "C3 nephropathy" RELATED [] synonym: "Renal C3 deposition" EXACT [] xref: UMLS:C4022837 is_a: HP:0030949 ! Glomerular deposits property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T01:08:21Z [Term] id: HP:0012577 name: Thin glomerular basement membrane def: "Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-2356-950X, PMID:32866505] comment: This finding is demonstrated on renal biopsy. xref: UMLS:C3276821 is_a: HP:0033282 ! Abnormal glomerular basement membrane morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T01:21:17Z [Term] id: HP:0012578 name: Membranous nephropathy def: "A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Membranous glomerulonephritis" EXACT [] xref: SNOMEDCT_US:77182004 xref: UMLS:C0017665 is_a: HP:0000099 ! Glomerulonephritis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T01:22:41Z [Term] id: HP:0012579 name: Minimal change glomerulonephritis def: "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Minimal change disease" EXACT [] synonym: "Minimal change nephropathy" EXACT [] xref: SNOMEDCT_US:44785005 xref: UMLS:C0027721 is_a: HP:0000099 ! Glomerulonephritis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T01:26:20Z [Term] id: HP:0012580 name: Calcium phosphate nephrolithiasis def: "The presence of calcium- and phosphate-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Ca phosphate nephrolithiasis" EXACT abbreviation [] synonym: "Ca phosphate urolithiasis" EXACT abbreviation [] synonym: "Ca2+ phosphate nephrolitiasis" EXACT abbreviation [] synonym: "Ca2+ phosphate urolithiasis" EXACT abbreviation [] synonym: "Calcium phosphate urolithiasis" RELATED [] xref: UMLS:C3671880 is_a: HP:0004724 ! Calcium nephrolithiasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T01:34:27Z [Term] id: HP:0012581 name: Simple renal cyst def: "An isolated cyst of the kidney." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Simple kidney cyst" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "single cortical cyst" EXACT [] synonym: "Solitary renal cyst" EXACT [] xref: SNOMEDCT_US:77945009 xref: UMLS:C0268800 xref: UMLS:C4022836 is_a: HP:0000107 ! Renal cyst property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:06:37Z [Term] id: HP:0012582 name: Bilateral renal dysplasia def: "A bilateral form of developmental dysplasia of the kidney." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204950001 xref: UMLS:C0431698 is_a: HP:0000110 ! Renal dysplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:14:35Z [Term] id: HP:0012583 name: Unilateral renal hypoplasia def: "One sided hypoplasia of the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Small kidney on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped kidney on one side" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:204948009 xref: UMLS:C0431691 is_a: HP:0000089 ! Renal hypoplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:15:30Z [Term] id: HP:0012584 name: Bilateral renal hypoplasia def: "Two sided hypoplasia of the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: SNOMEDCT_US:268232000 xref: UMLS:C0431692 is_a: HP:0000089 ! Renal hypoplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:16:03Z [Term] id: HP:0012585 name: Renal atrophy def: "Atrophy of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:197659005 xref: UMLS:C0341698 is_a: HP:0012210 ! Abnormal renal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:21:19Z [Term] id: HP:0012586 name: Bilateral renal atrophy def: "A two-sided form of atrophy of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral kidney degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022835 is_a: HP:0012585 ! Renal atrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:21:55Z [Term] id: HP:0012587 name: Macroscopic hematuria def: "Hematuria that is visible upon inspection of the urine." [https://orcid.org/0009-0006-4530-3154] synonym: "Bloody urine" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Gross hematuria" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:197941005 xref: UMLS:C0473237 is_a: HP:0000790 ! Hematuria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:31:44Z [Term] id: HP:0012588 name: Steroid-resistant nephrotic syndrome def: "A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, https://orcid.org/0000-0002-2234-4248, PMID:29910038] comment: Genetic studies and biopsy are necessary. Treatment depends on result. Genetic forms are treated symptomatically with ACE-inhibitor or angiotensin receptor blockers. Non-genetic forms are usually treated with calcineurin inhibitors. Prognosis is worse than in SSNS. 50 % progress into end-stage renal disease. synonym: "SRNS" EXACT abbreviation [] xref: SNOMEDCT_US:236381000 xref: UMLS:C0403397 is_a: HP:0000100 ! Nephrotic syndrome property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:47:57Z [Term] id: HP:0012589 name: Multidrug-resistant nephrotic syndrome def: "A form of nephrotic syndrome that does not respond to any immunosuppresive treatment." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: UMLS:C4022834 is_a: HP:0000100 ! Nephrotic syndrome property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:48:49Z [Term] id: HP:0012590 name: Abnormal urine output def: "An abnormal amount of urine production." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: UMLS:C3693260 is_a: HP:0011036 ! Abnormality of renal excretion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T03:59:33Z [Term] id: HP:0012591 name: Abnormal urinary electrolyte concentration def: "An abnormality in the concentration of electrolytes in the urine." [PMID:25215103] synonym: "Urinary electrolyte imbalance" EXACT [] xref: UMLS:C4022833 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:44:11Z [Term] id: HP:0012592 name: Albuminuria def: "Increased concentration of albumin in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: SNOMEDCT_US:274769005 xref: UMLS:C0001925 is_a: HP:0020129 ! Abnormal urine protein level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:49:16Z [Term] id: HP:0012593 name: Nephrotic range proteinuria def: "Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: SNOMEDCT_US:264867001 xref: UMLS:C0445118 is_a: HP:0000093 ! Proteinuria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:50:21Z [Term] id: HP:0012594 name: Moderate albuminuria def: "The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:30571025] synonym: "High urine albumin levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Microalbuminuria" EXACT [] xref: SNOMEDCT_US:312975006 xref: UMLS:C0730345 xref: UMLS:C1654921 is_a: HP:0012592 ! Albuminuria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:54:41Z [Term] id: HP:0012595 name: Mild proteinuria def: "Mildly increased levels of protein in the urine (150-500 mg per day in adults)." [HPO_CONTRIBUTOR:Eurenomics_eweuehl] xref: UMLS:C4022832 is_a: HP:0000093 ! Proteinuria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:55:47Z [Term] id: HP:0012596 name: Moderate proteinuria def: "Moderately increased levels of protein in the urine (500-1000 mg per day in adults)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: UMLS:C4022831 is_a: HP:0000093 ! Proteinuria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:56:26Z [Term] id: HP:0012597 name: Heavy proteinuria def: "Severely increased levels of protein in the urine (1000-3000 mg per day in adults)." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Severely high blood protein levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022830 is_a: HP:0000093 ! Proteinuria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T05:56:38Z [Term] id: HP:0012598 name: Abnormal urine potassium concentration def: "An abnormal concentration of potassium(1+) in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Abnormal urine K concentration" EXACT abbreviation [] xref: UMLS:C4022829 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:11:59Z [Term] id: HP:0012599 name: Abnormal urine phosphate concentration def: "An abnormal phosphate concentration in the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: UMLS:C4022828 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:14:49Z [Term] id: HP:0012600 name: Abnormal urine chloride concentration def: "An abnormal concentration of chloride in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Abnormal urine Cl concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal urine Cl- concentration" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4022827 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:16:24Z [Term] id: HP:0012601 name: Hypochloriduria def: "An decreased concentration of chloride in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased urinary chloride" EXACT [] synonym: "Low urine chloride levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021078 is_a: HP:0012600 ! Abnormal urine chloride concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:17:06Z [Term] id: HP:0012602 name: Renal chloride wasting def: "High urine chloride in the presence of hypochloridemia." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Kidney chloride wasting" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Renal Cl wasting" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Renal Cl- wasting" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4022826 is_a: HP:0012600 ! Abnormal urine chloride concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:18:11Z [Term] id: HP:0012603 name: Abnormal urine sodium concentration def: "An abnormal concentration of sodium in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Abnormal urine Na concentration" EXACT [] synonym: "Abnormal urine Na+ levels" EXACT [] xref: UMLS:C4022825 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:19:27Z [Term] id: HP:0012604 name: Hyponatriuria def: "An abnormally decreased sodium concentration in the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Low urine sodium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022824 is_a: HP:0012603 ! Abnormal urine sodium concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:22:09Z [Term] id: HP:0012605 name: Hypernatriuria alt_id: HP:0003608 def: "An increased concentration of sodium(1+) in the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Increased urinary sodium" EXACT [] xref: UMLS:C3671887 is_a: HP:0012603 ! Abnormal urine sodium concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:22:44Z [Term] id: HP:0012606 name: Renal sodium wasting def: "An abnormally increased sodium concentration in the urine in the presence of hyponatremia." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Kidney sodium wasting" EXACT [] synonym: "Renal Na wasting" EXACT abbreviation [] synonym: "Renal Na+ wasting" EXACT abbreviation [] xref: UMLS:C2748576 is_a: HP:0012603 ! Abnormal urine sodium concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-16T06:23:16Z [Term] id: HP:0012607 name: Abnormal urine magnesium concentration def: "An abnormal concentration of magnesium the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Abnormal urine magnesium concentration" EXACT layperson [] xref: UMLS:C4022823 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:37:50Z [Term] id: HP:0012608 name: Hypermagnesiuria def: "An increased concentration of magnesium the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: UMLS:C2673443 is_a: HP:0012607 ! Abnormal urine magnesium concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:38:51Z [Term] id: HP:0012609 name: Hypomagnesiuria def: "An decreased concentration of magnesium the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Decreased urine magnesium" EXACT layperson [] synonym: "Low urine magnesium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3203528 is_a: HP:0012607 ! Abnormal urine magnesium concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:39:31Z [Term] id: HP:0012610 name: Abnormality of urinary uric acid level def: "Abnormal amount of urate in the urine." [https://orcid.org/0000-0002-0736-9199] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. xref: UMLS:C4022822 is_a: HP:6000531 ! Abnormal urinary organic compound level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:56:43Z [Term] id: HP:0012611 name: obsolete Increased urinary urate property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0003149 creation_date: 2014-01-17T11:57:29Z [Term] id: HP:0012612 name: Abnormal urinary sulfate concentration def: "Abnormal concentration of sulfate in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal urinary sulphate concentration" EXACT uk_spelling [] xref: UMLS:C4022821 is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:58:23Z [Term] id: HP:0012613 name: Increased urinary sulfate def: "Elevated concentration of SO4(2-), i.e., sulfate, in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased urinary sulphate" EXACT uk_spelling [] xref: UMLS:C4022820 is_a: HP:0012612 ! Abnormal urinary sulfate concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:58:51Z [Term] id: HP:0012614 name: Abnormal urine cytology def: "An anomalous finding in the examination of the urine for cells." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: SNOMEDCT_US:310439007 xref: UMLS:C0587955 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:01:16Z [Term] id: HP:0012615 name: Cylindruria def: "The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, PMID:26079824] comment: Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle. {xref="PMID:26079824"} synonym: "Urinary casts" EXACT [] xref: SNOMEDCT_US:5277004 xref: UMLS:C0151990 is_a: HP:0012614 ! Abnormal urine cytology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:03:19Z [Term] id: HP:0012616 name: Leukocyte cylindruria def: "Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "White blood cell casts" EXACT [] xref: UMLS:C4022819 is_a: HP:0031197 ! Cellular urinary casts property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:05:08Z [Term] id: HP:0012617 name: Erythrocyte cylindruria def: "Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:8856231] synonym: "Red blood cell casts" EXACT [] synonym: "Urinary erythrocyte cast" EXACT [] xref: UMLS:C4022818 is_a: HP:0031197 ! Cellular urinary casts property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:06:50Z [Term] id: HP:0012618 name: Urachal cyst def: "A cyst located along the allantois canal." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: SNOMEDCT_US:17234001 xref: UMLS:C0041915 is_a: HP:0010478 ! Abnormality of the urachus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:15:15Z [Term] id: HP:0012619 name: Multiple bladder diverticula def: "Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Multiple pouches in bladder wall" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4022817 is_a: HP:0000015 ! Bladder diverticulum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:21:05Z [Term] id: HP:0012620 name: Cloacal abnormality def: "A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022816 is_a: HP:0000119 ! Abnormality of the genitourinary system is_a: HP:0010866 ! Abdominal wall defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:27:06Z [Term] id: HP:0012621 name: Persistent cloaca def: "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel." [https://orcid.org/0000-0002-0736-9199] synonym: "Cloacogenic bladder" EXACT [] xref: SNOMEDCT_US:74829002 xref: UMLS:C0266225 is_a: HP:0012620 ! Cloacal abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T12:28:30Z [Term] id: HP:0012622 name: Chronic kidney disease alt_id: HP:0000106 alt_id: HP:0001918 alt_id: HP:0008671 def: "Functional anomaly of the kidney persisting for at least three months." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Chronic kidney disease" EXACT layperson [] synonym: "CKD" EXACT abbreviation [] synonym: "Loss of renal function" RELATED [] synonym: "Progressive renal failure" RELATED [] synonym: "Progressive renal insufficiency" RELATED [] synonym: "Renal failure, progressive" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Renal insufficiency, progressive" RELATED [] xref: SNOMEDCT_US:709044004 xref: UMLS:C0748318 xref: UMLS:C1561643 is_a: HP:0000083 ! Renal insufficiency property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T01:14:52Z [Term] id: HP:0012623 name: Stage 1 chronic kidney disease def: "A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] comment: Proteinuria is commonly seen in stage 1 chronic kidney disease. xref: SNOMEDCT_US:431855005 xref: UMLS:C2316401 is_a: HP:0012622 ! Chronic kidney disease property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T01:20:48Z [Term] id: HP:0012624 name: Stage 2 chronic kidney disease def: "A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: SNOMEDCT_US:431856006 xref: UMLS:C2316786 is_a: HP:0012622 ! Chronic kidney disease property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T01:22:13Z [Term] id: HP:0012625 name: Stage 3 chronic kidney disease def: "A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] xref: SNOMEDCT_US:433144002 xref: UMLS:C2316787 is_a: HP:0012622 ! Chronic kidney disease property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T01:22:43Z [Term] id: HP:0012626 name: Stage 4 chronic kidney disease def: "A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Stage 4 chronic kidney disease" EXACT layperson [] xref: SNOMEDCT_US:431857002 xref: UMLS:C2317473 is_a: HP:0012622 ! Chronic kidney disease property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T01:23:43Z [Term] id: HP:0012627 name: Pseudoexfoliation def: "Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor." [https://orcid.org/0000-0002-0736-9199, PMID:23157966] comment: In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork. xref: UMLS:C4022815 is_a: HP:0004328 ! Abnormal anterior eye segment morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T10:50:32Z [Term] id: HP:0012628 name: Abnormal suspensory ligament of lens morphology def: "An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the suspensory ligament of lens" EXACT [] synonym: "Abnormality of zinn's membrane" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, https://orcid.org/0000-0001-6908-9849] synonym: "Ciliary zonule abnormality" EXACT [] synonym: "Zonule of zinn abnormality" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021077 is_a: HP:0004328 ! Abnormal anterior eye segment morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T10:59:37Z [Term] id: HP:0012629 name: Phakodonesis def: "Tremulousness (trembling) of the lens of the eye." [https://orcid.org/0000-0002-0736-9199, PMID:5472193] comment: Phacodonesis results from lesions of some or most of the zonular fibers are broken. synonym: "Phacodonesis" EXACT [] synonym: "Trembling eye lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:116669003 xref: UMLS:C2939415 is_a: HP:0000517 ! Abnormal lens morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:03:09Z [Term] id: HP:0012630 name: Abnormal trabecular meshwork morphology def: "An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the trabecular meshwork" EXACT [] xref: UMLS:C4022814 is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:12:27Z [Term] id: HP:0012631 name: Pigment deposition in the trabecular meshwork def: "Accumulation of abnormal amounts of pigment within the trabecular meshwork." [https://orcid.org/0000-0002-0736-9199] comment: Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork. xref: UMLS:C3805899 is_a: HP:0012630 ! Abnormal trabecular meshwork morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:15:03Z [Term] id: HP:0012632 name: Abnormal intraocular pressure def: "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal eye pressure" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormal intraocular pressure" EXACT layperson [] xref: MP:0005257 "Abnormal intraocular pressure" xref: SNOMEDCT_US:24075007 xref: UMLS:C0520999 is_a: HP:0012373 ! Abnormal eye physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:20:17Z [Term] id: HP:0012633 name: Asymmetry of intraocular pressure def: "A difference in the amount of intraocular pressure in the right and left eye." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C3805901 is_a: HP:0012632 ! Abnormal intraocular pressure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:21:18Z [Term] id: HP:0012634 name: Iris pigment dispersion def: "Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor." [https://orcid.org/0000-0002-0736-9199] comment: These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263. xref: UMLS:C4022813 is_a: HP:0008034 ! Abnormal iris pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:30:02Z [Term] id: HP:0012635 name: Iris hypoperfusion def: "Reduction in the amount of blood flow to the iris." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be diagnosed by iris angiography. xref: UMLS:C4022812 is_a: HP:0007905 ! Abnormal iris vasculature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:41:07Z [Term] id: HP:0012636 name: Retinal vein occlusion def: "Blockage of the retinal vein." [https://orcid.org/0000-0002-0736-9199] comment: Retinal vein occlusion can lead to edema and ischemia of the retina. xref: SNOMEDCT_US:46085004 xref: UMLS:C0035328 is_a: HP:0008046 ! Abnormal retinal vascular morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-17T11:43:32Z [Term] id: HP:0012637 name: Renal calcium wasting def: "High urine calcium in the presence of hypocalcemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney Ca wasting" EXACT layperson [] synonym: "Kidney Ca2+ wasting" EXACT layperson [] synonym: "Kidney calcium wasting" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Renal Ca wasting" EXACT abbreviation [] synonym: "Renal Ca2+ wasting" EXACT abbreviation [] xref: UMLS:C2673441 is_a: HP:0011280 ! Abnormality of urine calcium concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-18T04:46:41Z [Term] id: HP:0012638 name: Abnormal nervous system physiology def: "A functional anomaly of the nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of nervous system physiology" EXACT [] xref: UMLS:C4022811 is_a: HP:0000707 ! Abnormality of the nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-19T08:02:46Z [Term] id: HP:0012639 name: Abnormal nervous system morphology def: "A structural anomaly of the nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of nervous system" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of nervous system morphology" EXACT [] xref: Fyler:4135 xref: Fyler:4300 xref: UMLS:C4022810 is_a: HP:0000707 ! Abnormality of the nervous system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-19T08:03:08Z [Term] id: HP:0012640 name: Abnormality of intracranial pressure def: "A deviation from the norm of the intracranial pressure." [https://orcid.org/0000-0002-0736-9199] comment: Intracranial pressure (i.e., the pressure inside the skull) represents the pressure in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF. xref: UMLS:C4022809 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-19T08:06:51Z [Term] id: HP:0012641 name: Decreased intracranial pressure def: "A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [https://orcid.org/0000-0002-0736-9199] synonym: "Intracranial hypotension" EXACT [] xref: SNOMEDCT_US:167714004 xref: SNOMEDCT_US:277657001 xref: UMLS:C0456892 is_a: HP:0012640 ! Abnormality of intracranial pressure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-19T08:15:01Z [Term] id: HP:0012642 name: Cerebellar agenesis def: "Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles." [https://orcid.org/0000-0002-0736-9199, PMID:20305277, PMID:26331051] comment: Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. A secondary pontine hypoplasia is typically seen. The definition of cerebellar agenesis is based on the morphologic pattern and does not suggest the pathogenesis. Cerebellar agenesis may represent a malformation (e.g., mutations in PTF1A) or a disruption (e.g., hemorrhage that occurs during gestation or in the perinatal period, vascular insufficiency in Chiari II malformation and cerebellar herniation, and as a sequela of prematurity). xref: UMLS:C4022808 is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-22T08:14:57Z [Term] id: HP:0012643 name: Foveal hypopigmentation def: "Decreased amount of pigmentation in the fovea centralis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022807 is_a: HP:0030493 ! Abnormality of foveal pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-22T09:25:34Z [Term] id: HP:0012644 name: Increased caudate lactate level def: "An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging." [https://orcid.org/0000-0002-0736-9199, PMID:23810640] xref: UMLS:C4022806 is_a: HP:0002339 ! Abnormal caudate nucleus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-01-28T08:19:22Z [Term] id: HP:0012645 name: Enlarged peripheral nerve def: "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id). synonym: "Enlarged peripheral nerves" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C2675074 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-01T12:44:16Z [Term] id: HP:0012646 name: Retractile testis def: "A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex." [https://orcid.org/0000-0002-0736-9199, PMID:23061004, PMID:4380054] synonym: "Retractile testicle" EXACT [] xref: SNOMEDCT_US:21779006 xref: UMLS:C0520578 is_a: HP:0000035 ! Abnormal testis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-01T12:57:41Z [Term] id: HP:0012647 name: Abnormal inflammatory response def: "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [https://orcid.org/0000-0001-9114-8737] synonym: "Abnormal inflammatory response" EXACT layperson [] xref: UMLS:C4022805 is_a: HP:0010978 ! Abnormality of immune system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-01T01:25:42Z [Term] id: HP:0012648 name: Decreased inflammatory response def: "An abnormal reduction in the inflammatory response to injury or infection." [https://orcid.org/0000-0001-9114-8737] synonym: "Decreased inflammatory response" EXACT layperson [] xref: UMLS:C4022804 is_a: HP:0012647 ! Abnormal inflammatory response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-01T01:29:24Z [Term] id: HP:0012649 name: Increased inflammatory response def: "A abnormal increase in the inflammatory response to injury or infection." [https://orcid.org/0000-0001-9114-8737] xref: UMLS:C4022803 is_a: HP:0012647 ! Abnormal inflammatory response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-01T01:29:58Z [Term] id: HP:0012650 name: Perisylvian polymicrogyria alt_id: HP:0007095 def: "Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:15159468, PMID:20301504] comment: The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly. synonym: "Frontoparietal polymicrogyria" EXACT [] xref: UMLS:C3279675 is_a: HP:0002126 ! Polymicrogyria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-06T07:47:51Z [Term] id: HP:0012651 name: Abasia def: "A severe form of gait ataxia such that an affected person cannot walk at all." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0877217 is_a: HP:0002066 ! Gait ataxia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-06T07:52:50Z [Term] id: HP:0012652 name: Exercise-induced asthma def: "Asthma attacks following exercise." [https://orcid.org/0000-0002-0736-9199] synonym: "Exercise-induced asthma" EXACT layperson [] xref: SNOMEDCT_US:31387002 xref: UMLS:C0004099 is_a: HP:0002099 ! Asthma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-12T10:42:14Z [Term] id: HP:0012653 name: Status asthmaticus def: "Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine." [https://orcid.org/0000-0002-0736-9199, PMID:22794687] synonym: "Acute severe asthma" EXACT layperson [] xref: SNOMEDCT_US:708090002 xref: UMLS:C0038218 is_a: HP:0002099 ! Asthma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-12T10:43:34Z [Term] id: HP:0012654 name: Abnormal CSF dopamine concentration def: "Abnormal concentration of dopamine in the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0001-9114-8737] synonym: "Abnormal CSF dopamine level" EXACT [] xref: UMLS:C4022802 is_a: HP:0025454 ! Abnormal CSF metabolite concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T10:35:24Z [Term] id: HP:0012655 name: Elevated CSF dopamine concentration def: "Increased concentration of dopamine in the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0001-9114-8737] xref: UMLS:C4022801 is_a: HP:0012654 ! Abnormal CSF dopamine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T10:36:53Z [Term] id: HP:0012656 name: Reduced CSF dopamine concentration def: "Decreased concentration of dopamine in the cerebrospinal fluid (CSF)." [https://orcid.org/0000-0001-9114-8737] xref: UMLS:C4022800 is_a: HP:0012654 ! Abnormal CSF dopamine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T10:37:27Z [Term] id: HP:0012657 name: Abnormal brain positron emission tomography def: "A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain." [https://orcid.org/0000-0002-0736-9199] comment: Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639). synonym: "Abnormal brain PET scan" EXACT abbreviation [] xref: UMLS:C4022799 is_a: HP:0410263 ! Brain imaging abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T11:22:18Z [Term] id: HP:0012658 name: Abnormal brain FDG positron emission tomography def: "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal brain FDG PET scan" EXACT abbreviation [] xref: UMLS:C4022798 is_a: HP:0012657 ! Abnormal brain positron emission tomography property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T11:29:38Z [Term] id: HP:0012659 name: Prefrontal hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan." [https://orcid.org/0000-0002-0736-9199, PMID:23585882] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex. xref: UMLS:C4022797 is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T11:33:12Z [Term] id: HP:0012660 name: Thalamic hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan." [https://orcid.org/0000-0002-0736-9199] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus. xref: UMLS:C4022796 is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T11:35:25Z [Term] id: HP:0012661 name: Hypothalamic hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan." [https://orcid.org/0000-0002-0736-9199] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus. xref: UMLS:C4022795 is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T11:37:59Z [Term] id: HP:0012662 name: Parietal hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan." [https://orcid.org/0000-0002-0736-9199, PMID:15073255] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex. xref: UMLS:C4022794 is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T11:45:41Z [Term] id: HP:0012663 name: Mildly reduced left ventricular ejection fraction def: "A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent." [https://orcid.org/0000-0002-0736-9199, PMID:16376782, PMID:27206819] synonym: "Mildly reduced ejection fraction" EXACT [] xref: UMLS:C4022793 is_a: HP:0012664 ! Reduced left ventricular ejection fraction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:06:28Z [Term] id: HP:0012664 name: Reduced left ventricular ejection fraction def: "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle." [https://orcid.org/0000-0002-0736-9199] comment: The normal range is at least 55 percent. synonym: "Reduced ejection fraction" EXACT [] xref: UMLS:C4022792 is_a: HP:0025169 ! Left ventricular systolic dysfunction is_a: HP:0034314 ! Abnormal left ventricular ejection fraction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:03:37Z [Term] id: HP:0012665 name: Moderately reduced left ventricular ejection fraction def: "A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent." [https://orcid.org/0000-0002-0736-9199, PMID:16376782, PMID:27206819, PMID:29083812] comment: The normal range in adults is over 50 percent, and a moderate reduction can be defined as 30-39 percent. synonym: "Moderately reduced ejection fraction" EXACT [] xref: UMLS:C4022791 is_a: HP:0012664 ! Reduced left ventricular ejection fraction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:08:33Z [Term] id: HP:0012666 name: Severely reduced left ventricular ejection fraction def: "A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent." [https://orcid.org/0000-0002-0736-9199, PMID:16376782, PMID:27206819, PMID:29083812] synonym: "Severely reduced ejection fraction" EXACT [] xref: UMLS:C4022790 is_a: HP:0012664 ! Reduced left ventricular ejection fraction property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:09:02Z [Term] id: HP:0012667 name: Regional left ventricular wall motion abnormality def: "An abnormal motion of a segment of the left ventricle during the cardiac cycle." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion. xref: UMLS:C4022789 is_a: HP:0005162 ! Abnormal left ventricular function property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:12:48Z [Term] id: HP:0012668 name: Vasovagal syncope def: "A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone." [PMID:29262088] synonym: "Neurocardiogenic syncope" EXACT [] synonym: "Reflex syncope" EXACT [] synonym: "Situational syncope" EXACT [] synonym: "Vasovagal episode" EXACT [] xref: SNOMEDCT_US:234167006 xref: SNOMEDCT_US:398652001 xref: SNOMEDCT_US:398665005 xref: UMLS:C0042420 xref: UMLS:C0340854 is_a: HP:0001279 ! Syncope property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:33:13Z [Term] id: HP:0012669 name: Carotid sinus syncope def: "An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion." [https://orcid.org/0000-0002-0736-9199] comment: Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving). xref: SNOMEDCT_US:51723007 xref: UMLS:C0221046 is_a: HP:0001279 ! Syncope property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:39:14Z [Term] id: HP:0012670 name: Orthostatic syncope def: "Syncope following a quick change in position from lying down to standing." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0749201 is_a: HP:0001279 ! Syncope property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-15T01:41:57Z [Term] id: HP:0012671 name: Abulia def: "Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions." [] comment: Abulia is less severe than kinetic mutism and more severe than apathy. synonym: "Aboulia" EXACT [] xref: UMLS:C0919974 is_a: HP:0000745 ! Abnormal diminished volition property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-27T10:48:32Z [Term] id: HP:0012672 name: Akinetic mutism def: "The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor." [https://orcid.org/0000-0002-0736-9199] comment: Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking. synonym: "Stuporous mutism" EXACT [] xref: SNOMEDCT_US:53333005 xref: UMLS:C0001889 is_a: HP:0000745 ! Abnormal diminished volition property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-27T10:50:59Z [Term] id: HP:0012673 name: Aplasia of the upper vagina def: "A failure to develop of the upper vagina." [https://orcid.org/0000-0002-0736-9199] comment: The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia. synonym: "Absent upper vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022788 is_a: HP:0003250 ! Aplasia of the vagina property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-27T11:00:26Z [Term] id: HP:0012674 name: Aplasia of the lower vagina def: "A failure to develop of the lower part of the vagina." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent lower vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Agenesis of the lower vagina" EXACT [] xref: SNOMEDCT_US:253834007 xref: UMLS:C0431646 is_a: HP:0003250 ! Aplasia of the vagina property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-02-27T11:09:14Z [Term] id: HP:0012675 name: Iron accumulation in brain def: "An abnormal build up of iron (Fe) in brain tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Brain iron deposition" EXACT [] synonym: "Iron accumulation in brain" EXACT layperson [] xref: UMLS:C4021076 is_a: HP:0012443 ! Abnormal brain morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-03-13T07:22:40Z [Term] id: HP:0012676 name: Copper accumulation in brain def: "An anomalous build up of copper (Cu) in the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Brain copper accumulation" EXACT [] synonym: "Copper accumulation in brain" EXACT layperson [] xref: UMLS:C4022787 is_a: HP:0012443 ! Abnormal brain morphology is_a: HP:0032243 ! Abnormal tissue metabolite concentration creation_date: 2014-03-13T07:28:03Z [Term] id: HP:0012677 name: obsolete Iron accumulation in globus pallidus property_value: terms:creator https://orcid.org/0000-0002-6996-5279 is_obsolete: true replaced_by: HP:0002454 creation_date: 2014-03-13T07:29:37Z [Term] id: HP:0012678 name: Iron accumulation in substantia nigra def: "An anomalous build up of iron (Fe) in the substantia nigra." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022785 is_a: HP:0012675 ! Iron accumulation in brain is_a: HP:0045007 ! Abnormal substantia nigra morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-03-13T07:29:54Z [Term] id: HP:0012679 name: Widened interpedicular distance def: "An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022784 is_a: HP:0008438 ! Vertebral arch anomaly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T12:41:17Z [Term] id: HP:0012680 name: Abnormality of the pineal gland def: "An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022783 is_a: HP:0000818 ! Abnormality of the endocrine system property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T12:46:36Z [Term] id: HP:0012681 name: Abnormal pineal morphology def: "A structural abnormality of the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang] comment: The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies. synonym: "Abnormality of pineal morphology" EXACT [] xref: UMLS:C4022782 is_a: HP:0012443 ! Abnormal brain morphology is_a: HP:0012680 ! Abnormality of the pineal gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T12:50:21Z [Term] id: HP:0012682 name: Pineal gland calcification def: "Accumulation of calcium salts in the pineal gland." [https://orcid.org/0000-0002-0736-9199] comment: This feature can be appreciated on skull radiography. xref: UMLS:C1398718 is_a: HP:0012681 ! Abnormal pineal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T12:51:57Z [Term] id: HP:0012683 name: Pineal cyst def: "A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland." [https://orcid.org/0000-0002-0736-9199, PMID:21801982] comment: Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging. xref: SNOMEDCT_US:413099000 xref: UMLS:C1335411 is_a: HP:0010576 ! Intracranial cystic lesion is_a: HP:0012681 ! Abnormal pineal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T01:01:45Z [Term] id: HP:0012684 name: Abnormal pineal volume def: "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang] comment: This feature is typically assessed by magnetic resonance tomography of the brain. xref: UMLS:C4022781 is_a: HP:0012681 ! Abnormal pineal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T01:08:48Z [Term] id: HP:0012685 name: Decreased pineal volume def: "An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:24456088] xref: UMLS:C4022780 is_a: HP:0012684 ! Abnormal pineal volume property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T01:10:12Z [Term] id: HP:0012686 name: Increased pineal volume def: "An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022779 is_a: HP:0012684 ! Abnormal pineal volume property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T01:11:33Z [Term] id: HP:0012687 name: Agenesis of pineal gland def: "Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C3553078 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012681 ! Abnormal pineal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T01:13:13Z [Term] id: HP:0012688 name: Abnormality of pineal physiology def: "A functional abnormality of the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022778 is_a: HP:0012638 ! Abnormal nervous system physiology is_a: HP:0012680 ! Abnormality of the pineal gland property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T01:15:36Z [Term] id: HP:0012689 name: Abnormal pineal melatonin secretion def: "An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:22724080] comment: The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2. xref: UMLS:C4022777 is_a: HP:0012688 ! Abnormality of pineal physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T01:16:40Z [Term] id: HP:0012690 name: T2 hypointense thalamus def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022776 is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T04:32:50Z [Term] id: HP:0012691 name: Focal T2 hypointense thalamic lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022775 is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T04:52:32Z [Term] id: HP:0012692 name: Focal T2 hyperintense thalamic lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus." [https://orcid.org/0000-0002-0736-9199] comment: The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis. xref: UMLS:C4022774 is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T04:54:03Z [Term] id: HP:0012693 name: Abnormal thalamic size def: "Deviation from the normal range of size of the thalamus." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022773 is_a: HP:0010663 ! Abnormal thalamus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T05:45:51Z [Term] id: HP:0012694 name: Enlarged thalamic volume def: "An increase in the quantity of space occupied by the thalamus." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022772 is_a: HP:0012693 ! Abnormal thalamic size property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T05:47:14Z [Term] id: HP:0012695 name: Decreased thalamic volume def: "A reduction in the quantity of space occupied by the thalamus." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022771 is_a: HP:0012693 ! Abnormal thalamic size property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T05:48:28Z [Term] id: HP:0012696 name: Abnormal thalamic MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022770 is_a: HP:0010663 ! Abnormal thalamus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T05:49:08Z [Term] id: HP:0012697 name: Small basal ganglia def: "Decreased size of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022769 is_a: HP:0002134 ! Abnormal basal ganglia morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T06:01:22Z [Term] id: HP:0012698 name: Cerebellar gliosis def: "Focal proliferation of glial cells in the cerebellum." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022768 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0002171 ! Gliosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T06:03:03Z [Term] id: HP:0012699 name: Anomaly of lower limb diaphyses def: "A structural abnormality of a diaphysis of the leg." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Anomaly of shaft of long bone of lower limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022767 is_a: HP:0000940 ! Abnormal diaphysis morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T06:14:15Z [Term] id: HP:0012700 name: Abnormal large intestine physiology def: "A functional anomaly of the large intestine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022766 is_a: HP:0025032 ! Abnormality of digestive system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T06:20:38Z [Term] id: HP:0012701 name: Bowel urgency def: "A sudden, irresistible need to have a bowel movement." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Faecal urgency" EXACT uk_spelling [] synonym: "Fecal urgency" EXACT [] xref: SNOMEDCT_US:71820002 xref: UMLS:C0426636 is_a: HP:0012700 ! Abnormal large intestine physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T06:22:14Z [Term] id: HP:0012702 name: Tenesmus def: "A repeated, painful urge to defecate without excreting stool." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:267053000 xref: SNOMEDCT_US:6548007 xref: UMLS:C0232726 is_a: HP:0012700 ! Abnormal large intestine physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T06:23:05Z [Term] id: HP:0012703 name: Abnormal subarachnoid space morphology def: "Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Abnormality of the subarachnoid space" EXACT [] xref: UMLS:C4022765 is_a: HP:0002011 ! Morphological central nervous system abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T07:45:24Z [Term] id: HP:0012704 name: Widened subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged subarachnoid space" EXACT [] synonym: "Widened subarachnoid spaces" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1846151 is_a: HP:0012703 ! Abnormal subarachnoid space morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T07:59:21Z [Term] id: HP:0012705 name: Abnormal metabolic brain imaging by MRS def: "An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS)." [https://orcid.org/0000-0002-0736-9199] comment: MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine. xref: UMLS:C4022764 is_a: HP:0410263 ! Brain imaging abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T08:04:18Z [Term] id: HP:0012706 name: Elevated brain choline level by MRS def: "An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO_CONTRIBUTOR:UToronto_htrang] comment: The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue. xref: UMLS:C4022763 is_a: HP:0025047 ! Abnormal brain choline level by MRS property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T08:06:29Z [Term] id: HP:0012707 name: Elevated brain lactate level by MRS def: "An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO_CONTRIBUTOR:UToronto_htrang] comment: Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumors. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid. xref: UMLS:C4022762 is_a: HP:0025045 ! Abnormal brain lactate level by MRS property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T08:08:20Z [Term] id: HP:0012708 name: Reduced brain N-acetyl aspartate level by MRS def: "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO_CONTRIBUTOR:UToronto_htrang] comment: N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra. synonym: "MR Spectroscopy: N-acetylaspartate low in brain" EXACT [] synonym: "Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT [] xref: UMLS:C4022761 is_a: HP:0025052 ! Abnormal brain N-acetyl aspartate level by MRS property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T08:09:12Z [Term] id: HP:0012709 name: Abnormal brain choline/creatine ratio by MRS def: "A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO_CONTRIBUTOR:UToronto_htrang] comment: Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization. xref: UMLS:C4022760 is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-22T08:12:15Z [Term] id: HP:0012710 name: Ingrown nail def: "Excessive growth of a nail laterally into the nail fold." [https://orcid.org/0000-0002-0736-9199] synonym: "Ingrown nail" EXACT layperson [] xref: SNOMEDCT_US:400097005 xref: SNOMEDCT_US:400200009 xref: UMLS:C0027343 is_a: HP:0001597 ! Abnormal nail morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T12:09:47Z [Term] id: HP:0012711 name: Delayed ossification of vertebral epiphysis def: "A delay in the process of formation and maturation of the epiphysis of one or more vertebrae." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed maturation of the end part of the vertebral bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022759 xref: UMLS:C4280312 is_a: HP:0100569 ! Abnormally ossified vertebrae property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T12:27:51Z [Term] id: HP:0012712 name: Mild hearing impairment def: "The presence of a mild form of hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Mild hearing impairment" EXACT layperson [] xref: UMLS:C4022758 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T12:33:46Z [Term] id: HP:0012713 name: Moderate hearing impairment def: "The presence of a moderate form of hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Moderate hearing impairment" EXACT layperson [] xref: UMLS:C4022757 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T12:35:59Z [Term] id: HP:0012714 name: Severe hearing impairment def: "A severe form of hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Severe deafness" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Severe hearing impairment" EXACT layperson [] synonym: "Severe hearing loss" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:3561000119106 xref: UMLS:C3874334 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T12:37:33Z [Term] id: HP:0012715 name: Profound hearing impairment def: "A profound (essentially complete) form of hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Profound hearing impairment" EXACT layperson [] xref: UMLS:C4022756 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T12:38:39Z [Term] id: HP:0012716 name: Moderate conductive hearing impairment def: "The presence of a moderate form of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, moderate" EXACT [] xref: UMLS:C4021075 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment is_a: HP:0012713 ! Moderate hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T12:40:05Z [Term] id: HP:0012717 name: Severe conductive hearing impairment def: "A severe form of conductive hearing impairment." [https://orcid.org/0000-0002-0736-9199] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, severe" EXACT [] xref: UMLS:C4021074 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment is_a: HP:0012714 ! Severe hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T12:40:51Z [Term] id: HP:0012718 name: Abnormal gastrointestinal tract morphology def: "Abnormal structure of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of the digestive system" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Morphological abnormality of the gastrointestinal tract" EXACT [] synonym: "Morphological abnormality of the GI tract" EXACT abbreviation [] synonym: "Morphological anomaly of the digestive system" EXACT [] xref: UMLS:C4021073 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0025033 ! Abnormal digestive system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:09:02Z [Term] id: HP:0012719 name: Functional abnormality of the gastrointestinal tract def: "Abnormal functionality of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Functional abnormality of the GI tract" EXACT abbreviation [] synonym: "GI dysfunction" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022755 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0025032 ! Abnormality of digestive system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:10:47Z [Term] id: HP:0012720 name: Neoplasm of the nose alt_id: HP:0100637 def: "Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Nasal neoplasm" EXACT [] synonym: "Nasal tumor" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal tumour" EXACT uk_spelling [] synonym: "Neoplasia of the nose" EXACT [] synonym: "Nose cancer" EXACT layperson [] synonym: "Tumor of the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tumour of the nose" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126669004 xref: UMLS:C0028433 xref: UMLS:C0751394 is_a: HP:0012289 ! Facial neoplasm is_a: HP:0100630 ! Neoplasia of the nasopharynx property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:16:06Z [Term] id: HP:0012721 name: Venous malformation def: "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [https://orcid.org/0000-0002-0736-9199] comment: Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk. synonym: "Venous malformations" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:297222002 xref: UMLS:C2937220 is_a: HP:0002624 ! Abnormal venous morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:20:33Z [Term] id: HP:0012722 name: Heart block def: "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:233916004 xref: UMLS:C0018794 is_a: HP:0031546 ! Cardiac conduction abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:32:14Z [Term] id: HP:0012723 name: Sinoatrial block def: "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria." [https://orcid.org/0000-0002-0736-9199] comment: Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography. xref: Fyler:7014 xref: SNOMEDCT_US:65778007 xref: UMLS:C0037188 is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin is_a: HP:0012722 ! Heart block property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:34:01Z [Term] id: HP:0012724 name: Upper eyelid edema def: "Edema in the region of the upper eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Cellulitis of upper eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Fullness of upper eyelid" EXACT layperson [] synonym: "Puffiness of upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Swelling of upper eyelid" EXACT layperson [] synonym: "Upper eyelid oedema" EXACT uk_spelling [] xref: SNOMEDCT_US:700339006 xref: UMLS:C2025988 xref: UMLS:C3839407 is_a: HP:0100540 ! Palpebral edema property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:38:57Z [Term] id: HP:0012725 name: Cutaneous syndactyly def: "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Cutaneous syndactyly of digits" EXACT [] synonym: "Syndactyly, cutaneous" EXACT [] xref: UMLS:C1861921 is_a: HP:0001159 ! Syndactyly property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T01:40:45Z [Term] id: HP:0012726 name: Episodic hypokalemia def: "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent low potassium" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4022754 is_a: HP:0002900 ! Hypokalemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T02:08:24Z [Term] id: HP:0012727 name: Thoracic aortic aneurysm def: "An abnormal localized widening (dilatation) of the thoracic aorta." [https://orcid.org/0000-0002-0736-9199] comment: Aneurysm is considered a severe form of dilatation. synonym: "Dilatation of the thoracic aorta" BROAD [] xref: SNOMEDCT_US:433068007 xref: UMLS:C0162872 is_a: HP:0004942 ! Aortic aneurysm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T02:22:20Z [Term] id: HP:0012728 name: Fusiform descending thoracic aortic aneurysm def: "A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall" [https://orcid.org/0000-0002-0736-9199] comment: Aneurysm is considered a severe form of dilatation. synonym: "Dilatation of the fusiform descending thoracic aorta" BROAD [] xref: UMLS:C4022753 is_a: HP:0004959 ! Descending thoracic aorta aneurysm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T02:26:12Z [Term] id: HP:0012729 name: Saccular descending thoracic aortic aneurysm def: "An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall" [https://orcid.org/0000-0002-0736-9199] comment: Aneurysm is considered a severe form of dilatation. synonym: "Dilatation of the saccular descending thoracic aorta" BROAD [] xref: UMLS:C4022752 is_a: HP:0004959 ! Descending thoracic aorta aneurysm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T02:27:11Z [Term] id: HP:0012730 name: Aglossia def: "Absence of the tongue owing to a developmental abnormality." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of tongue" EXACT [] synonym: "Failure of development of tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing tongue" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:74788000 xref: UMLS:C0158663 is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T02:30:53Z [Term] id: HP:0012731 name: Ectopic anterior pituitary gland alt_id: HP:0011765 def: "Abnormal anatomic location of the anterior pituitary gland." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022751 is_a: HP:0011747 ! Abnormality of the anterior pituitary property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T02:41:41Z [Term] id: HP:0012732 name: Anorectal anomaly def: "An abnormality of the anus or rectum." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:33225004 xref: UMLS:C3495676 is_a: HP:0012718 ! Abnormal gastrointestinal tract morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T02:48:00Z [Term] id: HP:0012733 name: Macule def: "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Flat, discolored area of skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Flat, discoloured area of skin" EXACT uk_spelling [] xref: SNOMEDCT_US:112629002 xref: UMLS:C0332573 is_a: HP:0011355 ! Localized skin lesion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T02:54:25Z [Term] id: HP:0012734 name: Ketotic hypoglycemia def: "Low blood glucose is accompanied by elevated levels of ketone bodies in the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Ketotic low blood sugar" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:20825002 xref: UMLS:C0271713 is_a: HP:0001943 ! Hypoglycemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T03:00:50Z [Term] id: HP:0012735 name: Cough def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [https://orcid.org/0000-0002-0736-9199, PMID:16428719, PMID:17540788] comment: The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory maneuver, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. synonym: "Cough" EXACT layperson [] synonym: "Coughing" EXACT layperson [] xref: SNOMEDCT_US:263731006 xref: SNOMEDCT_US:272039006 xref: SNOMEDCT_US:49727002 xref: UMLS:C0010200 is_a: HP:0002795 ! Abnormal respiratory system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T03:19:50Z [Term] id: HP:0012736 name: Profound global developmental delay def: "A profound delay in the achievement of motor or mental milestones in the domains of development of a child." [https://orcid.org/0000-0002-6410-0882] synonym: "Global developmental delay, profound" EXACT [] synonym: "Psychomotor retardation, profound" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1855773 xref: UMLS:C3553450 is_a: HP:0001263 ! Global developmental delay property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T03:21:25Z [Term] id: HP:0012737 name: Small intestinal polyp def: "A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:399723004 xref: UMLS:C1302645 is_a: HP:0005266 ! Intestinal polyp is_a: HP:0100833 ! Neoplasm of the small intestine property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T03:50:25Z [Term] id: HP:0012738 name: Agenesis of canine def: "Agenesis of canine tooth." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of canine" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of eye tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absent canines" EXACT layperson [] synonym: "Failure of development of canine" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of eye tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing canine" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing eye tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021072 xref: UMLS:C4280311 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011078 ! Abnormality of canine property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T04:26:04Z [Term] id: HP:0012739 name: Agenesis of the small intestine def: "Failure to develop of the small intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Small bowel agenesis" EXACT [] synonym: "Undeveloped small intestine" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021071 is_a: HP:0002244 ! Abnormal small intestine morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T04:28:53Z [Term] id: HP:0012740 name: Papilloma def: "A tumor of the skin or mucous membrane with finger-like projections." [https://orcid.org/0000-0002-0736-9199] comment: The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts. xref: SNOMEDCT_US:23730008 xref: SNOMEDCT_US:711329002 xref: UMLS:C0030354 is_a: HP:0008069 ! Neoplasm of the skin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T04:36:41Z [Term] id: HP:0012741 name: Unilateral cryptorchidism def: "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cryptorchidism, unilateral" EXACT [] xref: SNOMEDCT_US:268227001 xref: UMLS:C0431664 is_a: HP:0000028 ! Cryptorchidism property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T04:41:57Z [Term] id: HP:0012742 name: Thin fingernail alt_id: HP:0040037 def: "Fingernail that appears thin when viewed on end." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. synonym: "Thin fingernail" EXACT layperson [] xref: UMLS:C4022750 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0001816 ! Thin nail property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T04:47:40Z [Term] id: HP:0012743 name: Abdominal obesity def: "Excessive fat around the stomach and abdomen." [https://orcid.org/0000-0002-0736-9199] synonym: "Abdominal obesity" EXACT layperson [] synonym: "Central obesity" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:248311001 xref: UMLS:C0311277 is_a: HP:0001513 ! Obesity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T05:00:05Z [Term] id: HP:0012744 name: Femoral aplasia def: "Failure of the femur to develop." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent femur" EXACT [] synonym: "Absent thighbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplasia of the femur" EXACT [] xref: SNOMEDCT_US:47276000 xref: UMLS:C0265629 is_a: HP:0005613 ! Aplasia/hypoplasia of the femur property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T05:14:34Z [Term] id: HP:0012745 name: Short palpebral fissure def: "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [PMID:19125427] subset: hposlim_core synonym: "Decreased height of palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:246802000 xref: UMLS:C0423112 is_a: HP:0200007 ! Abnormal size of the palpebral fissures property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T05:27:40Z [Term] id: HP:0012746 name: Thin toenail alt_id: HP:0040038 def: "Toenail that appears thin when viewed on end." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. synonym: "Thin toenail" EXACT layperson [] synonym: "Thin toenails" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C3554113 is_a: HP:0001816 ! Thin nail is_a: HP:0008388 ! Abnormal toenail morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-23T05:34:43Z [Term] id: HP:0012747 name: Abnormal brainstem MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022749 is_a: HP:0002363 ! Abnormal brainstem morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T06:41:13Z [Term] id: HP:0012748 name: Focal T2 hyperintense brainstem lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022748 is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T06:43:06Z [Term] id: HP:0012749 name: Focal T2 hypointense brainstem lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022747 is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T06:43:56Z [Term] id: HP:0012750 name: T2 hypointense brainstem def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022746 is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T06:44:29Z [Term] id: HP:0012751 name: Abnormal basal ganglia MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022745 is_a: HP:0002134 ! Abnormal basal ganglia morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T06:47:28Z [Term] id: HP:0012752 name: Focal T2 hypointense basal ganglia lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022744 is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T06:52:14Z [Term] id: HP:0012753 name: T2 hypointense basal ganglia def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022743 is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T06:52:42Z [Term] id: HP:0012754 name: CNS hypermyelination def: "Increased amount of myelin in the central nervous system." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022742 is_a: HP:0011400 ! Abnormal CNS myelination property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T07:15:56Z [Term] id: HP:0012755 name: Enlarged brainstem def: "Abnormal increase in size of the brainstem." [HPO_CONTRIBUTOR:UToronto_htrang] comment: An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process. xref: UMLS:C4022741 is_a: HP:0002363 ! Abnormal brainstem morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-03-30T07:23:06Z [Term] id: HP:0012756 name: CSF polymorphonuclear pleocytosis def: "An increased polymorphonuclear cell count in the cerebrospinal fluid." [HPO_CONTRIBUTOR:KI_phemming] xref: UMLS:C4022740 is_a: HP:0012229 ! CSF pleocytosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-02T01:07:51Z [Term] id: HP:0012757 name: Abnormal neuron morphology def: "A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions." [HPO_CONTRIBUTOR:KI_phemming, PMID:28723006] synonym: "Abnormal neuron shape" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal neuronal morphology" EXACT [] xref: UMLS:C4022739 is_a: HP:0012639 ! Abnormal nervous system morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-02T05:12:30Z [Term] id: HP:0012758 name: Neurodevelopmental delay def: "Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems." [https://orcid.org/0000-0002-6670-9157, PMID:31783983] comment: Though the definitions of NDD vary broadly in the literature, all are used to signify a delay in one or more developmental domains compared to typical development. synonym: "NDD" EXACT abbreviation [] xref: UMLS:C4022738 is_a: HP:0012759 ! Neurodevelopmental abnormality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-03T12:16:19Z [Term] id: HP:0012759 name: Neurodevelopmental abnormality def: "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." [HPO_CONTRIBUTOR:KI_phemming] comment: This term should be used to describe abnormalities with onset in the developmental period. xref: UMLS:C4022737 is_a: HP:0012638 ! Abnormal nervous system physiology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-03T12:20:28Z [Term] id: HP:0012760 name: Reduced social responsiveness alt_id: HP:0000735 alt_id: HP:5200004 alt_id: HP:5200103 alt_id: HP:5200131 def: "A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication." [PMID:28707360, PMID:34924788] comment: Reciprocity can be assessed by determining the extent to which a child demonstrates activity similar to that of peers or of the examiner (e.g., playing the same game), shows turn-taking behavior, or recognizes the intentions of the other person and contributes to an activity that a peer or the examiner has initiated. In the diagnostic process, it may be difficult to decide whether limitations in social behavior of children with intellectual disability (ID) are due to a co-occurring autism spectrum disorder (ASD) and are often unduly attributed to the ID, a phenomenon also known as diagnostic overshadowing. This term is intended to apply to impaired social reciprocity that is not attributed to ID. synonym: "Impaired social interaction" EXACT [] synonym: "Impaired social interactions" EXACT [] synonym: "Impaired social reciprocity" EXACT [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] synonym: "Poor social interactions" EXACT layperson [] synonym: "Reduced friendship reciprocity" NARROW [] synonym: "Reduced social reciprocity" NARROW [] xref: UMLS:C4022736 is_a: HP:0025732 ! Abnormal social development property_value: terms:contributor https://orcid.org/0000-0001-9112-5148 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-6670-9157 property_value: terms:contributor https://orcid.org/0000-0002-9593-5508 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-03T12:52:44Z [Term] id: HP:0012761 name: Absent mastoid alt_id: HP:0200110 def: "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent mastoids" EXACT [] synonym: "Failure of development of mastoid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Mastoid agenesis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021070 is_a: HP:0000264 ! Abnormal mastoid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-03T01:06:18Z [Term] id: HP:0012762 name: Cerebral white matter atrophy def: "The presence of atrophy (wasting) of the cerebral white matter." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022735 is_a: HP:0002500 ! Abnormal cerebral white matter morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-04-06T10:55:36Z [Term] id: HP:0012763 name: Paroxysmal dyspnea def: "A sudden attack of dyspnea that occurs while the affected person is at rest." [https://orcid.org/0000-0002-0736-9199] comment: Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position. synonym: "Paroxysmal dyspnoea" EXACT uk_spelling [] xref: SNOMEDCT_US:59265000 xref: UMLS:C0013405 is_a: HP:0002094 ! Dyspnea property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-04-06T10:58:39Z [Term] id: HP:0012764 name: Orthopnea def: "A sensation of breathlessness in the recumbent position, relieved by sitting or standing." [HPO_CONTRIBUTOR:UToronto_htrang] xref: SNOMEDCT_US:62744007 xref: UMLS:C0085619 is_a: HP:0002094 ! Dyspnea property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-04-06T11:03:04Z [Term] id: HP:0012765 name: Widened cerebellar subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022734 is_a: HP:0012704 ! Widened subarachnoid space property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-04-06T11:06:46Z [Term] id: HP:0012766 name: Widened cerebral subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022733 is_a: HP:0012704 ! Widened subarachnoid space property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-04-06T11:08:12Z [Term] id: HP:0012767 name: Abnormal placental size def: "A deviation from normal size of the placenta." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022732 is_a: HP:0100767 ! Abnormal placenta morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T12:11:29Z [Term] id: HP:0012768 name: Neonatal asphyxia def: "Respiratory failure in the newborn." [https://orcid.org/0000-0002-0736-9199] synonym: "Asphyxia neonatorum" EXACT [] xref: SNOMEDCT_US:28314004 xref: SNOMEDCT_US:413654009 xref: UMLS:C0004045 is_a: HP:0002643 ! Neonatal respiratory distress property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T12:39:08Z [Term] id: HP:0012769 name: Abnormal arm span def: "A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)" [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal arm span" EXACT layperson [] xref: UMLS:C4022731 is_a: HP:0002817 ! Abnormality of the upper limb property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T03:09:08Z [Term] id: HP:0012770 name: Reduced arm span def: "Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [https://orcid.org/0000-0002-0736-9199] synonym: "Reduced arm span" EXACT layperson [] xref: UMLS:C4022730 is_a: HP:0012769 ! Abnormal arm span property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T03:09:58Z [Term] id: HP:0012771 name: Increased arm span def: "Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased arm span" EXACT layperson [] xref: UMLS:C4022729 is_a: HP:0012769 ! Abnormal arm span property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T03:10:35Z [Term] id: HP:0012772 name: Abnormal upper to lower segment ratio def: "A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022728 is_a: HP:0000002 ! Abnormality of body height property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T03:12:56Z [Term] id: HP:0012773 name: Reduced upper to lower segment ratio def: "Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present." [https://orcid.org/0000-0002-0736-9199] comment: A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced. xref: UMLS:C1836996 is_a: HP:0012772 ! Abnormal upper to lower segment ratio property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T03:14:28Z [Term] id: HP:0012774 name: Increased upper to lower segment ratio def: "Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1844571 is_a: HP:0012772 ! Abnormal upper to lower segment ratio property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T03:16:21Z [Term] id: HP:0012775 name: Stellate iris def: "A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel." [HPO_CONTRIBUTOR:CINEAS_asollie] xref: UMLS:C4022727 is_a: HP:0008034 ! Abnormal iris pigmentation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T03:54:41Z [Term] id: HP:0012776 name: Abnormal ciliary body morphology def: "A structural anomaly of the ciliary body." [HPO_CONTRIBUTOR:CINEAS_asollie] synonym: "Abnormality of the ciliary body" EXACT [] xref: UMLS:C4022726 is_a: HP:0000553 ! Abnormal uvea morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T04:00:10Z [Term] id: HP:0012777 name: Retinal neoplasm def: "A tumor (abnormal growth of tissue) of the retina." [HPO_CONTRIBUTOR:CINEAS_asollie] xref: NCIT:C3262 xref: SNOMEDCT_US:127002001 xref: UMLS:C0524801 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0100012 ! Neoplasm of the eye property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T05:38:24Z [Term] id: HP:0012778 name: Retinal astrocytic hamartoma def: "A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte." [PMID:20435268, PMID:23436975] comment: Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation. xref: UMLS:C4022725 is_a: HP:0009594 ! Retinal hamartoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T05:38:54Z [Term] id: HP:0012779 name: Transient hearing impairment def: "Hearing loss that occurs acutely and resolves completely." [PMID:21776317] comment: Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear. xref: UMLS:C4022724 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T06:09:19Z [Term] id: HP:0012780 name: Neoplasm of the ear def: "A tumor (abnormal growth of tissue) of the ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Ear tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Ear tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:363228008 xref: UMLS:C0013449 is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0031703 ! Abnormal ear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-07T06:11:56Z [Term] id: HP:0012781 name: Mid-frequency hearing loss def: "A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022723 is_a: HP:0000365 ! Hearing impairment property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-08T11:04:07Z [Term] id: HP:0012782 name: Perilobar nephrogenic rest def: "A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe." [https://orcid.org/0000-0002-0736-9199, PMID:20301471] comment: Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia. synonym: "Perilobar nephrogenic rests" EXACT plural_form [] xref: SNOMEDCT_US:405935000 xref: UMLS:C1319017 is_a: HP:0100880 ! Nephrogenic rest property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-20T03:23:16Z [Term] id: HP:0012783 name: Intralobar nephrogenic rest def: "A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls." [https://orcid.org/0000-0002-0736-9199, PMID:20301471] comment: Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS). synonym: "Intralobar nephrogenic rests" EXACT plural_form [] xref: SNOMEDCT_US:405934001 xref: UMLS:C1319016 is_a: HP:0100880 ! Nephrogenic rest property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-20T03:24:35Z [Term] id: HP:0012784 name: Perinephritis def: "Inflammation of the connective and adipose tissues surrounding the kidney." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111404004 xref: UMLS:C0031065 is_a: HP:0000123 ! Nephritis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-20T03:32:07Z [Term] id: HP:0012785 name: Flexion contracture of finger def: "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [https://orcid.org/0000-0002-0736-9199] comment: Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general. synonym: "Flexion deformity of finger" EXACT [] xref: UMLS:C1857304 is_a: HP:0034681 ! Finger joint contracture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-20T04:09:34Z [Term] id: HP:0012786 name: Recurrent cystitis def: "Repeated infections of the urinary bladder." [https://orcid.org/0000-0002-0736-9199, PMID:20639019] comment: One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months. synonym: "Recurrent bladder infections" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:197853008 xref: UMLS:C0581366 is_a: HP:0000010 ! Recurrent urinary tract infections property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-22T09:18:06Z [Term] id: HP:0012787 name: Recurrent pyelonephritis def: "Repeated episodes of pyelonephritis." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0748199 is_a: HP:0000010 ! Recurrent urinary tract infections is_a: HP:0012330 ! Pyelonephritis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-22T09:24:10Z [Term] id: HP:0012788 name: Reticulate pigmentation of oral mucosa def: "A net-like pattern of increased pigmentation of the oral cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Mottled pigmentation of oral mucosa" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Reticulate pigmentation of oral mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1852148 is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-22T09:31:07Z [Term] id: HP:0012789 name: Hypoplasia of the calcaneus def: "Underdevelopment of the heel bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic calcaneus" EXACT [] synonym: "Small heel bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped heel bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3550873 is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones is_a: HP:0008364 ! Abnormality of the calcaneus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-22T09:58:48Z [Term] id: HP:0012790 name: Abnormal intramembranous ossification def: "An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal intramembranous bone ossification" EXACT [] xref: UMLS:C4021069 is_a: HP:0011849 ! Abnormal bone ossification property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-24T10:18:31Z [Term] id: HP:0012791 name: Abnormal humeral ossification def: "An anomaly of the process of formation of bone in the humerus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal maturation of long bone in upper arm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022722 is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0031095 ! Abnormal humerus morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-24T10:23:43Z [Term] id: HP:0012792 name: Absent ossification of thoracic vertebral bodies def: "A lack of bone mineralization of one or more body of thoracic vertebra." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022721 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-24T11:05:14Z [Term] id: HP:0012793 name: Kinked brainstem def: "A kinked appearance of the brainstem, i.e., an exaggerated flexure." [https://orcid.org/0000-0002-0736-9199, PMID:16301726] comment: Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging. synonym: "Kinked brain stem" EXACT [] xref: UMLS:C4021068 is_a: HP:0002363 ! Abnormal brainstem morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-25T02:51:49Z [Term] id: HP:0012794 name: Periventricular white matter hypodensities def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [https://orcid.org/0000-0002-0736-9199, PMID:16239634] comment: See also definition for "Deep white matter hypodensities". These two entities are in contra-distinction to each other. synonym: "Periventricular cerebral white matter hypodensities" EXACT [] xref: UMLS:C4022720 is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-04-25T03:00:01Z [Term] id: HP:0012795 name: Abnormal optic disc morphology def: "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [https://orcid.org/0000-0002-0736-9199] comment: The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. xref: UMLS:C3808249 is_a: HP:0000587 ! Abnormal optic nerve morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-05-24T04:37:10Z [Term] id: HP:0012796 name: Increased cup-to-disc ratio def: "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells." [https://orcid.org/0000-0002-0736-9199, PMID:23557744] comment: A cup to disk ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. synonym: "Elevated cup to disc ratio" EXACT uk_spelling [] synonym: "Elevated cup to disk ratio" EXACT [] synonym: "Increased cup disc ratio" EXACT uk_spelling [] synonym: "Increased cup disk ratio" EXACT [] synonym: "Optic cupping" EXACT [] xref: UMLS:C3805911 is_a: HP:0012795 ! Abnormal optic disc morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-05-24T04:43:52Z [Term] id: HP:0012797 name: Lymphatic vessel neoplasm def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723] synonym: "Lymphatic vessel tumor" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Lymphatic vessel tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:115236002 xref: UMLS:C0206619 is_a: HP:0100742 ! Vascular neoplasm is_a: HP:0100766 ! Abnormal lymphatic vessel morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-05-24T05:00:34Z [Term] id: HP:0012798 name: Pulmonary lymphangiomyomatosis def: "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls." [https://orcid.org/0000-0002-0736-9199] comment: Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis. synonym: "Lymphangioleiomyomatosis" RELATED [] synonym: "Pulmonary myomatosis" EXACT [] xref: SNOMEDCT_US:73017001 xref: UMLS:C0238399 xref: UMLS:C0751674 is_a: HP:0012797 ! Lymphatic vessel neoplasm is_a: HP:0100526 ! Neoplasm of the lung property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-05-24T05:00:46Z [Term] id: HP:0012799 name: Unilateral facial palsy def: "One-sided weakness of the muscles of facial expression and eye closure." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial droop" EXACT layperson [] synonym: "Paralysis of one side of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unilateral facial muscle paralysis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Unilateral facial muscle weakness" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Unilateral facial paralysis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Unilateral facial weakness" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Weakness of one side of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0239516 xref: UMLS:C4022719 is_a: HP:0010628 ! Facial palsy property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T10:35:53Z [Term] id: HP:0012800 name: Accessory cranial suture def: "A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [https://orcid.org/0000-0002-0736-9199, PMID:20496093] comment: The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures. synonym: "Accessory fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Extra cranial suture" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Extra fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumary cranial suture" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Supernumary fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021067 xref: UMLS:C4022927 is_a: HP:0011329 ! Abnormality of cranial sutures property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T10:54:52Z [Term] id: HP:0012801 name: Narrow jaw def: "Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. synonym: "Narrow jaw" EXACT layperson [] synonym: "Narrow lower face" EXACT layperson [] synonym: "Narrow lower jaw" EXACT layperson [] synonym: "Narrow mandible" EXACT [] synonym: "Thin lower face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin lower jaw" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021066 xref: UMLS:C4280310 is_a: HP:0000277 ! Abnormal mandible morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T02:37:13Z [Term] id: HP:0012802 name: Broad jaw def: "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used. synonym: "Broad jaw" EXACT layperson [] synonym: "Broad lower face" EXACT layperson [] synonym: "Broad mandible" EXACT [] synonym: "Wide jaw" EXACT layperson [] synonym: "Wide mandible" EXACT [] xref: UMLS:C3281059 is_a: HP:0000277 ! Abnormal mandible morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T02:41:43Z [Term] id: HP:0012803 name: Anisometropia def: "Inequality of refractive power of the two eyes." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:3289004 xref: UMLS:C0003081 is_a: HP:0000539 ! Abnormality of refraction property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T03:05:21Z [Term] id: HP:0012804 name: Corneal ulceration def: "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma." [https://orcid.org/0000-0002-0736-9199] synonym: "Corneal ulcer" EXACT [] synonym: "Corneal ulcerations" EXACT [] xref: SNOMEDCT_US:91514001 xref: UMLS:C0010043 is_a: HP:0011495 ! Abnormal corneal epithelium morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T03:25:51Z [Term] id: HP:0012805 name: Iris transillumination defect def: "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris." [https://orcid.org/0000-0002-0736-9199, PMID:19920562] comment: Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped. xref: UMLS:C1096099 is_a: HP:0008034 ! Abnormal iris pigmentation property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T03:43:06Z [Term] id: HP:0012806 name: Proboscis def: "A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares. xref: UMLS:C0687082 is_a: HP:0005105 ! Abnormal nasal morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T05:46:42Z [Term] id: HP:0012807 name: High insertion of columella def: "Insertion of the posterior columella superior to the nasal base." [PMID:19152422] comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. subset: hposlim_core synonym: "Ala lower than columella" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Columella, high insertion" EXACT [] xref: UMLS:C4020909 is_a: HP:0009929 ! Abnormal columella morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T05:51:17Z [Term] id: HP:0012808 name: Abnormal nasal base norphology def: "An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] synonym: "Abnormal nasal base" EXACT layperson [] synonym: "Abnormality of base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of base of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of nasal base" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of base of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of nasal base" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of base of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of nasal base" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4022718 is_a: HP:0005105 ! Abnormal nasal morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T05:56:47Z [Term] id: HP:0012809 name: Narrow nasal base def: "Decreased distance between the attachments of the alae nasi to the face." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: There is a marked difference in width of the nasal base depending on ethnic background. synonym: "Decreased width of base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of nasal base" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nasal base" EXACT layperson [] synonym: "Thin base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin nasal base" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4022717 is_a: HP:0012808 ! Abnormal nasal base norphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T05:58:16Z [Term] id: HP:0012810 name: Wide nasal base def: "Increased distance between the attachments of the alae nasi to the face." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: There is a marked difference in width of the nasal base depending on ethnic background. synonym: "Broad base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad nasal base" EXACT layperson [] synonym: "Increased width of base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal base" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide base of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nasal base" EXACT layperson [] xref: UMLS:C1849667 is_a: HP:0012808 ! Abnormal nasal base norphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T05:59:12Z [Term] id: HP:0012811 name: Wide nasal ridge def: "Increased width of the nasal ridge." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose. synonym: "Broad dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Broad nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Broad nasal ridge" RELATED layperson [] synonym: "Increased width of dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal ridge, wide" EXACT [] synonym: "Wide dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nasal ridge" EXACT layperson [] xref: UMLS:C4020718 is_a: HP:0011119 ! Abnormal nasal dorsum morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T10:38:03Z [Term] id: HP:0012812 name: Fullness of paranasal tissue def: "Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: This feature is distinct from Wide nasal ridge and Wide nasal bridge. synonym: "Fullness of tissue around the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of paranasal tissue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of paranasal tissue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Laterally built up nose" EXACT [] synonym: "Paranasal fullness" EXACT [] synonym: "Thick paranasal tissue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thick tissue around the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021065 xref: UMLS:C4280308 xref: UMLS:C4280309 is_a: HP:0005105 ! Abnormal nasal morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-25T10:40:06Z [Term] id: HP:0012813 name: Unilateral breast hypoplasia def: "Underdevelopment of the breast on one side only." [https://orcid.org/0000-0002-0736-9199] synonym: "One underdeveloped breast" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1844722 is_a: HP:0003187 ! Breast hypoplasia property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-26T08:11:58Z [Term] id: HP:0012814 name: Bilateral breast hypoplasia def: "Underdevelopment of the breast on both sides." [https://orcid.org/0000-0002-0736-9199] synonym: "Two underdeveloped breasts" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4022716 is_a: HP:0003187 ! Breast hypoplasia property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-26T08:12:34Z [Term] id: HP:0012815 name: Hypoplastic female external genitalia def: "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped female external genitalia" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4022715 is_a: HP:0000055 ! Abnormal female external genitalia morphology is_a: HP:0003241 ! External genital hypoplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-05-27T08:14:55Z [Term] id: HP:0012816 name: Right ventricular noncompaction cardiomyopathy def: "A predominantly right ventricular variant of isolated noncompaction cardiomyopathy." [https://orcid.org/0000-0002-0736-9199, PMID:23921774] xref: UMLS:C4022714 is_a: HP:0012817 ! Noncompaction cardiomyopathy property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-28T08:35:01Z [Term] id: HP:0012817 name: Noncompaction cardiomyopathy def: "A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber." [https://orcid.org/0000-0002-0736-9199, PMID:15210614, PMID:24282766] comment: Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [PMID:15210614]. synonym: "Noncompaction of the ventricular myocardium" EXACT [] synonym: "Spongiform cardiomyopathy" EXACT [] xref: UMLS:C1839832 is_a: HP:0001638 ! Cardiomyopathy property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-28T08:37:34Z [Term] id: HP:0012818 name: Biventricular noncompaction cardiomyopathy def: "Noncompaction cardiomyopathy that affects both ventricles." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022713 is_a: HP:0012817 ! Noncompaction cardiomyopathy property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-28T08:49:23Z [Term] id: HP:0012819 name: Myocarditis def: "Inflammation of the myocardium." [https://orcid.org/0000-0002-0736-9199, PMID:21304213, PMID:22185868, PMID:22361396] comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. synonym: "Inflammation of heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:50920009 xref: UMLS:C0027059 is_a: HP:0001637 ! Abnormal myocardium morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-28T09:01:32Z [Term] id: HP:0012820 name: Bilateral vocal cord paralysis def: "A loss of the ability to move the vocal fold on both sides." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2146481 is_a: HP:0001605 ! Vocal cord paralysis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-28T09:22:32Z [Term] id: HP:0012821 name: Unilateral vocal cord paresis def: "Decreased strength of the vocal fold on one side." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0751577 is_a: HP:0001604 ! Vocal cord paresis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-28T09:25:11Z [Term] id: HP:0012822 name: Bilateral vocal cord paresis def: "Decreased strength of the vocal fold on both sides." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0751574 is_a: HP:0001604 ! Vocal cord paresis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-05-28T09:25:43Z [Term] id: HP:0012823 name: Clinical modifier alt_id: HP:0000004 def: "This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." [https://orcid.org/0000-0002-0736-9199] comment: Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. synonym: "Phenotypic modifier" EXACT [] xref: UMLS:C4021064 is_a: HP:0000001 ! All property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T06:34:24Z [Term] id: HP:0012824 name: Severity def: "The intensity or degree of a manifestation." [https://orcid.org/0000-0002-0736-9199] comment: Synonymous with PATO:0000049, intensity. synonym: "Intensity" EXACT [] xref: SNOMEDCT_US:103370009 xref: UMLS:C0522510 is_a: HP:0012823 ! Clinical modifier property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T06:39:22Z [Term] id: HP:0012825 name: Mild def: "Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199] comment: PATO:0000394, mild. synonym: "Mild" EXACT layperson [] xref: SNOMEDCT_US:446411000124101 xref: UMLS:C1513302 is_a: HP:0012824 ! Severity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T06:41:33Z [Term] id: HP:0012826 name: Moderate def: "Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199] comment: PATO:0000395, moderate. xref: SNOMEDCT_US:446421000124109 xref: SNOMEDCT_US:6736007 xref: UMLS:C0205081 is_a: HP:0012824 ! Severity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T06:48:12Z [Term] id: HP:0012827 name: Borderline def: "Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199] comment: PATO:0000394, mild. synonym: "Borderline" EXACT layperson [] xref: UMLS:C0205189 is_a: HP:0012824 ! Severity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T06:52:16Z [Term] id: HP:0012828 name: Severe def: "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199] comment: PATO:0000396, severe. synonym: "Severe" EXACT layperson [] xref: SNOMEDCT_US:24484000 xref: UMLS:C0205082 is_a: HP:0012824 ! Severity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:03:17Z [Term] id: HP:0012829 name: Profound def: "Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean." [https://orcid.org/0000-0002-0736-9199] synonym: "Profound" EXACT layperson [] xref: SNOMEDCT_US:795002 xref: UMLS:C0439808 is_a: HP:0012824 ! Severity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:05:46Z [Term] id: HP:0012830 name: Position def: "The anatomical localization of the specified phenotypic abnormality." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4019252 is_a: HP:0012823 ! Clinical modifier property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:18:35Z [Term] id: HP:0012831 name: Laterality def: "The localization with respect to the side of the body of the specified phenotypic abnormality." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:272741003 xref: UMLS:C0332304 is_a: HP:0012830 ! Position property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:19:19Z [Term] id: HP:0012832 name: Bilateral def: "Being present on both sides of the body." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:51440002 xref: UMLS:C0238767 is_a: HP:0012831 ! Laterality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:20:42Z [Term] id: HP:0012833 name: Unilateral def: "Being present on only the left or only the right side of the body." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:66459002 xref: UMLS:C0205092 is_a: HP:0012831 ! Laterality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:21:12Z [Term] id: HP:0012834 name: Right def: "Being located on the right side of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Right-sided" EXACT [] xref: SNOMEDCT_US:264180000 xref: UMLS:C0444532 is_a: HP:0012831 ! Laterality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:21:46Z [Term] id: HP:0012835 name: Left def: "Being located on the left side of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Left-sided" EXACT [] xref: SNOMEDCT_US:263795004 xref: UMLS:C0443246 is_a: HP:0012831 ! Laterality property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:23:17Z [Term] id: HP:0012836 name: Spatial pattern def: "The pattern by which a phenotype affects one or more regions of the body." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022711 is_a: HP:0012830 ! Position property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:25:02Z [Term] id: HP:0012837 name: Generalized def: "Affecting all regions without specificity of distribution." [https://orcid.org/0000-0002-0736-9199] comment: PATO:0002403. synonym: "Generalised" EXACT uk_spelling [] xref: SNOMEDCT_US:60132005 xref: UMLS:C0205246 is_a: HP:0012836 ! Spatial pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:25:58Z [Term] id: HP:0012838 name: Localized def: "Being confined or restricted to a particular location." [https://orcid.org/0000-0002-0736-9199] comment: PATO:0000627. synonym: "Localised" EXACT uk_spelling [] synonym: "Localized" EXACT layperson [] xref: SNOMEDCT_US:255471002 xref: UMLS:C0392752 is_a: HP:0012836 ! Spatial pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:27:48Z [Term] id: HP:0012839 name: Distal def: "Localized away from the central point of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Outermost" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:46053002 xref: UMLS:C0205108 is_a: HP:0012836 ! Spatial pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:29:38Z [Term] id: HP:0012840 name: Proximal def: "Localized close to the central point of the body." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:40415009 xref: UMLS:C0205107 is_a: HP:0012836 ! Spatial pattern property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:30:42Z [Term] id: HP:0012841 name: Retinal vascular tortuosity def: "The presence of an increased number of twists and turns of the retinal blood vessels." [https://orcid.org/0000-0002-0736-9199] synonym: "Tortuous retinal vessels" EXACT [] xref: UMLS:C1860475 is_a: HP:0008046 ! Abnormal retinal vascular morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T07:53:56Z [Term] id: HP:0012842 name: Skin appendage neoplasm def: "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." [NCIT:C4463] synonym: "Skin adnexal neoplasm" EXACT [] synonym: "Skin adnexal tumor" EXACT [] synonym: "Skin adnexal tumour" EXACT uk_spelling [] xref: NCIT:C3262 xref: SNOMEDCT_US:126489007 xref: SNOMEDCT_US:55681005 xref: UMLS:C0345988 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0011138 ! Abnormal skin adnexa morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T08:02:51Z [Term] id: HP:0012843 name: Hair follicle neoplasm def: "An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth." [https://orcid.org/0000-0002-0736-9199, NCIT:C7367] xref: NCIT:C3262 xref: SNOMEDCT_US:44155009 xref: UMLS:C0859920 is_a: HP:0012842 ! Skin appendage neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T08:03:49Z [Term] id: HP:0012844 name: Trichilemmoma def: "A benign tumor originating from the outer root sheath of the hair follicle." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Tricholemmoma" EXACT [] xref: SNOMEDCT_US:274900003 xref: SNOMEDCT_US:46199002 xref: UMLS:C0334263 is_a: HP:0012843 ! Hair follicle neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T08:05:05Z [Term] id: HP:0012845 name: Single trichilemmoma def: "Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022710 is_a: HP:0012844 ! Trichilemmoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T08:06:37Z [Term] id: HP:0012846 name: Multiple trichilemmomata def: "Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle." [https://orcid.org/0000-0002-0736-9199] synonym: "Multiple trichilemmomas" EXACT [] xref: UMLS:C4021063 is_a: HP:0012844 ! Trichilemmoma property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T08:07:30Z [Term] id: HP:0012847 name: Epilepsia partialis continua def: "Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years)." [HPO_CONTRIBUTOR:UToronto_htrang, https://orcid.org/0000-0002-1735-8178, PMID:26336950] comment: The focal motor features may exhibit a Jacksonian march and a post-ictal (Todd's) paresis may be seen in the affected body part. synonym: "Epilepsia partialis continua of Kojevnikov" EXACT [] synonym: "Kojevnikov's epilepsia" EXACT [] synonym: "Kozhevnikov's epilepsia" EXACT [] xref: SNOMEDCT_US:241006 xref: UMLS:C0085543 is_a: HP:0032663 ! Focal motor status epilepticus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-06T08:09:22Z [Term] id: HP:0012848 name: Small intestinal stenosis def: "The narrowing or partial blockage of a portion of the small intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of small intestine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0151924 is_a: HP:0002244 ! Abnormal small intestine morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-07T09:00:19Z [Term] id: HP:0012849 name: Small intestinal bleeding def: "Bleeding from the small intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Small intestinal bleeding" EXACT layperson [] synonym: "Small intestinal haemorrhage" EXACT uk_spelling [] synonym: "Small intestinal hemorrhage" EXACT [] xref: SNOMEDCT_US:70375006 xref: UMLS:C0520561 is_a: HP:0002244 ! Abnormal small intestine morphology is_a: HP:0002584 ! Intestinal bleeding property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-07T09:12:22Z [Term] id: HP:0012850 name: Small intestinal dysmotility def: "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:253768006 xref: UMLS:C0345200 is_a: HP:0002579 ! Gastrointestinal dysmotility property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-07T09:15:02Z [Term] id: HP:0012851 name: Colonic stenosis def: "A narrowing of a segment of colon whereby bowel continuity is maintained." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of the colon" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Stenosis of the colon" EXACT [] xref: SNOMEDCT_US:19132000 xref: SNOMEDCT_US:8543007 xref: UMLS:C0267466 is_a: HP:0002250 ! Abnormal large intestine morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-07T09:22:41Z [Term] id: HP:0012852 name: Hepatic bridging fibrosis def: "Hepatic fibrosis that reaches from a portal area to another portal area." [https://orcid.org/0000-0002-0736-9199, PMID:14568255] xref: UMLS:C4022709 is_a: HP:0001395 ! Hepatic fibrosis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-07T09:27:43Z [Term] id: HP:0012853 name: Scrotal hypospadias def: "Hypospadias with location of the urethral meatus in the scrotum." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:702462000 xref: UMLS:C2197691 is_a: HP:0000047 ! Hypospadias property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-08T10:56:11Z [Term] id: HP:0012854 name: Midshaft hypospadias def: "Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis." [https://orcid.org/0000-0002-0736-9199, PMID:12371222] xref: UMLS:C4022708 is_a: HP:0003244 ! Penile hypospadias property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-08T10:57:24Z [Term] id: HP:0012855 name: Scrotal hyperpigmentation def: "Increased pigmentation (skin color) of the scrotum." [https://orcid.org/0000-0002-0736-9199] comment: This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation. synonym: "Hyperpigmentation of the scrotum" EXACT [] synonym: "Hyperpigmented scrotum" EXACT [] synonym: "Increased pigmentation in scrotum" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021062 is_a: HP:0000045 ! Abnormal scrotum morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-08T11:03:38Z [Term] id: HP:0012856 name: Abnormal scrotal rugation def: "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022707 is_a: HP:0000045 ! Abnormal scrotum morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-08T11:10:00Z [Term] id: HP:0012857 name: Increased scrotal rugation def: "Increased number or density of the folded ridges (wrinkles) of skin of the scrotum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022706 is_a: HP:0012856 ! Abnormal scrotal rugation property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-08T11:12:46Z [Term] id: HP:0012858 name: Decreased scrotal rugation def: "Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022705 is_a: HP:0012856 ! Abnormal scrotal rugation property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-08T11:14:00Z [Term] id: HP:0012859 name: Esophageal leukoplakia def: "A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:23765246] synonym: "Esophageal epidermoid metaplasia" RELATED [] xref: SNOMEDCT_US:89057003 xref: UMLS:C0267095 is_a: HP:0002031 ! Abnormal esophagus morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-08T11:16:53Z [Term] id: HP:0012860 name: Testicular fibrosis def: "Formation of excess connective tissue in the testicle." [https://orcid.org/0000-0002-0736-9199] synonym: "Fibrotic testes" EXACT [] synonym: "Fibrotic testicle" EXACT [] xref: UMLS:C4021061 is_a: HP:0000035 ! Abnormal testis morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T09:29:22Z [Term] id: HP:0012861 name: Ovotestis def: "A gonad that contains both ovarian follicles and testicular tubular elements." [https://orcid.org/0000-0002-0736-9199] comment: An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed. xref: SNOMEDCT_US:18978002 xref: UMLS:C0266361 is_a: HP:0000062 ! Ambiguous genitalia property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T09:48:37Z [Term] id: HP:0012862 name: Abnormal germ cell morphology def: "Any structural anomaly of a reproductive cell." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of a reproductive cell" EXACT [] synonym: "Abnormally shaped germ cell" EXACT [] synonym: "Abnormally shaped reproductive cell" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022704 is_a: HP:0012243 ! Abnormal reproductive system morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:01:49Z [Term] id: HP:0012863 name: Abnormal male germ cell morphology def: "A structural anomaly of a male reproductive cell." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4022703 is_a: HP:0012862 ! Abnormal germ cell morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:05:33Z [Term] id: HP:0012864 name: Abnormal sperm morphology def: "A structural anomaly of sperm." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of sperm" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Teratospermia" EXACT [] synonym: "Teratozoospermia" EXACT [] xref: SNOMEDCT_US:236817003 xref: UMLS:C0403824 is_a: HP:0012863 ! Abnormal male germ cell morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:07:03Z [Term] id: HP:0012865 name: Abnormal sperm head morphology def: "A structural abnormality of the sperm head." [https://orcid.org/0000-0002-0736-9199, PMID:22198630] synonym: "Sperm head anomaly" EXACT [] xref: UMLS:C4022702 is_a: HP:0012864 ! Abnormal sperm morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:48:21Z [Term] id: HP:0012866 name: Abnormal sperm neck morphology def: "A structural abnormality of the sperm neck." [https://orcid.org/0000-0002-0736-9199, PMID:22198630] comment: The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece. synonym: "Sperm neck anomaly" EXACT [] xref: UMLS:C4022701 is_a: HP:0012864 ! Abnormal sperm morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:50:20Z [Term] id: HP:0012867 name: Abnormal sperm mid-piece morphology def: "A structural abnormality of the sperm mid-piece." [https://orcid.org/0000-0002-0736-9199] synonym: "Sperm mid-piece anomaly" EXACT [] xref: UMLS:C4022700 is_a: HP:0012864 ! Abnormal sperm morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:50:37Z [Term] id: HP:0012868 name: Abnormal sperm tail morphology def: "A structural abnormality of the sperm tail." [https://orcid.org/0000-0002-0736-9199, PMID:22198630] comment: The ultrastructure of the mammalian flagellum is highly conserved and is structurally divided into four major parts: the connecting piece, the mid piece, the principal piece, and the end piece. The axoneme extends from the remnant of the centriole attached to the implantation fossa of the nucleus and is the core structure along the length of the sperm tail. Defective sperm flagella are the principal cause of sperm motility disorders. synonym: "Sperm tail anomaly" EXACT [] xref: UMLS:C4022699 is_a: HP:0012864 ! Abnormal sperm morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:50:50Z [Term] id: HP:0012869 name: Acephalic spermatozoa def: "Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head." [https://orcid.org/0000-0002-0736-9199, PMID:10402395] xref: UMLS:C4022698 is_a: HP:0012865 ! Abnormal sperm head morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T10:57:11Z [Term] id: HP:0012870 name: Vanishing testis def: "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [https://orcid.org/0000-0002-0736-9199, PMID:22985611] synonym: "Testicular regression syndrome" RELATED [] synonym: "Vanishing testis" EXACT layperson [] xref: SNOMEDCT_US:53599007 xref: UMLS:C0266427 is_a: HP:0000035 ! Abnormal testis morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:00:13Z [Term] id: HP:0012871 name: Varicocele def: "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum." [https://orcid.org/0000-0002-0736-9199] comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. synonym: "Vaginal varicocele" EXACT [] xref: SNOMEDCT_US:46871008 xref: SNOMEDCT_US:51070004 xref: UMLS:C0042341 is_a: HP:0000045 ! Abnormal scrotum morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:07:41Z [Term] id: HP:0012872 name: Abnormal vas deferens morphology def: "A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct." [https://orcid.org/0000-0002-0736-9199, MP:0002769] xref: UMLS:C4022697 is_a: HP:0000022 ! Abnormal male internal genitalia morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:13:37Z [Term] id: HP:0012873 name: Absent vas deferens def: "Aplasia (congenital absence) of the vas deferens." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent deferent duct" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Absent ductus deferens" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Congenital absence of the vas deferens" EXACT [] xref: SNOMEDCT_US:300506000 xref: SNOMEDCT_US:5286009 xref: SNOMEDCT_US:702610009 xref: UMLS:C0266444 is_a: HP:0012872 ! Abnormal vas deferens morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:14:47Z [Term] id: HP:0012874 name: Abnormal male reproductive system physiology def: "An abnormal functionality of the male genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal male genital system physiology" RELATED [] xref: UMLS:C4020716 is_a: HP:0000080 ! Abnormality of reproductive system physiology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:20:46Z [Term] id: HP:0012875 name: Abnormal ejaculation def: "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:386674000 xref: UMLS:C2937350 is_a: HP:0012874 ! Abnormal male reproductive system physiology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:21:29Z [Term] id: HP:0012876 name: Premature ejaculation def: "The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature ejaculation" EXACT layperson [] xref: SNOMEDCT_US:44001008 xref: UMLS:C0033038 is_a: HP:0012875 ! Abnormal ejaculation property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:24:37Z [Term] id: HP:0012877 name: Retrograde ejaculation def: "The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:50112006 xref: UMLS:C0403673 is_a: HP:0012875 ! Abnormal ejaculation property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:25:24Z [Term] id: HP:0012878 name: Retarded ejaculation def: "Difficulty of a male in achieving orgasm." [https://orcid.org/0000-0002-0736-9199, PMID:24528812] synonym: "Delayed ejaculation" EXACT layperson [] xref: SNOMEDCT_US:15405008 xref: UMLS:C0234047 is_a: HP:0012875 ! Abnormal ejaculation property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:29:28Z [Term] id: HP:0012879 name: Anejaculation def: "Inability to ejaculate." [https://orcid.org/0000-0002-0736-9199, PMID:24528812] synonym: "Ejaculatory incompetence" EXACT [] xref: SNOMEDCT_US:248782001 xref: SNOMEDCT_US:42288005 xref: UMLS:C0278106 is_a: HP:0012875 ! Abnormal ejaculation property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-09T11:33:16Z [Term] id: HP:0012880 name: Abnormal labia minora morphology def: "An anomaly of the labia minora, the folds of skin between the outer labia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the inner vaginal lips" EXACT layperson [] synonym: "Abnormality of the labia minora" EXACT [] xref: UMLS:C4022696 is_a: HP:0000058 ! Abnormal labia morphology creation_date: 2014-06-11T07:44:31Z [Term] id: HP:0012881 name: Abnormal labia majora morphology def: "An anomaly of the outer labia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the labia majora" EXACT [] synonym: "Abnormality of vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022695 is_a: HP:0000058 ! Abnormal labia morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T07:46:41Z [Term] id: HP:0012882 name: Hyperplastic labia majora def: "Overgrowth of the outer labia." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged labia majora" EXACT [] synonym: "Hyperplasia of labia majora" EXACT [] xref: UMLS:C4021060 is_a: HP:0012881 ! Abnormal labia majora morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T07:54:42Z [Term] id: HP:0012883 name: Fallopian tube cyst def: "A fluid filled sac located in the Fallopian tube." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:59401005 xref: UMLS:C0269173 is_a: HP:0011027 ! Abnormal fallopian tube morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T08:00:04Z [Term] id: HP:0012884 name: Fallopian tube torsion def: "A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation." [https://orcid.org/0000-0002-0736-9199, PMID:24251052] comment: Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube. synonym: "Twisted fallopian tube" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:46946009 xref: UMLS:C0269169 is_a: HP:0011027 ! Abnormal fallopian tube morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T08:01:57Z [Term] id: HP:0012885 name: Fallopian tube duplication def: "The presence of a supernumerary Fallopian tube." [https://orcid.org/0000-0002-0736-9199, PMID:23532389] comment: Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion. synonym: "Accessory fallopian tube" EXACT [] xref: SNOMEDCT_US:48672005 xref: UMLS:C0266375 is_a: HP:0011027 ! Abnormal fallopian tube morphology property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T08:05:41Z [Term] id: HP:0012886 name: Hemorrhagic ovarian cyst def: "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst." [https://orcid.org/0000-0002-0736-9199, PMID:12928726] comment: The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy. xref: SNOMEDCT_US:119420007 xref: UMLS:C0473311 is_a: HP:0000138 ! Ovarian cyst property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T09:26:15Z [Term] id: HP:0012887 name: Ovarian serous cystadenoma def: "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue." [https://orcid.org/0000-0002-0736-9199, PMID:23766763] comment: Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. synonym: "Serous ovarian cyst" RELATED [] xref: SNOMEDCT_US:119421006 xref: UMLS:C0346170 xref: UMLS:C4020715 is_a: HP:0000138 ! Ovarian cyst property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T09:32:06Z [Term] id: HP:0012888 name: Abnormal uterine cervix morphology def: "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the uterine cervix" EXACT [] xref: UMLS:C4022694 is_a: HP:0000130 ! Abnormality of the uterus property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T09:40:02Z [Term] id: HP:0012889 name: Cervical endometriosis def: "Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:61640006 xref: UMLS:C0269107 is_a: HP:0012888 ! Abnormal uterine cervix morphology is_a: HP:0030127 ! Endometriosis property_value: terms:creator https://orcid.org/0000-0002-6996-5279 creation_date: 2014-06-11T09:42:02Z [Term] id: HP:0012890 name: Posteriorly placed anus def: "Posterior malposition of the anus." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022693 is_a: HP:0004397 ! Ectopic anus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T10:55:41Z [Term] id: HP:0012891 name: High posterior hairline def: "Hair on the neck extends less inferiorly than usual." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "High hairline at back of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4022692 is_a: HP:0030141 ! Abnormality of the posterior hairline property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T10:57:10Z [Term] id: HP:0012892 name: Facial muscle hypertrophy def: "Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Hyperplasia of facial muscles" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4022691 xref: UMLS:C4280307 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0003712 ! Skeletal muscle hypertrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T10:58:42Z [Term] id: HP:0012893 name: Neck muscle hypertrophy def: "Muscle hypertrophy affecting the muscles of the neck." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Hyperplasia of neck muscles" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of cervical muscles" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of neck muscles" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large neck muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Overgrowth of neck muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4022690 xref: UMLS:C4280306 is_a: HP:0003712 ! Skeletal muscle hypertrophy is_a: HP:0011006 ! Abnormal morphology of the musculature of the neck property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T10:59:17Z [Term] id: HP:0012894 name: Paraspinal muscle hypertrophy def: "Muscle hypertrophy affecting the paraspinal muscles." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022689 is_a: HP:0003712 ! Skeletal muscle hypertrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T10:59:48Z [Term] id: HP:0012895 name: Scapular muscle hypertrophy def: "Muscle hypertrophy affecting the scapular muscles." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022688 is_a: HP:0003712 ! Skeletal muscle hypertrophy property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:00:11Z [Term] id: HP:0012896 name: Abnormal motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways." [https://orcid.org/0000-0002-0736-9199, PMID:10402095] xref: UMLS:C4022687 is_a: HP:0430106 ! Abnormal brain-evoked potentials property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:04:24Z [Term] id: HP:0012897 name: Abnormal upper-limb motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs) in the arm." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Abnormal motor evoked potentials in the upper limb" EXACT [] xref: UMLS:C4021059 is_a: HP:0012896 ! Abnormal motor evoked potentials property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:08:22Z [Term] id: HP:0012898 name: Abnormal lower-limb motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs) in the leg." [HPO_CONTRIBUTOR:UToronto_htrang] synonym: "Abnormal motor evoked potentials in the lower limb" EXACT [] xref: UMLS:C4021058 is_a: HP:0012896 ! Abnormal motor evoked potentials property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:09:22Z [Term] id: HP:0012899 name: Handgrip myotonia def: "Difficulty releasing one's grip associated with prolonged first handgrip relaxation times." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:22987687] synonym: "Grip myotonia" EXACT [] xref: UMLS:C1868623 is_a: HP:0002486 ! Myotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:10:53Z [Term] id: HP:0012900 name: Myotonia of the face def: "Slowed relaxation of muscles in the face." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022686 is_a: HP:0002486 ! Myotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:14:55Z [Term] id: HP:0012901 name: Myotonia of the jaw def: "Slowed relaxation of muscles in the jaw." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022685 is_a: HP:0002486 ! Myotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:18:29Z [Term] id: HP:0012902 name: Myotonia of the lower limb def: "Slowed relaxation of muscles in the leg." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022684 is_a: HP:0002486 ! Myotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:18:59Z [Term] id: HP:0012903 name: Myotonia of the upper limb def: "Slowed relaxation of muscles in the arm." [HPO_CONTRIBUTOR:UToronto_htrang] xref: UMLS:C4022683 is_a: HP:0002486 ! Myotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:19:18Z [Term] id: HP:0012904 name: Cold-sensitive myotonia def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold." [HPO_CONTRIBUTOR:UToronto_htrang, PMID:14617673] xref: UMLS:C4022682 is_a: HP:0002486 ! Myotonia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:20:32Z [Term] id: HP:0012905 name: Euryblepharon def: "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening." [https://orcid.org/0000-0002-0736-9199, PMID:15249382, PMID:15530943, PMID:24719364] comment: The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome. synonym: "Kabuki syndrome eyelids" RELATED [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:400954002 xref: UMLS:C1303001 xref: UMLS:C4280305 is_a: HP:0000492 ! Abnormal eyelid morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2014-06-23T11:43:42Z [Term] id: HP:0020006 name: Ciliary body coloboma def: "A coloboma of the ciliary body." [] xref: UMLS:C4072884 is_a: HP:0000589 ! Coloboma [Term] id: HP:0020034 name: Diffuse def: "A spatial pattern that is spread out, i.e., not localized." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:19648000 xref: UMLS:C0205219 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0020035 name: Lower limb dysmetria def: "A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg." [https://orcid.org/0000-0002-2353-596X, PMID:25573808] is_a: HP:0002406 ! Limb dysmetria property_value: dc:date "2017-10-13T12:24:09Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020036 name: Upper limb dysmetria def: "A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm." [https://orcid.org/0000-0002-2353-596X, PMID:20301629] is_a: HP:0002406 ! Limb dysmetria property_value: dc:date "2017-10-13T12:28:26Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020037 name: Astasia def: "A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength." [https://orcid.org/0000-0002-2353-596X, PMID:27821973] is_a: HP:0100022 ! Abnormality of movement property_value: dc:date "2017-10-13T12:38:30Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020038 name: Vertebrobasilar dolichoectasia def: "Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm." [PMID:24765483] comment: The basilar artery arises from the confluence of the two vertebral arteries. is_a: HP:0030321 ! Abnormal vertebral artery morphology property_value: dc:date "2017-10-13T12:54:00Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020041 name: Double elevator palsy def: "A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia." [https://orcid.org/0000-0003-0986-4123, PMID:23479532] is_a: HP:0025068 ! Incomitant strabismus property_value: dc:date "2017-12-20T17:09:14Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020042 name: Double depressor palsy def: "An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0025068 ! Incomitant strabismus property_value: dc:date "2017-12-20T17:12:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020043 name: Vertical incomitant strabismus def: "A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0025068 ! Incomitant strabismus property_value: dc:date "2017-12-20T17:14:25Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020044 name: Horizontal incomitant strabismus comment: A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts horizontally. is_a: HP:0025068 ! Incomitant strabismus property_value: dc:date "2017-12-20T17:14:39Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020045 name: Esodeviation def: "A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally." [https://orcid.org/0000-0003-0986-4123] synonym: "Convergent squint" EXACT [] synonym: "Convergent strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: dc:date "2017-12-20T17:20:06Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020046 name: Accommodative esotropia def: "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex." [https://orcid.org/0000-0003-0986-4123] comment: Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. is_a: HP:0000565 ! Esotropia property_value: dc:date "2017-12-20T17:25:43Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020047 name: Abnormal myeloid cell morphology def: "Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage." [] is_a: HP:0005561 ! Abnormal bone marrow cell morphology property_value: dc:date "2017-12-22T14:32:10Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020048 name: Reduced bone-marrow pro-B cell count def: "A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19." [] is_a: HP:0005561 ! Abnormal bone marrow cell morphology property_value: dc:date "2017-12-22T14:57:04Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020049 name: Exodeviation def: "A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally." [https://orcid.org/0000-0003-0986-4123] synonym: "Divergent strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: dc:date "2017-12-22T15:01:01Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020050 name: Anti-granulocyte-macrophage colony stimulating factor antibody positivity def: "The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor." [PMID:23509356] comment: Anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies have been shown to cause acquired pulmonary alveolar proteinosis (PAP)(1, 2), a chronic lung disease characterized by abnormalities of surfactant metabolism. synonym: "Anti-GM-CSF antibody positivity" EXACT abbreviation [] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: dc:date "2017-12-22T15:05:06Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020054 name: Abnormal erythrocyte physiology def: "Any functional abnormality of erythrocytes (red-blood cells)." [] is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: dc:date "2018-09-28T23:39:07Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020058 name: Abnormal red blood cell count def: "Any deviation from the normal number of red blood cells per volume in the circulation." [] synonym: "Abnormal RBC count" EXACT abbreviation [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: dc:date "2018-09-28T23:44:47Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020059 name: Increased red blood cell count def: "An abnormal elevation above the normal number of red blood cells per volume in the circulation." [] synonym: "Increased RBC count" EXACT abbreviation [] is_a: HP:0020058 ! Abnormal red blood cell count property_value: dc:date "2018-09-28T23:45:36Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020060 name: Decreased red blood cell count def: "An abnormal reduction below the normal number of red blood cells per volume in the circulation." [] synonym: "Decreased RBC count" EXACT abbreviation [] is_a: HP:0020058 ! Abnormal red blood cell count property_value: dc:date "2018-09-28T23:46:01Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020061 name: Abnormal hemoglobin concentration def: "Any deviation from the normal concentration of hemoglobin in the blood." [] synonym: "Abnormal haemoglobin concentration" EXACT uk_spelling [] synonym: "Abnormal Hb concentration" EXACT abbreviation [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: dc:date "2018-09-28T23:52:35Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020062 name: Decreased hemoglobin concentration def: "An abnormal reduction below normal hemoglobin concentration in the circulation." [] synonym: "Decreased haemoglobin concentration" EXACT uk_spelling [] synonym: "Decreased Hb concentration" EXACT abbreviation [] is_a: HP:0020061 ! Abnormal hemoglobin concentration property_value: dc:date "2018-09-28T23:53:11Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020063 name: obsolete Increased hemoglobin concentration property_value: dc:date "2018-09-28T23:53:24Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0001900 [Term] id: HP:0020064 name: Abnormal total eosinophil count def: "Abnormal increase or decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group." [] is_a: HP:0001879 ! Abnormal eosinophil morphology is_a: HP:0032309 ! Abnormal granulocyte count property_value: dc:date "2018-10-17T13:48:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020071 name: Viremia def: "The presence of virus in the blood." [] is_a: HP:0031863 ! Bloodstream infectious agent property_value: dc:date "2019-01-21T22:33:34Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020072 name: Persistent EBV viremia def: "Persistent presence of Epstein-Barr virus in the blood." [] comment: Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission. is_a: HP:0032248 ! Persistent viremia property_value: dc:date "2019-01-21T22:36:17Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020073 name: Hypopigmented macule def: "A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation." [PMID:24023426] comment: A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin. is_a: HP:0012733 ! Macule property_value: dc:date "2019-01-25T13:41:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020074 name: Crystalluria def: "The presence of crystals in the urine." [PMID:26509782] comment: Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir). is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: dc:date "2019-02-25T13:07:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020075 name: Leucine crystalluria def: "The presence of leucine crystals in the urine." [PMID:8671802] comment: Leucine crystals are oily-looking spheres with concentric striations, which form pseudo-Maltese crosses under polarized light. Leucine, like tyrosine, which appears as thin needles often aggregated inbundles or rosettes, is typical of patients with hepatic failure. is_a: HP:0020074 ! Crystalluria property_value: dc:date "2019-02-25T13:13:14Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020076 name: Wrist ganglion def: "A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule." [PMID:17488856, PMID:19468907] comment: Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency. synonym: "Ganglion cyst of the wrist" EXACT [] is_a: HP:0025798 ! Abnormal wrist morphology property_value: dc:date "2019-02-25T13:18:34Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020077 name: Carnitinuria def: "An elevated level of carnitine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:11196742] synonym: "Carnitine high in urine" EXACT [] is_a: HP:0031980 ! Abnormal urine carboxylic acid level property_value: dc:date "2019-02-25T13:29:26Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020078 name: Alaninuria def: "An increased level of alanine in the urine." [https://orcid.org/0000-0002-8169-9049] synonym: "Increased urinary alanine" EXACT [] is_a: HP:0033100 ! Increased proteinogenic amino acid level in urine property_value: dc:date "2019-02-25T13:31:43Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020079 name: Beta-alaninuria alt_id: HP:6000276 def: "The amount of beta-alanine in the urine, when normalized for urine concentration, is above the upper limit of normal." [PMID:7936305] comment: Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position. synonym: "Beta-alanine high in urine" EXACT [] synonym: "Elevated urinary beta-alanine level" EXACT [] synonym: "Hyper-beta-alaninuria" EXACT [] is_a: HP:0033098 ! Increased urinary non-proteinogenic amino acid level property_value: dc:date "2019-02-25T13:34:18Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020080 name: Erythrocyte inclusion bodies def: "Nuclear or cytoplasmic aggregates of substances in red blood cells." [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: dc:date "2019-02-25T13:41:04Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020081 name: Pappenheimer bodies def: "A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain)." [PMID:15054821, PMID:21250106] is_a: HP:0020080 ! Erythrocyte inclusion bodies property_value: dc:date "2019-02-25T13:56:37Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020082 name: Heinz bodies def: "A type of erythrocyte inclusion composed of denatured hemoglobin." [PMID:21250106, PMID:24713708] is_a: HP:0020080 ! Erythrocyte inclusion bodies property_value: dc:date "2019-02-25T14:00:35Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020083 name: Furuncle def: "An infection of a hair follicle that extends subcutaneously, forming an abscess." [] synonym: "Boil" EXACT layperson [] is_a: HP:0025084 ! Folliculitis property_value: dc:date "2019-04-08T16:59:51Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020084 name: Carbuncle def: "A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle." [PMID:32119346] is_a: HP:0025084 ! Folliculitis property_value: dc:date "2019-04-08T17:02:42Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020085 name: Infection following live vaccination def: "An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens." [] is_a: HP:0032101 ! Unusual infection property_value: dc:date "2019-04-08T17:21:47Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020086 name: BCGitis def: "Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination." [PMID:24722620] comment: The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. is_a: HP:0020085 ! Infection following live vaccination property_value: dc:date "2019-04-08T17:25:28Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020087 name: BCGosis alt_id: HP:0031698 def: "Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis." [PMID:21412596, PMID:24722620] comment: The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. synonym: "BCGiosis" EXACT [] synonym: "Disseminated Bacillus Calmette-Guerin infection" EXACT [] is_a: HP:0020085 ! Infection following live vaccination property_value: dc:date "2019-04-08T17:27:13Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020088 name: Post-vaccination measles def: "Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases." [PMID:29152266] synonym: "Vaccine associated measles" EXACT [] is_a: HP:0020085 ! Infection following live vaccination property_value: dc:date "2019-04-08T17:31:45Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020089 name: Post-vaccination rubella def: "Infection with the rubella virus of the live-attenuated vaccine." [] is_a: HP:0020085 ! Infection following live vaccination property_value: dc:date "2019-04-08T17:36:47Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020090 name: Post-vaccination polio def: "Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise." [PMID:25285130] is_a: HP:0020085 ! Infection following live vaccination property_value: dc:date "2019-04-08T17:38:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020091 name: Post-vaccination rotavirus infection def: "Infection with live attenuated rotavirus vaccine following vaccination." [PMID:21477676] is_a: HP:0020085 ! Infection following live vaccination property_value: dc:date "2019-04-08T17:42:33Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020093 name: Recurrent deep organ abscess formation def: "Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ." [] is_a: HP:0032169 ! Severe infection property_value: dc:date "2019-04-08T17:44:58Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020095 name: Prolonged need of intravenous antibiotic therapy def: "Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time." [] is_a: HP:0032169 ! Severe infection property_value: dc:date "2019-04-08T17:48:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020096 name: Recurrent streptococcal infections def: "Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections." [] is_a: HP:0002718 ! Recurrent bacterial infections property_value: dc:date "2019-04-08T17:59:21Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020097 name: Infection due to encapsulated bacteria def: "An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines." [PMID:30515161] comment: Encapsulated bacteria have been responsible for the majority of bacteremia and meningitis in children for many decades. In children aged over 3 months, Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus), and Haemophilus influenzae have been the predominant pathogens, with H. influenzae being a less significant problem since the introduction of vaccines against type b organisms. Disease is most common in young children less than 5 years of age and older adults aged over 65 years. In neonates and young infants, Group B Streptococcus (GBS) is the major cause of bacteremia and meningitis. These organisms have the shared characteristic of being surrounded by a polysaccharide capsule, which is a key virulence factor because it helps the bacteria evade complement deposition and subsequent phagocytosis and killing. These polysaccharides have also been the basis for successful vaccines against all except GBS, because immune responses against the polysaccharide capsule are the primary mechanism of protection for the human host. Each species can be encapsulated by polysaccharides of different biochemical compositions, which has been used for categorization into capsular groups or serotypes. is_a: HP:0032260 ! Opportunistic bacterial infection property_value: dc:date "2019-04-08T18:54:35Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020098 name: obsolete Herpes encephalitis property_value: dc:date "2019-04-08T18:58:22Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0012302 [Term] id: HP:0020099 name: Severe norovirus infection def: "An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals." [PMID:25567225] is_a: HP:0032169 ! Severe infection property_value: dc:date "2019-04-08T19:02:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020100 name: Unusual fungal infection def: "An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent." [] is_a: HP:0032101 ! Unusual infection property_value: dc:date "2019-04-08T19:05:28Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020101 name: Invasive fungal infection def: "Fungal infection characterized by invasion of host tissues." [PMID:24718393] comment: Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, hematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. is_a: HP:0020100 ! Unusual fungal infection property_value: dc:date "2019-04-08T19:11:15Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020102 name: Pneumocystis jirovecii pneumonia alt_id: HP:0034286 def: "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing." [PMID:26281787] comment: Pneumocystis pneumonia (PCP) is caused by Pneumocystis jirovecii, a ubiquitous fungus. The taxonomy of the organism has been changed; Pneumocystis carinii now refers only to the Pneumocystis that infects rats, and P. jirovecii refers to the distinct species that infects humans. However, the abbreviation PCP is still the preferred acronym to designate the clinical syndrome of Pneumocystis pneumonia, although PJP is commonly used. synonym: "Pneumocystis carinii pneumonia" EXACT [] is_a: HP:0032255 ! Opportunistic fungal infection property_value: dc:date "2019-04-08T19:15:19Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020103 name: Invasive pulmonary aspergillosis def: "Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis." [PMID:25656673] comment: Invasive pulmonary aspergillosis usually occurs in severely immunocompromised patients. Classic at-risk patients are those with prolonged neutropenia, either due to chemotherapy or immunosuppressive therapy, post hematopoietic stem cell transplant (SCT), or solid organ transplant. is_a: HP:0020101 ! Invasive fungal infection property_value: dc:date "2019-04-08T19:17:44Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020104 name: Unusual protozoan infection def: "An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent." [] is_a: HP:0032101 ! Unusual infection property_value: dc:date "2019-04-08T19:21:25Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020105 name: Severe toxoplasmosis def: "Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs)." [PMID:25762774] is_a: HP:0020104 ! Unusual protozoan infection property_value: dc:date "2019-04-08T19:22:59Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020106 name: Severe giardiasis def: "An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide." [PMID:11148005, PMID:17042927] comment: Several reports of giardiasis in immunocompromised patients exist. is_a: HP:0020104 ! Unusual protozoan infection property_value: dc:date "2019-04-08T19:25:29Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020107 name: Unusual helminthic infection def: "An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth)." [PMID:18382743] is_a: HP:0032101 ! Unusual infection property_value: dc:date "2019-04-08T19:28:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020108 name: Unusual parasitic infection def: "An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite." [PMID:16148530] is_a: HP:0032101 ! Unusual infection property_value: dc:date "2019-04-08T19:30:24Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020110 name: Bone fracture def: "A partial or complete breakage of the continuity of a bone." [] is_a: HP:0011842 ! Abnormal skeletal morphology property_value: dc:date "2019-04-08T20:45:29Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020111 name: Abnormal regulatory T cell proportion def: "Abnormal increase or decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group." [PMID:19751267] comment: Identification of Treg cells remains problematic, because accumulating evidence suggests that all the presently-used Treg markers (CD25, CTLA-4, GITR, LAG-3, CD127 and Foxp3) represent general T-cell activation markers, rather than being truly Treg-specific. synonym: "Abnormal CD4+CD25+ regulatory T cell proportion" EXACT [] synonym: "Abnormal CD4+CD25+ Treg cell proportion" EXACT [] synonym: "Abnormal Treg proportion" EXACT [] is_a: HP:0031392 ! Abnormal CD4+ T cell subset proportion property_value: dc:date "2019-04-08T20:48:36Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020112 name: Increased proportion of regulatory T cells def: "Abnormal increase of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group." [] synonym: "Elevated proportion of CD4+CD25+ regulatory T cells" EXACT [] synonym: "Increased proportion of CD4+CD25+ regulatory T cells" EXACT [] synonym: "Increased proportion of CD4+CD25+ Treg cells" EXACT [] is_a: HP:0020111 ! Abnormal regulatory T cell proportion property_value: dc:date "2019-04-08T20:50:53Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020113 name: Decreased proportion of regulatory T cells def: "Abnormal decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group." [] synonym: "Decreased proportion of CD4+CD25+ regulatory T cells" EXACT [] synonym: "Decreased proportion of CD4+CD25+ Treg cells" EXACT [] synonym: "Reduced proportion of CD4+CD25+ regulatory T cells" EXACT [] is_a: HP:0020111 ! Abnormal regulatory T cell proportion property_value: dc:date "2019-04-08T20:51:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020114 name: Persistent human papillomavirus infection def: "Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease." [PMID:24643184, PMID:26239127] synonym: "Chronic HPV infection" EXACT [] synonym: "Persistent HPV infection" EXACT [] is_a: HP:0032169 ! Severe infection property_value: dc:date "2019-04-08T20:54:37Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0020117 name: Hypoplastic dermoepidermal hemidesmosomes def: "Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin." [PMID:11851880, PMID:25487405] comment: With this feature, the intracellular attachment plates may be thinner than usualler or separated into small, triangular segments. The thickness of the hemidesmosomes may be less than usual. is_a: HP:0032449 ! Abnormal dermoepidermal hemidesmosome morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-02T14:49:12Z [Term] id: HP:0020118 name: Radial artery aplasia def: "Congenital absence of the radial artery." [PMID:24650137] is_a: HP:0031640 ! Abnormal radial artery morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-02T16:30:41Z [Term] id: HP:0020119 name: Abnormal retinal nerve fiber layer morphology def: "A structural abnormality of the retinal nerve fiber layer" [] comment: The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disc. These axons become myelinated after entering the optic nerve. synonym: "Abnormal retinal nerve fibre layer morphology" EXACT uk_spelling [] is_a: HP:0000479 ! Abnormal retinal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-02T16:34:14Z [Term] id: HP:0020120 name: Retinal nerve fiber edema def: "Swelling (edema) of the retinal nerve fibers." [] synonym: "Retinal nerve fibre oedema" EXACT uk_spelling [] is_a: HP:0020119 ! Abnormal retinal nerve fiber layer morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-02T16:39:25Z [Term] id: HP:0020121 name: Conception by assisted reproductive technology def: "A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation." [PMID:28844405] comment: Assisted reproductive technology is used primarily for infertility treatments to achieve pregnancy. is_a: HP:0032443 ! Past medical history property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-02T16:46:09Z [Term] id: HP:0020122 name: Bite cells def: "Red blood cells that appear to have parts of them bitten away." [ISBN:978-0-07174889-6] comment: This feature can be observed with acute hemolytic anemia (AHA) related to glucose-6-phosphate dehydrogenase (G6PD) deficiency. In this disorder, AHA can be triggered by ingestion of fave beans, infections, and certain medications. The blood film can show poikilocytosis with bite cells. synonym: "Blister cells" EXACT [] synonym: "Degmacytes" EXACT [] is_a: HP:0004447 ! Poikilocytosis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-02T20:24:07Z [Term] id: HP:0020123 name: Tympanosclerosis def: "A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear." [PMID:27656306] comment: Plaques related to tympanosclerosis do not form spherical lesions and are typically within the drum substance itself which is normally easily discerned when using the binocular view of a microscope rather than the monocular, two-dimensional view of a hand-held otoscope. Such plaques can alter compliance of the tympanic membrane and can lead to sclerotic fixation of the ossicles, both of which can result in a mild conductive hearing loss. Histologically, lesions vary slightly according to their stage of development showing differing amounts of increased fibroblasts, abnormal fibers, areas of hyalinization, and areas of calcification into an osseous-like matrix. Most patients require no treatment. synonym: "Tympanic calcification" EXACT [] is_a: HP:0008609 ! Abnormal middle ear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-02T20:36:06Z [Term] id: HP:0020125 name: Spontaneous conjunctival filtering bleb def: "Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma." [PMID:24768550, PMID:8749053] synonym: "Conjunctival avascular cysts (filtering blebs)" EXACT plural_form [] synonym: "Spontaneous filtering bleb" EXACT [] is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-02T22:49:55Z [Term] id: HP:0020126 name: Prostate mass def: "A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction." [] comment: The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. is_a: HP:0008775 ! Abnormal prostate morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-03T17:10:08Z [Term] id: HP:0020127 name: Periarticular soft-tissue mass def: "A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction." [] comment: The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. is_a: HP:0001367 ! Abnormal joint morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-03T17:35:14Z [Term] id: HP:0020128 name: Aplasia of the olfactory tract def: "Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell." [https://orcid.org/0000-0001-5208-3432, PMID:27863011] is_a: HP:0100547 ! Abnormal forebrain morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T15:49:35Z [Term] id: HP:0020129 name: Abnormal urine protein level def: "Any deviation of the concentration of one or more proteins in the urine." [] is_a: HP:0033354 ! Abnormal urine metabolite level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T16:29:22Z [Term] id: HP:0020130 name: Increased urinary neutrophil gelatinase-associated lipocalin def: "An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter)." [PMID:18725016] comment: An increased urinary NGAL concentration may indicate tubular injury. synonym: "Increased urinary NGAL" EXACT abbreviation [] is_a: HP:0020129 ! Abnormal urine protein level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T16:30:20Z [Term] id: HP:0020131 name: Abnormal tubular basement membrane morphology def: "Abnormal structure of the basement membrane of the renal tubulus." [] is_a: HP:0000091 ! Abnormal renal tubule morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T16:55:32Z [Term] id: HP:0020132 name: Thickening of the tubular basement membrane def: "Increase in thickness of the basement membrane of the tubulus of the kidney." [PMID:20142905] is_a: HP:0020131 ! Abnormal tubular basement membrane morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T16:56:26Z [Term] id: HP:0020133 name: Podocyte hypertrophy def: "Increased visceral epithelial cell size, with or without cytoplasmic protein droplets." [PMID:15610239, PMID:32866505] comment: Podocytes, also called visceral glomerular epithelial cells, are terminally differentiated cells that line the outer surface of the glomerular basement membrane. Podocytes prevent protein leakage into the urinary space, and also provide important tensile strength to the glomerular capillaries, by opposing the hydrostatic pressure from within. In contrast to glomerular endothelial and mesangial cells, podocytes do not typically proliferate. Studies have shown that following podocyte loss, the inability of podocytes to proliferate contributes to the development of glomerulosclerosis. Consequently, in order to cover the denuded glomerular basement membrane, podocytes increase in size due to hypertrophy. Although this is initially compensatory, podocyte hypertrophy is likely maladaptive, and contributes to glomerulosclerosis. synonym: "Glomerular visceral epithelial cell hypertrophy" EXACT [] synonym: "Hypertrophy of visceral epithelial cells" EXACT [] is_a: HP:0031265 ! Abnormal glomerular visceral epithelial cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:07:56Z [Term] id: HP:0020134 name: Increased urine neutrophil count def: "Abnormally increased count of neutrophils in urine." [https://orcid.org/0000-0001-7941-2961] is_a: HP:0012085 ! Pyuria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:23:53Z [Term] id: HP:0020135 name: Myofibromatosis def: "A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance." [NCIT:C3742, PMID:29364448] is_a: HP:0031459 ! Soft tissue neoplasm property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:28:59Z [Term] id: HP:0020136 name: Anticardiolipin IgG antibody positivity def: "The presence of circulating IgG autoantibodies to cardiolipin." [PMID:30256771] is_a: HP:0003613 ! Antiphospholipid antibody positivity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:39:35Z [Term] id: HP:0020137 name: Anticardiolipin IgM antibody positivity def: "The presence of circulating IgM autoantibodies to cardiolipin." [PMID:30256771] is_a: HP:0003613 ! Antiphospholipid antibody positivity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:41:28Z [Term] id: HP:0020138 name: History of recent animal bite def: "Medical history of a recent bite injury due to an animal." [PMID:26179017] comment: The spectrum of injury is broad and infectious complications, generally due to unusual pathogens, are common. is_a: HP:4000144 ! Recent past medical history property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:44:09Z [Term] id: HP:0020139 name: History of recent insect bite def: "Medical history of a recent bite injury due to an insect." [PMID:24364549] is_a: HP:4000144 ! Recent past medical history property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:46:38Z [Term] id: HP:0020140 name: History of recent tick bite def: "Medical history of a recent bite injury due to a tick." [PMID:24364549] is_a: HP:0020139 ! History of recent insect bite property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:48:14Z [Term] id: HP:0020141 name: Blood pressure substantially higher in legs than arms def: "An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm." [PMID:12101189] comment: This feature may be seen, for instance, in Takayasu arteritis. synonym: "Blood pressure substantially higher in lower than upper extremities" EXACT [] synonym: "Blood pressure substantially lower in arms than legs" EXACT [] synonym: "Blood pressure substantially lower in upper than lower extremities" EXACT [] is_a: HP:0030972 ! Abnormal systemic blood pressure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:52:19Z [Term] id: HP:0020142 name: Blood pressure substantially higher in arms than legs def: "An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm." [PMID:28377475] comment: This feature can be observed in aortic coarctation. synonym: "Blood pressure substantially higher in upper than lower extremities" EXACT [] synonym: "Increased arm-leg blood pressure gradient" EXACT [] is_a: HP:0030972 ! Abnormal systemic blood pressure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T17:56:44Z [Term] id: HP:0020143 name: Tracheal duplication cyst def: "A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium." [PMID:25313910] comment: Tracheal duplication cyst is a rare congenital malformation presenting in childhood with stridor or dysphagia from a mass effect on the trachea or esophagus. The features of the tracheal duplication cyst are similar to those of bronchogenic duplication cyst and laryngeal duplication cyst, but with histopathological features of the trachea. The trachea is known to originate from the respiratory diverticulum, a ventral outpouching of foregut lumen. The postulated embryological basis of a tracheal duplication cyst may be similar to that of the anomalous bronchi and is a result of abnormal budding of the bronchial tree during the fourth to sixth weeks of embryogenesis. is_a: HP:0002778 ! Abnormal tracheal morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T19:01:46Z [Term] id: HP:0020144 name: Calcium phosphate crystalluria def: "The presence of calcium phosphate crystals in the urine." [PMID:26509782, PMID:3599249, PMID:8671802] comment: Calcium phosphate crystals are pleiomorphic, often appearing as birefringent stars or needles, occurring in isolation or in clumps. Plates are granular and non-birefringent. is_a: HP:0020074 ! Crystalluria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T19:05:11Z [Term] id: HP:0020145 name: Calcium oxalate crystalluria def: "The presence of calcium oxalate crystals in the urine." [PMID:26509782, PMID:3599249, PMID:8671802] comment: There are two types of calcium oxalate crystals, the dihydrate (or Wedellite) and the monohydrate (orWhewellite), which are frequently found together in the same sample. The former have mostly a typical bipyramidal shape, while the latter are more pleiomorphic, although the ovoid shape is the most frequent. Bipyramidal crystals are birefringent only when large or in aggregates, but even then birefringence is usually not intense. The monohydrates, however, are