format-version: 1.2 data-version: hp/releases/2023-10-09 subsetdef: hposlim_core "Core clinical terminology" subsetdef: secondary_consequence "Consequence of a disorder in another organ system." synonymtypedef: abbreviation "abbreviation" synonymtypedef: HP:0034334 "allelic_requirement" synonymtypedef: layperson "layperson term" synonymtypedef: obsolete_synonym "discarded/obsoleted synonym" synonymtypedef: plural_form "plural form" synonymtypedef: uk_spelling "UK spelling" default-namespace: human_phenotype remark: Please see license of HPO at http://www.human-phenotype-ontology.org ontology: hp.obo property_value: http://purl.org/dc/elements/1.1/creator "Human Phenotype Ontology Consortium" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Monarch Initiative" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Peter Robinson" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Sebastian Köhler" xsd:string property_value: http://purl.org/dc/elements/1.1/description "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease." xsd:string property_value: http://purl.org/dc/elements/1.1/rights "Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative" xsd:string property_value: http://purl.org/dc/elements/1.1/subject "Phenotypic abnormalities encountered in human disease" xsd:string property_value: http://purl.org/dc/elements/1.1/title "Human Phenotype Ontology" xsd:string property_value: http://purl.org/dc/terms/license https://hpo.jax.org/app/license property_value: IAO:0000700 HP:0000001 property_value: owl:versionInfo "2023-10-09" xsd:string logical-definition-view-relation: has_part [Term] id: HP:0000001 name: All comment: Root of all terms in the Human Phenotype Ontology. xref: UMLS:C0444868 [Term] id: HP:0000002 name: Abnormality of body height def: "Deviation from the norm of height with respect to that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of body height" EXACT layperson [] xref: UMLS:C4025901 is_a: HP:0001507 ! Growth abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T02:20:00Z [Term] id: HP:0000003 name: Multicystic kidney dysplasia alt_id: HP:0004715 def: "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [https://orcid.org/0000-0002-0736-9199] comment: Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. synonym: "Multicystic dysplastic kidney" EXACT [] synonym: "Multicystic kidneys" EXACT [] synonym: "Multicystic renal dysplasia" EXACT [] xref: MSH:D021782 xref: SNOMEDCT_US:204962002 xref: SNOMEDCT_US:82525005 xref: UMLS:C3714581 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000005 name: Mode of inheritance alt_id: HP:0001425 alt_id: HP:0001453 alt_id: HP:0001461 alt_id: HP:0010985 def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [https://orcid.org/0000-0002-0736-9199] comment: While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation 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: MSH:D001750 xref: SNOMEDCT_US:397732007 xref: SNOMEDCT_US:398064005 xref: UMLS:C0005697 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000012 name: Urinary urgency def: "Urge incontinence is the strong, sudden need to urinate." [https://orcid.org/0000-0002-0736-9199, PMID:12559262] comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. synonym: "Overactive bladder" EXACT layperson [https://orcid.org/0000-0002-0736-9199] synonym: "Overactive bladder syndrome" RELATED [] synonym: "Urgency frequency syndrome" RELATED [] synonym: "Urinary urgency" EXACT layperson [] xref: SNOMEDCT_US:75088002 xref: UMLS:C0085606 xref: UMLS:C3544092 xref: UMLS:C4020898 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000013 name: Hypoplasia of the uterus alt_id: HP:0001154 alt_id: HP:0008637 def: "Underdevelopment of the uterus." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic uterus" EXACT [] synonym: "Rudimentary uterus" EXACT [] synonym: "Small uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped uterus" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:35850006 xref: UMLS:C0266399 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000014 name: Abnormality of the bladder def: "An abnormality of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0149632 is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000015 name: Bladder diverticulum def: "Diverticulum (sac or pouch) in the wall of the urinary bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Bladder diverticula" EXACT [https://orcid.org/0000-0002-5316-1399] xref: MSH:C562406 xref: SNOMEDCT_US:197866008 xref: UMLS:C0156273 is_a: HP:0025487 ! 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: MSH:D016055 xref: SNOMEDCT_US:130951007 xref: SNOMEDCT_US:267064002 xref: SNOMEDCT_US:449491000124101 xref: UMLS:C0080274 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000017 name: Nocturia def: "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [https://orcid.org/0009-0006-4530-3154] comment: Often occuring as a result of heart insufficiency. synonym: "Nycturia" EXACT [https://orcid.org/0009-0006-4530-3154] xref: MSH:D053158 xref: SNOMEDCT_US:139394000 xref: UMLS:C0028734 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000019 name: Urinary hesitancy def: "Difficulty in beginning the process of urination." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty with flow" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:5972002 xref: UMLS:C0152032 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000020 name: Urinary incontinence alt_id: HP:0006942 alt_id: HP:0008681 def: "Loss of the ability to control the urinary bladder leading to involuntary urination." [https://orcid.org/0009-0006-4530-3154, PMID:12559262] comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. synonym: "Bladder incontinence" EXACT [] synonym: "Loss of bladder control" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D014549 xref: SNOMEDCT_US:165232002 xref: UMLS:C0042024 is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0031064 ! Impaired continence [Term] id: HP:0000021 name: Megacystis alt_id: HP:0002838 def: "Dilatation of the bladder postnatally." [https://orcid.org/0000-0002-0736-9199] xref: MSH:C536139 xref: UMLS:C1855311 is_a: HP:0010955 ! Dilatation of the bladder [Term] id: HP:0000022 name: Abnormal male internal genitalia morphology def: "An abnormality of the male internal genitalia." [https://orcid.org/0000-0002-0736-9199] comment: The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. xref: UMLS:C4025899 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000023 name: Inguinal hernia def: "Protrusion of the contents of the abdominal cavity through the inguinal canal." [https://orcid.org/0000-0002-0736-9199] comment: Inguinal hernia appears as a bulge in the groin. subset: hposlim_core xref: MEDDRA:10022016 "Inguinal hernia" xref: MSH:D006552 xref: SNOMEDCT_US:396232000 xref: UMLS:C0019294 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0000024 name: Prostatitis def: "The presence of inflammation of the prostate." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of the prostate" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D011472 xref: SNOMEDCT_US:9713002 xref: UMLS:C0033581 is_a: HP:0008775 ! Abnormal prostate morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000025 name: Functional abnormality of male internal genitalia xref: UMLS:C4025898 is_a: HP:0012874 ! Abnormal male reproductive system physiology [Term] id: HP:0000026 name: Male hypogonadism alt_id: HP:0008649 def: "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased function of male gonad" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D005058 xref: SNOMEDCT_US:48723006 xref: UMLS:C0151721 is_a: HP:0000025 ! Functional abnormality of male internal genitalia is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000027 name: Azoospermia def: "Absence of any measurable level of sperm,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: MSH:D053713 xref: SNOMEDCT_US:425558002 xref: SNOMEDCT_US:48188009 xref: UMLS:C0004509 is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000028 name: Cryptorchidism alt_id: HP:0000797 def: "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. synonym: "Cryptorchism" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Undescended testes" EXACT layperson [] synonym: "Undescended testis" EXACT layperson [] xref: Fyler:4493 xref: MSH:D003456 xref: SNOMEDCT_US:204878001 xref: UMLS:C0010417 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000029 name: Testicular atrophy def: "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [https://orcid.org/0000-0002-0736-9199] synonym: "Testicular degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:17585008 xref: UMLS:C0156312 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000030 name: Testicular gonadoblastoma def: "The presence of a gonadoblastoma of the testis." [https://orcid.org/0000-0002-0736-9199] synonym: "Gonadoblastoma, male" RELATED [] xref: NCIT:C3754 xref: UMLS:C1515283 is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0010788 ! Testicular neoplasm [Term] id: HP:0000031 name: Epididymitis def: "The presence of inflammation of the epididymis." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D004823 xref: SNOMEDCT_US:31070006 xref: UMLS:C0014534 is_a: HP:0009714 ! Abnormal epididymis morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000032 name: Abnormality of male external genitalia def: "An abnormality of male external genitalia." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025897 is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000033 name: Ambiguous genitalia, male def: "Ambiguous genitalia in an individual with XY genetic gender." [https://orcid.org/0000-0002-0736-9199] synonym: "Ambiguous genitalia in males" EXACT layperson [] xref: UMLS:C4021823 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000034 name: Hydrocele testis def: "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [PMID:32644551] synonym: "Hydrocele" BROAD [] synonym: "Testicular hydrocele" EXACT [] xref: MSH:D006848 xref: SNOMEDCT_US:26614003 xref: SNOMEDCT_US:386152007 xref: SNOMEDCT_US:55434001 xref: UMLS:C1720771 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000035 name: Abnormal testis morphology def: "An anomaly of the testicle (the male gonad)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the testis" EXACT layperson [] synonym: "Anomaly of the testes" EXACT [] xref: SNOMEDCT_US:55631001 xref: UMLS:C0266423 is_a: HP:0011961 ! Non-obstructive azoospermia [Term] id: HP:0000036 name: Abnormal penis morphology def: "Abnormality of the male external sex organ." [] synonym: "Abnormality of the penis" EXACT layperson [] xref: UMLS:C4025896 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000037 name: Male pseudohermaphroditism def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D058490 xref: SNOMEDCT_US:111332007 xref: UMLS:C0238395 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000039 name: Epispadias def: "Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias." [https://orcid.org/0000-0002-0736-9199, PMID:23650202, PMID:33085327] comment: Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. xref: SNOMEDCT_US:406477003 xref: UMLS:C0563449 is_a: HP:0100627 ! Displacement of the urethral meatus [Term] id: HP:0000040 name: Long penis def: "Penile length more than 2 SD above the mean for age." [] comment: Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. synonym: "Enlarged penis" EXACT layperson [] synonym: "Long penis" EXACT layperson [] xref: SNOMEDCT_US:88673001 xref: UMLS:C0269011 is_a: HP:0000036 ! Abnormal penis morphology [Term] id: HP:0000041 name: Chordee def: "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. xref: SNOMEDCT_US:4287008 xref: UMLS:C0221182 is_a: HP:0000036 ! Abnormal penis morphology [Term] id: HP:0000042 name: Absent external genitalia def: "Lack of external genitalia in a male or female individual." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent external genitalia" EXACT layperson [] xref: UMLS:C1848869 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000044 name: Hypogonadotropic hypogonadism alt_id: HP:0003335 alt_id: HP:0008224 def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [https://orcid.org/0000-0002-0736-9199, PMID:23503957] synonym: "Hypogonadotrophic hypogonadism" EXACT [] synonym: "Isolated hypogonadotropic hypogonadism" RELATED [] synonym: "Low gonadotropins (secondary hypogonadism)" EXACT [] xref: MSH:D007006 xref: SNOMEDCT_US:33927004 xref: UMLS:C0271623 xref: UMLS:C3489396 is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000045 name: Abnormality of the scrotum xref: UMLS:C4025895 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000046 name: Small scrotum alt_id: HP:0030276 def: "Apparently small scrotum for age." [PMID:23650202] comment: A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. synonym: "Hypoplastic scrotum" EXACT [] synonym: "Scrotal hypoplasia" EXACT [] synonym: "Smaller than typical growth of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Underdeveloped scrotum" EXACT layperson [] xref: SNOMEDCT_US:204912007 xref: UMLS:C0431659 is_a: HP:0000045 ! Abnormality of the scrotum is_a: HP:0000050 ! Hypoplastic male external genitalia [Term] id: HP:0000047 name: Hypospadias def: "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [https://orcid.org/0000-0002-0736-9199, PMID:21968448] synonym: "Hypospadia" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4504 xref: SNOMEDCT_US:204888000 xref: UMLS:C1691215 is_a: HP:0100627 ! Displacement of the urethral meatus [Term] id: HP:0000048 name: Bifid scrotum def: "Midline indentation or cleft of the scrotum." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: A testis may or may not be present in each half of the scrotum. synonym: "Cleft of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Scrotal cleft" EXACT [] xref: SNOMEDCT_US:236780002 xref: UMLS:C0341787 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000049 name: Shawl scrotum def: "Superior margin of the scrotum superior to the base of the penis." [https://orcid.org/0000-0002-0736-9199, PMID:23650202] comment: A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. synonym: "Overriding scrotum" EXACT [] synonym: "Scrotum surrounds penis" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1858539 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000050 name: Hypoplastic male external genitalia alt_id: HP:0008710 alt_id: HP:0008721 def: "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic male genitalia" EXACT [] synonym: "Small male external genitalia" EXACT layperson [] synonym: "Underdeveloped male genitalia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1852534 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0003241 ! External genital hypoplasia [Term] id: HP:0000051 name: Perineal hypospadias def: "Hypospadias with location of the urethral meatus in the perineal region." [https://orcid.org/0000-0002-0736-9199, PMID:8097257] xref: SNOMEDCT_US:204890004 xref: UMLS:C0452148 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000052 name: Urethral atresia, male def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025894 is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000053 name: Macroorchidism def: "The presence of abnormally large testes." [https://orcid.org/0000-0002-0736-9199] synonym: "Large testicles" EXACT [] synonym: "Large testis" EXACT layperson [] xref: UMLS:C1263023 is_a: HP:0045058 ! Abnormality of the testis size [Term] id: HP:0000054 name: Micropenis alt_id: HP:0000038 def: "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [https://orcid.org/0000-0002-0736-9199, PMID:15102623] synonym: "Short penis" EXACT layperson [] synonym: "Small penis" EXACT layperson [] xref: SNOMEDCT_US:34911001 xref: UMLS:C4551492 is_a: HP:0008736 ! Hypoplasia of penis [Term] id: HP:0000055 name: Abnormality of female external genitalia def: "An abnormality of the female external genitalia." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal female external genitalia" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C4021822 is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000056 name: Abnormality of the clitoris def: "An abnormality of the clitoris." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the clit" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025893 is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000057 name: obsolete Clitoromegaly is_obsolete: true replaced_by: HP:0008665 [Term] id: HP:0000058 name: Abnormal labia morphology def: "An anomaly of the labia, the externally visible portions of the vulva." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the labia" EXACT [] xref: UMLS:C4025892 is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000059 name: Hypoplastic labia majora def: "Undergrowth of the outer labia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT layperson [] synonym: "Underdeveloped vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:289469003 xref: UMLS:C0566899 is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012881 ! Abnormal labia majora morphology [Term] id: HP:0000060 name: Clitoral hypoplasia def: "Developmental hypoplasia of the clitoris." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic clitoris" EXACT [] synonym: "Small clitoris" EXACT layperson [] synonym: "Underdeveloped clit" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1844527 is_a: HP:0012815 ! Hypoplastic female external genitalia is_a: HP:0040255 ! Aplasia/Hypoplasia of the clitoris [Term] id: HP:0000061 name: Ambiguous genitalia, female alt_id: HP:0008690 def: "Ambiguous genitalia in an individual with XX genetic gender." [https://orcid.org/0000-0002-0736-9199] synonym: "Ambiguous genitalia due to virilization" RELATED [] synonym: "Atypical appearance of female genitals" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1859980 xref: UMLS:C4025891 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000062 name: Ambiguous genitalia alt_id: HP:0008685 alt_id: HP:0008693 def: "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [https://orcid.org/0000-0002-0736-9199, PMID:15102623] comment: Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. synonym: "Ambiguous external genitalia" EXACT layperson [] synonym: "Ambiguous external genitalia at birth" EXACT layperson [] synonym: "Intersex genitalia" EXACT layperson [] xref: MSH:D012734 xref: SNOMEDCT_US:21321009 xref: UMLS:C0266362 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000063 name: Fused labia minora def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused inner lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837532 is_a: HP:0012880 ! Abnormal labia minora morphology [Term] id: HP:0000064 name: Hypoplastic labia minora synonym: "Underdeveloped inner lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1849295 is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012880 ! Abnormal labia minora morphology [Term] id: HP:0000065 name: Labial hypertrophy synonym: "Enlarged vaginal lips" EXACT [] synonym: "Enlargement of the labia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Enlargement of the vaginal lips" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:16924008 xref: UMLS:C0404531 is_a: HP:0000058 ! Abnormal labia morphology [Term] id: HP:0000066 name: Labial hypoplasia synonym: "Hypoplastic labia" EXACT [] synonym: "Underdeveloped labia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1850325 is_a: HP:0000058 ! Abnormal labia morphology is_a: HP:0012815 ! Hypoplastic female external genitalia [Term] id: HP:0000067 name: Urethral atresia, female def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025890 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000068 name: Urethral atresia def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent urethral opening" EXACT [] synonym: "Urethral opening absent" EXACT [] xref: UMLS:C1610065 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000069 name: Abnormality of the ureter alt_id: HP:0006001 def: "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the ureters" EXACT [] synonym: "Ureter issue" EXACT [] synonym: "Ureteral anomalies" EXACT [] xref: UMLS:C1840382 is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000070 name: Ureterocele def: "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993] xref: MSH:D014518 xref: SNOMEDCT_US:12818004 xref: UMLS:C0041960 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000071 name: Ureteral stenosis def: "The presence of a stenotic, i.e., constricted ureter." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of the ureter" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95574003 xref: UMLS:C0521618 is_a: HP:0006000 ! Ureteral obstruction [Term] id: HP:0000072 name: Hydroureter alt_id: HP:0006003 def: "The distention of the ureter with urine." [https://orcid.org/0000-0002-0736-9199, PMID:33085364] synonym: "Dilated ureter" EXACT [] synonym: "Megaureter" EXACT [] synonym: "Swelling of ureter" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Ureteral dilatation" EXACT [] synonym: "Uroureter" RELATED [] synonym: "Wide ureter" EXACT [] xref: SNOMEDCT_US:69758005 xref: SNOMEDCT_US:95576001 xref: UMLS:C0521620 xref: UMLS:C4020897 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000073 name: Ureteral duplication def: "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Double ureter" EXACT layperson [] xref: SNOMEDCT_US:49496001 xref: UMLS:C0221365 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000074 name: Ureteropelvic junction obstruction def: "Blockage of urine flow from the renal pelvis to the proximal ureter." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "Pelviureteric junction obstruction" EXACT [] synonym: "Ureteropelvic junction stenosis" EXACT [] xref: MSH:C537373 xref: SNOMEDCT_US:95575002 xref: UMLS:C0521619 is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0000075 name: Renal duplication def: "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra kidney" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Supernumerary kidney" RELATED [] xref: SNOMEDCT_US:30275001 xref: UMLS:C0266298 is_a: HP:0012210 ! Abnormal renal morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000076 name: Vesicoureteral reflux alt_id: HP:0005998 alt_id: HP:0006002 alt_id: HP:0008667 def: "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [https://orcid.org/0000-0002-0736-9199] synonym: "Ureteral reflux" EXACT [] synonym: "Ureteric reflux" EXACT [] synonym: "Vesico-ureteral reflux" EXACT [] synonym: "Vesicoureteric reflux" EXACT [] xref: Fyler:4510 xref: MSH:D014718 xref: SNOMEDCT_US:197811007 xref: UMLS:C0042580 is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0025634 ! Abnormal ureter physiology [Term] id: HP:0000077 name: Abnormality of the kidney def: "An abnormality of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: The kidney is a paired organ whose primary function is the production of urine. synonym: "Abnormal kidney" EXACT layperson [] synonym: "Abnormality of the kidney" EXACT layperson [] synonym: "Renal anomalies" EXACT [] synonym: "Renal anomaly" EXACT [] xref: MSH:D007674 xref: SNOMEDCT_US:44513007 xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 xref: UMLS:C0266292 is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000078 name: Abnormality of the genital system def: "An abnormality of the genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the reproductive system" RELATED layperson [] synonym: "Genital abnormalities" EXACT layperson [] synonym: "Genital abnormality" EXACT layperson [] synonym: "Genital anomalies" EXACT layperson [] synonym: "Genital defects" EXACT layperson [] xref: UMLS:C0281966 xref: UMLS:C0744356 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000079 name: Abnormality of the urinary system def: "An abnormality of the urinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "Urinary tract abnormalities" EXACT layperson [] synonym: "Urinary tract abnormality" EXACT layperson [] synonym: "Urinary tract anomalies" EXACT layperson [] xref: UMLS:C4021821 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000080 name: Abnormality of reproductive system physiology def: "An abnormal functionality of the genital system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of genital physiology" BROAD layperson [] synonym: "Abnormality of reproductive system physiology" EXACT layperson [] synonym: "Genital functional abnormality" EXACT layperson [] xref: UMLS:C4020896 xref: UMLS:C4021820 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000081 name: Duplicated collecting system def: "A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice." [https://orcid.org/0000-0002-0736-9199] synonym: "Double collecting system" EXACT [] synonym: "Double urinary collecting systems on intravenous pyelography" EXACT [] synonym: "Duplex collecting system" EXACT [] synonym: "Duplicated renal collecting system" EXACT [] xref: UMLS:C1858565 is_a: HP:0004742 ! Abnormal renal collecting system morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000083 name: Renal insufficiency alt_id: HP:0000084 alt_id: HP:0004723 def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [https://orcid.org/0000-0002-0736-9199] synonym: "Renal failure" EXACT layperson [] synonym: "Renal failure in adulthood" EXACT layperson [] xref: MSH:D051437 xref: SNOMEDCT_US:236423003 xref: SNOMEDCT_US:42399005 xref: UMLS:C0035078 xref: UMLS:C1565489 xref: UMLS:C1839604 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000085 name: Horseshoe kidney def: "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused kidneys" BROAD [] synonym: "Horseshoe kidney" EXACT layperson [] synonym: "Horseshoe kidneys" EXACT layperson [] xref: Fyler:4507 xref: MSH:D000069337 xref: SNOMEDCT_US:41729002 xref: UMLS:C0221353 is_a: HP:0100542 ! Abnormal localization of kidney [Term] id: HP:0000086 name: Ectopic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal kidney location" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Displaced kidney" EXACT layperson [] synonym: "Ectopic kidneys" EXACT [] synonym: "Renal ectopia" EXACT [] xref: SNOMEDCT_US:16507009 xref: UMLS:C0238207 is_a: HP:0100542 ! Abnormal localization of kidney [Term] id: HP:0000089 name: Renal hypoplasia alt_id: HP:0001968 alt_id: HP:0004741 alt_id: HP:0008641 def: "Hypoplasia of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. synonym: "Hypoplastic kidney" EXACT [] synonym: "Hypoplastic kidneys" EXACT [] synonym: "Small kidneys" EXACT layperson [] synonym: "Underdeveloped kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:32659003 xref: UMLS:C0266295 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000090 name: Nephronophthisis alt_id: HP:0004748 def: "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] comment: Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. synonym: "juvenile nephronophthisis" EXACT [] xref: SNOMEDCT_US:204958008 xref: UMLS:C0687120 is_a: HP:0100957 ! Abnormal renal medulla morphology [Term] id: HP:0000091 name: Abnormal renal tubule morphology def: "An abnormality of the renal tubules." [https://orcid.org/0000-0002-0736-9199] comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. synonym: "Abnormality of the renal tubule" EXACT [] synonym: "Morphologic abnormality of the renal tubules" EXACT [] xref: UMLS:C4021826 is_a: HP:0012575 ! Abnormal nephron morphology [Term] id: HP:0000092 name: Renal tubular atrophy alt_id: HP:0005578 def: "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules." [https://orcid.org/0000-0002-0736-9199, PMID:27211375] comment: Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis. synonym: "Renal tubular cell atrophy" EXACT [] synonym: "Tubular atrophy" EXACT [] xref: UMLS:C1858395 is_a: HP:0032599 ! Abnormal renal tubular epithelial morphology [Term] id: HP:0000093 name: Proteinuria def: "Increased levels of protein in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "High urine protein levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Protein in urine" EXACT layperson [] xref: MSH:D011507 xref: SNOMEDCT_US:29738008 xref: UMLS:C0033687 is_a: HP:0020129 ! Abnormal urine protein level [Term] id: HP:0000095 name: Abnormal renal glomerulus morphology def: "A structural anomaly of the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl, PMID:18184729] comment: Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. synonym: "Abnormality of renal glomerulus morphology" EXACT [] synonym: "Morphologic abnormality of the renal glomerulus" EXACT [] xref: UMLS:C4025889 is_a: HP:0031263 ! Abnormal renal corpuscle morphology [Term] id: HP:0000096 name: Glomerular sclerosis alt_id: HP:0030761 def: "Accumulation of scar tissue within the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Glomerulosclerosis" EXACT [] synonym: "Renal glomerular fibrosis" BROAD [] xref: SNOMEDCT_US:197661001 xref: SNOMEDCT_US:82646005 xref: UMLS:C0178664 is_a: HP:0000095 ! Abnormal renal glomerulus morphology [Term] id: HP:0000097 name: Focal segmental glomerulosclerosis alt_id: HP:0004747 def: "Segmental accumulation of scar tissue in individual (but not all) glomeruli." [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:16164633] comment: Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries with hyalinosis and intracapillary foam cells, formation of adhesions between the glomerular tuft and Bowman's capsule, and podocyte hypertrophy. FSGS is not a disease entity, but rather a pattern of injury with quite diverse clinical behavior, morphology, and possibly also pathogenesis. synonym: "Focal and segmental glomerular sclerosis" EXACT [] synonym: "Focal and segmental glomerulosclerosis" EXACT [] synonym: "focal glomerulosclerosis" EXACT [] xref: MSH:D005923 xref: SNOMEDCT_US:236403004 xref: SNOMEDCT_US:25821008 xref: UMLS:C0017668 is_a: HP:0000096 ! Glomerular sclerosis [Term] id: HP:0000098 name: Tall stature alt_id: HP:0001527 alt_id: HP:0003515 alt_id: HP:0003516 def: "A height above that which is expected according to age and gender norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Accelerated linear growth" EXACT [] synonym: "Increased body height" EXACT layperson [] synonym: "Increased linear growth" EXACT [] synonym: "Tall stature" EXACT layperson [] xref: SNOMEDCT_US:248328003 xref: UMLS:C0241240 is_a: HP:0000002 ! Abnormality of body height property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T02:21:00Z [Term] id: HP:0000099 name: Glomerulonephritis def: "Inflammation of the renal glomeruli." [https://orcid.org/0000-0002-0736-9199] synonym: "Glomerular nephritis" EXACT [] xref: MSH:D005921 xref: SNOMEDCT_US:36171008 xref: UMLS:C0017658 is_a: HP:0000095 ! Abnormal renal glomerulus morphology is_a: HP:0000123 ! Nephritis [Term] id: HP:0000100 name: Nephrotic syndrome alt_id: HP:0000801 alt_id: HP:0004718 alt_id: HP:0008638 alt_id: HP:0008727 def: "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [https://orcid.org/0000-0002-0736-9199] comment: In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. synonym: "Nephrosis" EXACT [] xref: MSH:D009404 xref: SNOMEDCT_US:52254009 xref: UMLS:C0027726 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000103 name: Polyuria alt_id: HP:0200060 def: "An increased rate of urine production." [https://orcid.org/0000-0002-0736-9199] comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day. synonym: "Increased urine output" EXACT layperson [] xref: MSH:D011141 xref: SNOMEDCT_US:28442001 xref: SNOMEDCT_US:56574000 xref: SNOMEDCT_US:718402002 xref: UMLS:C0032617 is_a: HP:0012590 ! Abnormal urine output [Term] id: HP:0000104 name: Renal agenesis alt_id: HP:0000785 alt_id: HP:0004745 alt_id: HP:0008680 def: "Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [https://orcid.org/0000-0002-0736-9199] comment: Renal agenesis can occur as a unilateral or bilateral trait. synonym: "Absent kidney" EXACT layperson [] synonym: "Missing kidney" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Renal aplasia" EXACT [] xref: Fyler:4503 xref: SNOMEDCT_US:204942005 xref: UMLS:C0542519 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000105 name: Enlarged kidney def: "An abnormal increase in the size of the kidney." [https://orcid.org/0000-0002-0736-9199] comment: The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilms tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. synonym: "Enlarged kidney" EXACT layperson [] synonym: "Large kidney" RELATED [] synonym: "Large kidneys" EXACT layperson [] synonym: "Nephromegaly" EXACT [] synonym: "Renal enlargement" EXACT [] xref: SNOMEDCT_US:300444006 xref: UMLS:C0542518 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000107 name: Renal cyst alt_id: HP:0000088 alt_id: HP:0000109 def: "A fluid filled sac in the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Cystic kidney disease" RELATED layperson [] synonym: "Cystic kidneys" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Kidney cyst" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Renal cysts" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D052177 xref: UMLS:C0022679 xref: UMLS:C3887499 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000108 name: Renal corticomedullary cysts def: "The presence of multiple cysts at the border between the renal cortex and medulla." [https://orcid.org/0000-0002-0736-9199] synonym: "Corticomedullary renal cysts" EXACT [] synonym: "Renal corticomedullary cystic disease" RELATED [] xref: UMLS:C1968619 is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormal renal cortex morphology is_a: HP:0100957 ! Abnormal renal medulla morphology [Term] id: HP:0000110 name: Renal dysplasia alt_id: HP:0000116 alt_id: HP:0004721 def: "The presence of developmental dysplasia of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Dysplastic kidneys" EXACT [] synonym: "Renal adysplasia" EXACT [] xref: MSH:C563261 xref: SNOMEDCT_US:204949001 xref: UMLS:C1619700 xref: UMLS:C3536714 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000111 name: Renal juxtaglomerular cell hypertrophy/hyperplasia def: "Increased number and size of the juxtaglomerular cells." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] xref: UMLS:C1866496 is_a: HP:0000095 ! Abnormal renal glomerulus morphology [Term] id: HP:0000112 name: Nephropathy def: "A nonspecific term referring to disease or damage of the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney damage" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Kidney disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D007674 xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 xref: UMLS:C1408258 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000113 name: Polycystic kidney dysplasia alt_id: HP:0004716 alt_id: HP:0004739 alt_id: HP:0004740 alt_id: HP:0008645 alt_id: HP:0008673 alt_id: HP:0008699 def: "The presence of multiple cysts in both kidneys." [https://orcid.org/0000-0002-0736-9199] comment: Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. synonym: "Enlarged polycystic kidneys" EXACT [] synonym: "Polycystic kidney disease" RELATED [] synonym: "Polycystic kidneys" EXACT [] xref: Fyler:4508 xref: MSH:D007690 xref: SNOMEDCT_US:82525005 xref: UMLS:C0022680 xref: UMLS:C1567435 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000114 name: Proximal tubulopathy alt_id: HP:0000806 def: "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle." [https://orcid.org/0000-0002-0736-9199] synonym: "Proximal renal tubule defect" EXACT [] synonym: "Proximal renal tubulopathy" EXACT [] synonym: "Proximal tubular defect" EXACT [] synonym: "Proximal tubule dysfunction" EXACT [] synonym: "Selective proximal tubular damage" EXACT [] xref: UMLS:C1839603 is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0000117 name: Renal phosphate wasting def: "High urine phosphate in the presence of hypophosphatemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased renal tubular phosphate reabsorption" EXACT [] synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate" EXACT [] synonym: "Tubular phosphate reabsorption low" EXACT [] xref: UMLS:C1845169 is_a: HP:0012599 ! Abnormal urine phosphate concentration [Term] id: HP:0000118 name: Phenotypic abnormality def: "A phenotypic abnormality." [https://orcid.org/0000-0002-0736-9199] comment: This is the root of the phenotypic abnormality subontology of the HPO. synonym: "Organ abnormality" EXACT [] xref: UMLS:C4021819 is_a: HP:0000001 ! All [Term] id: HP:0000119 name: Abnormality of the genitourinary system alt_id: HP:0008658 alt_id: HP:0008688 alt_id: HP:0008704 alt_id: HP:0008713 def: "The presence of any abnormality of the genitourinary system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the GU system" EXACT abbreviation [] synonym: "Genitourinary abnormality" EXACT [] synonym: "Genitourinary disease" RELATED [] synonym: "Genitourinary dysplasia" RELATED [] synonym: "Genitourinary tract anomalies" EXACT [] synonym: "Genitourinary tract malformation" EXACT [] synonym: "Urogenital abnormalities" EXACT [] synonym: "Urogenital anomalies" EXACT [] xref: MSH:D014564 xref: SNOMEDCT_US:287085006 xref: SNOMEDCT_US:42030000 xref: UMLS:C0042063 xref: UMLS:C0080276 xref: UMLS:C4020895 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000121 name: Nephrocalcinosis def: "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [https://orcid.org/0000-0002-0736-9199] comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. synonym: "Increased calcium level in kidney" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Too much calcium deposited in kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D009397 xref: SNOMEDCT_US:48638002 xref: UMLS:C0027709 xref: UMLS:C4280679 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000122 name: Unilateral renal agenesis def: "A unilateral form of agenesis of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent kidney on one side" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Missing one kidney" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Single kidney" EXACT layperson [] synonym: "Unilateral kidney agenesis" EXACT [] xref: Fyler:4509 xref: SNOMEDCT_US:55726006 xref: UMLS:C0266294 is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0000123 name: Nephritis alt_id: HP:0008634 def: "The presence of inflammation affecting the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Kidney inflammation" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D009393 xref: SNOMEDCT_US:52845002 xref: UMLS:C0027697 is_a: HP:0012211 ! Abnormal renal physiology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000124 name: Renal tubular dysfunction def: "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid." [] synonym: "Abnormal function of filtrating structures in kidney" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Renal tubular defect" EXACT [] synonym: "Renal tubular disease" RELATED [] xref: SNOMEDCT_US:95568003 xref: UMLS:C0151747 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000125 name: Pelvic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Sacral kidney" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:56108007 xref: UMLS:C0221209 is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0000126 name: Hydronephrosis def: "Severe distention of the kidney with dilation of the renal pelvis and calices." [https://orcid.org/0000-0002-0736-9199] comment: Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. xref: Fyler:4502 xref: MSH:D006869 xref: SNOMEDCT_US:43064006 xref: UMLS:C0020295 is_a: HP:0010946 ! Dilatation of the renal pelvis [Term] id: HP:0000127 name: Renal salt wasting def: "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Loss of salt in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Renal salt-wasting" EXACT [] synonym: "Salt wasting" EXACT [] synonym: "Salt-wasting" EXACT [] xref: UMLS:C1846347 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration [Term] id: HP:0000128 name: Renal potassium wasting def: "High urine potassium in the presence of hypokalemia." [https://orcid.org/0000-0002-0736-9199] comment: A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. synonym: "Renal K wasting" EXACT abbreviation [] xref: UMLS:C1846348 is_a: HP:0012598 ! Abnormal urine potassium concentration [Term] id: HP:0000130 name: Abnormality of the uterus alt_id: HP:0008630 alt_id: HP:0008692 def: "An abnormality of the uterus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the uterus" EXACT layperson [] synonym: "Uterine abnormalities" EXACT layperson [] synonym: "Uterine malformations" EXACT layperson [] xref: MSH:C562565 xref: SNOMEDCT_US:37849005 xref: UMLS:C0266383 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia [Term] id: HP:0000131 name: Uterine leiomyoma alt_id: HP:0008642 def: "The presence of a leiomyoma of the uterus." [https://orcid.org/0000-0002-0736-9199] comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells. synonym: "Benign uterine leiomyomas" EXACT [] synonym: "Uterine fibroid" EXACT [] xref: MSH:D007889 xref: NCIT:C3157 xref: SNOMEDCT_US:146801000119103 xref: SNOMEDCT_US:44598004 xref: SNOMEDCT_US:95315005 xref: UMLS:C0042133 is_a: HP:0010784 ! Uterine neoplasm [Term] id: HP:0000132 name: Menorrhagia alt_id: HP:0100609 def: "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." [https://orcid.org/0000-0002-0736-9199, PMID:22594864] synonym: "Abnormally heavy bleeding during menstruation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormally heavy periods" EXACT layperson [] synonym: "Hypermenorrhea" EXACT [PMID:22594864] xref: MSH:D008595 xref: SNOMEDCT_US:386692008 xref: UMLS:C0025323 is_a: HP:0000140 ! Abnormality of the menstrual cycle is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000133 name: Gonadal dysgenesis alt_id: HP:0003243 synonym: "Mixed gonadal dysgenesis" EXACT [] synonym: "Pure gonadal dysgenesis" EXACT [] xref: MSH:D006059 xref: MSH:D006060 xref: SNOMEDCT_US:205681004 xref: SNOMEDCT_US:38804009 xref: SNOMEDCT_US:83579008 xref: SNOMEDCT_US:95219002 xref: UMLS:C0018051 xref: UMLS:C0018055 xref: UMLS:C0687149 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0000134 name: Female hypogonadism def: "Decreased functionality of the female gonads, i.e., of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypogonadism, female" EXACT [] xref: SNOMEDCT_US:16041008 xref: UMLS:C0271578 is_a: HP:0000135 ! Hypogonadism is_a: HP:0031066 ! Abnormal ovarian physiology [Term] id: HP:0000135 name: Hypogonadism def: "A decreased functionality of the gonad." [https://orcid.org/0000-0002-0736-9199] comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. synonym: "Decreased activity of gonads" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D007006 xref: SNOMEDCT_US:48130008 xref: UMLS:C0020619 is_a: HP:0000080 ! Abnormality of reproductive system physiology is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000136 name: Bifid uterus def: "The presence of a bifid uterus." [https://orcid.org/0000-0002-0736-9199] comment: A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. xref: UMLS:C1850327 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0000137 name: Abnormality of the ovary def: "An abnormality of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the ovaries" EXACT layperson [] synonym: "Abnormality of the ovary" EXACT layperson [] synonym: "Ovarian disease" RELATED layperson [] xref: MSH:D010049 xref: SNOMEDCT_US:5552004 xref: UMLS:C0029928 xref: UMLS:C4021818 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia [Term] id: HP:0000138 name: Ovarian cyst alt_id: HP:0000146 def: "The presence of one or more cysts of the ovary." [https://orcid.org/0000-0002-0736-9199] synonym: "Cystic abnormalities of the ovaries" EXACT [] synonym: "Cystic ovaries" EXACT [] synonym: "Ovarian cyst" EXACT layperson [] synonym: "Ovarian cystic abnormality" EXACT [] xref: MSH:D010048 xref: SNOMEDCT_US:79883001 xref: UMLS:C0029927 is_a: HP:0031065 ! Abnormal ovarian morphology [Term] id: HP:0000139 name: Uterine prolapse alt_id: HP:0100824 def: "The presence of prolapse of the uterus." [https://orcid.org/0000-0002-0736-9199] comment: The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. synonym: "Sagging uterus" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D014596 xref: SNOMEDCT_US:24976005 xref: UMLS:C0042140 is_a: HP:0031105 ! Abnormal uterus morphology is_a: HP:0100823 ! Genital hernia [Term] id: HP:0000140 name: Abnormality of the menstrual cycle def: "An abnormality of the ovulation cycle." [https://orcid.org/0000-0002-0736-9199, PMID:23281358] synonym: "Abnormality of the menstrual cycle" EXACT layperson [] synonym: "Menstrual abnormalities" RELATED layperson [] xref: UMLS:C3549779 xref: UMLS:C4025888 is_a: HP:0030012 ! Abnormal female reproductive system physiology [Term] id: HP:0000141 name: Amenorrhea def: "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months." [PMID:22594864] synonym: "Abnormal absence of menstruation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C2219717 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000142 name: Abnormal vagina morphology alt_id: HP:0008650 def: "Any structural abnormality of the vagina." [https://orcid.org/0000-0002-0736-9199] synonym: "Vaginal malformation" EXACT [] xref: UMLS:C1856023 is_a: HP:0000008 ! Abnormal morphology of female internal genitalia [Term] id: HP:0000143 name: Rectovaginal fistula def: "The presence of a fistula between the vagina and the rectum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal connection between rectum and vagina" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10051097 "Rectovaginal fistula" xref: MSH:D012006 xref: SNOMEDCT_US:65619001 xref: UMLS:C0034895 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0100590 ! Rectal fistula [Term] id: HP:0000144 name: Decreased fertility synonym: "Abnormal fertility" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Decreased fertility" EXACT layperson [] xref: SNOMEDCT_US:17276009 xref: UMLS:C0520927 is_a: HP:0000080 ! Abnormality of reproductive system physiology [Term] id: HP:0000145 name: Transverse vaginal septum synonym: "Transverse vaginal membrane" EXACT [] xref: UMLS:C1856006 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0000147 name: Polycystic ovaries alt_id: HP:0008644 alt_id: HP:0008657 synonym: "Polycystic ovary" EXACT [] synonym: "Polycystic ovary disease" RELATED [] synonym: "Sclerocystic ovaries" EXACT [] xref: MSH:D011085 xref: SNOMEDCT_US:69878008 xref: UMLS:C0032460 xref: UMLS:C1136382 is_a: HP:0000138 ! Ovarian cyst [Term] id: HP:0000148 name: Vaginal atresia def: "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormally closed or absent vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:87380008 xref: UMLS:C1321884 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0001827 ! Genital tract atresia [Term] id: HP:0000149 name: Ovarian gonadoblastoma def: "The presence of a gonadoblastoma of the ovary." [eMedicine:986581, https://orcid.org/0000-0002-0736-9199] comment: Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. synonym: "Gonadoblastoma, female" EXACT [] xref: NCIT:C3754 xref: SNOMEDCT_US:716594002 xref: UMLS:C1518716 is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0100615 ! Ovarian neoplasm [Term] id: HP:0000150 name: Gonadoblastoma alt_id: HP:0006745 def: "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D018238 xref: NCIT:C3754 xref: SNOMEDCT_US:74751003 xref: UMLS:C0206661 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0100728 ! Germ cell neoplasia [Term] id: HP:0000151 name: Aplasia of the uterus def: "Aplasia of the uterus." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent uterus" EXACT layperson [] synonym: "uterus absent" EXACT layperson [] xref: SNOMEDCT_US:248942000 xref: UMLS:C0425913 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000152 name: Abnormality of head or neck def: "An abnormality of head and neck." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of head or neck" EXACT layperson [] synonym: "Head and neck abnormality" EXACT layperson [] xref: UMLS:C4021817 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000153 name: Abnormality of the mouth def: "An abnormality of the mouth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal mouth" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the mouth" EXACT layperson [] xref: MSH:D009056 xref: SNOMEDCT_US:128334002 xref: UMLS:C0026633 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000154 name: Wide mouth alt_id: HP:0000181 alt_id: HP:0002052 def: "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [PMID:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. subset: hposlim_core synonym: "Broad mouth" EXACT layperson [] synonym: "Large mouth" EXACT layperson [] synonym: "Large oral aperture" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Macrostomia" EXACT [] synonym: "Wide mouth" EXACT layperson [] xref: MSH:D008265 xref: SNOMEDCT_US:40159009 xref: UMLS:C0024433 is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000155 name: Oral ulcer def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Mouth sore" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Mouth ulcer" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oral mucosal ulceration" EXACT [] xref: MSH:D019226 xref: SNOMEDCT_US:26284000 xref: UMLS:C0149745 is_a: HP:0011830 ! Abnormal oral mucosa morphology [Term] id: HP:0000157 name: Abnormality of the tongue def: "Any abnormality of the tongue." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal tongue" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the tongue" EXACT layperson [] synonym: "Glossal abnormality" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual abnormality" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tongue abnormality" EXACT layperson [] xref: UMLS:C0878638 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000158 name: Macroglossia alt_id: HP:0000203 def: "Increased length and width of the tongue." [PMID:19125428] comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. subset: hposlim_core synonym: "Abnormally large tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Glossal hypertrophy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of the tongue" EXACT [] synonym: "Hypertrophy of the tongue" EXACT [] synonym: "Increased size of tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large tongue" EXACT layperson [] synonym: "Lingual hyperplasia" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual hypertrophy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Tongue hypertrophy" EXACT [] xref: MSH:D008260 xref: SNOMEDCT_US:25273001 xref: UMLS:C0024421 is_a: HP:0003712 ! Skeletal muscle hypertrophy is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000159 name: Abnormal lip morphology def: "An abnormality of the lip." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal lip" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the lip" EXACT layperson [] synonym: "Anomaly of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lip abnormality" EXACT layperson [] synonym: "Malformation of lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2183966 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000160 name: Narrow mouth alt_id: HP:0002261 alt_id: HP:0009095 alt_id: HP:0009096 def: "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [PMID:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. subset: hposlim_core synonym: "Microstomia" EXACT [] synonym: "Narrow mouth" EXACT layperson [] synonym: "Small mouth" EXACT layperson [] synonym: "Small oral aperture" EXACT [] xref: MSH:D008865 xref: SNOMEDCT_US:14582003 xref: UMLS:C0026034 is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000161 name: Median cleft lip def: "A type of cleft lip presenting as a midline (median) gap in the upper lip." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Central cleft upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Midline cleft lip" EXACT [] xref: UMLS:C1850256 is_a: HP:0000204 ! Cleft upper lip [Term] id: HP:0000162 name: Glossoptosis def: "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. subset: hposlim_core synonym: "Lingual retraction" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Posterior displacement of the tongue" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Retraction of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D065710 xref: SNOMEDCT_US:3639002 xref: UMLS:C0267048 xref: UMLS:C4280678 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000163 name: Abnormal oral cavity morphology def: "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the oral cavity" EXACT layperson [] xref: UMLS:C4025887 is_a: HP:0031816 ! Abnormal oral morphology [Term] id: HP:0000164 name: Abnormality of the dentition alt_id: HP:0001567 alt_id: HP:0006296 alt_id: HP:0006348 def: "Any abnormality of the teeth." [https://orcid.org/0000-0002-9338-3017] comment: Any abnormality of the primary (deciduous) or permanent teeth. subset: hposlim_core synonym: "Abnormal dentition" EXACT layperson [] synonym: "Abnormal teeth" EXACT layperson [] synonym: "Abnormality of the teeth" RELATED layperson [] synonym: "Dental abnormalities" EXACT plural_form [] synonym: "Dental abnormality" EXACT layperson [] synonym: "Dental anomalies" EXACT plural_form [] synonym: "Dental problem" RELATED layperson [] synonym: "Dental problems" RELATED plural_form [] synonym: "Tooth abnormalities" RELATED layperson [] xref: MSH:D014071 xref: SNOMEDCT_US:422775003 xref: UMLS:C0040427 xref: UMLS:C0262444 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000166 name: Severe periodontitis def: "A severe form of periodontitis." [https://orcid.org/0000-0002-0736-9199] synonym: "Severe gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Severe periodontal disease" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Severe pyorrhea" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025886 is_a: HP:0000704 ! Periodontitis [Term] id: HP:0000168 name: Abnormality of the gingiva def: "Any abnormality of the gingiva (also known as gums)." [https://orcid.org/0000-0002-0736-9199] comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. subset: hposlim_core synonym: "Abnormality of the gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival abnormality" EXACT [] xref: UMLS:C4021816 is_a: HP:0011830 ! Abnormal oral mucosa morphology [Term] id: HP:0000169 name: Gingival fibromatosis def: "The presence of fibrosis of the gingiva." [https://orcid.org/0000-0002-0736-9199] comment: Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. subset: hposlim_core synonym: "Gingival fibroma" EXACT [] synonym: "Gingival fibrous nodules" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Hereditary gingival fibromatosis" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Idiopathic gingival hyperplasia" NARROW [https://orcid.org/0000-0001-5889-4463] xref: MSH:C562884 xref: MSH:D005351 xref: NCIT:C3041 xref: SNOMEDCT_US:109620006 xref: SNOMEDCT_US:58569000 xref: UMLS:C0016049 xref: UMLS:C0399440 xref: UMLS:C4280677 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0010614 ! Fibroma [Term] id: HP:0000171 name: Microglossia alt_id: HP:0000226 alt_id: HP:0009079 def: "Decreased length and width of the tongue." [PMID:19125428] comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. subset: hposlim_core synonym: "Abnormally small tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of tongue" EXACT [] synonym: "Hypoglossia" EXACT [] synonym: "Hypoplasia of the tongue" EXACT [] synonym: "Hypoplastic tongue" EXACT [] synonym: "Lingual hypoplasia" EXACT [] synonym: "Rudimentary tongue" EXACT [] synonym: "Small tongue" EXACT [] synonym: "Underdevelopment of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D014060 xref: SNOMEDCT_US:249380003 xref: SNOMEDCT_US:32614006 xref: UMLS:C0025988 xref: UMLS:C0426492 is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue [Term] id: HP:0000172 name: Abnormal uvula morphology def: "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the uvula" EXACT layperson [] xref: UMLS:C4025885 is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000174 name: Abnormal palate morphology def: "Any abnormality of the palate, i.e., of roof of the mouth." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the palate" EXACT layperson [] synonym: "Abnormality of the roof of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Palatal anomaly" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Palate abnormality" EXACT [] xref: UMLS:C4021815 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000175 name: Cleft palate alt_id: HP:0410004 def: "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [https://orcid.org/0000-0002-0736-9199] comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. subset: hposlim_core synonym: "Cleft hard and soft palate" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of hard and soft palate" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of palate" EXACT [] synonym: "Cleft palate" EXACT layperson [] synonym: "Cleft roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft secondary palate" BROAD [] synonym: "Palatoschisis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Uranostaphyloschisis" EXACT [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4876 xref: MSH:D002972 xref: SNOMEDCT_US:63567004 xref: SNOMEDCT_US:87979003 xref: UMLS:C0008925 xref: UMLS:C2981150 is_a: HP:0000174 ! Abnormal palate morphology is_a: HP:0000202 ! Orofacial cleft [Term] id: HP:0000176 name: Submucous cleft hard palate alt_id: HP:0000208 alt_id: HP:0002746 alt_id: HP:0009091 def: "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [https://orcid.org/0000-0002-0736-9199, PMID:19779505] synonym: "Partial thickness cleft hard palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Submucosal cleft palate" EXACT [] synonym: "Submucous clefting" RELATED [] xref: SNOMEDCT_US:43437003 xref: UMLS:C0432103 xref: UMLS:C4020894 is_a: HP:0410031 ! Submucous cleft of soft and hard palate [Term] id: HP:0000177 name: Abnormal upper lip morphology def: "An abnormality of the upper lip." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of upper lip" EXACT layperson [] synonym: "Anomaly of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025884 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000178 name: Abnormal lower lip morphology def: "An abnormality of the lower lip." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of lower lip" EXACT layperson [] synonym: "Anomaly of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025883 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000179 name: Thick lower lip vermilion alt_id: HP:0000170 def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. synonym: "Full lower lip" RELATED layperson [] synonym: "Full lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of lower lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plump lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent lower lip" EXACT layperson [] synonym: "Prominent lower lip vermilion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Thick lower lip" RELATED layperson [] synonym: "Thick red part of the lower lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick vermilion border of lower lip" EXACT [] xref: UMLS:C1839739 xref: UMLS:C2053437 is_a: HP:0000178 ! Abnormal lower lip morphology is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000180 name: Lobulated tongue def: "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [PMID:19125428] comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes. subset: hposlim_core synonym: "Bumpy tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual lobules" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lobulate tongue" EXACT [] xref: SNOMEDCT_US:253752000 xref: UMLS:C0431564 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000182 name: Movement abnormality of the tongue synonym: "Abnormality of lingual movement" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Movement abnormality of the tongue" EXACT layperson [] xref: UMLS:C4025882 is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0000183 name: Difficulty in tongue movements synonym: "Difficulty in lingual movements" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Difficulty in tongue movements" EXACT layperson [] synonym: "Hypokinesia of the tongue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual hypokinesia" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853406 xref: UMLS:C4280676 is_a: HP:0000182 ! Movement abnormality of the tongue [Term] id: HP:0000185 name: Cleft soft palate def: "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft muscular palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of soft palate" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Cleft velum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MSH:C562950 xref: SNOMEDCT_US:253997002 xref: UMLS:C0432098 is_a: HP:0000175 ! Cleft palate is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000187 name: Broad alveolar ridges synonym: "Broad alveolar margins" EXACT [] synonym: "Broad alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Wide alveolar margins" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Wide alveolar processes of jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Wide gum ridges" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Widened alveolar ridges" EXACT [] xref: UMLS:C1857500 xref: UMLS:C4280675 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0000188 name: Short upper lip alt_id: HP:0200087 def: "Decreased width of the upper lip." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased height of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased upper labial height" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased upper labial length" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased vertical length of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short upper lip" EXACT layperson [] synonym: "Shortening of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical deficiency of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1848977 is_a: HP:0000177 ! Abnormal upper lip morphology [Term] id: HP:0000189 name: Narrow palate def: "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [PMID:19125428] comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. subset: hposlim_core synonym: "Decreased palatal width" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased transverse dimension of palate" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow palate" EXACT layperson [] synonym: "Narrow roof of mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1398312 is_a: HP:0000174 ! Abnormal palate morphology [Term] id: HP:0000190 name: Abnormal oral frenulum morphology def: "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [https://orcid.org/0000-0002-0736-9199, PMID:23633765] comment: A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. synonym: "Abnormality of frenum of tongue" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of lingual frenum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of oral frenula" EXACT [] synonym: "Abnormality of oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025881 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000191 name: Accessory oral frenulum def: "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [PMID:19125428] comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. subset: hposlim_core synonym: "Accessory oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Extra oral frenulum" EXACT [] synonym: "Extra oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple oral frenula" EXACT [] synonym: "Supernumerary oral frenulum" EXACT [] synonym: "Supernumerary oral frenum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021814 is_a: HP:0000190 ! Abnormal oral frenulum morphology [Term] id: HP:0000193 name: Bifid uvula alt_id: HP:0000173 alt_id: HP:0410032 def: "Uvula separated into two parts most easily seen at the tip." [PMID:19125428] subset: hposlim_core synonym: "Bifid palatine uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of uvula" EXACT [] synonym: "Cleft uvula" EXACT [] synonym: "Forked uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Split uvula" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Uvula bifida" EXACT [] xref: SNOMEDCT_US:18910001 xref: UMLS:C0266122 is_a: HP:0000172 ! Abnormal uvula morphology [Term] id: HP:0000194 name: Open mouth def: "A facial appearance characterized by a permanently or nearly permanently opened mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Gaped jawed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gaped mouthed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Open mouth" EXACT layperson [] synonym: "Open mouth appearance" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Slack jawed appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:262016004 xref: UMLS:C0240379 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000196 name: Lower lip pit def: "Depression located on the vermilion of the lower lip, usually paramedian." [https://orcid.org/0009-0006-4530-3154, PMID:19125428] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). xref: UMLS:C1861544 is_a: HP:0000178 ! Abnormal lower lip morphology is_a: HP:0100269 ! Paramedian lip pit [Term] id: HP:0000197 name: Abnormal parotid gland morphology def: "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of parotid gland" EXACT [] synonym: "Anomaly of the parotid gland" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025880 is_a: HP:0010286 ! Abnormal salivary gland morphology [Term] id: HP:0000198 name: Absence of Stensen duct synonym: "Absence of parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Absent stensen duct" EXACT [] synonym: "Agenesis of parotid duct" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of stensen duct" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of stensen duct" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing parotid duct" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing stensen duct" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1858569 xref: UMLS:C4280674 is_a: HP:0000197 ! Abnormal parotid gland morphology [Term] id: HP:0000199 name: Tongue nodules synonym: "Lingual nodules" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0241438 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000200 name: Short lingual frenulum def: "The presence of an abnormally short lingual frenulum." [https://orcid.org/0000-0002-0736-9199] synonym: "Deficiency of lingual frenulum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lingual frenulum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lingual frenum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of tongue frenulum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of tongue frenum" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Short lingual frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short tongue frenulum" EXACT [] synonym: "Short tongue frenum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tight lingual frenulum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249388005 xref: UMLS:C0426501 xref: UMLS:C4280673 is_a: HP:0000190 ! Abnormal oral frenulum morphology [Term] id: HP:0000201 name: Pierre-Robin sequence def: "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [https://orcid.org/0000-0002-0736-9199] synonym: "Pierre Robin sequence" EXACT [] synonym: "Pierre-robin anomaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pierre-robin deformity" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pierre-robin malformation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Robin sequence" EXACT [] xref: MSH:D010855 xref: SNOMEDCT_US:4602007 xref: UMLS:C0031900 is_a: HP:0031816 ! Abnormal oral morphology [Term] id: HP:0000202 name: Orofacial cleft def: "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [https://orcid.org/0000-0002-0736-9199, PMID:21331089] synonym: "Cleft lip, cleft palate" NARROW [] synonym: "Cleft lip/palate" RELATED [] synonym: "Cleft of the mouth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oral cleft" EXACT [] synonym: "Oral clefting" EXACT [] xref: SNOMEDCT_US:253983005 xref: SNOMEDCT_US:66948001 xref: UMLS:C0158646 xref: UMLS:C4021813 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000204 name: Cleft upper lip def: "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [https://orcid.org/0000-0002-0736-9199] synonym: "Cheiloschisis of upper lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft of upper lip" RELATED layperson [] synonym: "Cleft upper lip" EXACT layperson [] synonym: "Harelip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4875 xref: MSH:D002971 xref: SNOMEDCT_US:80281008 xref: UMLS:C0008924 is_a: HP:0000177 ! Abnormal upper lip morphology is_a: HP:0410030 ! Cleft lip [Term] id: HP:0000205 name: Pursed lips def: "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [https://orcid.org/0000-0002-0736-9199] synonym: "Pursed lips" EXACT layperson [] synonym: "Tightly closed lips" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1832130 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000206 name: Glossitis def: "Inflammation of the tongue." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Inflammation of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual inflammation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Smooth swollen tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D005928 xref: SNOMEDCT_US:45534005 xref: UMLS:C0017675 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000207 name: Triangular mouth def: "The presence of a triangular form of the mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Triangular mouth" EXACT layperson [] synonym: "Triangular shaped mouth" EXACT layperson [] synonym: "Triangular shaped oral aperture" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849341 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000211 name: Trismus def: "Limitation in the ability to open the mouth." [https://orcid.org/0000-0002-0736-9199] synonym: "Decrease in jaw mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in jaw movement" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in jaw opening" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in mandibular mobility" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in mandibular movement" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decrease in mandibular opening" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Limited jaw mobility" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Limited jaw movement" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Limited jaw opening" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Limited mandibular mobility" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Limited mandibular opening" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Limited mouth opening" BROAD layperson [] synonym: "Lockjaw" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pain of muscles of mastication" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MSH:D014313 xref: SNOMEDCT_US:87866006 xref: UMLS:C0041105 xref: UMLS:C1848474 xref: UMLS:C4228933 xref: UMLS:C4280672 is_a: HP:0000277 ! Abnormal mandible morphology [Term] id: HP:0000212 name: Gingival overgrowth alt_id: HP:0000195 def: "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [PMID:19125428] comment: This finding is to be distinguished from overgrowth of the alveolar ridge. subset: hposlim_core synonym: "Gingival enlargement" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival hyperplasia" EXACT [] synonym: "Gum enlargement" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gum hypertrophy" EXACT [] synonym: "Hypertrophic gingivitis" EXACT [] synonym: "Oral soft tissue hyperplasia" RELATED [] xref: MSH:D005885 xref: MSH:D005886 xref: MSH:D019214 xref: SNOMEDCT_US:441787004 xref: SNOMEDCT_US:441798003 xref: SNOMEDCT_US:54711002 xref: UMLS:C0017566 xref: UMLS:C0017567 xref: UMLS:C0376480 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000214 name: Lip telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasias of the lip" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Labial angioectasias" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Labial telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lip telangiectases" EXACT [] synonym: "Spider veins of the lip" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of the lips" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1857697 xref: UMLS:C4280670 xref: UMLS:C4280671 is_a: HP:0000159 ! Abnormal lip morphology is_a: HP:0000228 ! Oral cavity telangiectasia [Term] id: HP:0000215 name: Thick upper lip vermilion alt_id: HP:0000231 def: "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. subset: hposlim_core synonym: "Full upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Full upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of upper lip vermilion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plump upper lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent upper lip" EXACT layperson [] synonym: "Prominent upper lip vermilion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Thick red part of the upper lip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick upper lip" EXACT layperson [https://orcid.org/0009-0006-4530-3154] synonym: "Thick vermilion border of upper lip" EXACT [] xref: UMLS:C1846423 is_a: HP:0011339 ! Abnormality of upper lip vermillion is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000216 name: Broad secondary alveolar ridge synonym: "Secondary alveolar ridges" EXACT [] xref: UMLS:C1839276 is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0000217 name: Xerostomia alt_id: HP:0002709 alt_id: HP:0100756 def: "Dryness of the mouth due to salivary gland dysfunction." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased salivary flow" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dry mouth" EXACT layperson [] synonym: "Dry mouth syndrome" EXACT layperson [] synonym: "Reduced salivation" EXACT layperson [] xref: MSH:D014987 xref: SNOMEDCT_US:300268000 xref: SNOMEDCT_US:56893005 xref: SNOMEDCT_US:87715008 xref: UMLS:C0043352 is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0000218 name: High palate alt_id: HP:0000156 alt_id: HP:0009080 alt_id: HP:0009082 alt_id: HP:0009097 def: "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and 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: MSH:D014681 xref: SNOMEDCT_US:229727006 xref: SNOMEDCT_US:232416001 xref: SNOMEDCT_US:278714002 xref: UMLS:C0042454 xref: UMLS:C4280669 is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000221 name: Furrowed tongue def: "Accentuation of the grooves on the dorsal surface of the tongue." [PMID:19125428] comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. subset: hposlim_core synonym: "Fissured tongue" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Grooved tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Lingua plicata" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Lingual furrow" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plicated tongue" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Prominent tongue grooves" EXACT [] synonym: "Scrotal tongue" EXACT [] xref: MSH:D014063 xref: SNOMEDCT_US:52368004 xref: UMLS:C0040412 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000222 name: Gingival hyperkeratosis alt_id: HP:0007539 def: "Hyperkeratosis of the gingiva." [https://orcid.org/0000-0002-9338-3017] comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. synonym: "Hyperkeratosis, gingival" EXACT [] xref: UMLS:C1857013 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000223 name: Abnormality of taste sensation synonym: "Abnormality of taste sensation" EXACT layperson [] xref: UMLS:C4025879 is_a: HP:0012638 ! Abnormal nervous system physiology is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0000224 name: Hypogeusia def: "A decreased ability to perceive flavor." [] synonym: "Decreased taste" EXACT layperson [] synonym: "Decreased taste sensation" EXACT layperson [] xref: MSH:D000370 xref: SNOMEDCT_US:697990000 xref: UMLS:C0151934 is_a: HP:0000223 ! Abnormality of taste sensation [Term] id: HP:0000225 name: Gingival bleeding alt_id: HP:0000167 def: "Hemorrhage affecting the gingiva." [https://orcid.org/0000-0002-9338-3017] synonym: "Bleeding gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gingival haemorrhage" EXACT uk_spelling [] synonym: "Gingival hemorrhage" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Gingivorrhagia" EXACT [] xref: MSH:D005884 xref: SNOMEDCT_US:86276007 xref: UMLS:C0017565 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000227 name: Tongue telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasias of the tongue" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual angioectasias" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of the tongue" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025878 xref: UMLS:C4280668 is_a: HP:0000228 ! Oral cavity telangiectasia is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000228 name: Oral cavity telangiectasia def: "Presence of telangiectases in the oral cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasias of the mouth" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Angioectasias of the oral cavity" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Oral cavity teleangiectasia" EXACT [] synonym: "Spider veins of the mouth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of the oral cavity" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025877 xref: UMLS:C4280667 is_a: HP:0011830 ! Abnormal oral mucosa morphology is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000230 name: Gingivitis def: "Inflammation of the gingiva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Gingival inflammation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Inflamed gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Red and swollen gums" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D005891 xref: SNOMEDCT_US:66383009 xref: UMLS:C0017574 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000232 name: Everted lower lip vermilion alt_id: HP:0000184 alt_id: HP:0002264 alt_id: HP:0002712 alt_id: HP:0004665 alt_id: HP:0009086 alt_id: HP:0009093 def: "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [PMID:19125428] comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. subset: hposlim_core synonym: "Drooping lower lip" EXACT layperson [] synonym: "Eclabium of lower lip" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Everted lower lip" EXACT [] synonym: "Everted prominent lower lip" EXACT [] synonym: "Outward turned lower lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding lower lip" RELATED layperson [] xref: UMLS:C1853246 xref: UMLS:C1866234 is_a: HP:0000178 ! Abnormal lower lip morphology is_a: HP:0012472 ! Eclabion [Term] id: HP:0000233 name: Thin vermilion border alt_id: HP:0000213 def: "Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips)." [https://orcid.org/0000-0002-0736-9199, PMID:19125428] comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. synonym: "Decreased volume of lip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of lip vermillion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin lips" EXACT layperson [] synonym: "Thin vermilion borders" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Thin vermillion" EXACT [] xref: SNOMEDCT_US:301348000 xref: UMLS:C0578038 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000234 name: Abnormality of the head def: "An abnormality of the head." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal head" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the head" EXACT layperson [] synonym: "Head abnormality" EXACT layperson [] xref: UMLS:C4021812 is_a: HP:0000152 ! Abnormality of head or neck [Term] id: HP:0000235 name: Abnormality of the fontanelles or cranial sutures def: "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments)." [https://orcid.org/0000-0002-0736-9199, PMID:12825844] comment: Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. xref: UMLS:C4025876 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000236 name: Abnormality of the anterior fontanelle def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the forehead soft spot" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025875 is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0000237 name: Small anterior fontanelle def: "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Small anterior fontanel" EXACT [] synonym: "Small forehead fontanel" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859455 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0000238 name: Hydrocephalus alt_id: HP:0007189 alt_id: HP:0008503 def: "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [https://orcid.org/0000-0002-0736-9199, PMID:18211712, PMID:19410151] comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. synonym: "Hydrocephaly" EXACT [] synonym: "Nonsyndromal hydrocephalus" EXACT [] synonym: "Too much cerebrospinal fluid in the brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D006849 xref: SNOMEDCT_US:230745008 xref: UMLS:C0020255 is_a: HP:0002118 ! Abnormal cerebral ventricle morphology is_a: HP:0002921 ! Abnormal cerebrospinal fluid morphology [Term] id: HP:0000239 name: Large fontanelles alt_id: HP:0004473 def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [https://orcid.org/0000-0002-0736-9199] comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). synonym: "Enlarged fontanelles" EXACT [] synonym: "Large bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Large fontanel" EXACT [] synonym: "Large fontanelle" EXACT [] synonym: "Large fontanels" EXACT [] synonym: "Large, late-closing fontanelle" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Persistent wide fontanel" EXACT [] synonym: "Wide bregma sutures" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Wide fontanelles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:276709006 xref: UMLS:C0456132 xref: UMLS:C4072820 xref: UMLS:C4072821 xref: UMLS:C4072822 is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0000240 name: Abnormality of skull size def: "Any abnormality of the size of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranium size" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of head size" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of skull size" EXACT layperson [] xref: UMLS:C4025874 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000242 name: Parietal bossing alt_id: HP:0004641 def: "Parietal bossing is a marked prominence in the parietal region." [https://orcid.org/0000-0002-0736-9199] synonym: "Biparietal bossing" EXACT [] synonym: "Bossing of parietal bone" EXACT [] xref: UMLS:C1857126 is_a: HP:0002696 ! Abnormal parietal bone morphology [Term] id: HP:0000243 name: Trigonocephaly def: "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." [PMID:19125436] comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. subset: hposlim_core synonym: "Triangular cranium shape" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular skull shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wedge shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wedge shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wedge shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:28740008 xref: UMLS:C0265535 xref: UMLS:C4280665 xref: UMLS:C4280666 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000244 name: Brachyturricephaly def: "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region." [PMID:8460563] synonym: "Brachy-turricephaly" EXACT [PMID:8460563] synonym: "High, prominent forehead" EXACT layperson [https://orcid.org/0000-0002-9353-5498] synonym: "Turribrachycephaly" EXACT [] xref: UMLS:C1857484 is_a: HP:0000248 ! Brachycephaly is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000245 name: Abnormal paranasal sinus morphology def: "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the paranasal sinuses" RELATED [] synonym: "Abnormality of the sinuses" BROAD layperson [] synonym: "Abnormality of the sinuses of the head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025873 is_a: HP:0002087 ! Abnormality of the upper respiratory tract is_a: HP:0011821 ! Abnormal facial skeleton morphology [Term] id: HP:0000246 name: Sinusitis def: "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Sinus disease" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Sinus infection" BROAD layperson [] synonym: "Sinus inflammation" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D010254 xref: MSH:D012852 xref: SNOMEDCT_US:36971009 xref: SNOMEDCT_US:7393007 xref: UMLS:C0030469 xref: UMLS:C0037199 is_a: HP:0000245 ! Abnormal paranasal sinus morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000248 name: Brachycephaly alt_id: HP:0002258 alt_id: HP:0004479 alt_id: HP:0008512 def: "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. subset: hposlim_core synonym: "Broad cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Broad head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short and broad skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Wide cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Wide head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:13649004 xref: UMLS:C0221356 xref: UMLS:C4072823 xref: UMLS:C4072824 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000250 name: Dense calvaria def: "An abnormal increase of density of the bones making up the calvaria." [https://orcid.org/0000-0002-0736-9199] synonym: "Dense skull cap" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1854834 is_a: HP:0002683 ! Abnormal calvaria morphology is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0000252 name: Microcephaly alt_id: HP:0001366 alt_id: HP:0005485 alt_id: HP:0005489 alt_id: HP:0005497 def: "Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition subset: hposlim_core synonym: "Abnormally small cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally small head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally small skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased circumference of cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced head circumference" EXACT layperson [] synonym: "small calvarium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "small cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Small head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small head circumference" EXACT layperson [] synonym: "Small skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4310 xref: SNOMEDCT_US:271611007 xref: UMLS:C4551563 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum is_a: HP:0040195 ! Decreased head circumference [Term] id: HP:0000253 name: Progressive microcephaly def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Microcephaly, postnatal, progressive" EXACT [] synonym: "Microcephaly, progressive" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Progressively abnormally small cranium" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Progressively abnormally small skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1850456 is_a: HP:0005484 ! Secondary microcephaly [Term] id: HP:0000255 name: Acute sinusitis def: "An acute form of sinusitis." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:15805002 xref: UMLS:C0149512 is_a: HP:0000246 ! Sinusitis [Term] id: HP:0000256 name: Macrocephaly alt_id: HP:0005491 alt_id: HP:0005496 alt_id: HP:0200135 def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [PMID:19125436] comment: Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. subset: hposlim_core synonym: "Big calvaria" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big cranium" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Big skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large calvaria" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Large cranium" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Large head" EXACT layperson [] synonym: "Large head circumference" EXACT layperson [] synonym: "Large skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Macrocephalus" EXACT [] synonym: "Macrocrania" EXACT [] synonym: "Megacephaly" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4335 xref: UMLS:C4083076 xref: UMLS:C4255213 xref: UMLS:C4280663 xref: UMLS:C4280664 is_a: HP:0040194 ! Increased head circumference [Term] id: HP:0000260 name: Wide anterior fontanel def: "Enlargement of the anterior fontanelle with respect to age-dependent norms." [https://orcid.org/0000-0002-0736-9199] synonym: "Large anterior fontanel" EXACT [] synonym: "Large anterior fontanelle" EXACT [] synonym: "Large anterior fontanels" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Large open anterior fontanel" EXACT [] synonym: "Large open anterior fontanelle" EXACT [] synonym: "Wide anterior fontanelle" EXACT [] synonym: "Wide open anterior fontanelle" EXACT [] synonym: "Wider-than-typical soft spot of skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1866134 is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0000262 name: Turricephaly alt_id: HP:0001356 def: "Tall head relative to width and length." [PMID:19125436] comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. subset: hposlim_core synonym: "Tall shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tall shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tall shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tower cranium shape" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tower skull shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Turricephalus" EXACT [] xref: MSH:D003398 xref: SNOMEDCT_US:48069004 xref: UMLS:C0030044 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000263 name: Oxycephaly def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Acrocephaly" RELATED [] xref: MSH:D003398 is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000264 name: Abnormal mastoid morphology def: "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of mastoid process of temporal bone" EXACT [] synonym: "Abnormality of the mastoid" EXACT [] xref: UMLS:C4025872 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000265 name: Mastoiditis xref: MSH:D008417 xref: SNOMEDCT_US:52404001 xref: UMLS:C0024904 is_a: HP:0000264 ! Abnormal mastoid morphology [Term] id: HP:0000267 name: Cranial asymmetry def: "Asymmetry of the bones of the skull." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cranial vault shape" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of cranium shape" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of head shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cranial vault asymmetry" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of cranial vault shape" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of cranium shape" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of head shape" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860245 xref: UMLS:C4280258 xref: UMLS:C4280657 xref: UMLS:C4280658 xref: UMLS:C4280659 xref: UMLS:C4280660 xref: UMLS:C4280661 xref: UMLS:C4280662 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000268 name: Dolichocephaly alt_id: HP:0000258 alt_id: HP:0005440 def: "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). subset: hposlim_core synonym: "Large dolichocephalic skull" NARROW [] synonym: "Long, narrow head" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Narrow cranium shape" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow head shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow skull shape" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tall and narrow skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Turridolichocephaly" BROAD [] xref: SNOMEDCT_US:72239002 xref: UMLS:C0221358 xref: UMLS:C4280653 xref: UMLS:C4280654 xref: UMLS:C4280655 xref: UMLS:C4280656 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0000269 name: Prominent occiput alt_id: HP:0004489 def: "Increased convexity of the occiput (posterior part of the skull)." [PMID:19125436] comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. subset: hposlim_core synonym: "Prominent back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent back of the skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent posterior skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding back of the head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding occiput" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853737 xref: UMLS:C4280652 is_a: HP:0011217 ! Abnormal shape of the occiput [Term] id: HP:0000270 name: Delayed cranial suture closure alt_id: HP:0002704 alt_id: HP:0003794 def: "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad late closing cranial sutures" EXACT [] synonym: "Delayed closure of fontanel" EXACT [] synonym: "Delayed closure of fontanelles" EXACT [] synonym: "Delayed closure of fontanels" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Delayed closure of the fontanelles" EXACT [] synonym: "Delayed cranial suture closure" EXACT layperson [] synonym: "Delayed fontanel closure" EXACT [] synonym: "Delayed fontanelle closure" EXACT [] synonym: "Late closing fontanelles" EXACT [] synonym: "Late closure of fontanelle" EXACT [] synonym: "Late-closing fontanelle" EXACT [] synonym: "Open sutures" EXACT [] xref: SNOMEDCT_US:82779003 xref: UMLS:C0277828 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0000271 name: Abnormality of the face def: "An abnormality of the face." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal face" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the countenance" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the face" EXACT layperson [] synonym: "Abnormality of the physiognomy" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the visage" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of face" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the face" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of the face" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial abnormality" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial anomaly" RELATED [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:118930001 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 xref: SNOMEDCT_US:398302004 xref: UMLS:C0266617 xref: UMLS:C1290857 xref: UMLS:C4025871 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000272 name: Malar flattening alt_id: HP:0000312 alt_id: HP:0000332 alt_id: HP:0004642 alt_id: HP:0004658 alt_id: HP:0004671 alt_id: HP:0005319 alt_id: HP:0005443 alt_id: HP:0005455 alt_id: HP:0100846 def: "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="https://orcid.org/0000-0001-5889-4463"} subset: hposlim_core synonym: "Decreased size of malar bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed malar region" EXACT [] synonym: "Flat cheekbone" EXACT [https://orcid.org/0000-0002-9353-5498] synonym: "Hypotrophic malar bone" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Malar hypoplasia" EXACT [] synonym: "Underdevelopment of malar bone" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Zygomatic flattening" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1858085 xref: UMLS:C4280651 is_a: HP:0010668 ! Abnormal zygomatic bone morphology [Term] id: HP:0000273 name: Facial grimacing synonym: "Facial grimacing" EXACT layperson [] xref: SNOMEDCT_US:37126005 xref: UMLS:C0234853 is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0000274 name: Small face def: "A face that is short and narrow." [https://orcid.org/0000-0002-0736-9199] comment: This term represents a combination of two terms, short face and narrow face. synonym: "Facial hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Microface" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Microfacies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Short and narrow face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small face" EXACT layperson [] synonym: "Small facies" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1855538 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000275 name: Narrow face alt_id: HP:0000318 def: "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [PMID:19125436] comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. subset: hposlim_core synonym: "Decreased breadth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased horizontal dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased transverse dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal deficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal insufficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow face" EXACT layperson [] synonym: "Narrow facies" EXACT [] synonym: "Thin face" RELATED layperson [] synonym: "Thin facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse deficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse hypoplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse insufficiency of face" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837463 xref: UMLS:C1849121 is_a: HP:0000274 ! Small face [Term] id: HP:0000276 name: Long face alt_id: HP:0000334 def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [PMID:19125436] comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. subset: hposlim_core synonym: "Elongation of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Long face" EXACT layperson [] synonym: "Long facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical elongation of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical enlargement of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical Facial Excess" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical overgrowth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836047 is_a: HP:0100729 ! Large face [Term] id: HP:0000277 name: Abnormal mandible morphology alt_id: HP:0000209 def: "Any abnormality of the mandible, the bone of the lower jaw." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the lower jaw bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the mandible" EXACT layperson [] synonym: "Anomaly of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the lower jaw bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the lower jaw bone" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the mandible" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025870 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0000278 name: Retrognathia alt_id: HP:0002053 alt_id: HP:0002954 def: "An abnormality in which the mandible is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Lower jaw retrognathia" EXACT [] synonym: "Receding chin" EXACT layperson [] synonym: "Receding lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Receding mandible" EXACT [] synonym: "Retrogenia" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Retrognathia of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Weak chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Weak jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D063173 xref: UMLS:C3494422 is_a: HP:0000277 ! Abnormal mandible morphology [Term] id: HP:0000280 name: Coarse facial features alt_id: HP:0000281 alt_id: HP:0004640 def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [PMID:19125436] subset: hposlim_core synonym: "Coarse face" EXACT [] synonym: "Coarse facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Coarse facial features" EXACT layperson [] synonym: "Coarse facies" EXACT [] synonym: "Rounded and heavy facial features" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened facial skin with coarse facial features" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845847 xref: UMLS:C4072825 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000282 name: Facial edema synonym: "Facial oedema" EXACT uk_spelling [] synonym: "Facial puffiness" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial swelling" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:445088006 xref: UMLS:C0542571 is_a: HP:0000969 ! Edema is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000283 name: Broad face def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [PMID:19125436] comment: Note that broad face is distinct from round face. subset: hposlim_core synonym: "Broad face" EXACT layperson [] synonym: "Broad facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Horizontal hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased horizontal dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased transverse dimension of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse excess of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse hyperplasia of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide facies" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859680 is_a: HP:0100729 ! Large face [Term] id: HP:0000284 name: obsolete Abnormality of the ocular region is_obsolete: true replaced_by: HP:0000315 [Term] id: HP:0000286 name: Epicanthus alt_id: HP:0000624 alt_id: HP:0007930 def: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [https://orcid.org/0000-0002-0736-9199] comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. subset: hposlim_core synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthal folds" EXACT [] synonym: "Epicanthic folds" EXACT [] synonym: "Eye folds" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Palpebronasal fold" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Plica palpebronasalis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent eye folds" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0678230 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000287 name: Increased facial adipose tissue def: "An increased amount of subcutaneous fat tissue in the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial fat hyperplasia" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Facial fat hypertrophy" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Increased amount of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased amount of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased volume of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025868 xref: UMLS:C4280649 xref: UMLS:C4280650 is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000288 name: Abnormality of the philtrum alt_id: HP:0011216 def: "An abnormality of the philtrum." [https://orcid.org/0000-0002-0736-9199] comment: The paralabial region is the region surrounding the lips and includes the philtrum. subset: hposlim_core synonym: "Abnormal philtrum" EXACT [] synonym: "Abnormality of the infranasal depression" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the paralabial region" EXACT [] xref: UMLS:C1857045 is_a: HP:0000177 ! Abnormal upper lip morphology [Term] id: HP:0000289 name: Broad philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [PMID:19152422] comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. subset: hposlim_core synonym: "Increased breadth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased horizontal dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased transverse dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide philtrum" EXACT [] xref: UMLS:C1854111 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000290 name: Abnormality of the forehead def: "An anomaly of the forehead." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the forehead" EXACT layperson [] synonym: "Abnormality of the frontal region of the face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the forehead" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025867 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000291 name: Abnormality of facial adipose tissue synonym: "Abnormality of facial fat" EXACT layperson [] synonym: "Deformity of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of facial adipose tissue" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025866 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000292 name: Loss of facial adipose tissue def: "Loss of normal subcutaneous fat tissue in the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased amount of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased amount of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased volume of facial adipose tissue" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Loss of facial fat" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Loss of facial subcutaneous adipose tissue" EXACT [] synonym: "Loss of subcutaneous adipose tissue from face" EXACT [] xref: UMLS:C1837767 is_a: HP:0000291 ! Abnormality of facial adipose tissue is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0000293 name: Full cheeks alt_id: HP:0002262 alt_id: HP:0004427 def: "Increased prominence or roundness of soft tissues between zygomata and mandible." [https://orcid.org/0000-0002-2972-5481] subset: hposlim_core synonym: "Apple cheeks" EXACT layperson [] synonym: "Big cheeks" EXACT layperson [] synonym: "Chubby cheeks" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Full cheeks" EXACT layperson [] synonym: "Hyperplasia of cheeks" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of cheeks" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of cheeks" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large cheeks" EXACT layperson [] synonym: "Puffy cheeks" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1866231 xref: UMLS:C2748653 xref: UMLS:C3806443 xref: UMLS:C4280647 xref: UMLS:C4280648 is_a: HP:0004426 ! Abnormal cheek morphology [Term] id: HP:0000294 name: Low anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [PMID:19125436] comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. subset: hposlim_core synonym: "Low frontal hairline" EXACT layperson [] synonym: "Low-set frontal hairline" EXACT layperson [] xref: UMLS:C1842366 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0000295 name: Doll-like facies def: "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [https://orcid.org/0000-0002-0736-9199] comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. synonym: "Doll-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1856361 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000297 name: Facial hypotonia def: "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199] synonym: "Atony of facial musculature" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotonic facies" EXACT [] synonym: "Low facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Reduced facial muscle tone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845251 xref: UMLS:C4280646 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001252 ! Hypotonia [Term] id: HP:0000298 name: Mask-like facies def: "A lack of facial expression often with staring eyes and a slightly open mouth." [https://orcid.org/0000-0002-0736-9199] comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. synonym: "Amimia" EXACT [] synonym: "Expressionless face" EXACT layperson [] synonym: "Lack of facial expression" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Mask-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Masklike facies" EXACT [] xref: SNOMEDCT_US:103606006 xref: UMLS:C0424448 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000300 name: Oval face def: "A face with a rounded and slightly elongated outline." [https://orcid.org/0000-0002-0736-9199] synonym: "Oval face" EXACT layperson [] synonym: "Oval facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Oval facies" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849025 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000301 name: Abnormality of facial musculature def: "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199] comment: Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. synonym: "Abnormality of facial muscles" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial muscle issue" EXACT layperson [] xref: UMLS:C4025865 is_a: HP:0011799 ! Abnormality of facial soft tissue is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0000303 name: Mandibular prognathia alt_id: HP:0000251 alt_id: HP:0000279 alt_id: HP:0000328 alt_id: HP:0002051 alt_id: HP:0004648 alt_id: HP:0004656 alt_id: HP:0008514 def: "Abnormal prominence of the chin related to increased length of the mandible." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Big lower jaw" EXACT layperson [] synonym: "Big mandible" EXACT [] synonym: "Enlarged mandible" EXACT [] synonym: "Enlargement of mandible" EXACT [] synonym: "Hyperplasia of lower jaw" EXACT [] synonym: "Hypertrophy of lower jaw" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of mandible" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased projection of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased projection of mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of mandible" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large lower jaw" EXACT layperson [] synonym: "Large mandible" EXACT [] synonym: "Lower jaw excess" EXACT [] synonym: "Lower jaw hyperplasia" EXACT [] synonym: "Macromandible" EXACT [] synonym: "Mandible prognathism" EXACT [] synonym: "Mandibular excess" EXACT [] synonym: "Mandibular hyperplasia" EXACT [] synonym: "Mandibular macrognathia" EXACT [] synonym: "Mandibular prognathism" EXACT [] synonym: "Prognathia" EXACT [] synonym: "Prognathism" EXACT [] synonym: "Prominent chin" EXACT layperson [] synonym: "Prominent jaw" EXACT [] synonym: "Prominent lower jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Relative mandibular prognathism" EXACT [] xref: MSH:D008313 xref: SNOMEDCT_US:109504005 xref: SNOMEDCT_US:22810007 xref: UMLS:C0302501 xref: UMLS:C0399526 xref: UMLS:C2227134 xref: UMLS:C4280644 xref: UMLS:C4280645 is_a: HP:0000277 ! Abnormal mandible morphology is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000306 name: Abnormality of the chin def: "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] subset: hposlim_core synonym: "Abnormality of the chin" EXACT layperson [] synonym: "Abnormality of the menton" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the chin" NARROW layperson [] synonym: "Deformity of the chin" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the chin" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025864 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000307 name: Pointed chin alt_id: HP:0005330 def: "A marked tapering of the lower face to the chin." [PMID:19125436] comment: The two rami of the mandible meet at an acute angle. subset: hposlim_core synonym: "Pointed chin" EXACT layperson [] synonym: "Pointed mention region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pointy chin" EXACT layperson [] synonym: "Small pointed chin" EXACT layperson [] synonym: "Witch's chin" EXACT layperson [] xref: UMLS:C1844505 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000308 name: Microretrognathia def: "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly." [https://orcid.org/0000-0002-0736-9199] synonym: "Retromicrognathia" EXACT [] synonym: "Small retruded chin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1839546 is_a: HP:0000278 ! Retrognathia is_a: HP:0000347 ! Micrognathia [Term] id: HP:0000309 name: Abnormal midface morphology alt_id: HP:0430026 def: "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] synonym: "Abnormal morphology of the midface" EXACT [] synonym: "Abnormality of the midface" EXACT layperson [] synonym: "Anomaly of the midface" EXACT [] synonym: "Deformity of the midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the midface" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021811 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000311 name: Round face alt_id: HP:0000304 alt_id: HP:0004653 def: "The facial appearance is more circular than usual as viewed from the front." [PMID:19125436] subset: hposlim_core synonym: "Circular face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Round face" EXACT layperson [] synonym: "Round facial appearance" EXACT layperson [] synonym: "Round facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Round facies" EXACT [] synonym: "Round, full face" BROAD [] xref: UMLS:C0239479 xref: UMLS:C1856468 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000315 name: Abnormality of the orbital region alt_id: HP:0000284 synonym: "Abnormality of the eye region" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the region around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the orbital region of the face" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025863 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000316 name: Hypertelorism alt_id: HP:0000578 alt_id: HP:0002001 alt_id: HP:0004657 alt_id: HP:0007871 def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] subset: hposlim_core synonym: "Excessive orbital separation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased distance between eye sockets" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased distance between eyes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased interpupillary distance" EXACT [] synonym: "Ocular hypertelorism" EXACT [] synonym: "Wide-set eyes" EXACT layperson [] synonym: "Widely spaced eyes" EXACT layperson [] synonym: "Widened interpupillary distance" EXACT [] xref: MSH:D006972 xref: SNOMEDCT_US:194021007 xref: SNOMEDCT_US:22006008 xref: UMLS:C0020534 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000317 name: Facial myokymia alt_id: HP:0004651 def: "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [https://orcid.org/0000-0002-0736-9199] comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. synonym: "Involuntary facial contraction" EXACT [] synonym: "Involuntary facial quivering" EXACT layperson [] xref: MSH:D005155 xref: SNOMEDCT_US:1070000 xref: UMLS:C0270871 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0002411 ! Myokymia [Term] id: HP:0000319 name: Smooth philtrum alt_id: HP:0000299 alt_id: HP:0000323 alt_id: HP:0004663 def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422] comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. synonym: "Decreased depth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat philtrum" EXACT [] synonym: "Indistinct philtrum" EXACT [] synonym: "Philtrum, smooth" EXACT [] synonym: "Shallow philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Simple philtrum" EXACT [] xref: UMLS:C1142533 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000320 name: Bird-like facies synonym: "Bird-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837758 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000321 name: Square face def: "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [PMID:19125436] synonym: "Square face" EXACT layperson [] synonym: "Square facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Square facies" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1832127 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000322 name: Short philtrum alt_id: HP:0200090 def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] subset: hposlim_core synonym: "Decreased height of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased vertical dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hypoplasia of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1861324 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000324 name: Facial asymmetry alt_id: HP:0003775 def: "An abnormal difference between the left and right sides of the face." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetric facies" EXACT [] synonym: "Asymmetry of face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of right and left side of face" EXACT [] synonym: "Crooked face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial asymmetry" EXACT layperson [] synonym: "Unbalanced face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unequal sides of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Uneven sides of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unsymmetrical face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D005146 xref: SNOMEDCT_US:15253005 xref: UMLS:C1306710 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000325 name: Triangular face alt_id: HP:0004645 alt_id: HP:0004662 alt_id: HP:0004668 def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [https://orcid.org/0000-0002-9602-2321, PMID:19125436] subset: hposlim_core synonym: "Face with broad temples and narrow chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular face" EXACT layperson [] synonym: "Triangular facial shape" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Triangular facies" EXACT [] xref: UMLS:C1835884 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000326 name: Abnormal maxilla morphology def: "An abnormality of the Maxilla (upper jaw bone)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the maxilla" EXACT [] synonym: "Abnormality of the upper jaw bone" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the maxilla" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the maxilla" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the upper jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the maxilla" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the upper jaw bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025862 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0000327 name: Hypoplasia of the maxilla alt_id: HP:0004644 def: "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased projection of maxilla" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased projection of upper jaw" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of maxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deficiency of upper jaw bones" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of upper jaw bones" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic maxillary bones" EXACT [] synonym: "Hypotrophic maxilla" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic upper jaw bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary hypoplasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary micrognathia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary retrognathia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Maxillary retrusion" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Micromaxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retrognathia of upper jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Retrusion of upper jaw bones" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Small maxilla" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small upper jaw" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper jaw deficiency" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper jaw retrusion" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0240310 xref: UMLS:C4082243 xref: UMLS:C4280640 xref: UMLS:C4280641 xref: UMLS:C4280642 xref: UMLS:C4280643 is_a: HP:0000326 ! Abnormal maxilla morphology [Term] id: HP:0000329 name: Facial hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Facial hemangiomata" EXACT [] xref: UMLS:C1861443 is_a: HP:0001028 ! Hemangioma is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000331 name: Short chin def: "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). synonym: "Decreased height of chin" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short chin" EXACT layperson [] synonym: "Short lower third of face" EXACT layperson [] synonym: "Small chin" RELATED layperson [] synonym: "Vertical deficiency of chin" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hypoplasia of chin" EXACT [] xref: SNOMEDCT_US:699439001 xref: UMLS:C1839323 xref: UMLS:C3697248 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000336 name: Prominent supraorbital ridges def: "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [PMID:19125436] subset: hposlim_core synonym: "Hyperplasia of supraorbital margins" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of supraorbital ridge" NARROW [] synonym: "Hypertrophy of supraorbital margins" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of supraorbital ridge" NARROW [] synonym: "Prominent brow" EXACT layperson [] synonym: "Prominent supraorbital margins" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent supraorbital ridge" EXACT [] synonym: "Protruding supraorbital ridge" EXACT [] synonym: "Supraorbital hyperostosis" EXACT [] xref: UMLS:C1842060 xref: UMLS:C4280636 xref: UMLS:C4280637 xref: UMLS:C4280638 xref: UMLS:C4280639 is_a: HP:0100538 ! Abnormality of the supraorbital ridges [Term] id: HP:0000337 name: Broad forehead alt_id: HP:0000352 alt_id: HP:0000354 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [PMID:19125436] comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. subset: hposlim_core synonym: "Bitemporal widening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Broad forehead" EXACT layperson [] synonym: "Increased bitemporal dimension" EXACT [] synonym: "Increased bitemporal width" EXACT [] synonym: "Increased width of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Intertemporal widening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Wide forehead" EXACT layperson [] xref: UMLS:C1849089 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000338 name: Hypomimic face alt_id: HP:0008769 def: "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation." [https://orcid.org/0000-0002-0736-9199] comment: The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. synonym: "Decreased facial expressions" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased facial muscle movement" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dull facial expression" EXACT layperson [] synonym: "Hypomimia" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:248149005 xref: UMLS:C0813217 xref: UMLS:C1862474 xref: UMLS:C4280635 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000339 name: Pugilistic facies def: "Coarse facial features reminiscent of those of a boxer." [https://orcid.org/0000-0002-0736-9199] synonym: "Boxer-like facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pugilistic facial appearance" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1846011 is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000340 name: Sloping forehead alt_id: HP:0000351 alt_id: HP:0004480 alt_id: HP:0008493 alt_id: HP:0008500 def: "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view." [PMID:19125436] comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. subset: hposlim_core synonym: "Inclined forehead" EXACT layperson [] synonym: "Posteriorly sloping forehead" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Receding forehead" EXACT layperson [] synonym: "Sloping forehead" EXACT layperson [] xref: UMLS:C1857679 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000341 name: Narrow forehead alt_id: HP:0000314 alt_id: HP:0004674 alt_id: HP:0004677 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [PMID:19125436] comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. subset: hposlim_core synonym: "Bitemporal narrowing" EXACT [] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] synonym: "Decreased width of the forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Intertemporal narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Narrow bitemporal width" EXACT [] synonym: "Narrow forehead" EXACT layperson [] synonym: "Temporal narrowness" EXACT [] xref: UMLS:C1839758 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000343 name: Long philtrum def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] subset: hposlim_core synonym: "Elongated philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased height of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased vertical dimension of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Vertical hyperplasia of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1865014 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000346 name: Whistling appearance def: "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [https://orcid.org/0000-0002-0736-9199, PMID:856233] synonym: "Whistling appearance" EXACT layperson [] synonym: "Whistling facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1848473 is_a: HP:0000205 ! Pursed lips [Term] id: HP:0000347 name: Micrognathia alt_id: HP:0000210 alt_id: HP:0000330 alt_id: HP:0000345 alt_id: HP:0002005 alt_id: HP:0002674 alt_id: HP:0004669 alt_id: HP:0005460 alt_id: HP:0005470 def: "Developmental hypoplasia of the mandible." [https://orcid.org/0000-0002-0736-9199] comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. subset: hposlim_core synonym: "Decreased projection of lower jaw" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased projection of mandible" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of lower jaw" EXACT [] synonym: "Decreased size of mandible" EXACT [] synonym: "Deficiency of lower jaw" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of mandible" EXACT [] synonym: "Hypoplastic mandible" EXACT [] synonym: "Hypoplastic mandible condyle" EXACT [] synonym: "Hypotrophic lower jaw" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic mandible" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Little lower jaw" EXACT layperson [] synonym: "Little mandible" EXACT [] synonym: "Lower jaw deficiency" EXACT [] synonym: "Lower jaw hypoplasia" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Lower jaw retrusion" EXACT [] synonym: "Mandibular deficiency" EXACT [] synonym: "Mandibular hypoplasia" EXACT [] synonym: "Mandibular micrognathia" EXACT [] synonym: "Mandibular retrognathia" EXACT [] synonym: "Mandibular retrusion" EXACT [] synonym: "Micrognathia of lower jaw" EXACT [] synonym: "Micromandible" EXACT [] synonym: "Retrusion of lower jaw" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Robin mandible" EXACT [] synonym: "Severe hypoplasia of mandible" EXACT [] synonym: "Small jaw" EXACT layperson [] synonym: "Small lower jaw" EXACT layperson [] synonym: "Small mandible" EXACT [] synonym: "Underdevelopment of lower jaw" EXACT [] synonym: "Underdevelopment of mandible" EXACT [] xref: Fyler:4163 xref: MSH:D008844 xref: SNOMEDCT_US:32958008 xref: UMLS:C0025990 xref: UMLS:C0240295 xref: UMLS:C1857130 is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible [Term] id: HP:0000348 name: High forehead alt_id: HP:0000342 def: "An abnormally increased height of the forehead." [https://orcid.org/0000-0002-0736-9199] synonym: "High forehead" EXACT layperson [] synonym: "Tall forehead" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0239676 xref: UMLS:C2677762 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000349 name: Widow's peak alt_id: HP:0004544 def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [PMID:19125436] comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. subset: hposlim_core synonym: "Hairline peak" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hairline point" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pointed frontal hairline" EXACT [] synonym: "Pointed hairline at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "V-shaped frontal hairline" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Widow's peak" EXACT layperson [] xref: UMLS:C1853486 is_a: HP:0009890 ! High anterior hairline [Term] id: HP:0000350 name: Small forehead def: "The presence of a forehead that is abnormally small." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased size of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of frontal region of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of forehead" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic forehead" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Small forehead" EXACT layperson [] xref: UMLS:C1845250 xref: UMLS:C4280633 xref: UMLS:C4280634 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000356 name: Abnormality of the outer ear alt_id: HP:0001752 def: "An abnormality of the external ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal pinnae" EXACT [] synonym: "Abnormality of the auricle" EXACT [] synonym: "Abnormality of the external ear" EXACT layperson [] synonym: "Abnormality of the outer ear" EXACT layperson [] synonym: "Ear anomalies" EXACT layperson [] synonym: "External ear malformations" EXACT layperson [] synonym: "Malformed pinnae" EXACT [] synonym: "Outer ear abnormality" EXACT layperson [] xref: SNOMEDCT_US:275259005 xref: UMLS:C0266589 xref: UMLS:C1846460 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000357 name: Abnormal location of ears def: "Abnormal location of the ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal location of ears" EXACT layperson [] synonym: "External ear position defect" EXACT [] xref: UMLS:C4021810 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000358 name: Posteriorly rotated ears alt_id: HP:0008535 def: "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. subset: hposlim_core synonym: "Ear, posterior angulation, increased" EXACT [] synonym: "Ears rotated toward back of head" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Posteriorly angulated ears" EXACT [] synonym: "Posteriorly rotated" EXACT [] synonym: "Posteriorly rotated auricles" EXACT [] synonym: "Posteriorly-angulated ears" EXACT [] synonym: "Posteriorly-rotated ears" EXACT [] xref: SNOMEDCT_US:253251006 xref: UMLS:C0431478 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000359 name: Abnormality of the inner ear def: "An abnormality of the inner ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the inner ear" EXACT layperson [] synonym: "Inner ear abnormality" EXACT layperson [] xref: UMLS:C4021809 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000360 name: Tinnitus def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [] subset: hposlim_core synonym: "Ringing in ears" EXACT layperson [] synonym: "Ringing in the ears" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D014012 xref: SNOMEDCT_US:162349004 xref: SNOMEDCT_US:162352007 xref: SNOMEDCT_US:60862001 xref: UMLS:C0040264 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000361 name: obsolete Pulsatile tinnitus (tympanic paraganglioma) is_obsolete: true replaced_by: HP:0008629 [Term] id: HP:0000362 name: Otosclerosis def: "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss." [https://orcid.org/0000-0002-0736-9199, PMID:15931303] comment: Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. subset: hposlim_core xref: MSH:D010040 xref: SNOMEDCT_US:11543004 xref: UMLS:C0029899 is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000363 name: Abnormal earlobe morphology def: "An abnormality of the lobule of pinna." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal earlobe" EXACT layperson [] synonym: "Abnormal lobe of ear" EXACT [] synonym: "Abnormality of auricular lobule" EXACT [] synonym: "Abnormality of ear lobe" EXACT layperson [] synonym: "Abnormality of earlobe" EXACT layperson [] synonym: "Abnormality of lobulus auriculae" EXACT [] xref: UMLS:C4021808 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000364 name: Hearing abnormality def: "An abnormality of the sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. synonym: "Abnormal hearing" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Hearing abnormality" EXACT layperson [] xref: UMLS:C4025860 is_a: HP:0031704 ! Abnormal ear physiology [Term] id: HP:0000365 name: Hearing impairment alt_id: HP:0000404 alt_id: HP:0001728 alt_id: HP:0001729 alt_id: HP:0001754 alt_id: HP:0008560 alt_id: HP:0008563 def: "A decreased magnitude of the sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. synonym: "Deafness" EXACT layperson [] synonym: "Hearing defect" EXACT layperson [] synonym: "Hearing impairment" EXACT layperson [] synonym: "Hearing loss" RELATED layperson [] synonym: "Hypacusis" EXACT [] synonym: "Hypoacusis" RELATED [] xref: Fyler:4868 xref: MSH:D003638 xref: MSH:D034381 xref: SNOMEDCT_US:103276001 xref: SNOMEDCT_US:15188001 xref: SNOMEDCT_US:343087000 xref: SNOMEDCT_US:95828007 xref: UMLS:C0011053 xref: UMLS:C0018772 xref: UMLS:C0339789 xref: UMLS:C1384666 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000366 name: Abnormality of the nose def: "An abnormality of the nose." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the nose" EXACT layperson [] synonym: "Anomaly of the nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal abnormality" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal anomaly" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal deformity" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal malformation" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:128274005 xref: SNOMEDCT_US:72089000 xref: UMLS:C0240547 xref: UMLS:C0265736 xref: UMLS:C2235909 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000368 name: Low-set, posteriorly rotated ears def: "Ears that are low-set and posteriorly rotated." [https://orcid.org/0000-0002-0736-9199] comment: This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. synonym: "Low-set posteriorly rotated ears" EXACT [] xref: UMLS:C1857486 is_a: HP:0000358 ! Posteriorly rotated ears is_a: HP:0000369 ! Low-set ears [Term] id: HP:0000369 name: Low-set ears def: "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] subset: hposlim_core synonym: "Low set ears" EXACT layperson [] synonym: "Low-set ears" EXACT layperson [] synonym: "Low-set pinnae" EXACT [] synonym: "Lowset ears" EXACT layperson [] synonym: "Melotia" EXACT [] xref: SNOMEDCT_US:95515009 xref: UMLS:C0239234 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000370 name: Abnormality of the middle ear def: "An abnormality of the middle ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Middle ear abnormalities" EXACT [] synonym: "Middle ear abnormality" EXACT [] xref: UMLS:C1861141 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000371 name: Acute otitis media def: "Acute otitis media is a short and generally painful infection of the middle ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:3110003 xref: UMLS:C0271429 is_a: HP:0000388 ! Otitis media [Term] id: HP:0000372 name: Abnormality of the auditory canal def: "An abnormality of the External acoustic tube (also known as the auditory canal)." [https://orcid.org/0000-0002-0736-9199] synonym: "Auditory canal abnormality" EXACT [] xref: UMLS:C4021807 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000375 name: Abnormal cochlea morphology def: "An abnormality of the cochlea." [https://orcid.org/0000-0002-0736-9199] comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain. synonym: "Abnormality of cochlea" EXACT [] xref: UMLS:C4025858 is_a: HP:0011390 ! 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:0008580 alt_id: HP:0008582 alt_id: HP:0008602 alt_id: HP:0040111 def: "An abnormality of the pinna, which is also referred to as the auricle or external ear." [https://orcid.org/0000-0002-0736-9199] comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. synonym: "Abnormal form of ears" EXACT [] synonym: "Abnormally shaped ears" EXACT layperson [] synonym: "Auricular malformation" EXACT layperson [] synonym: "Deformed auricles" EXACT [] synonym: "Deformed ears" EXACT layperson [] synonym: "Dysplastic ears" EXACT [] synonym: "Malformation of auricle" EXACT [] synonym: "Malformed auricles" EXACT [] synonym: "Malformed ears" EXACT layperson [] synonym: "Malformed external ears" EXACT [] synonym: "Minor malformation of the auricles" EXACT [] synonym: "Poorly defined conchae" EXACT [] xref: SNOMEDCT_US:253255002 xref: UMLS:C0431483 xref: UMLS:C0857379 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000378 name: Cupped ear alt_id: HP:0008531 alt_id: HP:0008600 def: "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [https://orcid.org/0000-0002-0736-9199, PMID:19162421, PMID:22073081] subset: hposlim_core synonym: "Capuchin ears" RELATED [] synonym: "Cup-shaped ears" EXACT layperson [] synonym: "Cupped ear" EXACT layperson [] synonym: "Cupped ears" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Simple, cup-shaped ears" EXACT layperson [] xref: UMLS:C1845447 xref: UMLS:C4020892 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000381 name: Stapes ankylosis def: "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)." [https://orcid.org/0000-0002-0736-9199, PMID:12089654] comment: Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. subset: hposlim_core synonym: "Stapes fixation" EXACT [] xref: UMLS:C1861326 is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000383 name: Abnormal periauricular region morphology synonym: "Abnormality of periauricular region" EXACT [] synonym: "Abnormality of the region around the ear" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the periauricular region" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025856 is_a: HP:0004426 ! Abnormal cheek morphology [Term] id: HP:0000384 name: Preauricular skin tag alt_id: HP:0008575 alt_id: HP:0100278 def: "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [https://orcid.org/0000-0002-0736-9199] synonym: "Ear tag" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Periauricular skin tag" EXACT [] synonym: "Preauricular acrochordon" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular fibroepithelial polyp" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Preauricular skin tags" EXACT [] synonym: "Preauricular tag" EXACT [] synonym: "Preauricular tags" EXACT [] synonym: "Skin tag in front of the ear" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Skin tag on the posterior cheek" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860816 xref: UMLS:C4072826 is_a: HP:0000383 ! Abnormal periauricular region morphology is_a: HP:0010609 ! Skin tags [Term] id: HP:0000385 name: Small earlobe alt_id: HP:0008616 def: "Reduced volume of the earlobe." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. subset: hposlim_core synonym: "Hypoplastic earlobes" EXACT [] synonym: "Hypoplastic lobules" EXACT [] synonym: "Small earlobe" EXACT layperson [] synonym: "Small earlobes" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1842680 is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000387 name: Absent earlobe def: "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] subset: hposlim_core synonym: "Absent ear lobes" EXACT [] synonym: "Absent earlobe" EXACT layperson [] synonym: "Earlobe, absent" EXACT layperson [] synonym: "Lobeless ears" EXACT layperson [] synonym: "Lobule aplasia" EXACT [] xref: UMLS:C1849364 is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000388 name: Otitis media def: "Inflammation or infection of the middle ear." [https://orcid.org/0000-0002-0736-9199] synonym: "Middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D010033 xref: SNOMEDCT_US:65363002 xref: UMLS:C0029882 is_a: HP:0000370 ! Abnormality of the middle ear is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000389 name: Chronic otitis media alt_id: HP:0008524 def: "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Chronic ear infection" RELATED [] synonym: "Chronic infections of the middle ear" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Chronic middle ear infection" RELATED layperson [] synonym: "Otitis media, chronic" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:21186006 xref: UMLS:C0271441 xref: UMLS:C0743359 is_a: HP:0000388 ! Otitis media [Term] id: HP:0000391 name: Thickened helices def: "Increased thickness of the helix of the ear." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Thick helix" EXACT [] xref: UMLS:C1837732 is_a: HP:0011039 ! Abnormal helix morphology [Term] id: HP:0000394 name: Lop ear def: "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. subset: hposlim_core xref: SNOMEDCT_US:76223006 xref: UMLS:C0266614 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000395 name: Prominent antihelix def: "The presence of an abnormally prominent antihelix." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1845272 is_a: HP:0009738 ! Abnormal antihelix morphology [Term] id: HP:0000396 name: Overfolded helix alt_id: HP:0001758 alt_id: HP:0008570 def: "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [https://orcid.org/0000-0002-0736-9199, PMID:19152421] comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. subset: hposlim_core synonym: "Over-folded helices" EXACT [] synonym: "Overfolded ears" EXACT layperson [] synonym: "Overfolded helices" EXACT [] xref: UMLS:C1837731 is_a: HP:0008544 ! Abnormally folded helix [Term] id: HP:0000399 name: Prelingual sensorineural hearing impairment alt_id: HP:0001731 def: "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech." [https://orcid.org/0000-0002-0736-9199] synonym: "Deafness, sensorineural, prelingual" EXACT [] synonym: "Prelingual sensorineural deafness" EXACT [] xref: UMLS:C4021806 is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0000400 name: Macrotia alt_id: HP:0000382 alt_id: HP:0000386 alt_id: HP:0000401 alt_id: HP:0001755 def: "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [PMID:19152421] comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. subset: hposlim_core synonym: "Large ears" EXACT layperson [] synonym: "Large pinnae" EXACT [] xref: SNOMEDCT_US:275480001 xref: SNOMEDCT_US:69056000 xref: UMLS:C0152421 xref: UMLS:C0554972 xref: UMLS:C1835581 xref: UMLS:C1848570 xref: UMLS:C1850189 xref: UMLS:C1855062 xref: UMLS:C1860838 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000402 name: Stenosis of the external auditory canal alt_id: HP:0000373 def: "An abnormal narrowing of the external auditory canal." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "External auditory canal stenosis" EXACT [] synonym: "Narrow auditory canals" EXACT [] synonym: "Narrow ear canal" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Narrow external auditory canals" EXACT [] synonym: "Narrow external auditory meatus" EXACT [] synonym: "Narrowing of passageway from outer ear to middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Stenotic external auditory canal" EXACT [] xref: SNOMEDCT_US:300127002 xref: SNOMEDCT_US:301061006 xref: UMLS:C0395837 xref: UMLS:C0576860 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000403 name: Recurrent otitis media alt_id: HP:0008622 alt_id: HP:0008623 alt_id: HP:0008624 def: "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent otitis media" EXACT [] synonym: "Multiple episodes of otitis media" EXACT [] synonym: "Otitis media, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent episodes of otitis media" EXACT [] synonym: "Recurrent middle ear infection" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Susceptibility to otitis media" EXACT [] xref: UMLS:C0747085 is_a: HP:0000388 ! Otitis media is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0000405 name: Conductive hearing impairment alt_id: HP:0000367 alt_id: HP:0008581 def: "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [https://orcid.org/0000-0002-0736-9199] comment: A conductive hearing impariment with greater than 90 dB loss. subset: hposlim_core synonym: "Conduction deafness" EXACT [] synonym: "Conductive deafness" EXACT layperson [] synonym: "Conductive hearing loss" EXACT layperson [] synonym: "Hearing loss, conductive" EXACT [] xref: MSH:D006314 xref: SNOMEDCT_US:44057004 xref: UMLS:C0018777 is_a: HP:0000365 ! Hearing impairment is_a: HP:0011452 ! Functional abnormality of the middle ear [Term] id: HP:0000407 name: Sensorineural hearing impairment alt_id: HP:0000374 alt_id: HP:0001753 alt_id: HP:0001916 alt_id: HP:0008538 alt_id: HP:0008553 alt_id: HP:0008565 alt_id: HP:0008576 alt_id: HP:0008611 alt_id: HP:0008613 alt_id: HP:0008614 def: "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [https://orcid.org/0000-0002-0736-9199] comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). subset: hposlim_core synonym: "Hearing loss, sensorineural" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Sensorineural deafness" EXACT [] synonym: "Sensorineural hearing loss" EXACT [] xref: MSH:D006319 xref: SNOMEDCT_US:60700002 xref: UMLS:C0018784 is_a: HP:0000365 ! Hearing impairment is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0000408 name: Progressive sensorineural hearing impairment alt_id: HP:0000397 alt_id: HP:0000406 alt_id: HP:0008592 alt_id: HP:0008601 alt_id: HP:0008617 def: "A progressive form of sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral progressive sensorineural hearing loss" EXACT [] synonym: "Hearing loss, progressive sensorineural" EXACT [] synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT [] synonym: "Hearing loss, sensorineural, progressive" EXACT [] synonym: "Progressive bilateral sensorineural hearing loss" EXACT [] synonym: "Sensorineural hearing loss, progressive" EXACT [] xref: UMLS:C1843156 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0001730 ! Progressive hearing impairment [Term] id: HP:0000410 name: Mixed hearing impairment def: "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Hearing loss, mixed" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Mixed hearing impairment" EXACT layperson [] synonym: "Mixed hearing loss" EXACT layperson [] xref: MSH:D046089 xref: SNOMEDCT_US:77507001 xref: UMLS:C0155552 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0000411 name: Protruding ear alt_id: HP:0000412 def: "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [PMID:19152421] synonym: "Prominent ear" EXACT layperson [] synonym: "Prominent ears" EXACT layperson [] synonym: "Protruding ears" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:275478007 xref: UMLS:C1305420 xref: UMLS:C1855285 is_a: HP:0000377 ! Abnormal pinna morphology [Term] id: HP:0000413 name: Atresia of the external auditory canal alt_id: HP:0008547 alt_id: HP:0008564 alt_id: HP:0008626 def: "Absence or failure to form of the external auditory canal." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent auditory canals" EXACT [] synonym: "Absent ear canal" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent external auditory canals" EXACT [] synonym: "Atresia of the external auditory canals" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Atretic auditory canal" EXACT [] synonym: "Atretic auditory canals" EXACT [] synonym: "Atretic external auditory canal" EXACT [] synonym: "Atretic external auditory canals" EXACT [] synonym: "Auditory canal atresia" EXACT [] synonym: "External acoustic meatus atresia" EXACT [] synonym: "External auditory canal atresia" EXACT [] synonym: "External auditory meatal atresia" EXACT [] synonym: "External auditory meatus atresia" EXACT [] xref: UMLS:C1398325 xref: UMLS:C1840305 xref: UMLS:C1857079 xref: UMLS:C1866190 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000414 name: Bulbous nose alt_id: HP:0000443 def: "Increased volume and globular shape of the anteroinferior aspect of the nose." [PMID:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. synonym: "Bulbous nasal tip" RELATED [] synonym: "Bulbous nose" EXACT layperson [] synonym: "Potato nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:C538354 xref: UMLS:C0240543 xref: UMLS:C1834118 xref: UMLS:C1855751 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000415 name: Abnormality of the choanae def: "Abnormality of the choanae (the posterior nasal apertures)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025855 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000417 name: Slender nose synonym: "Slender nose" EXACT layperson [] xref: UMLS:C1857645 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000418 name: Narrow nasal ridge def: "Decreased width of the nasal ridge." [PMID:19152422] comment: This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately. synonym: "Decreased width of dorsum of nose" EXACT [] synonym: "Decreased width of nasal dorsum" EXACT [] synonym: "Decreased width of nasal ridge" EXACT layperson [] synonym: "Narrow dorsum of nose" EXACT [] synonym: "Narrow nasal dorsum" EXACT [] synonym: "Narrow nasal ridge" EXACT layperson [] synonym: "Pinched nose" EXACT layperson [] synonym: "Thin dorsum of nose" EXACT [] synonym: "Thin nasal dorsum" EXACT [] synonym: "Thin nasal ridge" EXACT layperson [] xref: UMLS:C1837761 is_a: HP:0011119 ! Abnormal nasal dorsum morphology [Term] id: HP:0000419 name: Abnormal nasal septum morphology def: "An abnormality of the nasal septum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the nasal septum" EXACT layperson [] synonym: "Anomaly of nasal septum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of septum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:95433000 xref: UMLS:C0151790 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000420 name: Short nasal septum def: "Reduced superior to inferior length of the nasal septum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased length of nasal septum" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short nasal septum" EXACT layperson [] synonym: "Short septum of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844857 is_a: HP:0000419 ! Abnormal nasal septum morphology [Term] id: HP:0000421 name: Epistaxis def: "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose." [https://orcid.org/0000-0002-0736-9199] synonym: "Bloody nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Frequent nosebleeds" EXACT layperson [] synonym: "Nasal haemorrhage" EXACT uk_spelling [] synonym: "Nasal hemorrhage" EXACT [NCIT:C26766] synonym: "Nose bleed" EXACT layperson [NCIT:C26766] synonym: "Nose bleeding" EXACT layperson [] synonym: "Nosebleed" EXACT layperson [NCIT:C26766] xref: COHD:318556 xref: EFO:0003895 xref: ICD10:R04.0 xref: ICD9:784.7 xref: MSH:D004844 xref: NCIT:C26766 xref: SNOMEDCT_US:12441001 xref: SNOMEDCT_US:249366005 xref: UMLS:C0014591 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000422 name: Abnormal nasal bridge morphology alt_id: HP:0000423 def: "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge. subset: hposlim_core synonym: "Abnormality of the bridge of the nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the nasal bridge" EXACT layperson [] synonym: "Abnormality of the nasal root" EXACT [] synonym: "Deformity of the bridge of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal bridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the bridge of the nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal bridge" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021805 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000426 name: Prominent nasal bridge alt_id: HP:0000432 alt_id: HP:0000442 alt_id: HP:0004498 alt_id: HP:0005287 def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [PMID:19152422] comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. synonym: "Convex bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Convex nasal bridge" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Elevated nasal bridge" EXACT layperson [] synonym: "High nasal bridge" EXACT layperson [] synonym: "Prominent bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nasal bridge" EXACT layperson [] synonym: "Prominent nasal root" EXACT layperson [] synonym: "Protruding bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1854113 xref: UMLS:C4230640 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0000429 name: Abnormal morphology of the nasal alae def: "An abnormality of the Ala of nose." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. subset: hposlim_core synonym: "Abnormality of the nasal ala" EXACT [] synonym: "Abnormality of the nasal alae" EXACT [] synonym: "Abnormality of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal ala" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal ala" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal alar cartilage" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C2227020 xref: UMLS:C4021804 xref: UMLS:C4280631 xref: UMLS:C4280632 is_a: HP:0010938 ! Abnormal external nose morphology [Term] id: HP:0000430 name: Underdeveloped nasal alae alt_id: HP:0004497 alt_id: HP:0004507 alt_id: HP:0005276 alt_id: HP:0005277 alt_id: HP:0005286 def: "Thinned, deficient, or excessively arched ala nasi." [PMID:19152422] comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. subset: hposlim_core synonym: "Ala nasi, underdeveloped" EXACT [] synonym: "Alar cartilage hypoplasia" EXACT [] synonym: "Decreased size of nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic alae nasae" EXACT [] synonym: "Hypoplastic alae nasi" EXACT [] synonym: "Hypoplastic alar cartilage" EXACT [] synonym: "Hypoplastic alar nasae" EXACT [] synonym: "Hypoplastic nares" EXACT [] synonym: "Hypoplastic nasal alae" EXACT [] synonym: "Hypoplastic nasal wings" EXACT [] synonym: "Hypoplastic nostrils" EXACT [] synonym: "Nasal cartilage hypoplasia" EXACT [] synonym: "Small nasal alae" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thin hypoplastic alae nasi" EXACT [] synonym: "Underdeveloped tissue around nostril" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1834055 is_a: HP:0000429 ! Abnormal morphology of the nasal alae is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose [Term] id: HP:0000431 name: Wide nasal bridge alt_id: HP:0000424 alt_id: HP:0004500 alt_id: HP:0004504 alt_id: HP:0004650 alt_id: HP:0200139 def: "Increased breadth of the nasal bridge (and with it, the nasal root)." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. synonym: "Broad flat nasal bridge" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Broad nasal bridge" EXACT layperson [] synonym: "Broad nasal root" EXACT layperson [] synonym: "Broadened nasal bridge" EXACT layperson [] synonym: "Increased breadth of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal bridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal bridge broad" EXACT layperson [] synonym: "Nasal bridge, wide" EXACT [] synonym: "Wide bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nasal bridge" EXACT layperson [] synonym: "Widened nasal bridge" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C1839764 xref: UMLS:C1849367 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0000433 name: Abnormal nasal mucosa morphology synonym: "Abnormality of mucosa of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of mucous membrane of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of nasal mucous membrane" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the nasal mucosa" EXACT layperson [] xref: UMLS:C4025854 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000434 name: Nasal mucosa telangiectasia def: "Telangiectasia of the nasal mucosa." [https://orcid.org/0000-0002-0736-9199] synonym: "Angioectasia of mucosa of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Angioectasia of mucous membrane of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Angioectasia of nasal mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal mucous membrane telangiectasia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of mucosa of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of mucous membrane of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spider veins of nasal mucous membrane" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of mucosa of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of mucous membrane of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Telangiectasia of nasal mucous membrane" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025853 is_a: HP:0000433 ! Abnormal nasal mucosa morphology is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000436 name: Abnormal nasal tip morphology def: "An abnormality of the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. subset: hposlim_core synonym: "Abnormality of the nasal tip" EXACT layperson [] synonym: "Abnormality of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the nasal tip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of tip of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the nasal tip" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of tip of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025852 is_a: HP:0010938 ! Abnormal external nose morphology [Term] id: HP:0000437 name: Depressed nasal tip alt_id: HP:0005279 def: "Decreased distance from the nasal tip to the nasal base." [PMID:19152422] comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. subset: hposlim_core synonym: "Caved in nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed nasal tip" EXACT layperson [] synonym: "Depressed tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nasal tip" EXACT layperson [] synonym: "Flat tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattened nasal tip" EXACT layperson [] synonym: "Nasal tip, depressed" EXACT layperson [] synonym: "Nasal tip, recessed" EXACT [] synonym: "Nasal tip, retruded" EXACT [] synonym: "Retruded tip of nose" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1859717 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000444 name: Convex nasal ridge alt_id: HP:0003683 def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [PMID:19152422] subset: hposlim_core synonym: "Beaked nose" EXACT layperson [] synonym: "Beaklike protrusion" EXACT layperson [] synonym: "Convex dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Convex nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hooked nose" EXACT layperson [] synonym: "Polly beak nasal deformity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0240538 is_a: HP:0011119 ! Abnormal nasal dorsum morphology [Term] id: HP:0000445 name: Wide nose alt_id: HP:0000438 def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [PMID:19152422] subset: hposlim_core synonym: "Broad nose" EXACT layperson [] synonym: "Increased breadth of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal breadth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal width" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide nose" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C0426421 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000446 name: Narrow nasal bridge alt_id: HP:0100782 def: "Decreased width of the bony bridge of the nose." [PMID:19152422] comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. subset: hposlim_core synonym: "Narrow bridge of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nasal bridge" EXACT layperson [] synonym: "Narrow nasal root" EXACT [] synonym: "Nasal Bridge, Narrow" EXACT layperson [] synonym: "Nasal bridge, thin" EXACT layperson [] synonym: "Pinched bridge of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pinched nasal bridge" RELATED layperson [] xref: UMLS:C4551564 is_a: HP:0000422 ! Abnormal nasal bridge morphology [Term] id: HP:0000447 name: Pear-shaped nose synonym: "Pear-shaped nose" EXACT layperson [] xref: UMLS:C1853482 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000448 name: Prominent nose alt_id: HP:0000461 alt_id: HP:0005271 alt_id: HP:0200140 def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [PMID:19152422] subset: hposlim_core synonym: "Big nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Disproportionately large nose" EXACT layperson [] synonym: "Hyperplasia of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of nose" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Increased nasal size" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large nose" EXACT layperson [] synonym: "Nasal hyperplasia" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal hypertrophy" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent nose" EXACT layperson [] synonym: "Pronounced nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249311009 xref: UMLS:C0426415 xref: UMLS:C1400105 xref: UMLS:C4280629 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000451 name: Triangular nasal tip synonym: "Triangular nasal tip" EXACT layperson [] synonym: "Triangular shaped tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839765 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000452 name: Choanal stenosis def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Coanal stenosis" EXACT [] synonym: "Narrowing of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:306963008 xref: UMLS:C0584837 is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000453 name: Choanal atresia alt_id: HP:0000416 alt_id: HP:0004496 alt_id: HP:0004503 def: "Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral." [https://orcid.org/0000-0001-5889-4463, PMID:4996574] subset: hposlim_core synonym: "Blockage of the rear opening of the nasal cavity" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: Fyler:4203 xref: MSH:D002754 xref: SNOMEDCT_US:204508009 xref: UMLS:C0008297 is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000454 name: Flared nostrils synonym: "Flared nasal alae" EXACT [] synonym: "Flared nostrils" EXACT layperson [] xref: SNOMEDCT_US:21558008 xref: SNOMEDCT_US:248568003 xref: UMLS:C0277873 is_a: HP:0000429 ! Abnormal morphology of the nasal alae [Term] id: HP:0000455 name: Broad nasal tip alt_id: HP:0004501 alt_id: HP:0005269 def: "Increase in width of the nasal tip." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. synonym: "Broad nasal tip" EXACT layperson [] synonym: "Broad tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad upturned nose" RELATED layperson [] synonym: "Broad, upturned nose" EXACT layperson [] synonym: "Increased breadth of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased breadth of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal tip, broad" EXACT layperson [] synonym: "Nasal tip, wide" EXACT layperson [] synonym: "Wide tip of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249327002 xref: UMLS:C0426429 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000456 name: Bifid nasal tip alt_id: HP:0005282 def: "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [https://orcid.org/0009-0006-4530-3154, PMID:19152422] comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. synonym: "Bifid tip of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft nasal tip" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Cleft tip of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Notched nasal tip" RELATED layperson [] synonym: "Notched tip of nose" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249326006 xref: UMLS:C0426428 xref: UMLS:C4020890 is_a: HP:0000436 ! Abnormal nasal tip morphology [Term] id: HP:0000457 name: Depressed nasal ridge def: "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [https://orcid.org/0000-0002-0736-9199, PMID:19152422] comment: The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. subset: hposlim_core synonym: "Depressed dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Depressed nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flat nose" EXACT layperson [] synonym: "Recessed dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Recessed nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Recessed nasal ridge" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Retruded dorsum of nose" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retruded nasal dorsum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Retruded nasal ridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1842876 is_a: HP:0011119 ! Abnormal nasal dorsum morphology [Term] id: HP:0000458 name: Anosmia def: "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Loss of smell" EXACT [] synonym: "Lost smell" EXACT layperson [] xref: MSH:D000857 xref: SNOMEDCT_US:44169009 xref: UMLS:C0003126 is_a: HP:0004408 ! Abnormality of the sense of smell [Term] id: HP:0000460 name: Narrow nose def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [PMID:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. synonym: "Decreased nasal breadth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased nasal width" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow nose" EXACT layperson [] synonym: "Thin nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:249322008 xref: UMLS:C0426422 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000463 name: Anteverted nares alt_id: HP:0000427 alt_id: HP:0000435 alt_id: HP:0000441 alt_id: HP:0004495 def: "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. synonym: "Anteverted nose" EXACT [] synonym: "Anteverted nostrils" EXACT [] synonym: "Nasal tip, upturned" EXACT layperson [] synonym: "Nostrils anteverted" EXACT [] synonym: "Upturned nares" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Upturned nasal tip" EXACT layperson [] synonym: "Upturned nasal tips" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Upturned nose" EXACT layperson [] synonym: "Upturned nostrils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:708670007 xref: UMLS:C1840077 is_a: HP:0000429 ! Abnormal morphology of the nasal alae is_a: HP:0005288 ! Abnormal nostril morphology [Term] id: HP:0000464 name: Abnormality of the neck def: "An abnormality of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the neck" EXACT layperson [] synonym: "Anomaly of the neck" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:298390003 xref: SNOMEDCT_US:40052002 xref: UMLS:C0266623 xref: UMLS:C0575167 xref: UMLS:C4280628 is_a: HP:0000152 ! Abnormality of head or neck [Term] id: HP:0000465 name: Webbed neck def: "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [https://orcid.org/0000-0002-0736-9199, PMID:24523736] subset: hposlim_core synonym: "Neck webbing" EXACT layperson [] synonym: "Pterygium colli" EXACT [] synonym: "Webbed neck" EXACT layperson [] xref: SNOMEDCT_US:11731003 xref: UMLS:C0221217 is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000466 name: Limited neck range of motion synonym: "Limited cervical range of motion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Limited neck range of motion" EXACT layperson [] xref: UMLS:C1859212 is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0000467 name: Neck muscle weakness def: "Decreased strength of the neck musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Flaccid neck" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Floppy neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Neck muscle weakness" EXACT layperson [] xref: UMLS:C0240479 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0000468 name: Increased adipose tissue around the neck def: "An increased amount of subcutaneous fat tissue around the neck." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased fat around the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025850 is_a: HP:0009126 ! Increased adipose tissue is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000470 name: Short neck alt_id: HP:0005992 alt_id: HP:0200137 def: "Diminished length of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cervical shortening" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased cervical height" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased cervical length" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased length of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Short neck" EXACT layperson [] xref: SNOMEDCT_US:95427009 xref: UMLS:C0521525 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000471 name: Gastrointestinal angiodysplasia def: "Dysplasia affecting the vasculature of the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "GI angiodysplasia" EXACT abbreviation [] xref: UMLS:C0854242 is_a: HP:0004296 ! Abnormal gastrointestinal vascular morphology [Term] id: HP:0000472 name: Long neck def: "Increased inferior-superior length of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cervical elongation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Elongated neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased cervical length" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased length of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long neck" EXACT layperson [] xref: UMLS:C1839816 is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000473 name: Torticollis def: "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [https://orcid.org/0000-0002-0736-9199] comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. synonym: "Cervical dystonia" EXACT [] synonym: "Loxia" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Spasmodic torticollis" EXACT [] synonym: "Wry neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D014103 xref: SNOMEDCT_US:270476009 xref: SNOMEDCT_US:70070008 xref: SNOMEDCT_US:74333002 xref: UMLS:C0040485 xref: UMLS:C0152116 xref: UMLS:C0949445 is_a: HP:0011006 ! Abnormal morphology of the musculature of the neck is_a: HP:0011442 ! Abnormal central motor function is_a: HP:0012179 ! Craniofacial dystonia [Term] id: HP:0000474 name: Thickened nuchal skin fold alt_id: HP:0000477 def: "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome." [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:30431620] comment: The measurement of nuchal fold (NF) thickness during the second trimester is considered to be one of the most sensitive and specific isolated ultrasound marker for the identification of suspected cases of trisomy 21. Thick NF may also be seen in other aneuploidies as well as Turner's syndrome, Noonan's syndrome, Roberts syndrome, Zellweger syndrome and with congenital heart disease and with pathogenic CNVs. A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). subset: hposlim_core synonym: "Excess nuchal skin" EXACT [] synonym: "Increased nuchal fold" EXACT [] synonym: "Increased nuchal fold thickness" EXACT [] synonym: "Thick nuchal fold" EXACT [] synonym: "Thickened nuchal skin" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened skin folds of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thickened skin over the neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1836940 is_a: HP:0011425 ! Fetal ultrasound soft marker is_a: HP:0025667 ! Fetal neck anomaly [Term] id: HP:0000475 name: Broad neck def: "Increased side-to-side width of the neck." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Broad neck" EXACT layperson [] synonym: "Increased width of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thick neck" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1853638 is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000476 name: Cystic hygroma def: "A cystic lymphatic lesion of the neck." [https://orcid.org/0000-0002-0736-9199] comment: Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck. synonym: "Cystic hygroma of the neck" EXACT [] xref: MSH:D018191 xref: NCIT:C8965 xref: SNOMEDCT_US:399882002 xref: SNOMEDCT_US:40225001 xref: SNOMEDCT_US:423984004 xref: UMLS:C0206620 is_a: HP:0025668 ! Abnormal neck morphology [Term] id: HP:0000478 name: Abnormality of the eye def: "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal eye" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the eye" EXACT layperson [] synonym: "Eye disease" RELATED layperson [] xref: MSH:D005124 xref: MSH:D005128 xref: SNOMEDCT_US:19416009 xref: SNOMEDCT_US:371405004 xref: SNOMEDCT_US:371409005 xref: UMLS:C0015393 xref: UMLS:C0015397 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000479 name: Abnormal retinal morphology alt_id: HP:0007938 def: "A structural abnormality of the retina." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal retina" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the retina" EXACT [] synonym: "Anomaly of the retina" EXACT [] synonym: "Retina issue" EXACT layperson [] synonym: "Retinal disease" RELATED [] xref: MSH:D012164 xref: SNOMEDCT_US:29555009 xref: UMLS:C0035300 xref: UMLS:C0035309 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000480 name: Retinal coloboma alt_id: HP:0007808 def: "A notch or cleft of the retina." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hole in the back of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C3540764 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000481 name: Abnormal cornea morphology alt_id: HP:0007771 alt_id: HP:0007972 def: "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the cornea" EXACT [] synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] synonym: "Cornela disease" RELATED [] xref: UMLS:C1855670 xref: UMLS:C4020889 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000482 name: Microcornea alt_id: HP:0100688 def: "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [https://orcid.org/0000-0002-0736-9199] comment: Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood. subset: hposlim_core synonym: "Cornea of eye less than 10mm in diameter" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Decreased corneal diameter" EXACT [] xref: SNOMEDCT_US:26098002 xref: UMLS:C0266544 xref: UMLS:C1167713 is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000483 name: Astigmatism def: "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. subset: hposlim_core synonym: "Abnormal curving of the cornea or lens of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Astigmatism" EXACT layperson [] xref: MSH:D001251 xref: SNOMEDCT_US:82649003 xref: UMLS:C0004106 is_a: HP:0000539 ! Abnormality of refraction is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0000484 name: Hyperopic astigmatism def: "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:449734001 xref: UMLS:C1847524 is_a: HP:0000483 ! Astigmatism [Term] id: HP:0000485 name: Megalocornea alt_id: HP:0007660 def: "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Anterior megalophthalmos" EXACT [] synonym: "Enlarged cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased corneal diameter" EXACT [] synonym: "Macrocornea" EXACT [] xref: MSH:C562829 xref: SNOMEDCT_US:204118005 xref: SNOMEDCT_US:268158009 xref: UMLS:C0344530 xref: UMLS:C1167712 is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000486 name: Strabismus alt_id: HP:0000487 def: "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:26319345] subset: hposlim_core synonym: "Cross-eyed" EXACT layperson [] synonym: "Squint" EXACT layperson [] synonym: "Squint eyes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:D013285 xref: SNOMEDCT_US:128602000 xref: SNOMEDCT_US:22066006 xref: UMLS:C0038379 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000487 name: obsolete Congenital strabismus is_obsolete: true replaced_by: HP:0000486 [Term] id: HP:0000488 name: Retinopathy def: "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Noninflammatory retina disease" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D012164 xref: SNOMEDCT_US:29555009 xref: UMLS:C0035309 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000489 name: obsolete Abnormality of globe location or size is_obsolete: true consider: HP:0100886 consider: HP:0100887 [Term] id: HP:0000490 name: Deeply set eye alt_id: HP:0000663 def: "An eye that is more deeply recessed into the plane of the face than is typical." [PMID:19125427] comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. subset: hposlim_core synonym: "Deep set eye" EXACT layperson [] synonym: "Deep-set eyes" EXACT layperson [] synonym: "Deeply set eye" EXACT layperson [] synonym: "Enophthalmos" EXACT [] synonym: "Ocular depression" EXACT [] synonym: "Sunken eye" EXACT layperson [] synonym: "Sunken eyes" EXACT [] xref: MSH:D015841 xref: SNOMEDCT_US:246923005 xref: SNOMEDCT_US:80093006 xref: UMLS:C0014306 xref: UMLS:C0423224 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000491 name: Keratitis def: "Inflammation of the cornea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Corneal inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D007634 xref: SNOMEDCT_US:5888003 xref: UMLS:C0022568 is_a: HP:0011495 ! Abnormal corneal epithelium morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000492 name: Abnormal eyelid morphology alt_id: HP:0000285 def: "An abnormality of the eyelids." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the eyelid" EXACT layperson [] synonym: "Abnormality of the eyelids" EXACT layperson [] xref: UMLS:C4021803 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000493 name: Abnormal foveal morphology def: "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the fovea" EXACT [] xref: UMLS:C4025849 is_a: HP:0001103 ! Abnormal macular morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-02T01:29:00Z [Term] id: HP:0000494 name: Downslanted palpebral fissures alt_id: HP:0007714 alt_id: HP:0007908 def: "The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] subset: hposlim_core synonym: "Antimongoloid eye slant" EXACT [] synonym: "Antimongoloid slant of palpebral fissures" EXACT [] synonym: "Antimongoloid slanted palpebral fissures" EXACT [] synonym: "Down slanting palpebral fissures" EXACT [] synonym: "Down-slanted palpebral fissures" EXACT [] synonym: "Down-slanting palpebral fissure" EXACT [] synonym: "Down-slanting palpebral fissures" EXACT [] synonym: "Downslanting palpebral fissure" EXACT [] synonym: "Downslanting palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Downward slanted palpebral fissures" EXACT [] synonym: "Downward slanting of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Downward slanting palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] xref: SNOMEDCT_US:246800008 xref: UMLS:C0423110 is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000495 name: Recurrent corneal erosions alt_id: HP:0007674 alt_id: HP:0007749 def: "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [https://orcid.org/0000-0002-0736-9199] synonym: "Corneal erosions, recurrent" EXACT [] synonym: "Epithelial corneal erosions" RELATED [] synonym: "Recurrent breakdown of clear protective layer of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Recurrent corneal ulceration" EXACT [] synonym: "Recurrent corneal ulcerations" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D003320 xref: SNOMEDCT_US:2055003 xref: SNOMEDCT_US:91514001 xref: UMLS:C0010043 xref: UMLS:C0155119 xref: UMLS:C4020888 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0000496 name: Abnormality of eye movement alt_id: HP:0006860 def: "An abnormality in voluntary or involuntary eye movements or their control." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal extraocular movement" EXACT [] synonym: "Abnormal extraocular movements" EXACT [] synonym: "Abnormal eye motility" EXACT [] synonym: "Abnormal eye movement" EXACT layperson [] synonym: "Abnormal eye movements" EXACT layperson [] synonym: "Abnormal motility of the globe of the eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal movement of the globe of the eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal ocular movements" EXACT [] synonym: "Abnormality of eye movement" EXACT layperson [] synonym: "Eye movement abnormalities" EXACT layperson [] synonym: "Eye movement issue" EXACT layperson [] synonym: "Ocular movement abnormalities" EXACT [] synonym: "Oculomotor abnormalities" EXACT [] xref: SNOMEDCT_US:103252009 xref: UMLS:C0497202 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000497 name: Globe retraction and deviation on abduction xref: UMLS:C4025848 is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000498 name: Blepharitis def: "Inflammation of the eyelids." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cellulitis of eyelids" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Inflammation of eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D001762 xref: SNOMEDCT_US:231796003 xref: SNOMEDCT_US:41446000 xref: UMLS:C0005741 xref: UMLS:C0339063 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000499 name: Abnormal eyelash morphology alt_id: HP:0004530 def: "An abnormality of the eyelashes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal eyelashes" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the eyelashes" EXACT layperson [] synonym: "Eyelash abnormality" EXACT layperson [] xref: UMLS:C2675111 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0001595 ! Abnormal hair morphology [Term] id: HP:0000501 name: Glaucoma def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [https://orcid.org/0000-0002-0736-9199, PMID:11815354] comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. subset: hposlim_core xref: MSH:D005901 xref: SNOMEDCT_US:23986001 xref: UMLS:C0017601 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000502 name: Abnormal conjunctiva morphology def: "An abnormality of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] comment: The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). subset: hposlim_core xref: UMLS:C4025847 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000503 name: Tortuosity of conjunctival vessels def: "The presence of an increased number of twists and turns of the conjunctival blood vessels." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1855391 is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature [Term] id: HP:0000504 name: Abnormality of vision def: "Abnormality of eyesight (visual perception)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of sight" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of vision" EXACT layperson [] synonym: "Vision issue" EXACT layperson [] xref: UMLS:C4025846 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000505 name: Visual impairment alt_id: HP:0000516 alt_id: HP:0000566 alt_id: HP:0007758 alt_id: HP:0007860 alt_id: HP:0007983 def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [https://orcid.org/0000-0001-8727-6592] subset: hposlim_core synonym: "Impaired vision" EXACT layperson [] synonym: "Loss of eyesight" EXACT layperson [] synonym: "Poor vision" EXACT layperson [] synonym: "Visual impairment" EXACT layperson [] xref: MSH:D014786 xref: MSH:D015354 xref: SNOMEDCT_US:246635007 xref: SNOMEDCT_US:397540003 xref: SNOMEDCT_US:7973008 xref: UMLS:C0042798 xref: UMLS:C3665347 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000506 name: Telecanthus def: "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [https://orcid.org/0000-0002-0736-9199] comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. subset: hposlim_core synonym: "Corners of eye widely separated" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dystopia canthorum" EXACT [] synonym: "Increased distance between medial canthi" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased intercanthal distance" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MSH:C562941 xref: SNOMEDCT_US:246803005 xref: UMLS:C0423113 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000508 name: Ptosis def: "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] subset: hposlim_core synonym: "Blepharoptosis" EXACT [] synonym: "Drooping upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Eye drop" RELATED layperson [] synonym: "Eyelid ptosis" EXACT [https://orcid.org/0000-0002-5316-1399] xref: MSH:D001763 xref: SNOMEDCT_US:11934000 xref: UMLS:C0005745 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000509 name: Conjunctivitis def: "Inflammation of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Conjunctivitis, recurrent" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Pink eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D003231 xref: SNOMEDCT_US:9826008 xref: UMLS:C0009763 xref: UMLS:C1864156 is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0025337 ! Red eye is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000510 name: Rod-cone dystrophy alt_id: HP:0000547 alt_id: HP:0001127 alt_id: HP:0007635 alt_id: HP:0007645 alt_id: HP:0007742 alt_id: HP:0007816 alt_id: HP:0007826 alt_id: HP:0007927 alt_id: HP:0008036 def: "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [https://orcid.org/0000-0002-0736-9199, PMID:20212494] comment: Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. subset: hposlim_core synonym: "Retinitis pigmentosa" EXACT [] synonym: "Rod cone dystrophy" EXACT [] xref: MSH:D012174 xref: SNOMEDCT_US:28835009 xref: UMLS:C0035334 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000511 name: Vertical supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [https://orcid.org/0000-0002-0736-9199, PMID:20671861] comment: Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze. synonym: "Vertical gaze palsy" EXACT [] xref: SNOMEDCT_US:246773002 xref: UMLS:C0339652 xref: UMLS:C1843369 is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0000512 name: Abnormal electroretinogram alt_id: HP:0003285 def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [https://orcid.org/0000-0002-0736-9199] comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. subset: hposlim_core synonym: "Abnormal electroretinography" EXACT [] synonym: "Abnormal ERG" EXACT [] synonym: "ERG abnormal" EXACT [] xref: SNOMEDCT_US:274524001 xref: UMLS:C0476397 is_a: HP:0030453 ! Abnormal visual electrophysiology [Term] id: HP:0000514 name: Slow saccadic eye movements def: "An abnormally slow velocity of the saccadic eye movements." [https://orcid.org/0000-0002-0736-9199] comment: Saccades are rapid eye movements that align the fovea with the target. subset: hposlim_core synonym: "Slow eye movements" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Slow saccades" EXACT [] synonym: "Slow visual tracking" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:404686001 xref: UMLS:C1321329 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000517 name: Abnormal lens morphology def: "An abnormality of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the lens" EXACT layperson [] synonym: "Lens disease" RELATED layperson [] synonym: "Lens issue" EXACT layperson [] xref: MSH:D007905 xref: SNOMEDCT_US:10810001 xref: UMLS:C0023308 xref: UMLS:C0549651 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000518 name: Cataract alt_id: HP:0001113 alt_id: HP:0007825 alt_id: HP:0010700 def: "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [https://orcid.org/0000-0002-0736-9199] comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). subset: hposlim_core synonym: "Cataracts" EXACT [] synonym: "Clouding of the lens of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Cloudy lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Lens opacities" EXACT [] synonym: "Lens opacity" EXACT [] xref: Fyler:4865 xref: MSH:D002386 xref: SNOMEDCT_US:128306009 xref: SNOMEDCT_US:193570009 xref: SNOMEDCT_US:247053007 xref: UMLS:C0086543 xref: UMLS:C1510497 is_a: HP:0000517 ! Abnormal lens morphology [Term] id: HP:0000519 name: Developmental cataract alt_id: HP:0001108 alt_id: HP:0007679 alt_id: HP:0007692 alt_id: HP:0007726 alt_id: HP:0007788 def: "A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens." [https://orcid.org/0000-0002-0736-9199] comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. subset: hposlim_core synonym: "Bilateral congenital cataracts" EXACT [] synonym: "Cataract, congenital" EXACT [] synonym: "Clouding of the lens of the eye at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Congenital cataract" EXACT [] synonym: "Congenital cataracts" EXACT [] synonym: "Congenital cataracts, bilateral" EXACT [] xref: SNOMEDCT_US:609587005 xref: SNOMEDCT_US:79410001 xref: UMLS:C0009691 xref: UMLS:C3277059 is_a: HP:0000518 ! Cataract is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0000520 name: Proptosis alt_id: HP:0000536 alt_id: HP:0000644 alt_id: HP:0000645 alt_id: HP:0007711 alt_id: HP:0007870 def: "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [https://orcid.org/0009-0006-4530-3154, PMID:19125427] comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. subset: hposlim_core synonym: "Anterior bulging of the globe" EXACT [] synonym: "Anterior bulging of the globe of eye" EXACT [] synonym: "Bulging eye" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Exophthalmos" EXACT [] synonym: "Eyeballs bulging out" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Ocular proptosis" EXACT [] synonym: "Prominent eyes" EXACT layperson [] synonym: "Prominent globes" EXACT layperson [] synonym: "Protruding eyes" EXACT layperson [] synonym: "Protrusio bulbi" EXACT [] xref: MSH:D005094 xref: SNOMEDCT_US:18265008 xref: UMLS:C0015300 xref: UMLS:C1837760 xref: UMLS:C1848490 xref: UMLS:C1862425 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000522 name: Alacrima def: "Absence of tear secretion." [https://orcid.org/0000-0002-0736-9199] comment: Alacrima is generally a congenital deficiency. subset: hposlim_core synonym: "Absence of tears in the eyes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Absent lacrimal fluids" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Absent tear secretion" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:C562827 xref: SNOMEDCT_US:253215004 xref: UMLS:C0344505 is_a: HP:0000633 ! Decreased lacrimation [Term] id: HP:0000523 name: Subcapsular cataract alt_id: HP:0001490 alt_id: HP:0007978 def: "A cataract that affects the region of the lens directly beneath the capsule of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Subcapsular cataracts" EXACT [] synonym: "Subcapsular lenticular cataracts" EXACT [] synonym: "Subcapsular opacities" EXACT [] xref: SNOMEDCT_US:95723009 xref: UMLS:C0235259 is_a: HP:0000518 ! Cataract [Term] id: HP:0000524 name: Conjunctival telangiectasia def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Conjunctival telangiectases" EXACT [] synonym: "Small dilated blood vessels near membrane covering front of eye and eyelids" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Telangiectasia, conjunctival" EXACT [] xref: SNOMEDCT_US:231870008 xref: UMLS:C0239105 is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000525 name: Abnormality iris morphology def: "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the iris" EXACT layperson [] xref: UMLS:C4025845 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000526 name: Aniridia alt_id: HP:0011498 def: "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:24138039, PMID:25313118, PMID:29850208] subset: hposlim_core synonym: "Absent iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D015783 xref: SNOMEDCT_US:69278003 xref: UMLS:C0003076 is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0000527 name: Long eyelashes alt_id: HP:0000500 def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [PMID:19125427, PMID:26288407] comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. subset: hposlim_core synonym: "Ciliary trichomegaly" EXACT [] synonym: "Eyelash trichomegaly" EXACT [] synonym: "Increased length of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long eyelashes" EXACT layperson [] synonym: "Unusually long eyelashes" EXACT layperson [] xref: UMLS:C1853738 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0000528 name: Anophthalmia alt_id: HP:0001485 alt_id: HP:0007664 def: "Absence of the globe or eyeball." [HPO_CONTRIBUTOR:DDD_ncarter] subset: hposlim_core synonym: "Absence of eyeballs" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of globes of eyes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Anophthalmia, clinical" EXACT [] synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT [] synonym: "Failure of development of eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing eyeball" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Missing globe of eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "No eyeball" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "No globe of eye" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Ocular absence" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: Fyler:4864 xref: MSH:D000853 xref: SNOMEDCT_US:204099004 xref: SNOMEDCT_US:7183006 xref: UMLS:C0003119 is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000529 name: Progressive visual loss alt_id: HP:0000560 alt_id: HP:0007735 alt_id: HP:0007753 alt_id: HP:0007967 def: "A reduction of previously attained ability to see." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased visual acuity, progressive" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Loss of visual acuity" EXACT [] synonym: "Progressive loss of vision" EXACT layperson [] synonym: "Progressive vision loss" EXACT layperson [] synonym: "Progressive visual acuity loss" EXACT [] synonym: "Progressive visual impairment" EXACT layperson [] synonym: "Slowly progressive visual loss" EXACT layperson [] synonym: "Vision loss, progressive" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Visual loss, progressive" EXACT layperson [] xref: UMLS:C1839364 xref: UMLS:C3277697 is_a: HP:0000572 ! Visual loss [Term] id: HP:0000531 name: Corneal crystals synonym: "Corneal deposits" EXACT [] xref: UMLS:C1096610 is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0000532 name: Abnormal chorioretinal morphology alt_id: HP:0001145 alt_id: HP:0007888 def: "An abnormality of the choroid and retina." [https://orcid.org/0000-0002-0736-9199] comment: The choroid is the vascular layer of the eye, located between the retina and the sclera. synonym: "Chorioretinal abnormality" EXACT [] xref: UMLS:C4025844 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0000610 ! Abnormal choroid morphology [Term] id: HP:0000533 name: Chorioretinal atrophy alt_id: HP:0001150 alt_id: HP:0007884 alt_id: HP:0007918 alt_id: HP:0007931 def: "Atrophy of the choroid and retinal layers of the fundus." [https://orcid.org/0000-0002-0736-9199, PMID:20224472] comment: Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy. synonym: "Chorioretinal thinning" EXACT [] xref: SNOMEDCT_US:95686007 xref: UMLS:C4048273 is_a: HP:0200065 ! Chorioretinal degeneration [Term] id: HP:0000534 name: Abnormal eyebrow morphology def: "An abnormality of the eyebrow." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the eyebrow" EXACT layperson [] xref: UMLS:C4011556 is_a: HP:0001595 ! Abnormal hair morphology is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000535 name: obsolete Sparse and thin eyebrow is_obsolete: true replaced_by: HP:0045074 replaced_by: HP:0045075 [Term] id: HP:0000537 name: Epicanthus inversus def: "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." [PMID:19125427] subset: hposlim_core xref: SNOMEDCT_US:400956000 xref: UMLS:C1303003 is_a: HP:0000286 ! Epicanthus [Term] id: HP:0000538 name: Pseudopapilledema def: "Apparent optic disc swelling in the absence of increased intracranial pressure." [https://orcid.org/0000-0002-0736-9199] comment: Papilledema is disc edema secondary to increased intracranial pressure. subset: hposlim_core xref: MSH:C562401 xref: SNOMEDCT_US:57138009 xref: UMLS:C0155300 is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0000539 name: Abnormality of refraction def: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025843 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000540 name: Hypermetropia def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [https://orcid.org/0000-0002-0736-9199] comment: The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). subset: hposlim_core synonym: "Farsightedness" EXACT layperson [] synonym: "Hyperopia" EXACT [] synonym: "Long-sightedness" EXACT layperson [] xref: MSH:D006956 xref: SNOMEDCT_US:38101003 xref: UMLS:C0020490 is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000541 name: Retinal detachment alt_id: HP:0007864 alt_id: HP:0008021 def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Detached retina" EXACT layperson [] synonym: "Retinal detachment" EXACT layperson [] xref: MSH:D012163 xref: SNOMEDCT_US:42059000 xref: UMLS:C0035305 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000542 name: Impaired ocular adduction def: "Reduced ability to move the eye in the direction of the nose." [https://orcid.org/0000-0002-0736-9199] comment: Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement). xref: UMLS:C1846463 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000543 name: Optic disc pallor alt_id: HP:0001148 alt_id: HP:0001484 def: "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [https://orcid.org/0000-0002-0736-9199] comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. subset: hposlim_core synonym: "Disc pallor" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Pale optic disc" EXACT [] synonym: "Pale optic discs" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Pale optic disk" EXACT [] xref: SNOMEDCT_US:302200001 xref: UMLS:C0554970 is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0000544 name: External ophthalmoplegia alt_id: HP:0007762 def: "Paralysis of the external ocular muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic progressive external ophthalmoplegia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "CPEO" EXACT abbreviation [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-5316-1399] synonym: "Ophthalmoplegia externa" EXACT [] synonym: "Paralysis or weakness of muscles within or surrounding outer part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Progressive paralysis or weakness of muscles of eye motility" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Progressive paralysis or weakness of muscles of eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:D009886 xref: MSH:D017246 xref: SNOMEDCT_US:19373007 xref: SNOMEDCT_US:46252003 xref: UMLS:C0162292 xref: UMLS:C0162674 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000545 name: Myopia alt_id: HP:0001110 alt_id: HP:0007847 alt_id: HP:0008012 def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Close sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Near sighted" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Near sightedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Nearsightedness" EXACT layperson [] xref: MSH:D009216 xref: SNOMEDCT_US:57190000 xref: UMLS:C0027092 is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000546 name: Retinal degeneration alt_id: HP:0007632 alt_id: HP:0007790 alt_id: HP:0007863 alt_id: HP:0007893 def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] subset: hposlim_core synonym: "Retina degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D012162 xref: SNOMEDCT_US:95695004 xref: UMLS:C0035304 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000547 name: obsolete Tapetoretinal degeneration synonym: "Retinotapetal degeneration" EXACT [] is_obsolete: true replaced_by: HP:0000510 [Term] id: HP:0000548 name: Cone/cone-rod dystrophy alt_id: HP:0008157 synonym: "Cone rod dystrophy" EXACT [] synonym: "Cone-rod retinal dystrophy" EXACT [] xref: MSH:D012174 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000549 name: Abnormal conjugate eye movement def: "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object." [https://orcid.org/0000-0002-0736-9199] synonym: "Disconjugate eye movements" EXACT [] xref: UMLS:C1845274 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000550 name: Undetectable electroretinogram alt_id: HP:0008042 def: "Lack of any response to stimulation upon electroretinography." [https://orcid.org/0000-0002-0736-9199] synonym: "Abolished electroretinogram" EXACT [] synonym: "Absent electroretinogram" EXACT [] synonym: "Extinction of electroretinogram" EXACT [] synonym: "Extinguished electroretinogram" EXACT [] synonym: "No light-evoked response on electroretinogram" EXACT [] synonym: "Undetectable ERG" EXACT [] xref: UMLS:C1855685 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000551 name: Color vision defect def: "An anomaly in the ability to discriminate between or recognize colors." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal color vision" EXACT layperson [] synonym: "Abnormal colour vision" EXACT uk_spelling [] synonym: "Abnormality of color vision" EXACT layperson [] synonym: "Abnormality of colour vision" EXACT [] synonym: "Color vision defect, severe" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Color vision defects" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Colour vision defect" EXACT uk_spelling [] synonym: "Colour vision defect, severe" RELATED uk_spelling [] synonym: "Colour vision defects" RELATED uk_spelling [] synonym: "Disturbed color vision" EXACT [] synonym: "Disturbed colour vision" EXACT uk_spelling [] synonym: "Loss in color vision" RELATED [] synonym: "Loss in colour vision" RELATED uk_spelling [] xref: MSH:D003117 xref: SNOMEDCT_US:23289000 xref: SNOMEDCT_US:367469000 xref: UMLS:C0009398 xref: UMLS:C0234629 xref: UMLS:C3552853 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000552 name: Tritanomaly def: "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [https://orcid.org/0000-0002-0736-9199] synonym: "Blue yellow color blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Blue yellow colour blindness" EXACT uk_spelling [] synonym: "Blue-yellow dyschromatopsia" EXACT [] synonym: "Blue/yellow color vision defect" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Blue/yellow colour vision defect" RELATED uk_spelling [] synonym: "Dyschromatopsia, blue-yellow" EXACT [] xref: MSH:D003117 xref: SNOMEDCT_US:51886007 xref: SNOMEDCT_US:85049009 xref: UMLS:C0155017 xref: UMLS:C1970167 is_a: HP:0011519 ! Anomalous trichromacy [Term] id: HP:0000553 name: Abnormal uvea morphology def: "An abnormality of the uvea, the vascular layer of the eyeball." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the uvea" EXACT [] xref: UMLS:C4025842 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000554 name: Uveitis def: "Inflammation of one or all portions of the uveal tract." [https://orcid.org/0000-0002-0736-9199] comment: The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. subset: hposlim_core xref: MSH:D014605 xref: SNOMEDCT_US:128473001 xref: UMLS:C0042164 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000555 name: Leukocoria def: "An abnormal white reflection from the pupil rather than the usual black reflection." [https://orcid.org/0000-0002-0736-9199] comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). synonym: "Leukokoria" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "White pupillary reflex" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:1361009 xref: UMLS:C0152458 is_a: HP:0000615 ! Abnormal pupil morphology [Term] id: HP:0000556 name: Retinal dystrophy alt_id: HP:0007736 alt_id: HP:0007910 alt_id: HP:0007974 alt_id: HP:0007982 def: "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [https://orcid.org/0000-0003-0986-4123] synonym: "Breakdown of light-sensitive cells in back of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D058499 xref: SNOMEDCT_US:314407005 xref: UMLS:C0854723 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000557 name: Buphthalmos def: "Diffusely large eye (with megalocornea) associated with glaucoma." [] comment: Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. subset: hposlim_core synonym: "Enlarged eyeball" EXACT layperson [https://en.wikipedia.org/wiki/buphthalmos, https://orcid.org/0000-0001-5208-3432] xref: MSH:D006871 xref: UMLS:C4551507 is_a: HP:0001087 ! Developmental glaucoma is_a: HP:0001090 ! Abnormally large globe [Term] id: HP:0000558 name: Rieger anomaly def: "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [https://orcid.org/0000-0002-0736-9199] comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. xref: MSH:C535679 xref: SNOMEDCT_US:47507006 xref: UMLS:C0265341 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0000559 name: Corneal scarring xref: MSH:D065306 xref: SNOMEDCT_US:95726001 xref: UMLS:C0349702 is_a: HP:0007957 ! Corneal opacity is_a: HP:0100699 ! Scarring [Term] id: HP:0000561 name: Absent eyelashes alt_id: HP:0002288 alt_id: HP:0004516 alt_id: HP:0004539 alt_id: HP:0007926 def: "Lack of eyelashes." [https://orcid.org/0000-0002-0736-9199, PMID:19125427] comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. subset: hposlim_core synonym: "Absent eyelashes" EXACT layperson [] synonym: "Agenesis of eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of eyelashes" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Atrichia of eyelashes" EXACT [] synonym: "Failure of development of eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1843005 xref: UMLS:C4280626 xref: UMLS:C4280627 is_a: HP:0002550 ! Absent facial hair is_a: HP:0200102 ! Sparse or absent eyelashes [Term] id: HP:0000563 name: Keratoconus def: "A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex." [https://orcid.org/0000-0002-0736-9199, PMID:7767020] comment: Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. subset: hposlim_core synonym: "Bulging cornea" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Conical cornea" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MSH:D007640 xref: SNOMEDCT_US:65636009 xref: UMLS:C0022578 is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0000564 name: Lacrimal duct atresia alt_id: HP:0007729 def: "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [https://orcid.org/0000-0002-0736-9199] synonym: "Imperforate nasolacrimal ducts" EXACT [] synonym: "Nasolacrimal duct atresia" EXACT [] synonym: "Unopened tear duct" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:278530008 xref: UMLS:C0344511 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0000565 name: Esotropia def: "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [https://orcid.org/0000-0002-0736-9199] comment: Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. subset: hposlim_core synonym: "Inward turning cross eyed" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D004948 xref: SNOMEDCT_US:16596007 xref: UMLS:C0014877 is_a: HP:0020045 ! Esodeviation is_a: HP:0032012 ! Heterotropia [Term] id: HP:0000567 name: Chorioretinal coloboma alt_id: HP:0000611 alt_id: HP:0007718 alt_id: HP:0007784 alt_id: HP:0007956 def: "Absence of a region of the retina, retinal pigment epithelium, and choroid." [https://orcid.org/0000-0002-0736-9199] synonym: "Birth defect that causes a hole in the innermost layer at the back of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Choroid coloboma" RELATED [] synonym: "Choroidal coloboma" RELATED [] synonym: "Choroidoretinal coloboma" EXACT [] synonym: "Coloboma of choroid" RELATED [] xref: SNOMEDCT_US:39302008 xref: UMLS:C0240896 is_a: HP:0000532 ! Abnormal chorioretinal morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000568 name: Microphthalmia alt_id: HP:0007996 def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormally small eyeball" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormally small globe of eye" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of eyeball" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of globe of eye" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Microphthalmos" EXACT [] synonym: "Nanophthalmos" RELATED [] xref: Fyler:4877 xref: MSH:D008850 xref: SNOMEDCT_US:204108000 xref: SNOMEDCT_US:61142002 xref: UMLS:C0026010 xref: UMLS:C4280625 xref: UMLS:C4280808 is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000570 name: Abnormal saccadic eye movements alt_id: HP:0000604 def: "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements." [https://orcid.org/0000-0002-0736-9199] comment: Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. synonym: "Abnormality of saccadic eye movements" EXACT [] synonym: "Impaired saccades" RELATED [] xref: UMLS:C1842584 xref: UMLS:C4025841 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000571 name: Hypometric saccades def: "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [https://orcid.org/0000-0002-0736-9199, PMID:572501] xref: SNOMEDCT_US:246768008 xref: UMLS:C0423082 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000572 name: Visual loss def: "Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [https://orcid.org/0009-0006-4530-3154] synonym: "Loss of vision" EXACT layperson [] synonym: "Vision loss" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Visual loss" EXACT layperson [] xref: SNOMEDCT_US:7973008 xref: UMLS:C3665386 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000573 name: Retinal hemorrhage def: "Hemorrhage occurring within the retina." [HPO_CONTRIBUTOR:gcarletti] comment: The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. subset: hposlim_core synonym: "Retinal bleeding" EXACT layperson [] synonym: "Retinal haemorrhage" EXACT uk_spelling [] synonym: "Retinal haemorrhages" EXACT uk_spelling [] synonym: "Retinal hemorrhages" EXACT plural_form [https://orcid.org/0000-0002-0736-9199] xref: MSH:D012166 xref: SNOMEDCT_US:28998008 xref: UMLS:C0035317 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0011885 ! Hemorrhage of the eye is_a: HP:0031803 ! Fundus hemorrhage [Term] id: HP:0000574 name: Thick eyebrow alt_id: HP:0004546 def: "Increased density/number and/or increased diameter of eyebrow hairs." [PMID:19125427] comment: Thickness can be regional (medial, middle/central, lateral) or total. subset: hposlim_core synonym: "Bushy eyebrows" EXACT layperson [] synonym: "Dense eyebrow" EXACT layperson [] synonym: "Heavy eyebrows" EXACT layperson [] synonym: "Hypertrichosis of the eyebrow" EXACT [] synonym: "Hypertrichosis of the eyebrows" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Prominent eyebrows" EXACT layperson [] synonym: "Thick eyebrow" EXACT layperson [] synonym: "Thick eyebrows" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1853487 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0000575 name: Scotoma def: "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blind spot" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D009898 xref: MSH:D012607 xref: SNOMEDCT_US:23388006 xref: SNOMEDCT_US:81016008 xref: UMLS:C0036454 xref: UMLS:C0344233 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0000576 name: Centrocecal scotoma def: "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D012607 xref: SNOMEDCT_US:33014001 xref: UMLS:C0271196 is_a: HP:0000575 ! Scotoma [Term] id: HP:0000577 name: Exotropia alt_id: HP:0008033 def: "A form of strabismus with one or both eyes deviated outward." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Outward facing eye ball" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D005099 xref: SNOMEDCT_US:399054005 xref: SNOMEDCT_US:399252000 xref: UMLS:C0015310 is_a: HP:0020049 ! Exodeviation is_a: HP:0032012 ! Heterotropia [Term] id: HP:0000579 name: Nasolacrimal duct obstruction def: "Blockage of the lacrimal duct." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blocked tear duct" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Lacrimal duct obstruction" EXACT [] xref: MSH:D007767 xref: SNOMEDCT_US:231841004 xref: SNOMEDCT_US:246865000 xref: SNOMEDCT_US:314022009 xref: SNOMEDCT_US:416920000 xref: UMLS:C0022906 xref: UMLS:C1281931 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0000580 name: Pigmentary retinopathy alt_id: HP:0001146 alt_id: HP:0007702 alt_id: HP:0007821 alt_id: HP:0007852 alt_id: HP:0007869 alt_id: HP:0007934 alt_id: HP:0007961 alt_id: HP:0008010 def: "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [https://orcid.org/0000-0003-0986-4123] synonym: "Pigmentary retinal deposits" EXACT [] synonym: "Retinal pigment clumping" EXACT [] synonym: "Retinal pigmentary clumping" EXACT [] synonym: "Retinal pigmentary degeneration" EXACT [] xref: MSH:D012174 xref: SNOMEDCT_US:28835009 xref: UMLS:C0035334 is_a: HP:0007703 ! Abnormality of retinal pigmentation [Term] id: HP:0000581 name: Blepharophimosis alt_id: HP:0000507 alt_id: HP:0000513 def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [PMID:19125427] comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus. subset: hposlim_core synonym: "Decreased width of palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D016569 xref: UMLS:C0005744 is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000582 name: Upslanted palpebral fissure def: "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [PMID:19125427] subset: hposlim_core synonym: "Mongoloid slant" EXACT [] synonym: "Upslanted palpebral fissures" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Upslanting palpebral fissures" EXACT [] synonym: "Upward slanted palpebral fissures" EXACT [] synonym: "Upward slanting of palpebral fissures" EXACT [] synonym: "Upward slanting of the opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upward slanting palpebral fissures" EXACT [] xref: SNOMEDCT_US:246799009 xref: UMLS:C0423109 is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000584 name: Punctate corneal epithelial erosions xref: UMLS:C1832170 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0000585 name: Band keratopathy def: "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Calcific band keratopathy" EXACT [] xref: MSH:C562399 xref: SNOMEDCT_US:35055000 xref: UMLS:C0155120 is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0000586 name: Shallow orbits alt_id: HP:0002706 def: "Reduced depth of the orbits associated with prominent-appearing ocular globes." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased depth of eye sockets" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased depth of orbits" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Shallow eye sockets" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Small shallow orbits" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1865244 is_a: HP:0000520 ! Proptosis is_a: HP:3000030 ! Abnormal morphology of bony orbit of skull [Term] id: HP:0000587 name: Abnormal optic nerve morphology def: "Abnormality of the optic nerve." [https://orcid.org/0000-0002-0736-9199] comment: The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. subset: hposlim_core synonym: "Abnormality of the optic nerve" EXACT [] synonym: "optic nerve abnormalities" EXACT [] synonym: "Optic nerve issue" EXACT layperson [] xref: UMLS:C0029131 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000588 name: Optic disc coloboma alt_id: HP:0007997 def: "A cleft of the optic nerve that extends inferiorly." [https://orcid.org/0000-0002-0736-9199, PMID:16219745] comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. subset: hposlim_core synonym: "Coloboma of optic nerve" EXACT [] synonym: "Optic disk coloboma" EXACT [] synonym: "Optic nerve coloboma" EXACT [] xref: MSH:C535970 xref: SNOMEDCT_US:17541006 xref: SNOMEDCT_US:44295002 xref: UMLS:C0155299 is_a: HP:0000589 ! Coloboma is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0000589 name: Coloboma alt_id: HP:0007767 alt_id: HP:0007995 def: "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa." [https://orcid.org/0000-0002-0736-9199] synonym: "Notched pupil" EXACT layperson [] synonym: "Ocular coloboma" EXACT [] synonym: "Ocular colobomas" EXACT [] xref: Fyler:4311 xref: MSH:D003103 xref: SNOMEDCT_US:92828000 xref: SNOMEDCT_US:93390002 xref: UMLS:C0009363 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000590 name: Progressive external ophthalmoplegia alt_id: HP:0000562 def: "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades." [https://orcid.org/0000-0002-0736-9199] comment: Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. synonym: "External ophthalmoplegia, progressive" EXACT [] xref: MSH:D017246 xref: SNOMEDCT_US:46252003 xref: UMLS:C0162674 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0000591 name: Abnormal sclera morphology def: "An abnormality of the sclera." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the outer white part of eyeball" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the sclera" EXACT [] xref: UMLS:C4025840 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000592 name: Blue sclerae def: "An abnormal bluish coloration of the sclera." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blue outer white part of eyeball" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Blue sclera" EXACT [] synonym: "Bluish sclerae" EXACT [] synonym: "Gray sclerae" EXACT [] synonym: "Grey sclerae" EXACT uk_spelling [] synonym: "Whites of eyes are a bluish-gray color" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Whites of eyes are a bluish-gray colour" EXACT uk_spelling [] xref: SNOMEDCT_US:204164000 xref: UMLS:C0542514 is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0000593 name: Abnormal anterior chamber morphology def: "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the anterior chamber" EXACT [] synonym: "Anterior chamber anomalies" EXACT [] synonym: "Ocular anterior chamber abnormality" EXACT [] xref: SNOMEDCT_US:204142009 xref: UMLS:C3152182 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000594 name: Shallow anterior chamber alt_id: HP:0007756 def: "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:246986004 xref: UMLS:C0423276 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0000597 name: Ophthalmoparesis alt_id: HP:0007701 alt_id: HP:0008044 def: "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [https://orcid.org/0000-0002-0736-9199] synonym: "Extraocular muscle palsy" EXACT [] synonym: "Extraocular muscle paralysis" EXACT [] synonym: "Weakness of extraocular eye movement" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Weakness of muscles controlling eye movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D009886 xref: UMLS:C0751401 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000598 name: Abnormality of the ear def: "An abnormality of the ear." [https://orcid.org/0000-0002-0736-9199] comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. subset: hposlim_core synonym: "Abnormality of the ear" EXACT layperson [] synonym: "Ear anomaly" EXACT [] xref: SNOMEDCT_US:275259005 xref: UMLS:C0266589 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000599 name: Abnormality of the frontal hairline def: "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of hairline at front of head" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the frontal hairline" EXACT layperson [] xref: UMLS:C4025839 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0009553 ! Abnormality of the hairline property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T05:34:00Z [Term] id: HP:0000600 name: Abnormality of the pharynx def: "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly." [https://orcid.org/0000-0002-0736-9199] comment: The pharynx is tubular structure extending from base of skull superiorly 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: MSH:D009886 xref: SNOMEDCT_US:16110005 xref: UMLS:C0029089 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000603 name: Central scotoma def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blind spot located at fixation point" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Central blind spot" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Central scotomata" EXACT [] xref: MSH:D012607 xref: SNOMEDCT_US:38950008 xref: UMLS:C0152191 xref: UMLS:C4280624 is_a: HP:0000575 ! Scotoma [Term] id: HP:0000605 name: Supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Supranuclear gaze paralysis" EXACT [] xref: SNOMEDCT_US:420675003 xref: UMLS:C1720037 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000606 name: Abnormality of the periorbital region def: "An abnormality of the region situated around the orbit of the eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the region around the eye" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the region around the eye socket" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Anomaly of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of the periorbital region" NARROW [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025837 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000607 name: Periorbital wrinkles synonym: "Excess periorbital skin wrinkling" EXACT [] synonym: "Periorbital rhytids" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Periorbital wrinkling" EXACT [] synonym: "Wrinkles around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844605 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0000608 name: Macular degeneration alt_id: HP:0007694 alt_id: HP:0007868 def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123] synonym: "Pigmented macular degeneration" EXACT [] xref: SNOMEDCT_US:422338006 xref: UMLS:C0024437 is_a: HP:0000546 ! Retinal degeneration is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0000609 name: Optic nerve hypoplasia alt_id: HP:0007273 def: "Underdevelopment of the optic nerve." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic optic nerves" EXACT [] synonym: "Underdeveloped optic nerves" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95499004 xref: UMLS:C0338502 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0000610 name: Abnormal choroid morphology alt_id: HP:0001122 def: "Any structural abnormality of the choroid." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the choroid" EXACT [] synonym: "Choroid disease" RELATED [] xref: MSH:D015862 xref: UMLS:C0008521 xref: UMLS:C4025836 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000611 name: obsolete Choroid coloboma is_obsolete: true replaced_by: HP:0000567 [Term] id: HP:0000612 name: Iris coloboma alt_id: HP:0007744 alt_id: HP:0007748 def: "A coloboma of the iris." [https://orcid.org/0000-0002-0736-9199, PMID:19369671] subset: hposlim_core synonym: "Cat eye" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Coloboma of iris" EXACT [] synonym: "Coloboma of the iris" EXACT [] synonym: "Keyhole iris" EXACT [] xref: UMLS:C0240063 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000613 name: Photophobia def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [] comment: Note that the term photodysphoria is used to describe extreme photophobia. subset: hposlim_core synonym: "Extreme sensitivity of the eyes to light" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Light hypersensitivity" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Photodysphoria" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: MSH:D020795 xref: SNOMEDCT_US:246622003 xref: SNOMEDCT_US:409668002 xref: UMLS:C0085636 xref: UMLS:C4020887 is_a: HP:0000504 ! Abnormality of vision is_a: HP:5200058 ! Sensory hypersensitivity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000614 name: Abnormal nasolacrimal system morphology def: "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [HPO_CONTRIBUTOR:DDD_ncarter] comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. subset: hposlim_core synonym: "Abnormality of the nasolacrimal system" EXACT [] xref: UMLS:C4025835 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000615 name: Abnormal pupil morphology alt_id: HP:0008018 alt_id: HP:0030960 def: "An abnormality of the pupil." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal pupillary morphology" EXACT [] synonym: "Abnormality of the pupil" EXACT layperson [] synonym: "Pupillary abnormalities" EXACT layperson [] synonym: "Pupillary abnormality" EXACT layperson [] xref: SNOMEDCT_US:274093008 xref: UMLS:C0154936 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0000616 name: Miosis def: "Abnormal (non-physiological) constriction of the pupil." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Constricted pupils" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pupillary constriction" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D015877 xref: SNOMEDCT_US:63251006 xref: UMLS:C0026205 is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0000617 name: Abnormality of ocular smooth pursuit alt_id: HP:0007671 alt_id: HP:0008006 def: "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements." [https://orcid.org/0000-0002-0736-9199] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. synonym: "Abnormal smooth pursuits" EXACT [] synonym: "Disrupted ocular pursuit movements" EXACT [] synonym: "Impaired smooth pursuit ocular movements" EXACT [] synonym: "Irregular visual pursuit movements" EXACT [] xref: UMLS:C1836393 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000618 name: Blindness alt_id: HP:0007839 def: "Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation." [https://orcid.org/0000-0001-8727-6592, PMID:28779882] comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. subset: hposlim_core synonym: "Blindness" EXACT layperson [] synonym: "Legal blindness" RELATED layperson [] synonym: "Total vision loss" EXACT [] xref: Fyler:4866 xref: MSH:D001766 xref: SNOMEDCT_US:65956007 xref: UMLS:C0271215 xref: UMLS:C0456909 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0000619 name: Impaired convergence def: "Reduced ability to turn the eyes inward in order to focus on a nearby object." [https://orcid.org/0000-0002-0736-9199] comment: Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target. synonym: "Convergence insufficiency" EXACT [] xref: MSH:D015835 xref: SNOMEDCT_US:194131002 xref: UMLS:C0271379 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000620 name: Dacryocystitis def: "Inflammation of the nasolacrimal sac." [https://orcid.org/0000-0002-0736-9199] comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis. synonym: "Dacrocystitis" EXACT [] synonym: "Infection of the lacrimal sac" EXACT [https://en.wikipedia.org/wiki/dacryocystitis, https://orcid.org/0000-0001-5208-3432] xref: MSH:D003607 xref: SNOMEDCT_US:85777005 xref: UMLS:C0010930 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology [Term] id: HP:0000621 name: Entropion def: "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital." [https://orcid.org/0000-0003-0986-4123, PMID:19125427] comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. subset: hposlim_core synonym: "Eyelid folded in" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid turned in" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Inverted eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D004774 xref: SNOMEDCT_US:33168009 xref: UMLS:C0014390 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000622 name: Blurred vision alt_id: HP:0007723 def: "Lack of sharpness of vision resulting in the inability to see fine detail." [https://orcid.org/0000-0002-0736-9199] comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. subset: hposlim_core synonym: "Blurred vision" EXACT layperson [] xref: SNOMEDCT_US:111516008 xref: SNOMEDCT_US:246636008 xref: UMLS:C0344232 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000623 name: Supranuclear ophthalmoplegia def: "A vertical gaze palsy with inability to direct the gaze of the eyes downwards." [https://orcid.org/0000-0002-0736-9199, PMID:20629667] subset: hposlim_core xref: UMLS:C1408507 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000625 name: Eyelid coloboma def: "A short discontinuity of the margin of the lower or upper eyelid." [PMID:19125427] comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. subset: hposlim_core synonym: "Cleft eyelid" EXACT layperson [] synonym: "Full thickness defect of the eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Notched eyelid" EXACT layperson [] xref: SNOMEDCT_US:95202004 xref: UMLS:C0521573 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid [Term] id: HP:0000627 name: Posterior embryotoxon alt_id: HP:0100740 def: "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe." [https://orcid.org/0000-0002-0736-9199] comment: Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant. subset: hposlim_core synonym: "Embryotoxon" EXACT [] xref: SNOMEDCT_US:253228006 xref: SNOMEDCT_US:392437005 xref: UMLS:C0344531 xref: UMLS:C0546967 is_a: HP:0008048 ! Abnormal line of Schwalbe morphology [Term] id: HP:0000629 name: Periorbital fullness def: "Increase in periorbital soft tissue." [https://orcid.org/0009-0006-4530-3154] synonym: "Fullness around the eyes" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Periorbital puffiness" EXACT [] synonym: "Periorbital swelling" EXACT [] synonym: "Puffiness around eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Puffy eyes" EXACT [] synonym: "Swelling around the eyes" EXACT [] xref: UMLS:C1858036 is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000630 name: Abnormal retinal artery morphology synonym: "Abnormality of retinal arteries" EXACT layperson [] synonym: "Retinal arterial abnormality" EXACT layperson [] xref: UMLS:C4021802 is_a: HP:0008046 ! Abnormal retinal vascular morphology is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:3000036 ! Abnormal head blood vessel morphology [Term] id: HP:0000631 name: Retinal arterial tortuosity def: "The presence of an increased number of twists and turns of the retinal artery." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Retinal artery tortuousity" EXACT [] xref: SNOMEDCT_US:247123003 xref: UMLS:C0423401 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0000632 name: Lacrimation abnormality alt_id: HP:0000521 def: "Abnormality of tear production." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of tear production" EXACT layperson [] xref: UMLS:C4021801 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000633 name: Decreased lacrimation def: "Abnormally decreased lacrimation, that is, reduced ability to produce tears." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased tear secretion" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C0235857 is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000634 name: Impaired ocular abduction def: "An impaired ability of the eye to move in the outward direction (towards the side of the head)." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1846462 is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000635 name: Blue irides def: "A markedly blue coloration of the iris." [https://orcid.org/0000-0002-0736-9199] synonym: "Blue eyes" EXACT layperson [] xref: SNOMEDCT_US:301952009 xref: UMLS:C0578626 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0000636 name: Upper eyelid coloboma def: "A short discontinuity of the margin of the upper eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Coloboma of the upper eyelid" EXACT [] synonym: "Full thickness defect of the upper eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Notched upper eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Upper eyelid colobomas" EXACT [] xref: UMLS:C1863872 is_a: HP:0000625 ! Eyelid coloboma [Term] id: HP:0000637 name: Long palpebral fissure alt_id: HP:0007904 def: "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [PMID:19125427] subset: hposlim_core synonym: "Broad opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Broad palpebral fissure" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Long opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Long palpebral fissures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Wide opening between the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wide palpebral fissure" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Wide palpebral fissures" EXACT [] xref: UMLS:C1849340 is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000639 name: Nystagmus def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Involuntary, rapid, rhythmic eye movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D009759 xref: SNOMEDCT_US:563001 xref: UMLS:C0028738 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0000640 name: Gaze-evoked nystagmus def: "Nystagmus made apparent by looking to the right or to the left." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D009760 xref: SNOMEDCT_US:29356006 xref: UMLS:C0271390 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000641 name: Dysmetric saccades def: "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [https://orcid.org/0000-0002-0736-9199, PMID:572501] subset: hposlim_core synonym: "Dysmetric eye movements" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Dysmetric eye saccades" EXACT [] synonym: "Uncoordinated eye movement" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1836392 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000642 name: Red-green dyschromatopsia alt_id: HP:0007960 def: "Difficulty with discriminating red and green hues." [https://orcid.org/0000-0001-8727-6592] synonym: "Dyschromatopsia with red-green confusion" EXACT [] synonym: "Red green color blindness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Red green colour blindness" EXACT uk_spelling [] synonym: "Red/green color vision defect" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Red/green colour vision defect" RELATED uk_spelling [] xref: MSH:D003117 xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 xref: UMLS:C0155016 xref: UMLS:C1970168 is_a: HP:0007641 ! Dyschromatopsia [Term] id: HP:0000643 name: Blepharospasm alt_id: HP:0007907 def: "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [https://orcid.org/0000-0002-0736-9199] synonym: "Eyelid spasm" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid twitching" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Involuntary closure of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Spontaneous closure of eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D001764 xref: SNOMEDCT_US:59026006 xref: UMLS:C0005747 is_a: HP:0012179 ! Craniofacial dystonia is_a: HP:0031879 ! Abnormal eyelid physiology [Term] id: HP:0000646 name: Amblyopia def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." [https://orcid.org/0000-0002-0736-9199] comment: Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. subset: hposlim_core synonym: "Lazy eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Wandering eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Wandering eyes" EXACT [https://orcid.org/0000-0002-5316-1399] xref: MSH:D000550 xref: SNOMEDCT_US:387742006 xref: UMLS:C0002418 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0000647 name: Sclerocornea def: "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hardening of skin and connective tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:C565209 xref: UMLS:C1853235 is_a: HP:0007957 ! Corneal opacity [Term] id: HP:0000648 name: Optic atrophy alt_id: HP:0007751 alt_id: HP:0007855 def: "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [https://orcid.org/0000-0002-0736-9199] comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. subset: hposlim_core synonym: "Optic nerve atrophy" EXACT [] synonym: "Optic-nerve degeneration" EXACT [] xref: MSH:D009896 xref: SNOMEDCT_US:76976005 xref: UMLS:C0029124 is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0000649 name: Abnormality of visual evoked potentials def: "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." [https://orcid.org/0000-0002-0736-9199, PMID:19826847] comment: The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. subset: hposlim_core synonym: "Abnormal vision evoked potentials" EXACT [] synonym: "Abnormal visual evoked potential" EXACT [] synonym: "Abnormal visual evoked responses" EXACT [] synonym: "Abnormal visual-evoked potentials" EXACT [] synonym: "VEP abnormalities" EXACT [] xref: SNOMEDCT_US:102968003 xref: UMLS:C0522214 is_a: HP:0030453 ! Abnormal visual electrophysiology [Term] id: HP:0000650 name: Abnormal amplitude of pattern reversal visual evoked potentials xref: UMLS:C4025834 is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials [Term] id: HP:0000651 name: Diplopia def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Double vision" EXACT layperson [] xref: MSH:D004172 xref: SNOMEDCT_US:24982008 xref: UMLS:C0012569 is_a: HP:0011514 ! Abnormality of binocular vision [Term] id: HP:0000652 name: Lower eyelid coloboma alt_id: HP:0007909 def: "A short discontinuity of the margin of the lower eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Coloboma of lower eyelid" EXACT [] synonym: "Full thickness defect of the lower eyelid" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lower lid coloboma" EXACT [] synonym: "Notched lower eyelid" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1837826 is_a: HP:0000625 ! Eyelid coloboma [Term] id: HP:0000653 name: Sparse eyelashes alt_id: HP:0002284 alt_id: HP:0004519 alt_id: HP:0004531 alt_id: HP:0004555 alt_id: HP:0004777 alt_id: HP:0007853 def: "Decreased density/number of eyelashes." [PMID:19125427] subset: hposlim_core synonym: "Hypotrichosis of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Partial absence of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Scant eyelashes" EXACT layperson [] synonym: "Scanty eyelashes" EXACT layperson [] synonym: "Sparse eyelashes" EXACT layperson [] synonym: "Thin eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1843300 is_a: HP:0008070 ! Sparse hair is_a: HP:0200102 ! Sparse or absent eyelashes [Term] id: HP:0000654 name: Decreased light- and dark-adapted electroretinogram amplitude alt_id: HP:0007636 alt_id: HP:0007689 alt_id: HP:0007845 def: "Descreased amplitude of eletrical response upon electroretinography." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT [] synonym: "Decreased electroretinogram" EXACT [] synonym: "Decreased electroretinogram amplitude" EXACT [] synonym: "Decreased electroretinogram response" EXACT [] synonym: "Decreased ERG amplitude" EXACT [] synonym: "Flattened or absent electroretinogram" EXACT [] synonym: "Reduced electroretinogram" EXACT [] synonym: "Reduced ERG" EXACT [] synonym: "Reduced or abolished electroretinogram" EXACT [] xref: UMLS:C1839025 is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram [Term] id: HP:0000655 name: obsolete Vitreoretinal degeneration is_obsolete: true replaced_by: HP:0007773 [Term] id: HP:0000656 name: Ectropion def: "An outward turning (eversion) or rotation of the eyelid margin." [PMID:19125427] comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. subset: hposlim_core synonym: "Everted eyelid" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid folded out" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Eyelid turned out" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D004483 xref: SNOMEDCT_US:127559009 xref: SNOMEDCT_US:62909004 xref: UMLS:C0013592 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000657 name: Oculomotor apraxia alt_id: HP:0000628 alt_id: HP:0007764 def: "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex." [https://orcid.org/0000-0002-0736-9199, PMID:20615230] comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. subset: hposlim_core synonym: "Defective or absent horizontal voluntary eye movements" RELATED [] synonym: "Ocular motor apraxia" EXACT [] xref: MSH:C537423 xref: SNOMEDCT_US:193662007 xref: UMLS:C3489733 xref: UMLS:C4020886 is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0002186 ! Apraxia [Term] id: HP:0000658 name: Eyelid apraxia synonym: "Difficulty opening the eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:423142006 xref: UMLS:C1142448 is_a: HP:0002186 ! Apraxia is_a: HP:0031879 ! Abnormal eyelid physiology [Term] id: HP:0000659 name: Peters anomaly def: "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MSH:C537884 xref: SNOMEDCT_US:204153003 xref: UMLS:C0344559 is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0000660 name: Lipemia retinalis def: "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." [PMID:10379021, PMID:16120862] comment: Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). xref: SNOMEDCT_US:95692001 xref: UMLS:C0339477 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0000661 name: Palpebral fissure narrowing on adduction xref: UMLS:C1846465 is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0000662 name: Nyctalopia alt_id: HP:0007653 alt_id: HP:0007725 alt_id: HP:0007865 alt_id: HP:0007895 def: "Inability to see well at night or in poor light." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Difficulties with night vision" RELATED layperson [] synonym: "Night blindness" EXACT layperson [] synonym: "Night-blindness" EXACT layperson [] synonym: "Poor night vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:D009755 xref: SNOMEDCT_US:65194006 xref: UMLS:C0028077 xref: UMLS:C4020885 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000664 name: Synophrys alt_id: HP:0002210 def: "Meeting of the medial eyebrows in the midline." [PMID:19125427] subset: hposlim_core synonym: "Monobrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Synophris" EXACT [] synonym: "Unibrow" EXACT layperson [] xref: SNOMEDCT_US:253207002 xref: UMLS:C0431447 is_a: HP:0000534 ! Abnormal eyebrow morphology is_a: HP:0002219 ! Facial hypertrichosis [Term] id: HP:0000666 name: Horizontal nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Nystagmus, horizontal" EXACT [] xref: MSH:D009759 xref: SNOMEDCT_US:81756001 xref: UMLS:C0271385 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000667 name: Phthisis bulbi def: "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [https://orcid.org/0000-0002-0736-9199] comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye. subset: hposlim_core xref: SNOMEDCT_US:4229009 xref: UMLS:C0271007 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000668 name: Hypodontia def: "The absence of five or less teeth from the normal series by a failure to develop." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. subset: hposlim_core synonym: "Failure of development of between one and six teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing between one and six teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D000848 xref: SNOMEDCT_US:64969001 xref: UMLS:C0020608 is_a: HP:0009804 ! Tooth agenesis [Term] id: HP:0000670 name: Carious teeth alt_id: HP:0006295 alt_id: HP:0006306 def: "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [https://orcid.org/0000-0002-0736-9199] comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. subset: hposlim_core synonym: "Caries" EXACT [] synonym: "Cariosity of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Dental caries" EXACT [] synonym: "Dental cavities" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dental decay" RELATED layperson [] synonym: "Early dental caries" EXACT [] synonym: "Frequent caries" EXACT [] synonym: "Rotting teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth cavities" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth decay" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D003731 xref: SNOMEDCT_US:80967001 xref: UMLS:C0011334 xref: UMLS:C4280623 is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000674 name: Anodontia alt_id: HP:0006484 def: "The absence of all teeth from the normal series by a failure to develop." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. synonym: "Anodontia vera" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Complete agenesis of all teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Complete anodontia" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Complete dental agenesis" EXACT [] synonym: "Failure of development of all teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing all teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Total absence of all teeth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Total anodontia" NARROW [https://orcid.org/0000-0001-5889-4463] xref: MSH:D000848 xref: SNOMEDCT_US:16958000 xref: SNOMEDCT_US:26624006 xref: UMLS:C0399352 xref: UMLS:C4280622 is_a: HP:0009804 ! Tooth agenesis [Term] id: HP:0000675 name: Macrodontia of permanent maxillary central incisor def: "Increased size of the maxillary central secondary incisor tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Hyperplasia of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of permanent upper central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of permanent maxillary central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of permanent upper central incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large permanent maxillary central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Large permanent upper central incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Long maxillary central incisors" EXACT [] synonym: "Prominent upper incisors" EXACT [] synonym: "Prominent, protruding upper incisors" EXACT [] xref: UMLS:C1835095 xref: UMLS:C4280263 xref: UMLS:C4280620 xref: UMLS:C4280621 is_a: HP:0011081 ! Incisor macrodontia [Term] id: HP:0000676 name: Abnormality of the incisor alt_id: HP:0006340 def: "An abnormality of the Incisor tooth." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025833 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000677 name: Oligodontia alt_id: HP:0000702 def: "The absence of six or more teeth from the normal series by a failure 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: MSH:D008310 xref: SNOMEDCT_US:12351004 xref: SNOMEDCT_US:699222000 xref: UMLS:C0040433 xref: UMLS:C1317785 xref: UMLS:C4280617 xref: UMLS:C4280618 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0000679 name: Taurodontia def: "Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged. subset: hposlim_core synonym: "Large elongated pulp chamber" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Taurodont" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Taurodontism" EXACT [] xref: MSH:C536946 xref: SNOMEDCT_US:51744007 xref: UMLS:C0266039 xref: UMLS:C4280616 is_a: HP:0006479 ! Abnormal dental pulp morphology is_a: HP:0006486 ! Abnormal dental root morphology is_a: HP:0011071 ! 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 grey discoloration of the dental enamel." [https://orcid.org/0000-0002-9338-3017] comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. synonym: "Gray colored tooth enamel" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Gray tooth shade" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Grayish enamel" EXACT layperson [] synonym: "Grey coloured tooth enamel" EXACT uk_spelling [] synonym: "Grey tooth shade" EXACT uk_spelling [] synonym: "Greyish enamel" EXACT layperson [] xref: UMLS:C1854783 is_a: HP:0000682 ! Abnormal dental enamel morphology is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0000684 name: Delayed eruption of teeth alt_id: HP:0000686 alt_id: HP:0006294 alt_id: HP:0006314 alt_id: HP:0006328 def: "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [https://orcid.org/0000-0002-9338-3017, PMID:19125428, PMID:31468724] comment: This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations. subset: hposlim_core synonym: "Delayed dental development" EXACT [] synonym: "Delayed dental eruption" EXACT [] synonym: "Delayed eruption" EXACT layperson [] synonym: "Delayed eruption of teeth" EXACT layperson [] synonym: "Delayed teeth eruption" EXACT layperson [] synonym: "Delayed tooth eruption" EXACT layperson [] synonym: "Eruption, delayed" EXACT layperson [] synonym: "Late eruption of teeth" EXACT layperson [] synonym: "Late tooth eruption" EXACT layperson [] xref: SNOMEDCT_US:5639000 xref: UMLS:C0239174 is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000685 name: Hypoplasia of teeth alt_id: HP:0000688 alt_id: HP:0006281 alt_id: HP:0006307 def: "Developmental hypoplasia of teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Decreased size of teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplastic teeth" EXACT [] synonym: "Underdevelopment of teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0235357 xref: UMLS:C4280611 is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000687 name: Widely spaced teeth def: "Increased spaces (diastemata) between most of the teeth in the same dental arch." [PMID:19125428] comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. subset: hposlim_core synonym: "Generalised dental spacing" EXACT uk_spelling [] synonym: "Generalised spacing of teeth" EXACT uk_spelling [] synonym: "Generalized dental spacing" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Generalized spacing of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple diastemata" EXACT [] synonym: "Wide-spaced teeth" EXACT layperson [] synonym: "Widely spaced teeth" EXACT layperson [] synonym: "Widely-spaced teeth" EXACT layperson [] xref: UMLS:C1844813 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0000689 name: Dental malocclusion def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [PMID:31468724] synonym: "Angle class 2 malocclusion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Angle class 3 malocclusion" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Bad bite" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral crossbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral crossbite malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Incorrect relation between upper and lower dental arches" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Malalignment of upper and lower dental arches" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malocclusion" EXACT [] synonym: "Malocclusion of teeth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Misalignment of upper and lower dental arches" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Occlusion anomaly" EXACT [] xref: MSH:D008310 xref: SNOMEDCT_US:47944004 xref: SNOMEDCT_US:707598004 xref: UMLS:C0024636 xref: UMLS:C4280613 xref: UMLS:C4280614 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0000690 name: Agenesis of maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Absence of upper lateral incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Absent upper lateral incisors" EXACT [] synonym: "Failure of development of maxillary lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing maxillary lateral incisor" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Missing upper lateral incisor" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1849950 xref: UMLS:C4083046 is_a: HP:0200153 ! Agenesis of lateral incisor is_a: HP:0200160 ! Agenesis of maxillary incisor [Term] id: HP:0000691 name: Microdontia def: "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [https://orcid.org/0000-0002-9338-3017, PMID:19125428] comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. subset: hposlim_core synonym: "Decreased size of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic tooth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Small teeth" EXACT [] synonym: "Small tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Tooth hypoplasia" EXACT [] synonym: "Tooth hypotrophy" EXACT [] synonym: "Underdeveloped tooth" EXACT [] xref: SNOMEDCT_US:32337007 xref: UMLS:C0240340 xref: UMLS:C4280611 xref: UMLS:C4280612 is_a: HP:0006482 ! 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: MSH:D009306 xref: SNOMEDCT_US:21995002 xref: SNOMEDCT_US:58748004 xref: UMLS:C0027443 is_a: HP:0006288 ! Advanced eruption of teeth [Term] id: HP:0000696 name: Delayed eruption of permanent teeth def: "Delayed tooth eruption affecting the secondary dentition." [https://orcid.org/0000-0002-9338-3017] synonym: "Delayed eruption of adult teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed eruption of permanent teeth" EXACT layperson [] synonym: "Delayed eruption of secondary dentition" EXACT [] synonym: "Delayed eruption of secondary teeth" EXACT [] synonym: "Delayed permanent dentition" EXACT [] xref: UMLS:C1849540 is_a: HP:0000684 ! Delayed eruption of teeth [Term] id: HP:0000698 name: Conical tooth def: "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. subset: hposlim_core synonym: "Cone shaped tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Conical teeth" RELATED [] synonym: "Conoid tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Peg shaped teeth" EXACT [] synonym: "Peg shaped tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Peg tooth" EXACT [] synonym: "Peg-shaped teeth" EXACT [] synonym: "Pointed tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Shark tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:29553002 xref: UMLS:C0266037 xref: UMLS:C4012359 is_a: HP:0006482 ! 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: MSH:D003970 xref: SNOMEDCT_US:35591002 xref: UMLS:C0011998 is_a: HP:0000692 ! Tooth malposition [Term] id: HP:0000700 name: Periapical bone loss def: "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [https://orcid.org/0000-0002-9338-3017] comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. synonym: "Bone loss around tooth root" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dark spot around tooth root on x-ray" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Periapical cyst" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Periapical granuloma" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Periapical lesion" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Periapical radiolucencies" RELATED [] synonym: "Periapical radiolucency" RELATED [] xref: MSH:D010484 xref: MSH:D011842 xref: SNOMEDCT_US:81407003 xref: SNOMEDCT_US:89988002 xref: UMLS:C0031029 xref: UMLS:C0034543 xref: UMLS:C1852169 xref: UMLS:C4280609 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000703 name: Dentinogenesis imperfecta def: "Developmental dysplasia of dentin." [https://orcid.org/0000-0002-9338-3017] comment: This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. subset: hposlim_core xref: MSH:D003811 xref: SNOMEDCT_US:196286005 xref: UMLS:C0011436 is_a: HP:0010299 ! Abnormal dentin morphology is_a: HP:3000050 ! Abnormal odontoid tissue morphology [Term] id: HP:0000704 name: Periodontitis alt_id: HP:0000165 alt_id: HP:0006301 def: "Inflammation of the periodontium." [https://orcid.org/0000-0002-9338-3017] subset: hposlim_core synonym: "Gum disease" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Periodontal disease" BROAD [] synonym: "Pyorrhea" EXACT [https://orcid.org/0000-0001-5889-4463] xref: MSH:D005882 xref: MSH:D010510 xref: MSH:D010518 xref: SNOMEDCT_US:18718003 xref: SNOMEDCT_US:2556008 xref: SNOMEDCT_US:41565005 xref: UMLS:C0017563 xref: UMLS:C0031090 xref: UMLS:C0031099 is_a: HP:0000164 ! Abnormality of the dentition is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000705 name: Amelogenesis imperfecta alt_id: HP:0006284 alt_id: HP:0006310 alt_id: HP:0006325 alt_id: HP:0006327 alt_id: HP:0006331 def: "A developmental dysplasia of the dental enamel." [https://orcid.org/0000-0002-9338-3017, PMID:18499550] comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. subset: hposlim_core xref: MSH:D000567 xref: SNOMEDCT_US:78494001 xref: UMLS:C0002452 is_a: HP:0000682 ! Abnormal dental enamel morphology [Term] id: HP:0000706 name: Eruption failure def: "A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential." [https://orcid.org/0000-0002-9338-3017, PMID:31468724] comment: Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations. synonym: "Failure of eruption of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pseudo-anodontia" EXACT [] synonym: "Pseudoanodontia" EXACT [] synonym: "Unerupted dentition" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Unerupted tooth" EXACT layperson [] xref: SNOMEDCT_US:109542004 xref: UMLS:C1290587 is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000707 name: Abnormality of the nervous system alt_id: HP:0001333 alt_id: HP:0006987 def: "An abnormality of the nervous system." [https://orcid.org/0000-0002-0736-9199] comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. synonym: "Abnormality of the nervous system" EXACT layperson [] synonym: "Brain and/or spinal cord issue" BROAD layperson [] synonym: "Neurologic abnormalities" EXACT layperson [] synonym: "Neurological abnormality" EXACT layperson [] xref: MSH:D009421 xref: SNOMEDCT_US:88425004 xref: UMLS:C0497552 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000708 name: Atypical behavior alt_id: HP:0000715 alt_id: HP:0002368 alt_id: HP:0002456 def: "Atypical behavior is an abnormality in a person's actions, which 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: MSH:D000066553 xref: MSH:D001526 xref: SNOMEDCT_US:25786006 xref: SNOMEDCT_US:277843001 xref: UMLS:C0004941 xref: UMLS:C0233514 is_a: HP:0011446 ! Abnormality of mental function property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000709 name: Psychosis def: "A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis." [] synonym: "Psychosis" EXACT layperson [] xref: MSH:D011618 xref: SNOMEDCT_US:69322001 xref: UMLS:C0033975 is_a: HP:5200430 ! Abnormal psychotic pattern property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000711 name: Restlessness def: "A state of unease 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:5200241 ! Recurrent maladaptive behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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 emotion property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000713 name: Agitation def: "A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension." [] synonym: "Psychomotor agitation" EXACT [] xref: SNOMEDCT_US:24199005 xref: UMLS:C0085631 is_a: HP:0000711 ! Restlessness property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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: MSH:D003866 xref: SNOMEDCT_US:21061000119107 xref: SNOMEDCT_US:35489007 xref: SNOMEDCT_US:78667006 xref: UMLS:C0011581 is_a: HP:0000745 ! Diminished motivation is_a: HP:0100851 ! Abnormal emotion property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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: MSH:D001321 xref: SNOMEDCT_US:408856003 xref: SNOMEDCT_US:408857007 xref: SNOMEDCT_US:43614003 xref: UMLS:C0004352 is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000718 name: Aggressive behavior def: "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: "Aggressive behaviour" EXACT layperson [] synonym: "Aggressiveness" EXACT layperson [] synonym: "physical aggression" RELATED layperson [] xref: MSH:D000374 xref: SNOMEDCT_US:248004009 xref: SNOMEDCT_US:61372001 xref: UMLS:C0001807 xref: UMLS:C0424323 xref: UMLS:C1457883 is_a: HP:5200241 ! Recurrent maladaptive behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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 [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: MSH:D003192 xref: MSH:D009771 xref: SNOMEDCT_US:12479006 xref: SNOMEDCT_US:191736004 xref: UMLS:C0028768 xref: UMLS:C0600104 is_a: HP:5200241 ! Recurrent maladaptive behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6624-2975 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2984-1124 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4691-7362 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6581-7754 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7674-1767 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2598-6622 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/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, interests, and activities" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Restrictive behaviour" EXACT [] 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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/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: MSH:D003704 xref: SNOMEDCT_US:52448006 xref: UMLS:C0497327 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0000727 name: Frontal lobe dementia xref: SNOMEDCT_US:278857002 xref: UMLS:C0338455 is_a: HP:0000726 ! Dementia [Term] id: HP:0000728 name: Impaired ability to form peer relationships xref: UMLS:C1837649 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000729 name: Autistic behavior def: "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [https://orcid.org/0000-0002-0736-9199, PMID:28879490] comment: This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. synonym: "ASD" EXACT abbreviation [] synonym: "Autism spectrum disorder" RELATED layperson [] synonym: "Autism spectrum disorders" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Autistic behaviors" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Autistic behaviour" EXACT uk_spelling [] synonym: "Autistic behaviours" RELATED uk_spelling [] synonym: "Pervasive developmental disorder" EXACT [] xref: MSH:D000067877 xref: UMLS:C0856975 xref: UMLS:C1510586 is_a: HP:0000708 ! Atypical behavior [Term] id: HP:0000732 name: Inflexible adherence to routines 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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000733 name: Abnormal repetitive mannerisms alt_id: HP:0008758 alt_id: HP:0008759 def: "Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose." [] synonym: "Motor stereotypy" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "repetitive behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "repetitive behaviour" EXACT uk_spelling [] synonym: "Repetitive behaviour Stereotypic behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Repetitive 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: "Stereotyped" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotyped behaviours" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypic behaviour" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypic behaviours" EXACT uk_spelling [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behavior" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor behaviors" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Stereotypical motor 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: MSH:D013239 xref: MSH:D019956 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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000734 name: Disinhibition def: "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: "Self-control" EXACT [] xref: SNOMEDCT_US:247977003 xref: UMLS:C0424296 is_a: HP:5200241 ! Recurrent maladaptive behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6624-2975 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2984-1124 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4691-7362 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6581-7754 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7674-1767 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2598-6622 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4014-4490 [Term] id: HP:0000735 name: Impaired social interactions def: "Difficulty interacting with others through emotional, physical, or verbal communication." [] synonym: "Impaired social interaction" EXACT layperson [] synonym: "Impaired social interactions" EXACT layperson [] synonym: "Poor social interactions" EXACT layperson [] xref: MSH:D000067404 xref: SNOMEDCT_US:88598008 xref: UMLS:C0150080 is_a: HP:0012760 ! Reduced social reciprocity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8423-2623 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9114-8737 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0375-6247 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2414-5605 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4487-3589 [Term] id: HP:0000736 name: Short attention span def: "Reduced attention span characterized by distractibility and impulsivity." [PMID:26386541] synonym: "Easily distracted" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Poor attention span" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Problem paying attention" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Short attention span" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:247762003 xref: UMLS:C0262630 is_a: HP:5200044 ! Reduced attention regulation property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0000737 name: Irritability def: "A proneness to anger, i.e., a 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 emotion property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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: MSH:D006212 xref: SNOMEDCT_US:7011001 xref: UMLS:C0018524 xref: UMLS:C0235153 is_a: HP:5200423 ! Abnormal experience of reality property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/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: MSH:D001007 xref: SNOMEDCT_US:48694002 xref: UMLS:C0003467 xref: UMLS:C4020884 is_a: HP:5200230 ! Maladaptive fear-related cognitions property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0692-412X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7405-0954 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-0072-5522 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-0224-647X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3398-7270 property_value: http://purl.org/dc/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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0692-412X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7405-0954 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-0072-5522 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-0224-647X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3398-7270 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0009-0004-0873-4444 [Term] id: HP:0000741 name: Apathy def: "Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed." [] 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: MSH:D057565 xref: SNOMEDCT_US:20602000 xref: UMLS:C0085632 is_a: HP:0000745 ! Diminished motivation property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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: MSH:D012652 xref: SNOMEDCT_US:130968006 xref: UMLS:C0036601 is_a: HP:0100716 ! Self-injurious behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6624-2975 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2984-1124 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4691-7362 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6581-7754 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7674-1767 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2598-6622 property_value: http://purl.org/dc/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 emotion property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4618-6544 [Term] id: HP:0000745 name: Diminished motivation def: "A reduction in goal-directed behavior, that is, motivation, is 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: "Lack of initiative" EXACT layperson [] synonym: "Lack of motivation" EXACT layperson [] synonym: "Lacking in initiative" EXACT layperson [] synonym: "Lacks initiative" EXACT layperson [] synonym: "Psychomotor retardation" EXACT [] synonym: "Psychomotor slowing" EXACT [] xref: SNOMEDCT_US:277521002 xref: UMLS:C0456814 is_a: HP:5200275 ! Abnormal motivation property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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: MSH:D003702 xref: SNOMEDCT_US:2073000 xref: UMLS:C0011253 is_a: HP:5200401 ! Abnormal judgment property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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: MSH:D007805 xref: SNOMEDCT_US:162294008 xref: SNOMEDCT_US:229721007 xref: SNOMEDCT_US:29164008 xref: SNOMEDCT_US:62415009 xref: UMLS:C0023012 xref: UMLS:C0233715 xref: UMLS:C0241210 xref: UMLS:C0454644 is_a: HP:0002167 ! Abnormality of speech or vocalization is_a: HP:0002463 ! Language impairment is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0000751 name: Personality changes def: "An abnormal shift in patterns of thinking, acting, or feeling." [] 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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1111-7357 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7954-5235 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2897-0458 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-4298-5074 property_value: http://purl.org/dc/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: MSH:D006948 xref: SNOMEDCT_US:44548000 xref: UMLS:C0424295 is_a: HP:0000734 ! Disinhibition property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6624-2975 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2984-1124 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4691-7362 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6581-7754 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7674-1767 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2598-6622 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 property_value: http://purl.org/dc/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: MSH:D000379 xref: SNOMEDCT_US:247830007 xref: SNOMEDCT_US:70691001 xref: UMLS:C0001818 is_a: HP:5200232 ! Phobia property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0692-412X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7405-0954 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-0072-5522 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-0224-647X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3398-7270 property_value: http://purl.org/dc/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 indviduals'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 behaviour" 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 layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] xref: UMLS:C4021798 is_a: HP:0034434 ! Abnormal communication property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-5395-5036 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6886-767X property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8423-2623 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9112-5148 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9114-8737 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0375-6247 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2414-5605 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4487-3589 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6670-9157 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 [Term] id: HP:0000759 name: Abnormal peripheral nervous system morphology alt_id: HP:0003483 def: "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)." [https://orcid.org/0000-0002-0736-9199] comment: The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. synonym: "Abnormal peripheral nervous system structure" EXACT layperson [] synonym: "Peripheral nervous system disease" RELATED [] xref: MSH:D010523 xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:42658009 xref: UMLS:C0031117 xref: UMLS:C4025831 is_a: HP:0012639 ! Abnormal nervous system morphology [Term] id: HP:0000762 name: Decreased nerve conduction velocity alt_id: HP:0000761 alt_id: HP:0007118 alt_id: HP:0007218 alt_id: HP:0007231 def: "A reduction in the speed at which electrical signals propagate along the axon of a neuron." [https://orcid.org/0000-0002-0736-9199] comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. synonym: "Decreased NCV" EXACT [] synonym: "Decreased nerve conduction velocities" EXACT [] synonym: "Delayed nerve conduction velocity" EXACT [] synonym: "Reduced nerve conduction velocities" EXACT [] synonym: "Slow nerve conduction velocity" EXACT [] synonym: "Slowed nerve conduction velocities" EXACT [] xref: UMLS:C1857640 is_a: HP:0040129 ! Abnormal nerve conduction velocity [Term] id: HP:0000763 name: Sensory neuropathy alt_id: HP:0003410 alt_id: HP:0006815 alt_id: HP:0007043 alt_id: HP:0007142 def: "Peripheral neuropathy affecting the sensory nerves." [https://orcid.org/0000-0002-0736-9199] synonym: "Damage to nerves that sense feeling" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Peripheral sensory neuropathy" EXACT [] xref: SNOMEDCT_US:95662005 xref: UMLS:C0151313 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0000764 name: Peripheral axonal degeneration alt_id: HP:0006787 alt_id: HP:0006876 alt_id: HP:0007304 def: "Progressive deterioration of peripheral axons." [https://orcid.org/0000-0002-0736-9199] comment: This finding is typically demonstrated by nerve biopsy. xref: UMLS:C4025830 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0000765 name: Abnormal thorax morphology alt_id: HP:0100655 def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the chest" EXACT layperson [] synonym: "Abnormality of the thorax" EXACT [] synonym: "Structural abnormality of the chest wall" EXACT [] xref: UMLS:C4021797 is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000766 name: Abnormal sternum morphology alt_id: HP:0000780 alt_id: HP:0006586 alt_id: HP:0006594 alt_id: HP:0006605 alt_id: HP:0006630 alt_id: HP:0006708 def: "An anomaly of the sternum, also known as the breastbone." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the sternum" EXACT layperson [] synonym: "Pectus carinatum or pectus excavatum" EXACT [] synonym: "Pectus deformities" EXACT [] synonym: "Pectus deformity" EXACT [] synonym: "Pectus excavatum or carinatum" EXACT [] synonym: "Pectus excavatum or pectus carinatum" EXACT [] synonym: "Pectus excavatum/carinatum" EXACT [] synonym: "Sternal anomalies" EXACT layperson [] xref: UMLS:C1860493 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000767 name: Pectus excavatum alt_id: HP:0006613 alt_id: HP:0006617 def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Funnel chest" EXACT layperson [] xref: SNOMEDCT_US:391987005 xref: UMLS:C2051831 is_a: HP:0000766 ! Abnormal sternum morphology [Term] id: HP:0000768 name: Pectus carinatum alt_id: HP:0006639 def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Pigeon chest" EXACT layperson [https://en.wikipedia.org/wiki/pectus_carinatum, https://orcid.org/0000-0001-5208-3432] xref: MSH:D066166 xref: SNOMEDCT_US:205101001 xref: UMLS:C0158731 is_a: HP:0000766 ! Abnormal sternum morphology [Term] id: HP:0000769 name: Abnormality of the breast def: "An abnormality of the breast." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the breast" EXACT layperson [] xref: UMLS:C4025829 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000771 name: Gynecomastia alt_id: HP:0000770 def: "Abnormal development of large mammary glands in males resulting in breast enlargement." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Enlarged male breast" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Gynaecomastia" EXACT [] xref: MSH:D006177 xref: SNOMEDCT_US:4754008 xref: UMLS:C0018418 is_a: HP:0031093 ! Abnormal breast morphology [Term] id: HP:0000772 name: Abnormal rib morphology alt_id: HP:0006618 def: "An anomaly of the rib." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the ribs" EXACT layperson [] synonym: "Rib abnormalities" EXACT layperson [] synonym: "Rib anomalies" EXACT [] xref: UMLS:C1842083 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0000773 name: Short ribs alt_id: HP:0000899 alt_id: HP:0000908 alt_id: HP:0009750 def: "Reduced rib length." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic ribs" EXACT [] synonym: "Rib hypoplasia" EXACT [] synonym: "Short ribs" EXACT layperson [] xref: SNOMEDCT_US:249696007 xref: UMLS:C0426817 is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000774 name: Narrow chest alt_id: HP:0000909 alt_id: HP:0005252 alt_id: HP:0006588 def: "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [https://orcid.org/0000-0002-0736-9199] synonym: "Low chest circumference" EXACT layperson [] synonym: "Narrow chest" EXACT layperson [] synonym: "Narrow shoulders" EXACT layperson [] synonym: "Narrow thorax" EXACT [] synonym: "Reduced anterior-posterior chest diameter" EXACT [] xref: SNOMEDCT_US:249671009 xref: UMLS:C0426790 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0000775 name: Abnormality of the diaphragm alt_id: HP:0005204 def: "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the diaphragm" EXACT layperson [] synonym: "Diaphragm issues" EXACT layperson [] synonym: "Diaphragmatic defect" EXACT layperson [] xref: UMLS:C1848873 is_a: HP:0011805 ! Abnormal skeletal muscle morphology [Term] id: HP:0000776 name: Congenital diaphragmatic hernia alt_id: HP:0006604 def: "The presence of a hernia of the diaphragm present at birth." [https://orcid.org/0000-0002-0736-9199] comment: Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. synonym: "Diaphragmatic hernia" EXACT [] xref: MSH:D065630 xref: SNOMEDCT_US:17190001 xref: UMLS:C0235833 is_a: HP:0000775 ! Abnormality of the diaphragm is_a: HP:0100790 ! Hernia [Term] id: HP:0000777 name: 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: MSH:D053040 xref: UMLS:C0392525 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000789 name: Infertility synonym: "Infertility" EXACT layperson [] xref: MSH:D007246 xref: SNOMEDCT_US:15296000 xref: SNOMEDCT_US:8619003 xref: UMLS:C0021359 is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000790 name: Hematuria def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood in urine" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "High urine occult blood" BROAD layperson [] xref: MSH:D006417 xref: SNOMEDCT_US:34436003 xref: SNOMEDCT_US:53298000 xref: UMLS:C0018965 is_a: HP:0012211 ! Abnormal renal physiology is_a: HP:0012614 ! Abnormal urine cytology [Term] id: HP:0000791 name: Uric acid nephrolithiasis def: "The presence of uric acid-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Uric acid stones" EXACT layperson [] synonym: "Uric acid urolithiasis" EXACT [] xref: SNOMEDCT_US:267441009 xref: UMLS:C0403719 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000793 name: Membranoproliferative glomerulonephritis def: "A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity" [PMID:19908070] synonym: "Mesangiocapillary glomerulonephritis" EXACT [] synonym: "MPGN" EXACT abbreviation [] xref: MSH:D015432 xref: SNOMEDCT_US:80321008 xref: UMLS:C0017662 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000794 name: IgA deposition in the glomerulus def: "The presence of immunoglobulin A deposits in the glomerulus." [HPO_CONTRIBUTOR:Eurenomics_ewuehl] synonym: "IgA nephropathy" RELATED [] xref: MSH:D005922 xref: SNOMEDCT_US:236407003 xref: SNOMEDCT_US:68779003 xref: UMLS:C0017661 xref: UMLS:C4025827 is_a: HP:0030949 ! Glomerular deposits [Term] id: HP:0000795 name: Abnormality of the urethra def: "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Urethra issue" EXACT layperson [] xref: UMLS:C4025826 is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000796 name: Urethral obstruction def: "Obstruction of the flow of urine through the urethra." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D014524 xref: SNOMEDCT_US:95588004 xref: UMLS:C0041972 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000798 name: 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: MSH:D009845 xref: UMLS:C0028960 is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000799 name: Renal steatosis def: "Abnormal fat accumulation in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Fatty kidney" EXACT layperson [] xref: UMLS:C4021796 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000800 name: Cystic renal dysplasia alt_id: HP:0008737 synonym: "Bilateral cystic dysplasia" EXACT [] synonym: "Renal cystic dysplasia" EXACT [] synonym: "Renal dysplasia, cystic" EXACT [] xref: UMLS:C1834931 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000802 name: Impotence def: "Inability to develop or maintain an erection of the penis." [https://orcid.org/0000-0002-0736-9199] synonym: "Difficulty getting a full erection" EXACT layperson [] synonym: "Difficulty getting an erection" EXACT layperson [] xref: MSH:D007172 xref: SNOMEDCT_US:397803000 xref: UMLS:C0242350 is_a: HP:0100639 ! Erectile dysfunction [Term] id: HP:0000803 name: Renal cortical cysts def: "Cysts of the cortex of the kidney." [HPO_CONTRIBUTOR:Eurenomics_fschaefer] synonym: "Cortical cysts" EXACT [] xref: UMLS:C1969144 is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormal renal cortex morphology [Term] id: HP:0000804 name: Xanthine nephrolithiasis def: "The presence of xanthine-containing calculi (stones) in the kidneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Urinary xanthine stones" EXACT [] synonym: "Xanthine stones" EXACT [] xref: UMLS:C1848431 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000805 name: Enuresis def: "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [https://orcid.org/0009-0006-4530-3154] xref: MSH:D004775 xref: SNOMEDCT_US:8009008 xref: UMLS:C0014394 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000807 name: Glandular hypospadias xref: SNOMEDCT_US:204891000 xref: SNOMEDCT_US:429631000124104 xref: UMLS:C0452168 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000808 name: Penoscrotal hypospadias def: "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:204889008 xref: UMLS:C0452147 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000809 name: Urinary tract atresia def: "Congenital absence of the normal opening of a structure of the urinary tract." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1389003 is_a: HP:0000079 ! Abnormality of the urinary system property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T04:07:00Z [Term] id: HP:0000811 name: Abnormal external genitalia synonym: "Abnormal external genitalia" EXACT layperson [] xref: UMLS:C4025825 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0000812 name: Abnormal internal genitalia def: "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal internal genitalia" EXACT layperson [] xref: UMLS:C4025824 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0000813 name: Bicornuate uterus alt_id: HP:0008735 def: "The presence of a bicornuate uterus." [https://orcid.org/0000-0002-0736-9199] comment: Uterus with two horn-shaped branches. synonym: "Heart shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Heart-shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Uterus bicornis" EXACT [] xref: SNOMEDCT_US:31401003 xref: UMLS:C0266387 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0000815 name: Hypergonadotropic hypogonadism alt_id: HP:0008679 def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypergonadotrophic hypogonadism" EXACT [] synonym: "Primary hypogonadism" EXACT [] xref: MSH:D007006 xref: SNOMEDCT_US:370999003 xref: UMLS:C0948896 is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000816 name: Abnormality of Krebs cycle metabolism def: "An abnormality of the tricarboxylic acid cycle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of citric acid cycle" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the tricarboxylic cycle" EXACT [] xref: UMLS:C4021795 is_a: HP:0012379 ! Abnormal circulating enzyme concentration or activity property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-03-17T12:58:00Z [Term] id: HP:0000817 name: Reduced eye contact def: "A reduced frequency or duration of eye contact." [] comment: Eye contact, defined as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. synonym: "Poor eye contact" EXACT layperson [https://orcid.org/0000-0001-9112-5148, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-6670-9157, https://orcid.org/0000-0002-9593-5508] xref: SNOMEDCT_US:412786000 xref: UMLS:C1445953 is_a: HP:0034435 ! Abnormal eye contact property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9112-5148 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6670-9157 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 [Term] id: HP:0000818 name: Abnormality of the endocrine system def: "An abnormality of the endocrine system." [https://orcid.org/0000-0002-0736-9199] comment: The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. synonym: "Endocrine system disease" RELATED [] xref: MSH:D004700 xref: SNOMEDCT_US:362969004 xref: UMLS:C0014130 xref: UMLS:C4025823 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000819 name: Diabetes mellitus alt_id: HP:0004908 alt_id: HP:0008217 alt_id: HP:0008234 alt_id: HP:0008260 def: "A group of abnormalities characterized by hyperglycemia and glucose intolerance." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D003920 xref: SNOMEDCT_US:73211009 xref: UMLS:C0011849 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0001952 ! Glucose intolerance [Term] id: HP:0000820 name: Abnormality of the thyroid gland def: "An abnormality of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the thyroid gland" EXACT layperson [] synonym: "Thyroid abnormality" EXACT layperson [] synonym: "Thyroid disease" RELATED layperson [] xref: MSH:D013959 xref: SNOMEDCT_US:14304000 xref: UMLS:C0040128 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000821 name: Hypothyroidism alt_id: HP:0003222 alt_id: HP:0008203 def: "Deficiency of thyroid hormone." [https://orcid.org/0000-0002-0736-9199] synonym: "Low T4" EXACT [] synonym: "Underactive thyroid" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D007037 xref: SNOMEDCT_US:40930008 xref: UMLS:C0020676 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000822 name: Hypertension alt_id: HP:0004949 alt_id: HP:0005126 def: "The presence of chronic increased pressure in the systemic arterial system." [https://orcid.org/0000-0002-0736-9199] comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. synonym: "Arterial hypertension" EXACT [] synonym: "High blood pressure" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Systemic hypertension" EXACT [] xref: MSH:D006973 xref: SNOMEDCT_US:24184005 xref: SNOMEDCT_US:38341003 xref: UMLS:C0020538 xref: UMLS:C0497247 is_a: HP:0032263 ! Increased blood pressure [Term] id: HP:0000823 name: Delayed puberty alt_id: HP:0008859 alt_id: HP:0010466 alt_id: HP:0010467 def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [https://orcid.org/0000-0002-0736-9199] comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. synonym: "Delayed pubertal development" EXACT layperson [] synonym: "Delayed pubertal growth" EXACT layperson [] synonym: "Delayed puberty" EXACT layperson [] synonym: "Pubertal delay" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:D011628 xref: SNOMEDCT_US:123526007 xref: SNOMEDCT_US:400003000 xref: UMLS:C0034012 is_a: HP:0001510 ! Growth delay is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000824 name: Decreased response to growth hormone stimulation test alt_id: HP:0000861 alt_id: HP:0008195 alt_id: HP:0008206 def: "Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [https://orcid.org/0000-0002-0736-9199, PMID:25914878] comment: GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. synonym: "Growth hormone deficiency" EXACT layperson [] synonym: "Somatotropin deficiency" EXACT [] xref: SNOMEDCT_US:2109003 xref: UMLS:C3714796 is_a: HP:0000830 ! Anterior hypopituitarism is_a: HP:0031073 ! Abnormal response to endocrine stimulation test [Term] id: HP:0000825 name: Hyperinsulinemic hypoglycemia def: "An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] comment: Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. synonym: "Hyperinsulinaemic hypoglycaemia" EXACT [] synonym: "Hyperinsulinemia hypoglycemia" EXACT [] xref: UMLS:C1864903 is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0000826 name: Precocious puberty def: "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [https://orcid.org/0000-0002-0736-9199] synonym: "Early onset of puberty" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Early puberty" EXACT layperson [] xref: MSH:D011629 xref: SNOMEDCT_US:123527003 xref: SNOMEDCT_US:400179000 xref: UMLS:C0034013 is_a: HP:0100000 ! Early onset of sexual maturation [Term] id: HP:0000828 name: Abnormality of the parathyroid gland def: "An abnormality of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199] comment: There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. synonym: "Parathyroid disease" RELATED [] xref: MSH:D010279 xref: SNOMEDCT_US:73132005 xref: UMLS:C0030517 xref: UMLS:C4025822 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000829 name: Hypoparathyroidism alt_id: HP:0000856 alt_id: HP:0008292 def: "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased parathyroid hormone secretion" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Low parathyroid hormone" EXACT [] xref: MSH:D007011 xref: SNOMEDCT_US:36976004 xref: UMLS:C0020626 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000830 name: Anterior hypopituitarism def: "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025821 is_a: HP:0040075 ! Hypopituitarism [Term] id: HP:0000831 name: Insulin-resistant diabetes mellitus def: "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels." [https://orcid.org/0000-0002-0736-9199, PMID:7706500] synonym: "Insulin resistant diabetes" EXACT layperson [] synonym: "Insulin resistant diabetes mellitus" EXACT [] synonym: "Insulin-resistant diabetes" EXACT layperson [] xref: UMLS:C0854110 is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0000855 ! Insulin resistance [Term] id: HP:0000832 name: Primary hypothyroidism def: "A type of hypothyroidism that results from a defect in the thyroid gland." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:111566002 xref: UMLS:C0700502 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000833 name: obsolete Glucose intolerance is_obsolete: true replaced_by: HP:0001952 [Term] id: HP:0000834 name: Abnormality of the adrenal glands def: "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [https://orcid.org/0000-0002-0736-9199] synonym: "Adrenal abnormalities" EXACT layperson [] synonym: "Adrenal gland disease" RELATED layperson [] xref: MSH:D000307 xref: SNOMEDCT_US:30171000 xref: UMLS:C0001621 xref: UMLS:C4021794 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000835 name: Adrenal hypoplasia def: "Developmental hypoplasia of the adrenal glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Adrenal gland hypoplasia" EXACT [] synonym: "Hypoplastic adrenal glands" EXACT [] synonym: "Small adrenal glands" EXACT layperson [] synonym: "Underdeveloped adrenal glands" EXACT [] xref: MSH:C538429 xref: SNOMEDCT_US:237774001 xref: UMLS:C0342491 xref: UMLS:C1846223 is_a: HP:0011732 ! 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: MSH:D006980 xref: SNOMEDCT_US:34486009 xref: UMLS:C0020550 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000837 name: Increased circulating gonadotropin level alt_id: HP:0030340 def: "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland." [https://orcid.org/0000-0002-0538-4547] synonym: "Elevated gonadotropins" EXACT layperson [] synonym: "Elevated serum gonadotropins" EXACT layperson [] synonym: "Gonadotropin excess" EXACT layperson [] synonym: "Increased circulating gonadotropin level" EXACT layperson [] xref: UMLS:C1862265 is_a: HP:0010514 ! Hyperpituitarism is_a: HP:0030338 ! Abnormal circulating gonadotropin concentration [Term] id: HP:0000839 name: Pituitary dwarfism def: "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D004393 xref: SNOMEDCT_US:367460001 xref: SNOMEDCT_US:7530009 xref: UMLS:C0013338 is_a: HP:0004322 ! Short stature [Term] id: HP:0000840 name: Adrenogenital syndrome alt_id: HP:0001921 def: "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D047808 xref: SNOMEDCT_US:237751000 xref: SNOMEDCT_US:267395000 xref: SNOMEDCT_US:271077003 xref: UMLS:C0302280 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000841 name: Hyperactive renin-angiotensin system def: "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms." [https://orcid.org/0000-0002-0736-9199] comment: If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. synonym: "Increased plasma renin activity" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1846345 xref: UMLS:C3150267 is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0000842 name: Hyperinsulinemia def: "An increased concentration of insulin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated insulin level" EXACT [] xref: MSH:D006946 xref: SNOMEDCT_US:83469008 xref: UMLS:C0020459 is_a: HP:0011014 ! Abnormal glucose homeostasis is_a: HP:0040214 ! Abnormal circulating insulin concentration [Term] id: HP:0000843 name: Hyperparathyroidism def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated blood parathyroid hormone level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006961 xref: SNOMEDCT_US:66999008 xref: UMLS:C0020502 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000845 name: Elevated circulating growth hormone concentration alt_id: HP:0008856 def: "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] comment: Disorder resulting from excess pituitary gland production of growth hormone (hGH). synonym: "Elevated circulating somatotropin concentration" EXACT [] synonym: "Growth hormone excess" EXACT layperson [] synonym: "Somatotropin excess" EXACT [] xref: MSH:C531600 xref: MSH:D000172 xref: SNOMEDCT_US:74107003 xref: UMLS:C0001206 xref: UMLS:C0235986 is_a: HP:0010514 ! Hyperpituitarism is_a: HP:0032367 ! Abnormal growth hormone level [Term] id: HP:0000846 name: Adrenal insufficiency alt_id: HP:0000865 alt_id: HP:0008218 def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands." [https://orcid.org/0000-0002-0736-9199, PMID:11443143] comment: Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. synonym: "Hypoadrenalism" EXACT [] xref: MSH:D000309 xref: SNOMEDCT_US:111563005 xref: SNOMEDCT_US:237785004 xref: SNOMEDCT_US:386584007 xref: UMLS:C0001623 is_a: HP:0011733 ! Abnormality of adrenal physiology [Term] id: HP:0000847 name: Abnormality of renin-angiotensin system alt_id: HP:0003350 def: "An abnormality of the renin-angiotensin system." [https://orcid.org/0000-0002-0736-9199] comment: The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. synonym: "Abnormality of the renin-aldosterone axis" EXACT [] xref: UMLS:C4021793 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000848 name: Increased circulating renin level alt_id: HP:0003615 def: "An increased level of renin in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated blood renin level" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Elevated plasma renin" EXACT [] synonym: "Hyperreninemia" EXACT [] synonym: "Increased plasma renin" EXACT [] synonym: "Increased serum renin" EXACT [] xref: UMLS:C0240783 is_a: HP:0040084 ! Abnormal circulating renin [Term] id: HP:0000849 name: Adrenocortical abnormality xref: UMLS:C4025820 is_a: HP:0011732 ! 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: MSH:D003409 xref: SNOMEDCT_US:190268003 xref: SNOMEDCT_US:217710005 xref: UMLS:C0010308 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000852 name: Pseudohypoparathyroidism def: "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D011547 xref: SNOMEDCT_US:58976002 xref: UMLS:C0033806 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000853 name: Goiter def: "An enlargement of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged thyroid gland in neck" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Goitre" EXACT uk_spelling [] synonym: "Thyroid goiter" EXACT [] synonym: "Thyroid goitre" EXACT uk_spelling [] xref: MSH:D006042 xref: SNOMEDCT_US:3716002 xref: UMLS:C0018021 is_a: HP:0011772 ! Abnormal thyroid morphology [Term] id: HP:0000854 name: Thyroid adenoma def: "The presence of a adenoma of the thyroid gland." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D013964 xref: NCIT:C2855 xref: SNOMEDCT_US:255033000 xref: SNOMEDCT_US:255034006 xref: UMLS:C0151468 is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0000855 name: Insulin resistance def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [https://orcid.org/0000-0002-0736-9199] synonym: "Body fails to respond to insulin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D007333 xref: SNOMEDCT_US:48606007 xref: UMLS:C0021655 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000857 name: Neonatal insulin-dependent diabetes mellitus xref: UMLS:C3278636 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000858 name: Irregular menstruation def: "Abnormally high variation in the amount of time between periods." [PMID:29323693] comment: Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. synonym: "Irregular menses" EXACT [] synonym: "Irregular periods" EXACT [] synonym: "Menstrual irregularities" EXACT [] synonym: "Menstrual irregularity" EXACT layperson [] xref: SNOMEDCT_US:80182007 xref: UMLS:C0156404 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000859 name: Hyperaldosteronism alt_id: HP:0004318 alt_id: HP:0005975 def: "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Elevated plasma aldosterone" EXACT layperson [] synonym: "Increased aldosterone" EXACT layperson [] synonym: "Increased aldosterone production" EXACT layperson [] synonym: "Mineralocorticoid excess" EXACT [] xref: MSH:D006929 xref: SNOMEDCT_US:88213004 xref: UMLS:C0020428 is_a: HP:0002717 ! Adrenal overactivity [Term] id: HP:0000860 name: Parathyroid hypoplasia def: "Developmental hypoplasia of the parathyroid gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Small parathyroid glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped parathyroid glands" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1389851 is_a: HP:0011768 ! Parathyroid dysgenesis [Term] id: HP:0000863 name: Central diabetes insipidus alt_id: HP:0008210 def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [https://orcid.org/0000-0002-0736-9199] synonym: "Neurohypophyseal diabetes insipidus" EXACT [] xref: MSH:D020790 xref: SNOMEDCT_US:45369008 xref: UMLS:C0687720 is_a: HP:0000873 ! Diabetes insipidus [Term] id: HP:0000864 name: Abnormality of the hypothalamus-pituitary axis alt_id: HP:0000838 alt_id: HP:0000844 def: "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [https://orcid.org/0000-0002-0538-4547] xref: UMLS:C4025819 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000866 name: Euthyroid multinodular goiter synonym: "Euthyroid multinodular goitre" EXACT uk_spelling [] xref: UMLS:C1846034 is_a: HP:0009798 ! Euthyroid goiter [Term] id: HP:0000867 name: Secondary hyperparathyroidism def: "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia." [https://orcid.org/0000-0002-0736-9199, PMID:19836494] comment: Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. xref: MSH:D006962 xref: SNOMEDCT_US:91478007 xref: UMLS:C0020503 is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0000868 name: Decreased fertility in females synonym: "Decreased fertility in females" EXACT layperson [] synonym: "Reduced fertility in females" EXACT layperson [] xref: UMLS:C0151639 is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000869 name: Secondary amenorrhea synonym: "Previous menstrual periods stop" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:86030004 xref: UMLS:C0232940 is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000870 name: Increased circulating prolactin concentration def: "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199] synonym: "Hyperprolactinaemia" EXACT [] synonym: "Hyperprolactinemia" EXACT [] synonym: "Prolactin excess" EXACT [] xref: MSH:D006966 xref: SNOMEDCT_US:237662005 xref: UMLS:C0020514 is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000871 name: Panhypopituitarism def: "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [https://orcid.org/0000-0002-0736-9199, PMID:12466332] xref: MSH:C580003 xref: SNOMEDCT_US:32390006 xref: UMLS:C0242343 is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0000872 name: Hashimoto thyroiditis def: "A chronic, autoimmune type of thyroiditis associated with hypothyroidism." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic lymphocytic thyroiditis" EXACT [] synonym: "Hashimoto's thyroiditis" EXACT [] xref: MSH:D050031 xref: SNOMEDCT_US:21983002 xref: UMLS:C0677607 is_a: HP:0002960 ! Autoimmunity is_a: HP:0100646 ! Thyroiditis [Term] id: HP:0000873 name: Diabetes insipidus def: "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D003919 xref: SNOMEDCT_US:15771004 xref: UMLS:C0011848 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000875 name: Episodic hypertension synonym: "Intermittent high blood pressure" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1857175 is_a: HP:0000822 ! Hypertension [Term] id: HP:0000876 name: Oligomenorrhea def: "Infrequent menses (less than 6 per year or more than 35 days between cycles)." [https://orcid.org/0000-0002-0736-9199, PMID:22594864] synonym: "Light or infrequent menstrual periods" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D009839 xref: SNOMEDCT_US:52073004 xref: UMLS:C0028949 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000877 name: Insulin-resistant diabetes mellitus at puberty synonym: "Insulin-resistant diabetes mellitus at puberty" EXACT layperson [] xref: UMLS:C1837792 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000878 name: 11 pairs of ribs def: "Presence of only 11 pairs of ribs." [https://orcid.org/0000-0002-0736-9199] comment: Normally, there are 12 pairs of ribs. subset: hposlim_core synonym: "11 pairs of ribs" EXACT layperson [] xref: UMLS:C1839731 is_a: HP:0000921 ! Missing ribs [Term] id: HP:0000879 name: Short sternum def: "Decreased inferosuperior length of the sternum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic sternum" RELATED