always strongly birefringent. Calcium oxalate may be found in normal subjects, often as a consequence of ingestion of foods like chocolate, beet-root, peanuts, rhubarb, spinach, etc., in stoneformers, in patients with hyperoxaluria, or after ethylene glycol poisoning. is_a: HP:0020074 ! Crystalluria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T19:06:11Z [Term] id: HP:0020146 name: Calcium carbonate crystalluria def: "The presence of calcium carbonate crystals in the urine." [PMID:26509782, PMID:8671802] comment: Calcium carbonate crystals usually appear as clumped granules. is_a: HP:0020074 ! Crystalluria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T19:11:59Z [Term] id: HP:0020147 name: 2-Methylbutyryl glycinuria def: "Increased concentration of 2-methylbutyryl glycine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:17883863] comment: This phenotype can be related to a defect in the degradation pathway of L- isoleucine leading to increased urinary excretion of 2-methylbutyryl glycine. is_a: HP:0033097 ! Increased urine proteinogenic amino acid derivative level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T19:25:20Z [Term] id: HP:0020148 name: Increased circulating mead acid level def: "An abnormally elevated concentration od mead acid in the blood circulation." [PMID:25440954] comment: Elevated serum Mead acid as a proportion of total fatty acids is an indirect marker of a deficiency of essential fatty acids. is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T19:33:18Z [Term] id: HP:0020149 name: Elevated circulating succinate def: "An increase concentration of succinate in the blood circulation." [PMID:29434314] is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T19:49:33Z [Term] id: HP:0020150 name: Elevated urinary uromodulin level def: "The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal." [PMID:28781372] comment: Uromodulin (also known as Tamm Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. Levels of uromodulin in the urine and in the blood, where it is present in lower amounts, are valuable biomarkers for tubular mass and renal function. synonym: "Elevated urinary Tamm-Horsfall protein concentration" EXACT [] is_a: HP:0034885 ! Abnormal urinary uromodulin level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T19:52:14Z [Term] id: HP:0020151 name: Anti-dsDNA antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA." [PMID:15804704] comment: Anti-DNA antibodies can be observed in persons with systemic lupus erythematosus (SLE), being a formal classification criterion. synonym: "Anti-double-stranded DNA antibody positivity" EXACT [] is_a: HP:0003493 ! Antinuclear antibody positivity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T20:03:40Z [Term] id: HP:0020152 name: Distal joint hypermobility def: "Lack of stability of a distal joint (e.g., finger)." [] synonym: "Distal joint laxity" EXACT [] is_a: HP:0430046 ! Small joint hypermobilty property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T20:21:18Z [Term] id: HP:0020153 name: Positive blood 1,3 beta glucan test def: "Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis." [PMID:27475024] is_a: HP:0410172 ! Blood xenobiotic property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T21:01:45Z [Term] id: HP:0020154 name: Nevus comedonicus def: "A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones." [PMID:23888253] comment: Nevus comedonicus has a predilection for the face and neck area. Nevus comedonicus presents with grouped, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material. Their appearance resembles black dots but the material cannot be easily removed mechanically in contrast to acne comedones. Nevus comedonicus lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid. is_a: HP:0010816 ! Epidermal nevus property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-05T21:03:08Z [Term] id: HP:0020155 name: Abnormal oocyte morphology def: "An abnormal structure of the female germ cell (egg cell)." [] is_a: HP:0025461 ! Abnormal cell morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T18:45:54Z [Term] id: HP:0020156 name: Abnormal zona pellucida morphology def: "Abnormal structure of the oocyte extracellular matrix region known as the zona pellucida." [PMID:26329136] comment: During mammalian fertilization, sperm need to reach the cumulus-oocyte complex, get through the hyaluronic matrix of the cumulus and penetrate the zona pellucida (ZP) in order to fuse with the egg. is_a: HP:0020155 ! Abnormal oocyte morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T18:49:23Z [Term] id: HP:0020157 name: Thin zona pellucida def: "Reduced thickness of the zona pellucida." [PMID:7657763] is_a: HP:0020156 ! Abnormal zona pellucida morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T18:52:13Z [Term] id: HP:0020158 name: Increased circulating adrenic acid concentration def: "An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation." [https://orcid.org/0000-0002-8169-9049, PMID:28456640] synonym: "Increased circulating docosatetraenoate level" EXACT [] is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T19:34:06Z [Term] id: HP:0020159 name: Reduced response to gonadotropin-releasing hormone stimulation test def: "Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels." [PMID:22723321] synonym: "Reduce response to GnRH stimulation test" EXACT abbreviation [] is_a: HP:0031279 ! Abnormal response to gonadotropin-releasing hormone stimulation test property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T19:39:36Z [Term] id: HP:0020160 name: GM1-ganglioside accumulation def: "Cellular accumulation of GM1 gangliosides." [PMID:9063740] comment: At the neuropathological level, severe infantile GM1-gangliosidosis patients exhibit distended neurons that contain typical lamellar inclusions referred to as membranous cytoplasmic bodies which are also found in other lipidoses. Although neurons are the primary target for storage, astrocytes may also appear abnormally vacuolated. Neuronal pathology in late onset forms is delayed and tends to be more severe in deeper structures of the brain than in the cortex. Inclusions in the liver are of fibrillar nature and are different from the lamellar bodies in neurons. Abnormal accumulation of GM1-ganglioside and, to a much lesser extent, its asialo-derivative GA1, in the brain is the most prominent biochemical feature. is_a: HP:0004345 ! Ganglioside accumulation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T19:48:26Z [Term] id: HP:0020161 name: Branch retinal artery occlusion def: "Blockage of a branch of the retinal artery. This can cause loss of a section of visual field." [https://orcid.org/0000-0003-0986-4123, PMID:19376586] is_a: HP:0025326 ! Retinal arterial occlusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T20:57:42Z [Term] id: HP:0020163 name: Cilioretinal artery occlusion def: "Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers." [https://orcid.org/0000-0003-0986-4123, PMID:28058169] is_a: HP:0025326 ! Retinal arterial occlusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:01:57Z [Term] id: HP:0020164 name: Ophthalmic artery occlusion def: "A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs." [https://orcid.org/0000-0003-0986-4123, PMID:30148234] is_a: HP:0025326 ! Retinal arterial occlusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:05:14Z [Term] id: HP:0020165 name: Branch retinal vein occlusion def: "Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels." [https://orcid.org/0000-0003-0986-4123, PMID:30570991] is_a: HP:0012636 ! Retinal vein occlusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:08:14Z [Term] id: HP:0020166 name: Central retinal vein occlusion def: "Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis." [PMID:30252241] is_a: HP:0012636 ! Retinal vein occlusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:10:20Z [Term] id: HP:0020167 name: Hemiretinal vein occlusion def: "A variant of central retinal vein occlusions that involves the superior or inferior half of the retina." [https://orcid.org/0000-0003-0986-4123, PMID:22069354] is_a: HP:0012636 ! Retinal vein occlusion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:12:32Z [Term] id: HP:0020169 name: Abnormal drug response def: "An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy." [https://orcid.org/0000-0002-7440-8864, PMID:16948615] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:39:59Z [Term] id: HP:0020170 name: Increased blood drug concentration def: "High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime." [https://orcid.org/0000-0002-7440-8864, PMID:26075072] synonym: "Elevated blood drug concentration" EXACT [] synonym: "Elevated plasma drug concentration" EXACT [] synonym: "Elevated serum drug concentrations" EXACT [] synonym: "Increased plasma drug concentration" EXACT [] synonym: "Increased serum drug concentration" EXACT [] is_a: HP:0020169 ! Abnormal drug response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:41:53Z [Term] id: HP:0020171 name: Decreased blood drug concentration def: "Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime." [https://orcid.org/0000-0002-7440-8864, PMID:26075072] synonym: "Decreased plasma drug concentration" EXACT [] synonym: "Decreased serum drug concentration" EXACT [] synonym: "Reduced blood drug concentration" EXACT [] synonym: "Reduced plasma drug concentration" EXACT [] synonym: "Reduced serum drug concentrations" EXACT [] is_a: HP:0020169 ! Abnormal drug response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:44:04Z [Term] id: HP:0020172 name: Adverse drug response def: "An unpleasant or harmful reaction resulting from treatment with a drug." [https://orcid.org/0000-0002-7440-8864, PMID:11072960] synonym: "Adverse drug reaction" EXACT [] synonym: "Drug-induced reaction" EXACT [] synonym: "Drug-induced response" EXACT [] synonym: "Toxic drug response" EXACT [] is_a: HP:0020169 ! Abnormal drug response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:45:45Z [Term] id: HP:0020173 name: Reduced drug efficacy def: "Decreased response to a drug intervention in comparison to the expected response." [https://orcid.org/0000-0002-7440-8864, PMID:26178435] synonym: "Decreased drug efficacy" EXACT [] is_a: HP:0020169 ! Abnormal drug response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:46:54Z [Term] id: HP:0020174 name: Refractory drug response def: "Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course." [https://orcid.org/0000-0002-7440-8864, PMID:29188449] synonym: "Drug resistance" EXACT [] is_a: HP:0020169 ! Abnormal drug response property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T21:47:57Z [Term] id: HP:0020175 name: Reduced circulating cholinesterase activity def: "Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal." [https://orcid.org/0000-0002-8169-9049, PMID:29853783] comment: Serum cholinesterase (butyrylcholinesterase (BChE)) is an enzyme that hydrolyzes acetylcholine. BChE is synthetized in the liver and has conventionally been used as a liver function test. synonym: "Reduced cholinesterase level" EXACT [] is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T22:04:04Z [Term] id: HP:0020176 name: Cholesterol crystalluria def: "The presence of cholesterol crystals in the urine." [PMID:8671802] comment: Cholesterol crystals are transparent plates with well-defined edges and corners, which polarize light inconstantly. They are not found in normal subjects, and characteristically occur in patients with lipiduria secondary to nephrotic syndrome. is_a: HP:0020074 ! Crystalluria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T22:11:11Z [Term] id: HP:0020177 name: Abnormal CD8-positive TEMRA T cell proportion def: "An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative." [] synonym: "Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated" EXACT [] is_a: HP:0410380 ! Abnormal CD8+ memory T cell proportion property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T22:18:57Z [Term] id: HP:0020178 name: Abnormal dendritic cell count def: "A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative)." [CL:0000451, PMID:15795906] comment: Dendritic cells (DC), the professional antigen-pre-senting cells that prime specific immune responses,comprise a very small percentage of circulating whiteblood cells. is_a: HP:0011893 ! Abnormal leukocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-06T22:25:02Z [Term] id: HP:0020179 name: Abnormal circulating haptoglobin concentration def: "A deviation from the normal concentration of haptoglobin in the blood circulation." [PMID:24809098] comment: Haptoglobin is primarily produced in the liver and is functionally important for binding free hemoglobin fromlysed red cells in vivo, preventing its toxic effects. synonym: "Abnormal haptoglobin level" EXACT [] is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-11T20:28:25Z [Term] id: HP:0020180 name: Elevated haptoglobin level def: "An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation." [PMID:24809098] is_a: HP:0020179 ! Abnormal circulating haptoglobin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-11T20:30:03Z [Term] id: HP:0020181 name: Reduced haptoglobin level def: "An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state." [PMID:24809098] is_a: HP:0020179 ! Abnormal circulating haptoglobin concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-11T20:36:13Z [Term] id: HP:0020182 name: Abnormal circulating A-type atrial natriuretic peptide concentration def: "A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [HPO_CONTRIBUTOR:RGD_SJWang, PMID:28552863] synonym: "Abnormal A-type atrial natriuretic peptide level" EXACT [] is_a: HP:6000692 ! Abnormal circulating atrial natriuretic peptide pro-hormone concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-24T16:39:04Z [Term] id: HP:0020183 name: Increased circulating A-type natriuretic peptide concentration def: "A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [HPO_CONTRIBUTOR:RGD_SJWang, PMID:28552863] synonym: "Increased circulating A-type natriuretic peptide level" EXACT [] is_a: HP:0020182 ! Abnormal circulating A-type atrial natriuretic peptide concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-24T16:40:06Z [Term] id: HP:0020184 name: Decreased circulating A-type natriuretic peptide concentration def: "A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [HPO_CONTRIBUTOR:RGD_SJWang, PMID:28552863] synonym: "Decreased circulating A-type natriuretic peptide level" EXACT [] is_a: HP:0020182 ! Abnormal circulating A-type atrial natriuretic peptide concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-07-24T16:42:47Z [Term] id: HP:0020185 name: Superior cerebellar dysplasia def: "Abnormal morphological development of the superior part of the cerebellum." [] is_a: HP:0007033 ! Cerebellar dysplasia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-03T12:21:50Z [Term] id: HP:0020186 name: Multilobulated spleen def: "The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen." [PMID:23710135] comment: Sometimes a splenic lobule may extend medially anterior to the upper pole of the left kidney and less often posterior to the upper pole of the left kidney. Although these lobules are not of any clinical importance, close relation of the splenic lobule to the upper pole of the left kidney may cause misinterpretations as a mass originating from the kidney by the radiologists. synonym: "Multi-lobulated spleen" EXACT [] is_a: HP:0025408 ! Abnormal spleen morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-03T12:36:55Z [Term] id: HP:0020187 name: Thick pachygyria def: "Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age." [PMID:28440899] synonym: "Pachygyria with cortical thickness > 10 mm" EXACT [] synonym: "Pachygyria with cortical thickness above 10 mm" EXACT [] is_a: HP:0001302 ! Pachygyria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-03T12:56:36Z [Term] id: HP:0020188 name: Anterior predominant pachygyria with 5-10 mm cortical thickness def: "Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [http://www.wikidata.org/entity/Q90573458, PMID:28440899] is_a: HP:0020192 ! Pachygyria with 5-10 mm cortical thickness property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-03T12:58:34Z [Term] id: HP:0020189 name: Posterior predominant thick cortex pachygyria def: "Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [http://www.wikidata.org/entity/Q90573458, PMID:28440899] synonym: "Occipital predomimant classic pachygyria" EXACT [] synonym: "Pachygyria with cortical thickness over 10 mm posterior predominant" EXACT [] is_a: HP:0020187 ! Thick pachygyria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-03T13:01:16Z [Term] id: HP:0020190 name: Perisylvian predominant thick cortex pachygyria def: "Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [http://www.wikidata.org/entity/Q90573458, PMID:28440899] synonym: "Pachygyria with cortical thickness > 10 mm perisylvian predominant" EXACT [] is_a: HP:0020187 ! Thick pachygyria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-03T13:03:33Z [Term] id: HP:0020191 name: Anterior predominant thick cortex pachygyria def: "Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes." [http://www.wikidata.org/entity/Q90573458] synonym: "Pachygyria with cortical thickness > 10 mm anterior predominant" EXACT [] is_a: HP:0020187 ! Thick pachygyria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-03T13:06:53Z [Term] id: HP:0020192 name: Pachygyria with 5-10 mm cortical thickness def: "Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age." [http://www.wikidata.org/entity/Q90573458, PMID:28440899] is_a: HP:0001302 ! Pachygyria property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-03T13:36:14Z [Term] id: HP:0020193 name: Prolonged reptilase time def: "An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds." [PMID:23546720] comment: Reptilase time may be increased with a deficiency of fibronogen. Unlike the thrombin time, this assay is not affected by the presence of heparin, hirudin, or direct thrombin inhibitors in a blood sample. is_a: HP:0001928 ! Abnormality of coagulation property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-05T13:57:09Z [Term] id: HP:0020194 name: IgA heavy chain paraproteinemia def: "An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:25125965] synonym: "Alpha heavy chain disease" RELATED [] is_a: HP:0031049 ! Heavy-chain paraproteinemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-05T14:01:38Z [Term] id: HP:0020195 name: IgG heavy chain paraproteinemia def: "An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:22301495] synonym: "Gamma heavy-chain disease" RELATED [] is_a: HP:0031049 ! Heavy-chain paraproteinemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-05T14:04:32Z [Term] id: HP:0020196 name: IgM heavy chain paraproteinemia def: "An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:17403946] is_a: HP:0031049 ! Heavy-chain paraproteinemia property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-05T14:05:43Z [Term] id: HP:0020197 name: Increased circulating arachidonic acid concentration def: "An increased circulation of arachidonic acid in the blood circulation." [https://orcid.org/0000-0002-8169-9049, PMID:30034875] synonym: "Increased circulating arachidonate level" EXACT [] synonym: "Increased circulating arachidonic acid level" EXACT [] is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-05T14:12:41Z [Term] id: HP:0020198 name: Abnormal circulating 18-hydroxycorticosterone level def: "Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation." [PMID:2669615] is_a: HP:0012112 ! Abnormal circulating corticosterone level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-05T14:20:11Z [Term] id: HP:0020199 name: Decreased circulating 18-hydroxycortisone level def: "A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation." [] is_a: HP:0020198 ! Abnormal circulating 18-hydroxycorticosterone level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-05T14:21:53Z [Term] id: HP:0020200 name: Increased circulating 18-hydroxycortisone level def: "An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation." [PMID:22238407] is_a: HP:0020198 ! Abnormal circulating 18-hydroxycorticosterone level property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-09-05T14:22:21Z [Term] id: HP:0020201 name: Abnormal sarcomere morphology def: "Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks." [] is_a: HP:0004303 ! Abnormal muscle fiber morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-12-23T15:56:20Z [Term] id: HP:0020202 name: Abnormal Z disk morphology def: "Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached." [PMID:22028589] comment: Z-discs (Z-disk, Z-line, Z-band) delineate the lateral borders of sarcomeres and are the smallest functional units in striated muscle. The core of a Z-disc consists of actin filaments coming from adjacent sarcomeres which are crosslinked by alpha-actinin molecules. Z-discs, which are difficult to detect in conventional light microscopy, appear in the longitudinal view of electron microscopy as electron dense bands with varying sizes, ranging from 30 to 50 nm in fast muscle and 100 t0 140 nm in slow muscle and cardiac myocytes. is_a: HP:0020201 ! Abnormal sarcomere morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-12-23T15:57:40Z [Term] id: HP:0020203 name: Z-band streaming def: "Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change." [PMID:1180479, PMID:22028589] is_a: HP:0020202 ! Abnormal Z disk morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-12-23T15:58:23Z [Term] id: HP:0020204 name: Tubulointerstitial bacterial infiltration def: "Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains." [https://orcid.org/0000-0003-2356-950X] comment: Tubulointerstitial bacteria can be ascending or vascuolcentric/blood-born. This finding can be associated with neutrophil rich infiltrates. synonym: "Renal tubulointerstitial bacterial organisms" EXACT [] is_a: HP:0032635 ! Tubulointerstitial microganismal infiltration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-12-23T16:29:36Z [Term] id: HP:0020205 name: Tubulointerstitial fungal infiltration def: "Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains." [https://orcid.org/0000-0003-2356-950X] comment: Tubulointerstitial fungi be ascending or vascuolcentric/blood-born. This finding can be associated with necrotizing tubulointerstitial lesions. synonym: "Renal tubulointerstitial fungal organisms" EXACT [] is_a: HP:0032635 ! Tubulointerstitial microganismal infiltration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-12-23T16:33:20Z [Term] id: HP:0020206 name: Simple ear def: "The pinna has fewer folds and grooves than usual." [PMID:15523657] is_a: HP:0000377 ! Abnormal pinna morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2019-12-23T20:41:28Z [Term] id: HP:0020207 name: Reflex seizure def: "Seizures precipitated by exogenous stimuli." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] comment: Included in 2001 ILAE Proposed Classification of Seizures. Seizures precipitated by fever, head injury, or alcohol withdrawal or anti-epileptic medication withdrawal are not provoked seizures. is_a: HP:0001250 ! Seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:36:35Z [Term] id: HP:0020208 name: Eating-induced seizure def: "A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:39:28Z [Term] id: HP:0020209 name: Hot water-induced seizure def: "A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:40:34Z [Term] id: HP:0020210 name: Praxis-induced seizure def: "A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making." [https://orcid.org/0000-0002-1735-8178, PMID:11422340, PMID:24512781] is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:41:45Z [Term] id: HP:0020211 name: Proprioceptive-induced seizure def: "A seizure precipitated by movement or a change in posture." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:46:03Z [Term] id: HP:0020212 name: Reading-induced seizure def: "A seizure precipitated by reading." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] comment: These are typically manifest by myoclonic movements of the jaw or throat, increasing in frequency and potentially culminating in a bilateral tonic-clonic seizure if reading continues. is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:47:03Z [Term] id: HP:0020213 name: Somatosensory-induced seizure def: "A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:48:34Z [Term] id: HP:0020214 name: Startle-induced seizure def: "Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] comment: Seizures are stereotyped and typically unilateral or bilateral tonic in nature. is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:51:07Z [Term] id: HP:0020215 name: Thinking-induced seizure def: "Seizures induced by thinking and decision-making." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] comment: These have been reported occurring in response to higher nonverbal mental activity such as playing chess or card games, performing mathematical calculation, drawing complex figures, manipulating spatial information, and typing. synonym: "Cognition induced seizure" EXACT [] is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:53:17Z [Term] id: HP:0020216 name: Visually-induced seizure def: "Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect." [https://orcid.org/0000-0002-1735-8178, PMID:11422340] synonym: "Photosensitive seizure" EXACT [] is_a: HP:0020207 ! Reflex seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T13:55:09Z [Term] id: HP:0020217 name: Focal aware motor seizure def: "A type of focal motor seizure in which awareness is retained throughout the seizure." [https://orcid.org/0000-0002-1735-8178, PMID:28276060, PMID:28276064] synonym: "Focal motor aware seizure" EXACT [] is_a: HP:0002349 ! Focal aware seizure is_a: HP:0011153 ! Focal motor seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T14:10:19Z [Term] id: HP:0020218 name: Focal aware atonic seizure def: "A type of focal atonic seizure during which awareness is fully retained throughout." [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] is_a: HP:0020217 ! Focal aware motor seizure is_a: HP:0020220 ! Focal atonic seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T14:12:12Z [Term] id: HP:0020219 name: Motor seizure def: "A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement." [https://orcid.org/0000-0002-1735-8178, PMID:28276060] comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. is_a: HP:0001250 ! Seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T14:20:36Z [Term] id: HP:0020220 name: Focal atonic seizure def: "A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature." [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] synonym: "Localised atonic seizure" EXACT [] synonym: "Localised hypotonic seizure" EXACT [] synonym: "Localized atonic seizure" EXACT [] synonym: "Localized hypotonic seizure" EXACT [] synonym: "Partial atonic seizure" EXACT [] synonym: "Partial hypotonic seizure" EXACT [] synonym: "Segmental atonic seizure" EXACT [] synonym: "Segmental hypotonic seizure" EXACT [] is_a: HP:0010819 ! Atonic seizure is_a: HP:0011153 ! Focal motor seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T14:54:22Z [Term] id: HP:0020221 name: Clonic seizure def: "A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [https://orcid.org/0000-0002-1735-8178, PMID:11580774] comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding clonic seizures when the onset is not known. is_a: HP:0020219 ! Motor seizure property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2020-02-24T15:50:52Z [Term] id: HP:0020222 name: Hypohomocysteinemia def: "A decreased concentration of homocysteine in the blood." [PMID:29018201] synonym: "Lower blood homocysteine" EXACT [] is_a: HP:0010919 ! Abnormal circulating homocysteine concentration property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2022-10-04T17:59:43Z [Term] id: HP:0020223 name: Dermal sinus tract def: "A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region." [PMID:31484633] comment: The dermal sinus tracks in from the skin and may end in the soft tissues, epidural space, or intradurally, where it is commonly associated with (generally benign) intradural inclusion tumors (including dermoid, epidermoid, or teratoma), thickened fatty filum, tethered cord, or diastematomyelia (split cord syndrome). Dermal sinus tracts are different from innocuous coccygeal dimples, which are located lower within the gluteal cleft and are not associated with cutaneous stigmata; completely 'classic' dimples do not require further workup or follow-up. See Figure 1 of PMID:31484633. is_a: HP:0034238 ! Closed neural tube defect property_value: terms:creator https://orcid.org/0000-0002-0736-9199 creation_date: 2022-10-04T18:12:37Z [Term] id: HP:0020224 name: Mammary duct ectasia def: "A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass." [PMID:32491597] is_a: HP:0031093 ! Abnormal breast morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-09-16T17:00:10Z" xsd:dateTime [Term] id: HP:0020225 name: Breast abscess def: "A circumscribed area of pus or necrotic debris in the breast." [] is_a: HP:0025615 ! Abscess is_a: HP:0031093 ! Abnormal breast morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-09-16T17:01:56Z" xsd:dateTime [Term] id: HP:0020226 name: Nipple tenderness def: "Pain or discomfort produced by touching the nipple." [] is_a: HP:0012531 ! Pain property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-09-16T17:06:09Z" xsd:dateTime [Term] id: HP:0020227 name: Floating gallbladder def: "An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery," [PMID:20529542] is_a: HP:0012437 ! Abnormal gallbladder morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-09-16T17:09:59Z" xsd:dateTime [Term] id: HP:0020228 name: Biospecimen phenotypic feature def: "A phenotypic abnormality obvserved in a biospecimen such as a biopsy or an extirpated tumor or tissue." [] is_a: HP:0000001 ! All property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T16:31:31Z" xsd:dateTime [Term] id: HP:0020229 name: Abnormal lymph-node biospecimen def: "Any abnormal phenotypic feature observed in a biospecimen derived from a lymph node, generally obtained by lymph node biopsy (removal of lymph node tissue for microscopic examination)." [PMID:17067938] comment: The lymph nodes are organized lymphoid organs that contain lymphocytes within a fine reticular stroma. The structures within a lymph node include the capsule, subcapsular sinus, cortex (B cell zone with follicles and germinal centers), paracortex (T cell zone), medullary sinuses, medullary cords and hilus. is_a: HP:0020228 ! Biospecimen phenotypic feature property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T16:45:57Z" xsd:dateTime [Term] id: HP:0020230 name: Abnormal lymph-node tissue architecture def: "Any phenotypic abnormality of the architecture of the tissue of a lymph node." [] comment: Each tissue is composed of many different cell types that assemble into organized patterns. Tissue architecture is defined by the cellular and extracellular compartments that cooperate with each other through division of labor. is_a: HP:0020229 ! Abnormal lymph-node biospecimen property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T16:51:38Z" xsd:dateTime [Term] id: HP:0020231 name: Abnormal lymph-node cellular finding def: "Any phenotypic abnormality within cells located in a lymph node." [] is_a: HP:0020229 ! Abnormal lymph-node biospecimen property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T16:53:04Z" xsd:dateTime [Term] id: HP:0020233 name: Abnormal lymph-node cellular antigen expression def: "Abnormal expression of an antigen (marker) by cells located in a lymph node." [] is_a: HP:0020229 ! Abnormal lymph-node biospecimen property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T16:56:09Z" xsd:dateTime [Term] id: HP:0020234 name: Altered lymph-node tissue architecture def: "An alteration that affects multiple components of the architecture of a lymph node." [] synonym: "Distorted lymph node architecture" EXACT [] is_a: HP:0020230 ! Abnormal lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T16:56:56Z" xsd:dateTime [Term] id: HP:0020235 name: Effaced lymph-node architecture def: "Effacement of architecture typically refers to a cellular infiltrate destroying the normal follicular architecture of a lymph node. This effacement may result in sheets of cells that do not form clear architecture (seen in many lymphomas) or may lead to replacement of the normal architecture by atypical architecture, for example effacement of normal lymph node architecture (including normal follicles and patent lymph node sinuses) by many abnormal follicles in follicular lymphoma." [] is_a: HP:0020234 ! Altered lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:09:27Z" xsd:dateTime [Term] id: HP:0020236 name: Vaguely nodular lymph-node architecture def: "In contrast to normal lymph node architecture or that of follicular lymphoma, where follicles are typically distinct and readily identifiable on H&E stained biopsy sections, the cells within an atypical lymph node may show what appear to groups of cells forming vague nodules but not forming clear follicles." [] comment: This finding, if not an artifact of poor tissue processing, favors lymphoma but may be seen in reactive states. is_a: HP:0020234 ! Altered lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:10:19Z" xsd:dateTime [Term] id: HP:0020237 name: Lymph-node capsular invasion by lymphocytes def: "Migration of substantial numbers of lymphocytes into the capsule of a lymph node." [] comment: Lymph node capsules are formed by fibrous tissue encapsulating the lymph node, and typically have few or no lymphocytes within the capsule itself. is_a: HP:0020230 ! Abnormal lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:22:55Z" xsd:dateTime [Term] id: HP:0020238 name: Lymph-node extracapsular extension by lymph-node lymphocytes def: "Migration of lymphocytes into the soft tissues surrounding the lymph node." [] comment: Lymph node capsules are formed by fibrous tissue encapsulating the lymph node, and typically the lymphocytes within a lymph node do not extravasate outside of the capsule into soft tissues surrounding the lymph node. is_a: HP:0020230 ! Abnormal lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:23:08Z" xsd:dateTime [Term] id: HP:0020239 name: Increased lymph-node epithelioid histiocyte count def: "Number of epithelioid histiocytes (histiocytes are tissue-resident macrophages) located within a lymph node above the upper limit of normal." [] is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:28:51Z" xsd:dateTime [Term] id: HP:0020240 name: Scattered lymph node individual epithelioid histiocytes def: "Many individual (not clustered) epithelioid histiocytes throughout at least part of a lymph node." [] comment: Histiocytes are tissue-resident macrophages with a moderate amount of cytoplasm that can occasionally show more abundant cytoplasm and appear similar to epithelial cells. These epithelioid histiocytes may be scattered and/or clustered together within lymph nodes under certain conditions, but are generally not prominent in benign non-reactive lymph nodes. is_a: HP:0020239 ! Increased lymph-node epithelioid histiocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:29:25Z" xsd:dateTime [Term] id: HP:0020241 name: Clustered lymph node epithelioid histiocytes def: "Formation of clusters (group of cells positioned near each other) of epithelioid histiocytes within a lymph node." [] comment: Histiocytes are tissue-resident macrophages with a moderate amount of cytoplasm that can occasionally show more abundant cytoplasm and appear similar to epithelial cells. These epithelioid histiocytes may be scattered and/or clustered together within lymph nodes under certain conditions, but are generally not prominent in benign non-reactive lymph nodes. is_a: HP:0020239 ! Increased lymph-node epithelioid histiocyte count property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:29:50Z" xsd:dateTime [Term] id: HP:0020242 name: Abnormal lymph-node follicle architecture def: "Any phenotypic abnormality of the architecture of follicles of a lymph node." [PMID:17067937] comment: A lymph node follicle is a loosely arranged structure with an outer mantle of small T lymphocytes and a germinal center composed of B lymphocytes, follicular dendritic cells, and macrophages. synonym: "Abnormal follicular lymph-node architecture" EXACT [] is_a: HP:0020230 ! Abnormal lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:30:31Z" xsd:dateTime [Term] id: HP:0020243 name: Floral-pattern lymph node follicles def: "Atypical lymph node follicles that have mantle zone cells invaginating/infiltrating into the follicle centers, which is said to confer a flower-like appearance." [] synonym: "Floral follicular lymph node architecture" EXACT [] synonym: "Floral growth pattern" EXACT [] is_a: HP:0020242 ! Abnormal lymph-node follicle architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:33:40Z" xsd:dateTime [Term] id: HP:0020244 name: Colonization of follicles by lymphoma cells def: "In contrast to follicular lymphoma, which typically is a lymphoma that forms follicles or potentially completely replaces normal follicles, some lymphomas (most commonly marginal zone lymphoma) can infiltrate normal follicles so both normal lymphocytes and the infiltrating lymphoma cells are present. This is called colonization of follicles by the lymphoma cells." [] synonym: "Follicular colonisation" EXACT uk_spelling [] synonym: "Follicular colonization" EXACT [] is_a: HP:0020242 ! Abnormal lymph-node follicle architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:36:23Z" xsd:dateTime [Term] id: HP:0020245 name: Crowded lymph-node follicles def: "Reduction in the average distance between adjacent lymph node follicles." [] comment: Follicles in lymph nodes are usually spaced apart, however in certain conditions such as florid reactive follicular hyperplasia and follicular lymphoma, the follicles can become very crowded, even back-to-back with few interfollicular cells in between. synonym: "Crowded follicles" EXACT [] is_a: HP:0020242 ! Abnormal lymph-node follicle architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:50:48Z" xsd:dateTime [Term] id: HP:0020246 name: Lymph-node follicular lysis def: "An abnormal morphology of hyperplastic lymph node follicles characterized by distortion of the follicular architecture by tongues and clusters of dark blue mantle cells impinging on and invading the reactive germinal center (Mostly T cells and mantle-zone B cells)." [PMID:14502795] synonym: "Follicular lysis" EXACT [] is_a: HP:0020242 ! Abnormal lymph-node follicle architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T17:51:28Z" xsd:dateTime [Term] id: HP:0020247 name: Non-polarized lymph node germinal centers def: "A loss of the typical polarization of the architecture of a lymph node germinal center." [] comment: Germinal centers typically have one side containing mostly larger centroblasts and the other side containing mostly small centrocytes. The side with more centroblasts appears darker on an H&E stained section and is termed the dark zone and the other side appears lighter and is termed the light zone. This polarization of germinal center topology is often visualized on H&E stained sections of reactive lymph nodes but may not be as obvious if the germinal centers are small or if the specific section happens to contain mostly dark zone or mostly light zone. This polarization is typically lost in follicular lymphomas. is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T18:54:26Z" xsd:dateTime [Term] id: HP:0020248 name: Irregularly shaped lymph node germinal centers def: "A deviation from the typically fairly round or oval form of a lymph node germinal center." [] comment: Germinal centers may become more elongated and/or take on irregular shapes such as somewhat snake-like/serpentine or other shapes. is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T18:59:23Z" xsd:dateTime [Term] id: HP:0020249 name: Abnormal lymph-node marginal or mantle zone morphology def: "An abnormality of the structure of the mantle or marginal zone of a lymph node." [] comment: The normal marginal zone is the area circumferentially adjacent to the mantle zone and distal to the germinal center of a reactive (secondary) follicle. is_a: HP:0020242 ! Abnormal lymph-node follicle architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:13:12Z" xsd:dateTime [Term] id: HP:0020250 name: Abnormal lymph node marginal zone morphology comment: Marginal zones are not typically present in lymph nodes, and when they are, they are difficult to distinguish from mantle zones on H&E. Marginal zones are a rim/band of lymphocytes surrounding mantle zones in secondary follicles (those containing germinal centers), and are typically only visualized in specific locations such as Peyer patches of the small bowel, or spleen, and not normally seen in lymph nodes. Expansion of marginal zones should prompt evaluation for a possible marginal zone lymphoma. is_a: HP:0020249 ! Abnormal lymph-node marginal or mantle zone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:13:37Z" xsd:dateTime [Term] id: HP:0020251 name: Abnormal lymph node mantle zone morphology is_a: HP:0020249 ! Abnormal lymph-node marginal or mantle zone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:13:46Z" xsd:dateTime [Term] id: HP:0020253 name: Lymph node with expanded mantle zones def: "Enlargement of the typical outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node." [] comment: Secondary follicles (follicles with germinal centers) typically show mantle zones which are a rim or band of mostly B cells surrounding germinal centers that on H&E appears as densely packed small lymphocytes immediately surrounding germinal centers. The mantle zone is usually relatively thin (i.e. only a few rows of lymphocytes extending out from the germinal center), however may be significantly expanded, particularly in mantle cell lymphoma. synonym: "Germinal centers with expanded mantle zones" EXACT [] synonym: "Germinal centres with expanded mantle zones" EXACT uk_spelling [] is_a: HP:0020251 ! Abnormal lymph node mantle zone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:15:33Z" xsd:dateTime [Term] id: HP:0020254 name: Lymph node with poorly defined germinal center borders def: "Reduced demarcation of the border between germinal centers and mantle zones. This border is typically seen as a crisp line on hematoxylin and eosin (H&E)-stained lymph node sections." [] comment: Although not necessarily a neoplastic feature, the border between germinal centers and mantle zones may become poorly demarcated in certain lymphomas. is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:16:18Z" xsd:dateTime [Term] id: HP:0020255 name: Abnormal lymph-node germinal center morphology def: "Any phenotypic abnormality of germinal centers of a lymph node." [PMID:30410492] comment: The germinal center is a specialized microstructure that forms in secondary lymphoid tissues, producing long-lived antibody secreting plasma cells and memory B cells, which can provide protection against reinfection. is_a: HP:0020242 ! Abnormal lymph-node follicle architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:18:31Z" xsd:dateTime [Term] id: HP:0020257 name: Mantle zone pattern def: "This refers to an architectural pattern of infiltration where atypical lymphocytes surround germinal centers, often expanding the mantle zones but without effacing architecture." [] comment: This pattern may be observed in mantle cell lymphoma. is_a: HP:0020251 ! Abnormal lymph node mantle zone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:32:09Z" xsd:dateTime [Term] id: HP:0020258 name: Germinal centers with absent marginal zones is_a: HP:0020250 ! Abnormal lymph node marginal zone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:32:58Z" xsd:dateTime [Term] id: HP:0020261 name: Poorly defined primary lymph-node follicles def: "Lack of the typical easily recognized delineation of primary follicles within lymph nodes." [] comment: Follicles generally are relatively distinct at low magnification on H&E stained slides, however may not be obvious on the H&E stained slide, requiring immunohistochemistry to confirm the presence of follicle formation. is_a: HP:0020242 ! Abnormal lymph-node follicle architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:36:39Z" xsd:dateTime [Term] id: HP:0020262 name: Progressive transformation of germinal centers def: "This is a condition sometimes seen in a subset of germinal centers of reactive lymph nodes where germinal centers become enlarged and infiltrated by benign mantle zone cells and some T cells." [PMID:14502795] comment: While PTGC is a relatively common finding, there is an association with nodular lymphocyte predominant Hodgkin lymphoma, and morphologically may mimic follicular lymphoma (as well as immunohistochemically with regard to BCL2 staining if not carefully evaluated at high magnification), particularly the floral variant. synonym: "PTGC" EXACT abbreviation [] is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:37:12Z" xsd:dateTime [Term] id: HP:0020263 name: Absent germinal center tingible body macrophages def: "Lack of observable tingible body macrophages (TBMs) in germinal centers (GCs) of secondary lymphoid follicles. TBMs represent unique, large phagocytic cells that reside and are a subset of mononuclear phagocytes." [PMID:33967475] comment: Germinal centers typically contain macrophages that are engulfing cells undergoing apoptosis from the antigen selection process. The macrophages have relatively abundant cytoplasm containing apoptotic debris and are termed tingible-body macrophages (tingible is a somewhat non-specific term simply meaning capable of being stained). Tingible-body macrophages may be rare or absent in abnormal germinal centers such as in follicular lymphoma. Tingible body macrophages owe their name to their ability to actively phagocytose apoptotic lymphoid cells, and the tingible bodies (TBs) observed in their cytoplasm are apoptotic bodies. is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:49:24Z" xsd:dateTime [Term] id: HP:0020264 name: Lack of germinal center mitotic figures def: "Absence of extreme paucity of mitotic figures in a lymph node germinal center." [] comment: Germinal centers typically have many cells undergoing cell division and therefore mitotic figures are frequently seen within germinal centers. If multiple germinal centers are present, it is unusual not to see at least some mitotic figures. Absent/decreased mitotic figures is an abnormal finding typically seen in low grade follicular lymphomas. is_a: HP:0020255 ! Abnormal lymph-node germinal center morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:54:40Z" xsd:dateTime [Term] id: HP:0020265 name: Non-polarized mantle zones def: "Lack of the typical polarization of the outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node." [] comment: Secondary follicles (follicles with germinal centers) typically show mantle zones which are a rim or band of mostly B cells surrounding germinal centers that on H&E appears as densely packed small lymphocytes immediately surrounding germinal centers. The mantle zones typically are thicker (are several rows of lymphocytes extending out from the germinal center) on one side and thinner (only one or very few rows of lymphocytes extending out from the germinal center) on the other side. This polarization is not always obvious but is often seen, and is often lost in some atypical conditions such as lymphomas involving or surrounding germinal centers. is_a: HP:0020251 ! Abnormal lymph node mantle zone morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T19:55:20Z" xsd:dateTime [Term] id: HP:0020266 name: Hyalinized lymph-node vessels def: "Hyalinized means to become clear/translucent such as collagen becoming more pale staining (collagen is typically quite eosinophilic, meaning attracted to the pink/red dye eosin); however, with regard to vessels in the lymph node, hyalinization is often used to describe vessel walls that appear markedly thickened or surrounded by eosinophilic material such as collagen, not necessarily translucent appearing." [] is_a: HP:0020230 ! Abnormal lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:10:23Z" xsd:dateTime [Term] id: HP:0020267 name: Lymph-node follicular sclerosis def: "Collagen deposition, typically with decreased cellularity, within lymph-node follicles." [] synonym: "Follicular sclerosis" EXACT [] is_a: HP:0020242 ! Abnormal lymph-node follicle architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:12:24Z" xsd:dateTime [Term] id: HP:0020268 name: Compressed lymph-node sinuses def: "Loss of the typical patency (openness) of lymph node sinuses." [] comment: Lymph node sinuses are structures that carry fluid and some cells traveling to and from the lymph node parenchyma, and often contain some histiocytes. These are normally patent but may be compressed by proliferating or infiltrating cells such as lymphoma to the point where they are no longer visible on routine H&E stained sections. is_a: HP:0020230 ! Abnormal lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:14:01Z" xsd:dateTime [Term] id: HP:0020269 name: Lymph-node proliferation centers def: "Proliferation centers are a finding specific to chronic lymphocytic leukemia/small lymphocytic lymphoma where regions (typically relatively small, comparable to the size of a lymph node follicle) appear more pale on H&E stained sections (though they may become enlarged to merge together). These areas contain increased numbers of enlarged lymphoma cells with nucleoli (prolymphocytes and paraimmunoblasts) and show a higher proliferation rate (readily visualized with a Ki-67 immunohistochemical stain) than surrounding lymphoma cells. They can be mistaken as vague follicle formation and are therefore sometimes referred to as pseudofollicles." [] synonym: "Pseudofollicles" EXACT [] is_a: HP:0020230 ! Abnormal lymph-node tissue architecture property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:15:07Z" xsd:dateTime [Term] id: HP:0020270 name: Cytologic atypia in mantle cells def: "Lymphocytes in the mantle zones of lymph node secondary follicles show cellular atypia such as enlarged size, increased cytoplasm, atypical distribution of chromatin, or irregular nuclear contours." [] comment: This finding may raise suspicion of a neoplasm of mantle zone cells such as mantle cell lymphoma. Other lymphomas with cytologic atypia such as marginal zone lymphoma may also replace normal mantle zone cells. is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:16:11Z" xsd:dateTime [Term] id: HP:0020271 name: Increased lymph-node eosinophils def: "Eosinophils count within a lymph node above normal limits." [] comment: Lymph nodes typically contain very few if any eosinophils but the number of eosinophils may be high in certain reactive or neoplastic states. is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:39:36Z" xsd:dateTime [Term] id: HP:0020272 name: Increased lymph-node plasma cells def: "Number of plasma cells per lymph node above the upper limit of normal." [] comment: Lymph nodes typically contain some plasma cells and the number of plasma cells may be increased, sometimes forming sheets of plasma cells, in certain reactive or neoplastic conditions. is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:40:09Z" xsd:dateTime [Term] id: HP:0020273 name: High lymph node non-germinal center mitotic activity def: "Increased numbers of mitotic figures outside of germinal centers." [] comment: Within lymph nodes, germinal centers typically show a high rate of cell division and correspondingly high number of cells undergoing mitosis. Cells outside of germinal centers typically show low levels of cell division visualized as low numbers of mitotic figures. Increased numbers of mitotic figures outside of germinal centers may be seen in certain reactive or neoplastic states. is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:42:17Z" xsd:dateTime [Term] id: HP:0020274 name: Lymph-node lymphocyte monocytoid morphology def: "Lymphocytes that show morphologic features resembling monocytes, such as increased cytoplasm and slightly enlarged nuclei that are more irregular than most lymph node lymphocytes." [] comment: This finding may be seen in reactive conditions such as monocytoid B-cell hyperplasia of certain infections or in neoplastic states such as certain marginal zone lymphomas. is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:43:15Z" xsd:dateTime [Term] id: HP:0020275 name: Reduced lymph node lymphocyte morphological variability def: "Decreased morphological variability of lymph node lymphocytes as compared to the typically somewhat heterogeneous morphology of populations of benign lymph node lymphocytes." [] comment: Lymph nodes often contain primarily small lymphocytes but typically have some admixed larger lymphocytes and show a little morphological variability. Neoplastic states may show increased morphological variability or decreased morphological variability, the latter showing unusually monotonous morphology among the population of lymphocytes. synonym: "Monomorphic cells" EXACT [] is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:48:12Z" xsd:dateTime [Term] id: HP:0020276 name: Increased large lymphocytes in lymph node def: "An increased number of large lymphocytes within a lymph node compared to a normal non-reactive lymph node." [] comment: Lymph nodes will often show primarily small lymphocytes with relatively few scattered large lymphocytes (often termed immunoblasts). Increased large cells may indicate a reactive condition such as mononucleosis or a neoplastic condition. It may also help differentiate two different neoplasms such as marginal zone lymphoma (which often has increased scattered large cells) and mantle cell lymphoma (which usually has decreased scattered large cells). is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:51:47Z" xsd:dateTime [Term] id: HP:0020277 name: Hodgkin morphology cells def: "Hodgkin cells are typically large and often show very large nucleoli and sometimes binucleation or multinucleation. Reed-Sternberg cells are a type of Hodgkin cell that is binucleated with very large nucleoli that stains slightly red on H&E stained sections (often said to mimic owl eyes). Other Hodgkin cell morphologies include cells that are dying with dark basophilic (blue) nuclei that appear somewhat smudged (mummified cells) and cells with a large space around or adjacent to the nuclei and retracted cytoplasm after tissue fixation (lacunar cells). Hodgkin cells are characteristic of Hodgkin lymphoma, however several non-Hodgkin lymphomas and noN-neoplastic conditions are known to sometimes show a few similar morphology cells." [PMID:31194473] is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:56:04Z" xsd:dateTime [Term] id: HP:0020278 name: Abnormal lymph-node lymphoctye nuclear morphology is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T20:58:14Z" xsd:dateTime [Term] id: HP:0020279 name: Irregular lymph-node lymphocyte nuclei def: "Lymph node lymphocyte nuclei that are more irregular than the typical round to slightly oval shapes of the majority of lymph node lymphocytes." [] comment: More irregularly shaped nuclei can be seen in normal germinal centers (i.e. centrocytes) and in many types of lymphomas. is_a: HP:0020278 ! Abnormal lymph-node lymphoctye nuclear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:00:50Z" xsd:dateTime [Term] id: HP:0020280 name: Lymph-node Dutcher bodies def: "Dutcher bodies are collections of immunoglobulin protein that overlie or invaginate into the nucleus of plasma cells. These nuclear pseudoinclusions can occasionally be seen in reactive states and may be increased in specific neoplastic conditions." [PMID:31309083] is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:07:57Z" xsd:dateTime [Term] id: HP:0020281 name: Finely dispersed lymph node lymphocyte chromatin def: "Nuclei of lymphocytes with less dense, evenly distributed chromatin than the normal densely packed, often clumped chromatin of mature lymphocytes." [] comment: This finding is seen in very immature lymphocyte precursors (i.e. lymphoblasts in lymphoblastic leukemia/lymphoma) or blastoid cells such as in blastoid mantle cell lymphoma. is_a: HP:0020282 ! Abnormal lymph-node lymphocyte chromatin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:10:16Z" xsd:dateTime [Term] id: HP:0020282 name: Abnormal lymph-node lymphocyte chromatin def: "Any phenotypic abnormality of the chromatin (complex of DNA and protein which comprises chromosomes) of lymphocytes that are located within a lymph node." [] is_a: HP:0020278 ! Abnormal lymph-node lymphoctye nuclear morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:12:30Z" xsd:dateTime [Term] id: HP:0020283 name: Clumping of lymph node lymphocyte chromatin def: "Nuclei of lymphocytes show multiple small densely packed areas of chromatin that appear as relatively evenly spaced clumps of basophilic (blue) staining within the nuclei on Hematoxylin and eosin (H&E) stained sections." [] comment: This is a somewhat non-specific finding but one that is often more prominent in lymphocytes of chronic lymphocytic leukemia/small lymphocytic lymphoma. is_a: HP:0020282 ! Abnormal lymph-node lymphocyte chromatin property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:12:49Z" xsd:dateTime [Term] id: HP:0020284 name: Abnormal lymph-node lymphocyte cytoplasm morphology def: "Any phenotypic abnormality of the cytoplasm (material located within the cell membrane but excluding the nucleus) of lymphocytes that are located within a lymph node." [] is_a: HP:0020231 ! Abnormal lymph-node cellular finding property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:14:57Z" xsd:dateTime [Term] id: HP:0020285 name: Decreased lymph node lymphocyte cytoplasm def: "The amount of cytoplasm in lymphocytes is even less than the relatively little cytoplasm found in the majority of lymphocytes within lymph nodes." [] comment: This finding is typically seen in centrocytes, either within normal germinal centers or neoplastic centrocytes in follicles of follicular lymphoma. synonym: "Scant lymph node lymphocyte cytoplasm" EXACT [] is_a: HP:0020284 ! Abnormal lymph-node lymphocyte cytoplasm morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:15:10Z" xsd:dateTime [Term] id: HP:0020286 name: Increased lymph node lymphocyte cytoplasm def: "Increased amount of cytoplasm compared to the majority of lymphocytes in a benign lymph node." [] comment: This finding may be observed in reactive or neoplastic lymphocytes located in a lymph node. is_a: HP:0020284 ! Abnormal lymph-node lymphocyte cytoplasm morphology property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:16:06Z" xsd:dateTime [Term] id: HP:0020287 name: Abnormal level of lymph-node cellular CD19 expression def: "Detection of an abnormal level of CD19 on the cell(s) of interest in a lymph node with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry)." [] comment: Most B-lineage lymphomas and leukemias show CD19 expression. Neoplastic plasma cells (plasma cells are derived from B cells), however, often lose CD19 expression. is_a: HP:0020288 ! Abnormal lymph-node cellular B-cell marker expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:24:24Z" xsd:dateTime [Term] id: HP:0020288 name: Abnormal lymph-node cellular B-cell marker expression def: "Abnormal expression of an antigen (marker) that is normally expressed by B lymphocytes." [] comment: This term is intended to be applied to findings of lymph-node biopsies in diseases such as lymphoma. is_a: HP:0020233 ! Abnormal lymph-node cellular antigen expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:25:13Z" xsd:dateTime [Term] id: HP:0020289 name: Abnormal level of lymph-node cellular CD20 expression def: "Detection of abnormal levels of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry)." [] comment: CD20 is normally expressed fairly highly on B-lineage cells, except plasma cells (down-regulate CD20 expression to the point where only a small subset of cells show expression). is_a: HP:0020288 ! Abnormal lymph-node cellular B-cell marker expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:25:52Z" xsd:dateTime [Term] id: HP:0020290 name: CD79a expression def: "Detection of the presence of CD79a on the cell(s) of interest with the use of anti-CD79a antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry)." [] comment: Most B-lineage lymphomas and leukemias as well as plasma cell neoplasms (plasma cells are derived from B cells) show CD79a expression. is_a: HP:0430091 ! Marker expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:26:16Z" xsd:dateTime [Term] id: HP:0020291 name: Increased lymph-node cellular CD20 expression def: "Increased levels of CD20 expression compared to normal B cells." [] comment: CD20 is normally expressed fairly highly on B-lineage cells, but occasionally may show increased levels of expression relative to normal resting B cells. Increased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison. is_a: HP:0020289 ! Abnormal level of lymph-node cellular CD20 expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:27:29Z" xsd:dateTime [Term] id: HP:0020292 name: Decreased lymph-node cellular CD20 expression def: "Decreased levels of CD20 expression compared to normal B cells." [] comment: CD20 is normally expressed fairly highly on B-lineage cells, but occasionally may show decreased levels of expression relative to normal resting B cells. Decreased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison. is_a: HP:0020289 ! Abnormal level of lymph-node cellular CD20 expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:27:35Z" xsd:dateTime [Term] id: HP:0020293 name: Decreased lymph-node cellular CD19 expression def: "Decreased levels of CD19 expression compared to normal B cells." [] comment: CD19 is normally expressed fairly highly on B-lineage cells, but occasionally may show decreased levels of expression relative to normal resting B cells. Decreased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison. is_a: HP:0020287 ! Abnormal level of lymph-node cellular CD19 expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:28:23Z" xsd:dateTime [Term] id: HP:0020294 name: Increased lymph-node cellular CD19 expression def: "Increased levels of CD19 expression compared to normal B cells." [] comment: CD19 is normally expressed fairly highly on B-lineage cells, but occasionally may show increased levels of expression relative to normal resting B cells. Increased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison. is_a: HP:0020287 ! Abnormal level of lymph-node cellular CD19 expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:28:31Z" xsd:dateTime [Term] id: HP:0020295 name: PAX5 expression def: "Detection of the presence of PAX5 on the cell(s) of interest with the use of anti-PAX5 antibodies conjugated to a chromogen (for immunohistochemistry)." [] comment: PAX5 is a transcription factor that helps control B-cell lineage differentiation and is expressed in the nucleus of immature and mature B cells (including most neoplastic forms), but not in plasma cells. is_a: HP:0430091 ! Marker expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:28:56Z" xsd:dateTime [Term] id: HP:0020296 name: Germinal center B-lymphocyte BCL2 expression def: "Positive staining for BCL2 apoptosis regulator protein in lymph-node germinal center B cells." [] comment: The BCL2 family of proteins regulate apoptosis, and BCL2 itself displays anti-apoptotic functions. In normal germinal centers, where antigenic selection leads to apoptosis of B cells that recognize self proteins, BCL2 is not expressed. Most low grade follicular lymphomas show aberrant expression of the anti-apoptotic protein BCL2, presumably helping to prevent the germinal center derived neoplastic B cells from undergoing apoptosis. Expression of BCL2 by germinal center B cells is abnormal and typically seen in low grade follicular lymphomas and in at least a subset of B cells in many high grade follicular lymphomas as well. Careful inspection is required when interpreting the stain, however, as normal T cells and occasionally infiltrating mantle zone B cells may also be seen in germinal centers, and these should not be interpreted as BCL2 expression in germinal center B cells. is_a: HP:0020233 ! Abnormal lymph-node cellular antigen expression property_value: terms:creator https://orcid.org/0000-0002-0736-9199 property_value: terms:date "2023-11-10T21:31:00Z" xsd:dateTime [Term] id: HP:0025004 name: Hallux rigidus def: "Osteoarthritis of the metatarsophalangeal joint of the first toe." [https://orcid.org/0000-0002-0736-9199, PMID:24649409] comment: Hallux rigidus is characterized by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. synonym: "Arthritis of the big toe" EXACT layperson [] xref: SNOMEDCT_US:6654000 xref: UMLS:C0264134 is_a: HP:0001844 ! Abnormal hallux morphology property_value: dc:date "2016-06-25T09:23:22Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025005 name: Thickening of glomerular capillary wall def: "Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself." [https://orcid.org/0000-0002-0736-9199, PMID:6879730] is_a: HP:0025006 ! Abnormal glomerular capillary morphology property_value: dc:date "2016-08-06T22:31:55Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025006 name: Abnormal glomerular capillary morphology def: "A structural anomaly of the capillary blood vessels in the renal glomerulus." [] synonym: "Abnormalities of the glomerular capillary wall" RELATED [] is_a: HP:0000095 ! Abnormal renal glomerulus morphology property_value: dc:date "2016-08-06T22:53:26Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025007 name: Ectopic fovea def: "An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina." [] synonym: "Ectopic macula" BROAD [] is_a: HP:0000493 ! Abnormal foveal morphology property_value: dc:date "2016-08-06T23:07:53Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025008 name: Tracheal tug on inspiration def: "Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree." [https://orcid.org/0000-0002-0003-6754] is_a: HP:0002795 ! Abnormal respiratory system physiology property_value: dc:date "2016-08-06T23:22:12Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025009 name: Forward slanting upper incisors def: "The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards." [] synonym: "Forward directed upper incisors" EXACT [] synonym: "Proclination of the upper incisors" EXACT [] synonym: "Protruding upper incisors" EXACT [] is_a: HP:0011062 ! Misalignment of incisors property_value: dc:date "2016-08-07T12:52:55Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025010 name: Foveal atrophy def: "Partial or complete loss of foveal tissue that was once present." [https://orcid.org/0000-0002-0736-9199] comment: Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT). is_a: HP:0000493 ! Abnormal foveal morphology property_value: dc:date "2016-08-07T13:52:09Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025011 name: Pyriform aperture stenosis def: "Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose." [https://orcid.org/0000-0002-0736-9199] comment: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901]. is_a: HP:0005105 ! Abnormal nasal morphology property_value: dc:date "2016-08-07T22:32:49Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025012 name: Status cribrosum def: "Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations." [https://orcid.org/0000-0002-0736-9199] is_a: HP:0002134 ! Abnormal basal ganglia morphology property_value: dc:date "2016-08-07T23:40:40Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025013 name: Decerebrate rigidity def: "A type of rigidity that is manifested by an exaggerated extensor posture of all extremities." [https://orcid.org/0000-0002-0003-6754] comment: Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration). synonym: "Decerebrate posturing" EXACT [] is_a: HP:0002063 ! Rigidity property_value: dc:date "2016-08-09T11:43:43Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025014 name: Subcutaneous spheroids def: "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [PMID:20847697] comment: This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. is_a: HP:0001482 ! Subcutaneous nodule property_value: dc:date "2016-08-12T11:18:11Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025015 name: Abnormal vascular morphology is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormal cardiovascular system morphology property_value: dc:date "2016-08-12T11:24:56Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025016 name: Abnormal capillary morphology def: "A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." [] is_a: HP:0033353 ! Abnormal blood vessel morphology property_value: dc:date "2016-08-12T11:42:27Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025017 name: Capillary fragility def: "Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises)." [] comment: The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085]. is_a: HP:0025018 ! Abnormal capillary physiology property_value: dc:date "2016-08-12T11:50:33Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025018 name: Abnormal capillary physiology def: "A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." [] is_a: HP:0030163 ! Abnormal vascular physiology property_value: dc:date "2016-08-12T11:56:48Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025019 name: Arterial rupture def: "Sudden breakage of an artery leading to leakage of blood from the circulation." [https://orcid.org/0000-0002-0736-9199] is_a: HP:0025323 ! Abnormal arterial physiology property_value: dc:date "2016-08-12T12:03:50Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025020 name: Elevated prostate-specific antigen level def: "An increased concentration of prostate specific antigen (PSA) in the circulation." [PMID:26366236] comment: Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question. is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: dc:date "2016-08-12T12:13:13Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025021 name: Abnormal erythrocyte sedimentation rate def: "A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488] synonym: "Abnormal ESR" EXACT layperson [] synonym: "Abnormal Westergren sedimentation rate" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: dc:date "2016-08-22T10:26:22Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025022 name: Decreased erythrocyte sedimentation rate def: "A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488] synonym: "Decreased ESR" EXACT abbreviation [https://orcid.org/0000-0001-7941-2961] synonym: "Low ESR" EXACT layperson [] is_a: HP:0025021 ! Abnormal erythrocyte sedimentation rate property_value: dc:date "2016-08-22T10:39:06Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025023 name: Rectal atresia def: "A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum." [https://orcid.org/0000-0002-0736-9199, PMID:20006038] synonym: "Atresia of the rectum" EXACT [] is_a: HP:0002034 ! Abnormal rectum morphology is_a: HP:0011100 ! Intestinal atresia property_value: dc:date "2016-08-26T11:13:58Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025024 name: Megarectum def: "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum." [https://orcid.org/0000-0002-0736-9199, PMID:10869000] comment: Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and fecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. is_a: HP:0002034 ! Abnormal rectum morphology property_value: dc:date "2016-08-26T11:18:38Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025025 name: Rectovestibular fistula def: "A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening." [https://orcid.org/0000-0002-0736-9199] comment: The condition can cause feces and gas to exit the vaginal vestibule. synonym: "Vestibular fistula" EXACT [] is_a: HP:0100590 ! Rectal fistula property_value: dc:date "2016-08-26T11:49:07Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025026 name: H-type rectovestibular fistula def: "Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract." [PMID:20223314] is_a: HP:0025025 ! Rectovestibular fistula property_value: dc:date "2016-08-26T11:58:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025027 name: Osteoma cutis def: "The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin." [https://orcid.org/0000-0002-0736-9199, PMID:21152797, PMID:26273166] synonym: "Cutaneous osteosis" EXACT [] synonym: "Miliary osteoma" EXACT [] synonym: "Osteomatosis" EXACT [] is_a: HP:0200036 ! Skin nodule property_value: dc:date "2016-08-26T12:11:51Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025028 name: Abnormal enteric nervous system morphology def: "A structural anomaly of nerves of the enteric nervous system." [] comment: The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter. synonym: "Abnormality of enteric nervous system morphology" EXACT [] is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0012331 ! Abnormal autonomic nervous system morphology property_value: dc:date "2016-08-27T11:10:48Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025029 name: Abnormal enteric neuron morphology synonym: "Abnormality of enteric neuron morphology" EXACT [] is_a: HP:0025028 ! Abnormal enteric nervous system morphology property_value: dc:date "2016-08-27T11:22:10Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025030 name: Enteric neuronal degeneration def: "Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons." [] synonym: "Degenerative enteric neuropathy" RELATED [] is_a: HP:0025029 ! Abnormal enteric neuron morphology property_value: dc:date "2016-08-27T11:43:00Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025031 name: Abnormality of the digestive system comment: Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. is_a: HP:0000118 ! Phenotypic abnormality property_value: dc:date "2016-08-27T13:44:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025032 name: Abnormality of digestive system physiology def: "A functional anomaly of the digestive system." [] is_a: HP:0025031 ! Abnormality of the digestive system property_value: dc:date "2016-08-27T13:58:05Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025033 name: Abnormal digestive system morphology def: "A structural anomaly of the digestive system." [] synonym: "Abnormality of digestive system morphology" EXACT [] is_a: HP:0025031 ! Abnormality of the digestive system property_value: dc:date "2016-08-27T13:58:23Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025034 name: Abnormal morphology of erythroid progenitor cell def: "Abnormal form of the progenitor cells committed to the erythroid lineage." [] is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology property_value: dc:date "2016-09-02T11:14:05Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025035 name: Abnormal proerythroblast morphology def: "Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." [] is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology property_value: dc:date "2016-09-02T11:16:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025037 name: Hypothalamic gliosis def: "Focal proliferation of glial cells in the hypothalamus." [https://orcid.org/0000-0002-0736-9199, PMID:26530930] is_a: HP:0002171 ! Gliosis property_value: dc:date "2016-09-20T10:59:06Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025038 name: Intratesticular abscess def: "A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins." [PMID:11598263] synonym: "Testicular abscess" EXACT [] is_a: HP:0000035 ! Abnormal testis morphology is_a: HP:0025615 ! Abscess property_value: dc:date "2016-09-21T11:02:09Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025039 name: Basal ganglia edema def: "Swelling within the basal ganglia due to the accumulation of fluid." [] synonym: "Basal ganglia edema" EXACT [] synonym: "Edema of the basal ganglia" EXACT [] synonym: "Oedema of the basal ganglia" EXACT [] is_a: HP:0002134 ! Abnormal basal ganglia morphology property_value: dc:date "2016-09-25T14:00:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025040 name: Thalamic edema def: "Swelling within the thalamus due to the accumulation of fluid." [] synonym: "Edema of the thalamus" EXACT [] synonym: "Oedema of the thalamus" EXACT [] synonym: "Thalamic edema" EXACT [] is_a: HP:0010663 ! Abnormal thalamus morphology property_value: dc:date "2016-09-25T14:11:37Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025041 name: Thalamic calcification def: "Calcium deposition in the thalamus." [] is_a: HP:0010663 ! Abnormal thalamus morphology property_value: dc:date "2016-09-25T14:15:01Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025042 name: Abnormality of mesenteric lymph nodes def: "A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery." [] is_a: HP:0002733 ! Abnormal lymph node morphology property_value: dc:date "2016-09-25T14:21:49Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025043 name: Enlarged mesenteric lymph node def: "Increase in size of one or more mesenteric lymph nodes." [] comment: Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged. is_a: HP:0025042 ! Abnormality of mesenteric lymph nodes property_value: dc:date "2016-09-25T14:26:25Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025044 name: Lung abscess def: "A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity." [PMID:26366400] is_a: HP:0011947 ! Respiratory tract infection is_a: HP:0025615 ! Abscess property_value: dc:date "2016-09-25T14:30:50Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025045 name: Abnormal brain lactate level by MRS def: "A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Abnormal lactate level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: dc:date "2016-09-25T16:43:58Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025046 name: Reduced brain lactate level by MRS def: "A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Reduced brain lactate level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025045 ! Abnormal brain lactate level by MRS property_value: dc:date "2016-09-25T16:45:22Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025047 name: Abnormal brain choline level by MRS def: "A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Abnormal brain choline level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: dc:date "2016-09-25T16:48:23Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025048 name: Reduced brain choline level by MRS def: "An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Reduced brain choline level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025047 ! Abnormal brain choline level by MRS property_value: dc:date "2016-09-25T16:49:14Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025049 name: Abnormal brain creatine level by MRS comment: A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). synonym: "Abnormal brain creatine level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: dc:date "2016-09-26T08:45:22Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025050 name: Elevated brain creatine level by MRS def: "An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Elevated brain creatine level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025049 ! Abnormal brain creatine level by MRS property_value: dc:date "2016-09-26T08:46:45Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025051 name: Reduced brain creatine level by MRS def: "A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [PMID:12557293, PMID:15625559] synonym: "Low brain creatine phosphate" EXACT [] synonym: "Reduced brain creatine level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025049 ! Abnormal brain creatine level by MRS property_value: dc:date "2016-09-26T08:48:05Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025052 name: Abnormal brain N-acetyl aspartate level by MRS def: "A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: dc:date "2016-09-26T08:50:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025053 name: Elevated brain N-acetyl aspartate level by MRS def: "An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025052 ! Abnormal brain N-acetyl aspartate level by MRS property_value: dc:date "2016-09-26T08:52:49Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025057 name: Abnormal olfactory lobe morphology def: "A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell." [] synonym: "Abnormality of olfactory lobe morphology" EXACT [] is_a: HP:0100547 ! Abnormal forebrain morphology property_value: dc:date "2016-09-26T09:03:16Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025058 name: Hypothalamic atrophy def: "Partial or complete wasting (loss) of hypothalamus tissue that was once present." [] synonym: "Atrophy of the hypothalamus" EXACT [] is_a: HP:0012286 ! Abnormal hypothalamus morphology property_value: dc:date "2016-09-26T09:07:40Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025059 name: Splenic abscess def: "A circumscribed area of pus or necrotic debris in the parenchyma of the spleen." [PMID:21319348] comment: Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes. is_a: HP:0025408 ! Abnormal spleen morphology property_value: dc:date "2016-09-26T09:11:25Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025060 name: Multifocal splenic abscess def: "Multiple abscess lesions in the spleen." [] synonym: "Multilocular splenic abscess" EXACT [] is_a: HP:0025059 ! Splenic abscess property_value: dc:date "2016-09-26T09:19:25Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025061 name: Unifocal splenic abscess def: "Single (solitary) abscess in the spleen." [] synonym: "Solitary splenic abscess" EXACT [] synonym: "Unilocular splenic abscess" EXACT [] is_a: HP:0025059 ! Splenic abscess property_value: dc:date "2016-09-26T09:21:20Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025062 name: Geophagia def: "The practice of eating earth or soil-like substrates such as clay or chalk." [PMID:23816735] synonym: "Geophagy" EXACT [] is_a: HP:0011856 ! Pica property_value: dc:date "2016-09-26T09:47:56Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025063 name: Scaphoid abdomen def: "The anterior abdominal wall is sunken and presents a concave rather than a convex contour." [] comment: Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax). is_a: HP:0011458 ! Abdominal symptom property_value: dc:date "2016-09-26T09:54:43Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025064 name: Thalamic hemorrhage def: "Bleeding in the thalamus." [] comment: Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging. synonym: "Thalamic hemorrhage" EXACT [] is_a: HP:0010663 ! Abnormal thalamus morphology property_value: dc:date "2016-09-26T10:03:34Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025065 name: Abnormal mean corpuscular volume def: "A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters." [] synonym: "Abnormal erythrocyte volume" EXACT [] synonym: "Abnormal MCV" EXACT abbreviation [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: dc:date "2016-09-26T10:08:33Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025066 name: Decreased mean corpuscular volume def: "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." [] synonym: "Decreased MCV" EXACT abbreviation [] synonym: "Microcytosis" EXACT [] synonym: "Reduced erythrocyte volume" EXACT [] is_a: HP:0025065 ! Abnormal mean corpuscular volume property_value: dc:date "2016-09-26T10:10:48Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025068 name: Incomitant strabismus def: "Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort." [https://orcid.org/0000-0003-0986-4123] is_a: HP:0000486 ! Strabismus property_value: dc:date "2016-09-26T10:25:28Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025069 name: Concomitant strabismus def: "Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing." [] synonym: "Comitant strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: dc:date "2016-09-26T10:29:59Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025070 name: Abnormal U wave def: "An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3." [PMID:22665396] comment: U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease. is_a: HP:0003115 ! Abnormal EKG property_value: dc:date "2016-09-26T10:36:56Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025071 name: U wave inversion def: "Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves." [] comment: Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia. is_a: HP:0025070 ! Abnormal U wave property_value: dc:date "2016-09-26T10:39:43Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025072 name: Prominent U wave def: "Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave." [] synonym: "Increased U wave amplitude" EXACT [] is_a: HP:0025070 ! Abnormal U wave property_value: dc:date "2016-09-26T10:42:48Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025073 name: Exercise-induced U wave inversion def: "U wave inversion that is induced by exercise stress testing." [PMID:22665396] is_a: HP:0025071 ! U wave inversion property_value: dc:date "2016-09-26T10:44:21Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025074 name: Abnormal QRS complex def: "An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram." [] is_a: HP:0003115 ! Abnormal EKG property_value: dc:date "2016-09-26T10:46:17Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025075 name: Increased QRS voltage def: "Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm)." [] is_a: HP:0025076 ! Abnormal QRS voltage property_value: dc:date "2016-09-26T10:48:06Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025076 name: Abnormal QRS voltage def: "Abnormal amplitude of the QRS complex of the electrocardiogram (EKG)." [] is_a: HP:0025074 ! Abnormal QRS complex property_value: dc:date "2016-09-26T10:50:26Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025077 name: Decreased QRS voltage def: "Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm." [] is_a: HP:0025076 ! Abnormal QRS voltage property_value: dc:date "2016-09-26T10:50:45Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025078 name: Electrical alternans def: "The QRS complexes of the electrocardiogram alternate in height." [PMID:8222799] is_a: HP:0025076 ! Abnormal QRS voltage property_value: dc:date "2016-09-26T10:52:41Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025079 name: Pancreatic abscess def: "A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas." [] synonym: "Pancreas abscess" EXACT [] is_a: HP:0012090 ! Abnormal pancreas morphology is_a: HP:0025615 ! Abscess property_value: dc:date "2016-09-26T11:01:28Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025080 name: Orthokeratotic hyperkeratosis def: "A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei." [] comment: Hyperkeratosis is most commonly orthokeratotic. is_a: HP:0000962 ! Hyperkeratosis property_value: dc:date "2016-10-12T23:40:17Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025081 name: Darier's sign def: "A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP." [PMID:24701633] is_a: HP:0001025 ! Urticaria property_value: dc:date "2016-10-12T23:46:34Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025082 name: Abnormal cutaneous elastic fiber morphology def: "Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils." [PMID:12082143, PMID:21738362] comment: Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362]. synonym: "Abnormal cutaneous elastic fibre morphology" EXACT uk_spelling [] is_a: HP:0011121 ! Abnormal skin morphology property_value: dc:date "2016-10-15T12:16:20Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025083 name: Elevated dermal desmosine content def: "An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin." [PMID:2307214] comment: Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disorders may show a reduced content of desmosine. is_a: HP:0034924 ! Abnormal dermis morphology property_value: dc:date "2016-10-15T13:13:02Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025084 name: Folliculitis def: "Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule." [] comment: In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation. synonym: "Follicular pustule" EXACT [] synonym: "Hair follicle inflammation" EXACT [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: dc:date "2016-10-15T13:35:26Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025085 name: Bloody diarrhea def: "Passage of many stools containing blood." [] comment: Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. synonym: "Blood in stool" BROAD layperson [] synonym: "Bloody bowel movement" EXACT layperson [] synonym: "Bloody diarrhea" EXACT layperson [] synonym: "Bloody stool" BROAD layperson [] is_a: HP:0002014 ! Diarrhea property_value: dc:date "2016-10-15T13:58:14Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025086 name: Bloody mucoid diarrhea def: "Passage of many stools containing blood and mucus." [] synonym: "Bloody mucoid diarrhea" EXACT [] is_a: HP:0025085 ! Bloody diarrhea property_value: dc:date "2016-10-15T13:59:04Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025087 name: Delayed recoil upon stretching of skin def: "Area of skin requiring an increased amount of time to return to its original shape after being stretched." [] comment: see PMID:23919031 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin property_value: dc:date "2016-10-15T14:50:00Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025088 name: Onychomadesis def: "Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth." [PMID:24882996, PMID:25473242, PMID:28207011] comment: Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line. is_a: HP:0001806 ! Onycholysis property_value: dc:date "2016-10-24T00:35:53Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025089 name: Feculent vomiting def: "Vomiting of material that is of fecal origin." [] comment: Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus). synonym: "Faecal vomiting" EXACT uk_spelling [] synonym: "Fecal vomiting" EXACT [] synonym: "Stercoraceous vomiting" EXACT [] synonym: "Vomiting faecal matter" EXACT uk_spelling [] synonym: "Vomiting fecal matter" EXACT [] is_a: HP:0002013 ! Vomiting property_value: dc:date "2016-10-24T00:38:50Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025090 name: Abnormal large intestinal mucosa morphology def: "A structural anomaly of the mucous lining of the large intestine." [] is_a: HP:0002250 ! Abnormal large intestine morphology property_value: dc:date "2016-10-24T00:55:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025092 name: Epidermal acanthosis def: "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." [] comment: Note that we use the preferred label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells. synonym: "Acanthosis" EXACT [] synonym: "Acanthotic epidermis" EXACT [] synonym: "Epidermal hyperplasia" RELATED [] synonym: "Thickening of upper layer of skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] is_a: HP:0011124 ! Abnormal epidermal morphology property_value: dc:date "2016-10-24T01:14:11Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025093 name: Peripapillary exudate def: "A retinal exudate in the area surrounding the optic nerve head." [] synonym: "Peripapillary exudation" EXACT [] is_a: HP:0001147 ! Retinal exudate property_value: dc:date "2016-10-24T01:19:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025094 name: Disciform macular scar def: "A subretinal scar with a disc-like shape in the region of the macula." [] is_a: HP:0200056 ! Macular scar property_value: dc:date "2016-10-24T01:29:42Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025095 name: Sneeze def: "A sudden violent, spasmodic, audible expiration of breath through the nose and mouth." [] is_a: HP:0025142 ! Constitutional symptom property_value: dc:date "2016-10-24T01:36:17Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025096 name: Paroxysmal sneezing def: "Unprovoked explosive pathological sneezing." [PMID:17388999] is_a: HP:0025095 ! Sneeze property_value: dc:date "2016-10-24T01:37:09Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025097 name: Eyelid myoclonus def: "Marked, involuntary jerking of the eyelids." [] comment: Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. synonym: "Blepharoclonus" EXACT [] synonym: "Eyelid myoclonia" RELATED [] is_a: HP:0001336 ! Myoclonus property_value: dc:date "2016-10-28T05:55:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025098 name: Dysgenesis of the hypothalamus def: "Structural abnormality of the hypothalamus related to defective development." [] comment: Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin. synonym: "Hypothalamic dysgenesis" EXACT [] is_a: HP:0012286 ! Abnormal hypothalamus morphology property_value: dc:date "2016-10-28T06:41:35Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025099 name: Dysgenesis of the thalamus def: "Structural abnormality of the thalamus related to defective development." [] comment: Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin. synonym: "Thalamic dysgenesis" EXACT [] is_a: HP:0010663 ! Abnormal thalamus morphology property_value: dc:date "2016-10-28T06:51:03Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025100 name: Abnormal hippocampus morphology def: "Any structural anomaly of the hippocampus," [] comment: The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. synonym: "Abnormal morphology of the hippocampus" EXACT [] synonym: "Abnormality of hippocampus morphology" EXACT [] is_a: HP:0007343 ! Abnormal morphology of the limbic system property_value: dc:date "2016-10-28T07:12:41Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025101 name: Dysgenesis of the hippocampus def: "Structural abnormality of the hippocampus related to defective development." [] comment: Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin. synonym: "Hippocampal dysgenesis" EXACT [] is_a: HP:0025100 ! Abnormal hippocampus morphology property_value: dc:date "2016-10-28T07:15:06Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025102 name: Dysgenesis of the basal ganglia def: "Structural abnormality of the basal ganglia related to defective development." [] comment: Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin. synonym: "Basal ganglia dysgenesis" EXACT [] is_a: HP:0002134 ! Abnormal basal ganglia morphology property_value: dc:date "2016-10-28T07:21:20Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025103 name: Umbilicated nodule def: "A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated)." [PMID:24050295] is_a: HP:0200036 ! Skin nodule property_value: dc:date "2016-10-28T07:30:43Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025104 name: Capillary malformation def: "A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)." [PMID:22483320, PMID:25864701] comment: There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow. is_a: HP:0011355 ! Localized skin lesion property_value: dc:date "2016-10-28T23:39:18Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025105 name: Nevus anemicus def: "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots." [PMID:22483320, PMID:25864701] synonym: "Naevus anaemicus" EXACT [] is_a: HP:0025104 ! Capillary malformation property_value: dc:date "2016-10-28T23:49:41Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025106 name: Nevus roseus def: "A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life." [PMID:22483320, PMID:25864701] is_a: HP:0025104 ! Capillary malformation property_value: dc:date "2016-10-28T23:53:08Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025107 name: Cutis marmorata telangiectatica congenita def: "A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible." [PMID:22483320, PMID:25864701] is_a: HP:0025104 ! Capillary malformation property_value: dc:date "2016-10-29T00:22:27Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025108 name: Angioma serpentinum def: "Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis." [PMID:25864701] comment: Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently assumed. is_a: HP:0025104 ! Capillary malformation property_value: dc:date "2016-10-29T00:31:03Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025109 name: Reduced red cell pyruvate kinase level def: "Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate." [PMID:7949104] synonym: "Reduced erythrocyte pyruvate kinase activity" EXACT [] is_a: HP:0030272 ! Abnormal erythrocyte enzyme concentration or activity property_value: dc:date "2016-10-29T00:37:18Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025110 name: Placoid macular lesion def: "Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula." [] is_a: HP:0030500 ! Yellow/white lesions of the macula property_value: dc:date "2016-11-01T01:20:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025112 name: Auditory sensitivity def: "Decreased tolerance to sound." [] comment: Sound sensitivity impliees a difficulty tolerating sounds which do not seem loud or unpleasant to others. synonym: "Noise sensitivity" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] is_a: HP:5200058 ! Sensory hypersensitivity property_value: dc:date "2016-11-01T01:30:30Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025113 name: Misophonia def: "Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors." [PMID:35682372] is_a: HP:5200060 ! Auditory hypersensitivity property_value: dc:date "2016-11-01T01:33:52Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0736-9199 property_value: terms:contributor https://orcid.org/0000-0002-4142-7153 property_value: terms:contributor https://orcid.org/0000-0002-4422-1708 property_value: terms:contributor https://orcid.org/0000-0003-3777-1389 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025114 name: Hypergranulosis def: "Hypergranulosis is an increased thickness of the stratum granulosum." [] comment: Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum. is_a: HP:0011368 ! Epidermal thickening property_value: dc:date "2016-11-01T01:48:14Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025115 name: Civatte bodies def: "Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant" [PMID:23919028] comment: The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist. synonym: "Colloid bodies" EXACT [] synonym: "Colloid bodies of Civatte" EXACT [] synonym: "Cytoid bodies" EXACT [] synonym: "Hyaline bodies" EXACT [] is_a: HP:0011124 ! Abnormal epidermal morphology property_value: dc:date "2016-11-01T01:58:56Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025116 name: Fetal distress def: "An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile." [] comment: Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible. synonym: "Foetal distress" EXACT uk_spelling [] is_a: HP:0034059 ! Abnormal fetal physiology property_value: dc:date "2016-11-01T10:13:06Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025117 name: Rete ridge flattening def: "Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance." [PMID:20548894] synonym: "Flattened rete pegs" EXACT [] synonym: "Flattened rete ridges" EXACT [] is_a: HP:0034767 ! Abnormal rete ridge morphology property_value: dc:date "2016-11-01T10:52:20Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025118 name: Lip discoloration def: "Lightening or darkening of the lips from their usual coloring." [] is_a: HP:0032453 ! Abnormal lip pigmentation property_value: dc:date "2016-11-01T11:25:02Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025119 name: Violet lip discoloration def: "An alteration of the color of the lip to take on a violet color. This term does not include cyanosis." [PMID:24346922] comment: This feature may be seen rarely as a paraneoplastic manifestation. is_a: HP:0025118 ! Lip discoloration property_value: dc:date "2016-11-01T11:25:57Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025121 name: obsolete Simple partial occipital seizures comment: Simple partial occipital seizures is being retired because the clinical manifestations used for seizure classification do not hold true to anatomical landmarks at this level of granularity. An additional dimension based on the anatomical onset of seizures would be too imprecise, and in many instances be incorrect. Whilst clinicians do still talk about a frontal/occipital/temporal/etc. lobe seizure, this is based on assumptions, typical features, or additional EEG or imaging findings. property_value: dc:date "2016-11-10T11:43:51Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0011165 [Term] id: HP:0025122 name: Sawtooth acanthosis def: "A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis." [PMID:19061615] synonym: "Sawtoothed acanthosis" EXACT [] is_a: HP:0025092 ! Epidermal acanthosis property_value: dc:date "2016-11-14T01:39:51Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025123 name: White streaks/specks on enamel. def: "Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks." [] is_a: HP:0011073 ! Abnormality of dental color property_value: dc:date "2016-11-14T01:47:26Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025124 name: Fragile teeth def: "A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma." [] synonym: "Enamel with tendency to chip" EXACT [] synonym: "Spontaneous tooth fracture" EXACT [] is_a: HP:0006482 ! Abnormal dental morphology property_value: dc:date "2016-11-14T01:53:11Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025125 name: White lesion of the oral mucosa def: "White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white." [] is_a: HP:0011830 ! Abnormal oral mucosa morphology property_value: dc:date "2016-11-14T02:08:04Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025126 name: Oral hairy leukoplakia def: "A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance." [] is_a: HP:0025125 ! White lesion of the oral mucosa property_value: dc:date "2016-11-14T02:15:28Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025127 name: Actinic keratosis def: "A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color." [] comment: Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin. synonym: "Solar keratosis" EXACT [] is_a: HP:0008069 ! Neoplasm of the skin property_value: dc:date "2016-11-14T02:23:13Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025128 name: Reduced intraabdominal adipose tissue def: "An abnormally reduced amount of adipose tissue in the abdominal cavity." [] is_a: HP:0040063 ! Decreased adipose tissue property_value: dc:date "2016-11-14T02:33:27Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025129 name: Abnormal small intestinal mucosa morphology def: "A structural anomaly of the mucous lining of the small intestine." [] is_a: HP:0002244 ! Abnormal small intestine morphology property_value: dc:date "2016-11-15T11:57:47Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025130 name: Decreased small intestinal mucosa lactase level def: "Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges." [] synonym: "Lactase deficiency" EXACT [] is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity is_a: HP:0025129 ! Abnormal small intestinal mucosa morphology property_value: dc:date "2016-11-15T12:01:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025131 name: Finger swelling def: "Enlargement of the soft tissues of one or more fingers." [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244] synonym: "Swelling of fingers" EXACT plural_form [] synonym: "Swollen finger" EXACT plural_form [] synonym: "Swollen fingers" EXACT [] is_a: HP:0001167 ! Abnormal finger morphology property_value: dc:date "2016-11-15T12:08:31Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025132 name: Abnormal circulating estrogen level def: "A deviation from normal concentration of the hormone estrogen in the blood circulation." [] comment: Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). synonym: "Abnormal circulating estrogen level" EXACT [] synonym: "Abnormal estrogen level" EXACT [] synonym: "Abnormal oestrogen level" EXACT uk_spelling [] is_a: HP:0033799 ! Abnormal circulating sex hormone concentration property_value: dc:date "2016-11-27T13:46:29Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025133 name: Abnormal serum estradiol def: "A deviation from normal concentrations of estradiol in the circulation." [] comment: Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens is_a: HP:0025132 ! Abnormal circulating estrogen level property_value: dc:date "2016-11-27T13:52:20Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025134 name: Increased serum estradiol def: "An elevation above normal limits of the concentration of estradiol in the circulation." [] synonym: "Increased estradiol level" EXACT [] synonym: "Increased serum oestradiol" EXACT [] is_a: HP:0025133 ! Abnormal serum estradiol property_value: dc:date "2016-11-27T14:09:28Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025135 name: Abnormal serum estriol def: "A deviation from normal concentration of estriol in the circulation." [] is_a: HP:0025132 ! Abnormal circulating estrogen level property_value: dc:date "2016-11-27T14:10:45Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025136 name: Increased serum estriol def: "An elevation above normal limits of estriol concentration in the circulation." [] is_a: HP:0025135 ! Abnormal serum estriol property_value: dc:date "2016-11-27T14:13:00Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025137 name: Decreased serum estriol def: "A reduction below normal limits of estriol in the circulation." [] is_a: HP:0025135 ! Abnormal serum estriol property_value: dc:date "2016-11-27T14:13:33Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025138 name: Abnormal serum estrone def: "A deviation from the normal concentration of circulating estrone." [] is_a: HP:0025132 ! Abnormal circulating estrogen level property_value: dc:date "2016-11-27T14:14:35Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025139 name: Increased serum estrone def: "An elevation above normal limits of the concentration of estrone in the circulation." [] is_a: HP:0025138 ! Abnormal serum estrone property_value: dc:date "2016-11-27T14:15:18Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025140 name: Decreased serum estrone def: "A reduction below normal limits of the concentration of estrone in the circulation." [] is_a: HP:0025138 ! Abnormal serum estrone property_value: dc:date "2016-11-27T14:15:48Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025141 name: Gingival calcification def: "Ectopic deposition of calcium salts found in the gingiva." [PMID:25928877] synonym: "Gingival calcifications" EXACT [] is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0010766 ! Ectopic calcification property_value: dc:date "2016-11-27T14:27:44Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025142 name: Constitutional symptom def: "A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual." [] comment: Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. is_a: HP:0000118 ! Phenotypic abnormality property_value: dc:date "2016-11-29T11:02:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025143 name: Chills def: "A sudden sensation of feeling cold." [] comment: The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold. synonym: "Chills" EXACT layperson [] is_a: HP:0025142 ! Constitutional symptom property_value: dc:date "2016-11-29T11:10:01Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025144 name: Shivering def: "Involuntary contraction or twitching of the muscles." [] comment: Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold. synonym: "Shivering" EXACT layperson [] synonym: "Shuddering" EXACT layperson [] is_a: HP:0025142 ! Constitutional symptom property_value: dc:date "2016-11-29T11:13:35Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025145 name: Rigors def: "Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever." [] comment: A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection. synonym: "Rigours" EXACT uk_spelling [] is_a: HP:0025143 ! Chills is_a: HP:0025144 ! Shivering property_value: dc:date "2016-11-29T11:15:45Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025146 name: Foveal degeneration def: "Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina." [] is_a: HP:0000493 ! Abnormal foveal morphology is_a: HP:0000608 ! Macular degeneration property_value: dc:date "2016-11-29T11:24:05Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025147 name: Beaten bronze macular sheen def: "A shiny appearance of the macula, which is often called a beaten bronze appearance." [] comment: This feature may be seen in Stargardt disease. synonym: "Beaten metal macular appearance" EXACT [] synonym: "Beaten-bronze macular appearance" EXACT [] synonym: "Beaten-bronze macular sheen" EXACT [] is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: dc:date "2016-11-29T11:37:39Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025148 name: Dark choroid def: "A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid)." [PMID:27739528, PMID:7248243] comment: The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells. is_a: HP:0000610 ! Abnormal choroid morphology property_value: dc:date "2016-11-29T11:49:16Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025149 name: Atrophic muscularis propria def: "Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis." [PMID:18329691] synonym: "Autonomic visceral myopathy" RELATED [] synonym: "Degenerative enteric myopathy" RELATED [] is_a: HP:0030935 ! Abnormal intestinal smooth muscle morphology property_value: dc:date "2016-12-03T14:04:10Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025150 name: Hypoganglionosis def: "Sparse and small myenteric ganglia" [] comment: Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines. is_a: HP:0004362 ! Abnormal enteric ganglion morphology property_value: dc:date "2016-12-03T14:28:39Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025151 name: Ganglioneuromatosis def: "Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers." [PMID:26361414] is_a: HP:0004362 ! Abnormal enteric ganglion morphology property_value: dc:date "2016-12-03T14:36:23Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025152 name: Poor visual behavior for age def: "Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones." [] comment: A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function. synonym: "Abnormal visual behavior for age" EXACT [] synonym: "Abnormal visual behaviour for age" EXACT uk_spelling [] synonym: "Poor visual behavior for age" EXACT [] is_a: HP:0000504 ! Abnormality of vision property_value: dc:date "2016-12-03T21:34:47Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025153 name: Transient def: "Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration." [] is_a: HP:0011008 ! Temporal pattern property_value: dc:date "2016-12-03T22:19:26Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025154 name: Portosystemic collateral veins def: "Presence of biliary veins that serve as a collateral channel to the systemic circulation" [] comment: Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases. synonym: "Collateral biliary circulation" EXACT [] synonym: "Collateral biliary veins" EXACT [] is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: dc:date "2016-12-03T22:24:40Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025155 name: Abnormal hepatobiliary system physiology def: "A functional anomaly of the hepatobiliary system" [] is_a: HP:0025032 ! Abnormality of digestive system physiology property_value: dc:date "2016-12-04T12:05:04Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025156 name: Dependency on intravenous nutrition def: "Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status." [PMID:16770168] comment: Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder. synonym: "Dependency on IV nutrition" EXACT abbreviation [] is_a: HP:0025032 ! Abnormality of digestive system physiology property_value: dc:date "2016-12-04T12:14:59Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025157 name: Increased urinary sedoheptulose def: "An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group." [] is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: dc:date "2016-12-04T12:36:02Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025158 name: Hyperautofluorescent retinal lesion def: "Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging." [] synonym: "Retinal lipofuscin accumulation" RELATED [] is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging property_value: dc:date "2016-12-04T12:53:55Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025159 name: Hypoautofluorescent retinal lesion def: "Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging." [] synonym: "Hypo-autofluorescent retinal lesion" EXACT [] is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging property_value: dc:date "2016-12-04T12:54:44Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025160 name: Abnormal temper tantrums def: "Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums." [] is_a: HP:5200241 ! Recurrent maladaptive behavior property_value: dc:date "2016-12-04T12:59:10Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025161 name: Frequent temper tantrums def: "Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process." [] is_a: HP:0025160 ! Abnormal temper tantrums property_value: dc:date "2016-12-04T13:05:18Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025162 name: Severe temper tantrums def: "Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process." [] is_a: HP:0025160 ! Abnormal temper tantrums property_value: dc:date "2016-12-04T13:05:46Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0002-1111-7357 property_value: terms:contributor https://orcid.org/0000-0002-7954-5235 property_value: terms:contributor https://orcid.org/0000-0003-2897-0458 property_value: terms:contributor https://orcid.org/0000-0003-4298-5074 property_value: terms:contributor https://orcid.org/0000-0003-4618-6544 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025163 name: Abnormal optic chiasm morphology def: "A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves." [] synonym: "Abnormality of optic chiasm morphology" EXACT [] is_a: HP:0000587 ! Abnormal optic nerve morphology property_value: dc:date "2016-12-04T13:12:19Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025164 name: Increased number of elastic fibers in the dermis def: "An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods." [PMID:25072684] synonym: "Increased number of elastic fibres in the dermis" EXACT uk_spelling [] is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology property_value: dc:date "2016-12-04T13:43:21Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025165 name: Clumping of elastic fibers in the dermis def: "Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis)." [PMID:25072684] synonym: "Clumping of elastic fibres in the dermis" EXACT uk_spelling [] is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology property_value: dc:date "2016-12-04T13:50:37Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025166 name: Thickened elastic fibers in the dermis def: "An increase of the diameter of elastic fibers in the dermis." [] synonym: "Thickened elastic fibres in the dermis" EXACT uk_spelling [] is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology property_value: dc:date "2016-12-04T13:54:31Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025167 name: Fragmented elastic fibers in the dermis def: "Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers." [] synonym: "Fragmented elastic fibres in the dermis" EXACT uk_spelling [] is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology property_value: dc:date "2016-12-04T13:56:23Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025168 name: Left ventricular diastolic dysfunction def: "Abnormal function of the left ventricule during left ventricular relaxation and filling." [PMID:12527689, PMID:14594874] comment: Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging. is_a: HP:0005162 ! Abnormal left ventricular function property_value: dc:date "2016-12-04T14:01:20Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025169 name: Left ventricular systolic dysfunction def: "Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent." [] is_a: HP:0005162 ! Abnormal left ventricular function property_value: dc:date "2016-12-04T14:07:53Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025170 name: Neuronal/glioneuronal neoplasm of the central nervous system def: "A central nervous system neoplasm with neuronal and, less consistently, glial differentiation." [] synonym: "Glioneuronal tumor" EXACT [] synonym: "Glioneuronal tumour" EXACT uk_spelling [] synonym: "Neuronal and mixed neuronal-glial tumor" EXACT [] synonym: "Neuronal and mixed neuronal-glial tumour" EXACT uk_spelling [] synonym: "Neuronal/glioneuronal neoplasm of the CNS" EXACT abbreviation [] is_a: HP:0030063 ! Neuroepithelial neoplasm is_a: HP:0100006 ! Neoplasm of the central nervous system property_value: dc:date "2016-12-04T14:30:29Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025171 name: Rosette-forming glioneuronal tumor def: "A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy." [PMID:27179225] synonym: "Rosette-forming glioneuronal neoplasm" EXACT [] synonym: "Rosette-forming glioneuronal tumor" EXACT [] synonym: "Rosette-forming glioneuronal tumor of the fourth ventricle" RELATED [] synonym: "Rosette-forming glioneuronal tumour of the fourth ventricle" RELATED uk_spelling [] is_a: HP:0025170 ! Neuronal/glioneuronal neoplasm of the central nervous system property_value: dc:date "2016-12-04T14:35:51Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025172 name: Smooth septal thickening on pulmonary HRCT def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa." [] is_a: HP:0030879 ! Interlobular septal thickening property_value: dc:date "2016-12-04T19:28:49Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025173 name: Nodular septal thickening on pulmonary HRCT def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa." [] is_a: HP:0030879 ! Interlobular septal thickening property_value: dc:date "2016-12-04T19:30:08Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025174 name: Irregular septal thickening on pulmonary HRCT def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture." [] is_a: HP:0030879 ! Interlobular septal thickening property_value: dc:date "2016-12-04T19:31:03Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025175 name: Honeycomb lung def: "Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care." [PMID:18195376] comment: Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis. synonym: "Honeycomb cysts" EXACT [] synonym: "Honeycombing" EXACT [] is_a: HP:0005948 ! Multiple pulmonary cysts is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology property_value: dc:date "2016-12-04T19:34:18Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025176 name: Intralobular interstitial thickening def: "A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance." [] is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology property_value: dc:date "2016-12-04T19:39:14Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025177 name: Peribronchovascular interstitial thickening def: "Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography." [] is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology property_value: dc:date "2016-12-04T19:41:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025178 name: Subpleural interstitial thickening def: "Increase in thickness of the subpleural interstitium." [] comment: Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening. synonym: "Subpleural scarring" EXACT [] is_a: HP:0031630 ! Abnormal subpleural morphology property_value: dc:date "2016-12-04T19:44:43Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025179 name: Ground-glass opacification def: "On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured." [PMID:18195376, PMID:23247773] comment: Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease. See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. synonym: "GGO" EXACT abbreviation [] synonym: "Ground glass opacities" EXACT [] synonym: "Ground-glass opacification on pulmonary HRCT" NARROW [] is_a: HP:0031457 ! Pulmonary opacity property_value: dc:date "2016-12-04T19:55:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025180 name: Centrilobular ground-glass opacification on pulmonary HRCT def: "A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules." [] synonym: "Centrilobular groundglass opacification" EXACT [] synonym: "Centrilobular groundglass opacity" EXACT [] is_a: HP:0025179 ! Ground-glass opacification property_value: dc:date "2016-12-04T19:57:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025181 name: Abdominal aseptic abscess def: "An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently." [PMID:22526827] is_a: HP:0001438 ! Abnormal abdomen morphology property_value: dc:date "2016-12-04T20:11:28Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025182 name: Localized area of pendulous skin def: "A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region." [] synonym: "Localised area of pendulous skin" EXACT uk_spelling [] is_a: HP:0008067 ! Abnormally lax or hyperextensible skin property_value: dc:date "2016-12-04T21:29:56Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025186 name: Marcus Gunn jaw winking synkinesis def: "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing." [PMID:23345532, PMID:25754805] synonym: "Marcus Gunn jaw-winking syndrome" EXACT [] synonym: "Pterygoid-levator synkinesis" EXACT [] synonym: "Trigemino-oculomotor synkinesis" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement property_value: dc:date "2016-12-04T22:17:24Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025188 name: Retinal vasculitis def: "Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion." [] comment: This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment. is_a: HP:0008046 ! Abnormal retinal vascular morphology property_value: dc:date "2016-12-04T22:37:03Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025190 name: Bilateral tonic-clonic seizure with generalized onset def: "A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure." [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275] synonym: "Bilateral tonic-clonic seizure with generalised onset" EXACT uk_spelling [] synonym: "Generalised tonic-clonic seizure without focal onset" EXACT [] synonym: "Generalised tonic-clonic seizure without partial onset" EXACT [] synonym: "Generalised tonic-clonic seizures without focal onset" EXACT [] synonym: "Generalised-onset tonic-clonic seizure" EXACT [] synonym: "Generalized tonic-clonic seizure without focal onset" EXACT [] synonym: "Generalized tonic-clonic seizure without partial onset" EXACT [] synonym: "Generalized tonic-clonic seizures without focal onset" EXACT [] synonym: "Generalized-onset tonic-clonic seizure" EXACT [] synonym: "Primarily generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Primarily generalized tonic-clonic seizures" EXACT [] synonym: "Primary generalised tonic-clonic seizure" EXACT uk_spelling [] synonym: "Primary generalised tonic-clonic seizures" EXACT uk_spelling [] synonym: "Primary generalized tonic-clonic seizure" EXACT [] synonym: "Primary generalized tonic-clonic seizures" EXACT [] is_a: HP:0002069 ! Bilateral tonic-clonic seizure is_a: HP:0032677 ! Generalized-onset motor seizure property_value: dc:date "2016-12-04T22:50:21Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025191 name: obsolete Segmental myoclonic seizures property_value: dc:date "2016-12-04T23:02:24Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0011166 [Term] id: HP:0025192 name: Subtentorial periventricular white matter hyperdensity def: "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum)." [] is_a: HP:0030891 ! Periventricular white matter hyperintensities property_value: dc:date "2016-12-04T23:09:22Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025193 name: Posterolateral diaphragmatic hernia def: "A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity." [] synonym: "Bochdalek hernia" EXACT [] is_a: HP:0000776 ! Congenital diaphragmatic hernia property_value: dc:date "2016-12-05T01:51:30Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025194 name: Morgagni diaphragmatic hernia def: "An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity." [] comment: Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period. synonym: "Morgagni hernia" EXACT [] is_a: HP:0000776 ! Congenital diaphragmatic hernia property_value: dc:date "2016-12-05T01:55:27Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025195 name: Central diaphragmatic hernia def: "A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present." [] synonym: "Central hernia" EXACT [] is_a: HP:0000776 ! Congenital diaphragmatic hernia property_value: dc:date "2016-12-05T01:57:20Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025196 name: Increased total iron binding capacity def: "An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity." [PMID:3542299] comment: Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states. is_a: HP:0033212 ! Abnormal total iron binding capacity property_value: dc:date "2016-12-05T02:10:17Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025197 name: Inclusion body fibromatosis def: "A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration." [NCIT:C3456, PMID:27684985] synonym: "Digital fibrous tumor of Reye" EXACT [] synonym: "Digital fibrous tumour of Reye" EXACT uk_spelling [] synonym: "Infantile digital fibroma" EXACT [] synonym: "Infantile digital fibromatosis" EXACT [] is_a: HP:0012316 ! Fibrous tissue neoplasm property_value: dc:date "2016-12-05T11:28:28Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025198 name: Inflammatory cap polyp def: "A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp." [] comment: The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine. is_a: HP:0005266 ! Intestinal polyp property_value: dc:date "2016-12-05T11:49:57Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025200 name: Muscle fiber actin filament accumulation def: "Accumulation in muscle cells of filaments composed of actin." [] synonym: "Muscle fibre actin filament accumulation" EXACT uk_spelling [] is_a: HP:0100299 ! Muscle fiber inclusion bodies property_value: dc:date "2016-12-06T03:05:47Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025201 name: Abnormal circulating apolipoprotein concentration def: "A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation." [] synonym: "Abnormal apolipoprotein level" EXACT [] is_a: HP:0010876 ! Abnormal circulating protein concentration property_value: dc:date "2016-12-10T12:53:01Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025202 name: Elevated circulating apolipoprotein A-IV concentration def: "An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II." [] synonym: "Elevated apolipoprotein A-IV level" EXACT [] is_a: HP:0033460 ! Increased circulating apolipoprotein circulation property_value: dc:date "2016-12-10T12:56:05Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025203 name: Caput medusae def: "Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins." [PMID:26112857] comment: Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction. See figure 2 in PMID: 29089832. synonym: "Palm tree sign" EXACT [] is_a: HP:0030168 ! Dilated superficial abdominal veins property_value: dc:date "2016-12-10T13:11:24Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025204 name: Triggered by def: "A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation." [] is_a: HP:0012823 ! Clinical modifier property_value: dc:date "2016-12-10T13:33:36Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025205 name: Triggered by breast feeding def: "Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant." [] synonym: "Breastfeeding triggered symptoms" EXACT [] synonym: "Triggered by breastfeeding" EXACT layperson [] is_a: HP:0033793 ! Triggered by food ingestion property_value: dc:date "2016-12-10T13:41:09Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025206 name: Triggered by cold def: "Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings." [] synonym: "Cold triggered symptoms" EXACT [] synonym: "Triggered by cold temperature" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T13:44:40Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025207 name: Triggered by dehydration def: "Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water." [] synonym: "Dehydration triggered symptoms" EXACT [] synonym: "Triggered by dehydration" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T13:45:29Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025208 name: Triggered by carbohydrate ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates." [] synonym: "Carbohydrate ingestion triggered symptoms" EXACT [] synonym: "Triggered by carbohydrate ingestion" EXACT layperson [] is_a: HP:0033793 ! Triggered by food ingestion property_value: dc:date "2016-12-10T13:46:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025209 name: Triggered by fructose ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose." [] synonym: "Triggered by fruit sugar" EXACT layperson [] is_a: HP:0025208 ! Triggered by carbohydrate ingestion property_value: dc:date "2016-12-10T13:48:19Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025210 name: Triggered by glucose ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose." [] is_a: HP:0025208 ! Triggered by carbohydrate ingestion property_value: dc:date "2016-12-10T13:48:59Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025211 name: Triggered by ethanol ingestion def: "Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol." [] synonym: "Ethanol ingestion triggered symptoms" EXACT [] synonym: "Triggered by alcohol ingestion" BROAD layperson [] is_a: HP:0033793 ! Triggered by food ingestion property_value: dc:date "2016-12-10T13:50:14Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025212 name: Triggered by fasting def: "Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting)." [] synonym: "Fasting triggered attacks" EXACT [] synonym: "Fasting triggered symptoms" EXACT [] synonym: "Triggered by fasting" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T13:50:53Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025213 name: Triggered by galactose ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose." [] synonym: "Triggered by ingestion of lactose-containing milk" EXACT layperson [] is_a: HP:0025208 ! Triggered by carbohydrate ingestion property_value: dc:date "2016-12-10T13:51:49Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025214 name: Triggered by heat def: "Applies to a sign or symptom that is provoked or brought about by exposure to heat." [] synonym: "Heat triggered symptoms" EXACT [] synonym: "Triggered by heat" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T13:59:21Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025215 name: Triggered by febrile illness def: "Applies to a sign or symptom that is provoked or brought about by febrile illness." [] synonym: "Febrile illness triggered symptoms" EXACT [] synonym: "Triggered by fever" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:00:39Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025216 name: Triggered by heavy meal def: "Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal." [] synonym: "Heavy meal triggered symptoms" EXACT [] synonym: "Triggered by overeating" EXACT layperson [] is_a: HP:0033793 ! Triggered by food ingestion property_value: dc:date "2016-12-10T14:01:22Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025217 name: Triggered by high-fat diet def: "Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids." [] synonym: "High-fat diet triggered symptoms" EXACT [] synonym: "Triggered by high-fat diet" EXACT layperson [] is_a: HP:0033793 ! Triggered by food ingestion property_value: dc:date "2016-12-10T14:02:17Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025218 name: Triggered by hyperventilation def: "Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing." [] synonym: "Hyperventilation triggered symptoms" EXACT [] synonym: "Triggered by hyperventilation" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:02:50Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025219 name: Triggered by vaccination def: "Applies to a sign or symptom that is provoked or brought about by a vaccination." [PMID:26633955] synonym: "Triggered by immunisation" EXACT uk_spelling [] synonym: "Triggered by immunization" EXACT [] synonym: "Triggered by vaccination" EXACT layperson [] synonym: "Vaccination triggered symptoms" EXACT [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:04:16Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025220 name: Triggered by menstruation def: "Applies to a sign or symptom that is provoked or brought about by menstruation in a female." [] synonym: "Menstruation triggered symptoms" EXACT [] synonym: "Triggered by monthly period" EXACT layperson [] synonym: "Triggered by period" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:05:58Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025221 name: Triggered by pregnancy def: "Applies to a sign or symptom that is provoked or brought about by pregnancy in a female." [] synonym: "Pregnancy triggered symptoms" EXACT [] synonym: "Triggered by pregnancy" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:06:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025222 name: Triggered by sleep deprivation def: "Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep." [] synonym: "Sleep deprivation triggered symptoms" EXACT [] synonym: "Triggered by sleep deprivation" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:07:29Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025223 name: Triggered by smoking def: "Applies to a sign or symptom that is provoked or brought about by smoking." [] synonym: "Smoking triggered symptoms" EXACT [] synonym: "Triggered by cigarette consumption" EXACT layperson [] synonym: "Triggered by smoking" EXACT layperson [] synonym: "Triggered by tobacco use" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:07:58Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025224 name: Triggered by sodium ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium." [] synonym: "Sodium ingestion triggered symptoms" EXACT [] synonym: "Sodium intake triggered attacks" EXACT [] synonym: "Triggered by Na ingestion" EXACT abbreviation [] synonym: "Triggered by Na+ ingestion" EXACT abbreviation [] synonym: "Triggered by salt ingestion" NARROW layperson [] synonym: "Triggered by sodium intake" EXACT [] is_a: HP:0033793 ! Triggered by food ingestion property_value: dc:date "2016-12-10T14:08:50Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025225 name: Triggered by sound def: "Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise." [] comment: For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech. synonym: "Sound triggered symptoms" EXACT [] synonym: "Triggered by sound" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:09:30Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025226 name: Triggered by stress def: "Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension." [] synonym: "Stress triggered symptoms" EXACT [] synonym: "Triggered by stress" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:24:37Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025227 name: Triggered by excitement def: "Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled." [] synonym: "Excitement triggered symptoms" EXACT [] synonym: "Triggered by excitement" EXACT layperson [] synonym: "Triggered by startle" RELATED [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:28:21Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025228 name: Triggered by sudden movement def: "Applies to a sign or symptom that is provoked or brought about by a sudden movement." [] synonym: "Kinesigenic" EXACT [] synonym: "Sudden movement triggered symptoms" EXACT [] synonym: "Triggered by sudden movement" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:29:50Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025229 name: Triggered by vestibular stimulation def: "Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair." [] synonym: "Vestibular stimulation triggered attacks" EXACT [] synonym: "Vestibular stimulation triggered symptoms" EXACT [] is_a: HP:0025204 ! Triggered by property_value: dc:date "2016-12-10T14:30:38Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025230 name: Tendonitis def: "Inflammation of a tendon." [] synonym: "Teninitis" EXACT [] is_a: HP:0100261 ! Abnormal tendon morphology property_value: dc:date "2016-12-14T11:20:22Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025231 name: Abnormal synovial bursa morphology def: "A structural anomaly of a synovial bursa, which is a synovium-lined, sac-like structure found throughout the body near bony prominences and between bones, muscles, tendons, and ligaments. The bursa itself is a synovial lining that represents a potential space insofar as it is collapsed upon itself until a resulting trigger causes the bursa to become irritated and fill with synovial fluid." [PMID:30020712] comment: A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip. We include abnormal synovial fluid findings (which are generally assessed by bursa aspiration) in this subhierarchy. A synovial bursa contains bursa fluid, which is essentially a synovial-like fluid produced by the synovial lining of the bursa. synonym: "Abnormality of synovial bursa morphology" EXACT [] is_a: HP:0001367 ! Abnormal joint morphology property_value: dc:date "2016-12-14T11:29:35Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025232 name: Bursitis def: "Inflammation of a synovial bursa." [] is_a: HP:0025231 ! Abnormal synovial bursa morphology property_value: dc:date "2016-12-14T11:33:51Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025233 name: Sleep paralysis def: "An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes." [PMID:32965993] synonym: "Inability to move or speak" EXACT [] is_a: HP:5200293 ! Disturbance during transitions between sleep and wake states is_a: HP:5200299 ! REM parasomnia is_a: HP:5200300 ! Abnormal movement during sleep property_value: dc:date "2016-12-14T11:44:36Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025234 name: Parasomnia def: "An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep." [PMID:35956054] synonym: "Event that disrupts sleep" EXACT [] is_a: HP:0002360 ! Sleep abnormality property_value: dc:date "2016-12-14T11:50:48Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025235 name: NREM parasomnia def: "A parasomnia that occurs during non-rapid eye movement (NREM) sleep." [PMID:31375204] comment: NREM parasomnias typically occur within a few hours after the onset of sleep. Episodes can last from a few minutes to as long as 30-40 minutes and are characterized by amnesia for the event. synonym: "Disturbance in NREM" EXACT [] synonym: "Non-rapid eye movement parasomnia" EXACT [] synonym: "NREM parasomnia" EXACT [] is_a: HP:0025234 ! Parasomnia property_value: dc:date "2016-12-14T11:55:11Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025236 name: Somnambulism def: "Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated." [PMID:30458142, PMID:32644427] comment: During an episode of sleepwalking, the somnambulating child typically appears clumsy and might perform unusual actions, such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or when leaving the house. synonym: "Sleep walking" EXACT layperson [https://orcid.org/0000-0002-0736-9199] is_a: HP:0025235 ! NREM parasomnia is_a: HP:5200300 ! Abnormal movement during sleep property_value: dc:date "2016-12-14T12:01:00Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025237 name: Confusional arousal def: "A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings." [PMID:35985125] comment: These characteristics might present as agitation, crying, or moaning, disorientation, and particularly slow mentation upon arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 minutes, but they might last up to several hours. synonym: "Disoriented" EXACT [] synonym: "Slow speech or confused thinking upon waking" EXACT [] synonym: "Unresponsive" EXACT [] is_a: HP:5200297 ! Abnormal hypnopompia property_value: dc:date "2016-12-14T12:07:36Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025238 name: Foot pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot." [] synonym: "Foot pain" EXACT layperson [] is_a: HP:0012514 ! Lower limb pain property_value: dc:date "2016-12-16T11:55:08Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025239 name: Subhyaloid hemorrhage def: "A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area." [PMID:27090882] comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. synonym: "Subhyaloid haemorrhage" EXACT uk_spelling [] synonym: "Subhyaloid heme" EXACT [] is_a: HP:0025240 ! Preretinal hemorrhage property_value: dc:date "2016-12-17T00:34:43Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025240 name: Preretinal hemorrhage def: "An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [https://orcid.org/0000-0003-0986-4123] comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. synonym: "Preretinal haemorrhage" EXACT uk_spelling [] synonym: "Preretinal heme" EXACT [] is_a: HP:0031803 ! Fundus hemorrhage property_value: dc:date "2016-12-17T00:54:15Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025241 name: Flame-shaped retinal hemorrhage def: "A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells)." [] comment: Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure. synonym: "Feathered retinal heme" EXACT [] synonym: "Flame-shaped retinal haemorrhage" EXACT uk_spelling [] synonym: "Linear retina heme" EXACT [] is_a: HP:0031805 ! Intraretinal hemorrhage property_value: dc:date "2016-12-17T01:14:14Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025242 name: Dot-and-blot retinal hemorrhage def: "Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location." [] comment: Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages. synonym: "Dot-and-blot retinal haemorrhage" EXACT uk_spelling [] synonym: "Round retinal heme" EXACT [] is_a: HP:0031805 ! Intraretinal hemorrhage property_value: dc:date "2016-12-17T01:25:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025243 name: Subretinal hemorrhage def: "Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium." [] comment: Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread. synonym: "Subretinal haemorrhage" EXACT uk_spelling [] synonym: "Subretinal heme" EXACT [] is_a: HP:0000573 ! Retinal hemorrhage property_value: dc:date "2016-12-17T01:29:29Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025244 name: Subretinal pigment epithelium hemorrhage def: "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane." [] synonym: "Subretinal pigment epithelium haemorrhage" EXACT uk_spelling [] is_a: HP:0000573 ! Retinal hemorrhage property_value: dc:date "2016-12-17T01:39:54Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025245 name: Cutaneous cyst def: "A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material." [] comment: In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated. synonym: "Skin cyst" EXACT layperson [] is_a: HP:0011355 ! Localized skin lesion property_value: dc:date "2016-12-17T13:11:37Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025246 name: Trichilemmal cyst def: "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous." [] comment: Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. synonym: "Pilar cyst" EXACT [] is_a: HP:0025245 ! Cutaneous cyst property_value: dc:date "2016-12-17T13:45:04Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025247 name: Dermoid cyst def: "A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm." [] comment: Hair protruding from a dermoid cyst punctum is pathognomic for dermoid cysts. is_a: HP:0025245 ! Cutaneous cyst property_value: dc:date "2016-12-17T13:49:23Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025248 name: Eruptive vellus hair cyst def: "A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge." [] comment: Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles. is_a: HP:0025245 ! Cutaneous cyst property_value: dc:date "2016-12-17T13:52:25Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025249 name: Comedo def: "A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle)." [] is_a: HP:0011355 ! Localized skin lesion property_value: dc:date "2016-12-17T13:56:03Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025250 name: Closed comedo def: "A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead." [] synonym: "Whitehead" EXACT layperson [https://orcid.org/0000-0002-0736-9199] is_a: HP:0025249 ! Comedo property_value: dc:date "2016-12-17T13:57:50Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025251 name: Open comedo def: "A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black." [] synonym: "Blackhead" EXACT layperson [https://orcid.org/0000-0002-0736-9199] is_a: HP:0025249 ! Comedo property_value: dc:date "2016-12-17T14:04:52Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025252 name: Geographic tongue def: "An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map." [PMID:32119353] synonym: "Annulus migrans" EXACT [] synonym: "Benign migratory glossitis" EXACT [] synonym: "Glossitis areata exfoliativa" EXACT [] synonym: "Lingual erythema migrans" EXACT [] synonym: "Wandering rash of the tongue" EXACT [] is_a: HP:0030809 ! Abnormal tongue morphology property_value: dc:date "2016-12-17T14:09:31Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025253 name: Claustrophobia def: "An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia." [] is_a: HP:5200232 ! Phobia property_value: dc:date "2016-12-17T14:14:59Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0692-412X property_value: terms:contributor https://orcid.org/0000-0002-7405-0954 property_value: terms:contributor https://orcid.org/0000-0003-0072-5522 property_value: terms:contributor https://orcid.org/0000-0003-0224-647X property_value: terms:contributor https://orcid.org/0000-0003-3398-7270 property_value: terms:contributor https://orcid.org/0009-0004-0873-4444 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025254 name: Ameliorated by def: "An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable" [] synonym: "Improved by" EXACT [] is_a: HP:0012823 ! Clinical modifier property_value: dc:date "2016-12-17T14:17:46Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025255 name: Ameliorated by pregnancy def: "Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female." [] synonym: "Pregnancy relieves symptoms" EXACT [] is_a: HP:0025254 ! Ameliorated by property_value: dc:date "2016-12-17T14:19:29Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025256 name: Ameliorated by heat def: "Applies to a sign or symptom that is improved or made more bearable by heat (including fever)." [] synonym: "Fever improves condition" NARROW [] synonym: "Heat improves condition" EXACT [] synonym: "Heat improves symptom" EXACT [] is_a: HP:0025254 ! Ameliorated by property_value: dc:date "2016-12-17T14:20:45Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025257 name: Ameliorated by carbohydrate ingestion def: "Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar)." [] is_a: HP:0025254 ! Ameliorated by property_value: dc:date "2016-12-17T14:21:33Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025258 name: Stiff neck def: "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side." [] synonym: "Neck stiffness" EXACT layperson [] synonym: "Stiff neck" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness is_a: HP:0005986 ! Limitation of neck motion property_value: dc:date "2016-12-18T01:06:15Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025259 name: Stiff elbow def: "A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity." [] synonym: "Elbow stiffness" EXACT layperson [] synonym: "Stiff elbow" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: dc:date "2016-12-18T01:11:24Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025260 name: Stiff wrist def: "A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity." [] synonym: "Stiff wrist" EXACT layperson [] synonym: "Wrist stiffness" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: dc:date "2016-12-18T01:12:32Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025261 name: Stiff finger def: "A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity." [] synonym: "Finger stiffness" EXACT layperson [] synonym: "Stiff finger" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: dc:date "2016-12-18T01:13:47Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025262 name: Stiff hip def: "A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity." [] synonym: "Hip stiffness" EXACT layperson [] synonym: "Stiff hip" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: dc:date "2016-12-18T01:15:11Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025263 name: Stiff knee def: "A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity." [] synonym: "Knee stiffness" EXACT layperson [] synonym: "Stiff knee" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: dc:date "2016-12-18T01:16:12Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025264 name: Stiff ankle def: "A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity." [] synonym: "Ankle stiffness" EXACT layperson [] synonym: "Stiff ankle" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: dc:date "2016-12-18T01:17:12Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025265 name: Stiff toe def: "A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity." [] synonym: "Stiff toe" EXACT layperson [] synonym: "Toe stiffness" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: dc:date "2016-12-18T01:18:04Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025266 name: obsolete Cervical osteoarthritis property_value: dc:date "2016-12-18T01:33:11Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 is_obsolete: true replaced_by: HP:0008480 [Term] id: HP:0025267 name: Snoring def: "Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping." [PMID:35216759] synonym: "Snore" EXACT [] synonym: "Snores" EXACT [] synonym: "Snoring symptoms" EXACT [] is_a: HP:5200283 ! Sleep-related breathing disorders property_value: dc:date "2016-12-18T13:24:58Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-6262-8264 property_value: terms:contributor https://orcid.org/0000-0001-9446-5121 property_value: terms:contributor https://orcid.org/0000-0002-1592-0825 property_value: terms:contributor https://orcid.org/0000-0002-4672-4923 property_value: terms:contributor https://orcid.org/0000-0002-5554-6946 property_value: terms:contributor https://orcid.org/0000-0002-7367-663X property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025268 name: Stuttering def: "Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds." [] synonym: "Stammering" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Stuttering" EXACT layperson [] is_a: HP:0002167 ! Abnormal speech pattern property_value: dc:date "2016-12-18T13:27:31Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025269 name: Panic attack def: "A sudden episode of intense fear in a situation where there is no danger or apparent cause." [] comment: The panic attack is accompanied by symptoms such as palpitations, sweating, and chills or hot flushes. There may be a sensation of dyspnea (feeling out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying. synonym: "Panic attack" EXACT layperson [] is_a: HP:0000739 ! Anxiety property_value: dc:date "2016-12-18T13:34:22Z" xsd:dateTime property_value: terms:contributor https://orcid.org/0000-0001-8430-6039 property_value: terms:contributor https://orcid.org/0000-0002-0692-412X property_value: terms:contributor https://orcid.org/0000-0002-7405-0954 property_value: terms:contributor https://orcid.org/0000-0003-0072-5522 property_value: terms:contributor https://orcid.org/0000-0003-0224-647X property_value: terms:contributor https://orcid.org/0000-0003-3398-7270 property_value: terms:contributor https://orcid.org/0009-0004-0873-4444 property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025270 name: Abnormal esophagus physiology def: "Any physiological abnormality of the esophagus." [] synonym: "Abnormality of esophagus physiology" EXACT [] synonym: "Abnormality of oesophagus physiology" EXACT uk_spelling [] synonym: "Functional abnormality of the esophagus" EXACT [] synonym: "Functional abnormality of the oesophagus" EXACT uk_spelling [] is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: dc:date "2016-12-18T13:39:06Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025271 name: Esophageal spasms def: "Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful." [] is_a: HP:0025270 ! Abnormal esophagus physiology property_value: dc:date "2016-12-18T13:45:05Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025272 name: Melasma def: "Symmetrical, blotchy, brownish facial pigmentation." [] comment: Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes. synonym: "Chloasma" EXACT [] synonym: "Facial melanosis" EXACT [] is_a: HP:0000953 ! Hyperpigmentation of the skin property_value: dc:date "2016-12-18T13:48:05Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025273 name: Achilles tendonitis def: "Inflammation of the Achilles tendon." [] is_a: HP:0025230 ! Tendonitis property_value: dc:date "2016-12-18T13:52:07Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025274 name: Ovarian dermoid cyst def: "An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others." [] synonym: "Mature cystic ovarian teratoma" EXACT [] is_a: HP:0000138 ! Ovarian cyst is_a: HP:0012226 ! Ovarian teratoma property_value: dc:date "2016-12-18T13:56:16Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025275 name: Lateral def: "Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure." [] is_a: HP:0012836 ! Spatial pattern property_value: dc:date "2016-12-18T14:47:04Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025276 name: Abnormality of skin adnexa physiology def: "Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [] is_a: HP:0001574 ! Abnormality of the integument property_value: dc:date "2016-12-18T14:51:16Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025277 name: Gustatory sweating def: "Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating)." [PMID:22798976] is_a: HP:0025276 ! Abnormality of skin adnexa physiology property_value: dc:date "2016-12-18T15:12:09Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025278 name: Cold-induced sweating def: "Sweating provoked by cold temperature rather than by heat." [] is_a: HP:0025276 ! Abnormality of skin adnexa physiology property_value: dc:date "2016-12-18T15:16:15Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025279 name: Migratory is_a: HP:0011008 ! Temporal pattern property_value: dc:date "2016-12-18T15:18:09Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025280 name: Pain characteristic def: "A pain characteristic is defined as a subjective category or type of pain." [] is_a: HP:0012823 ! Clinical modifier property_value: dc:date "2016-12-18T15:21:51Z" xsd:dateTime property_value: terms:creator https://orcid.org/0000-0002-0736-9199 [Term] id: HP:0025281 name: Sharp def: "Applied to pain that is described as sharp, i.e., sudden and severe." [] synonym: "Stabbing pain" EXACT [] is_a: HP:0025280 ! Pain characteristic property_value: dc:date "2016-12-18T15:23:03Z" xsd:dateTime property_value: terms:creator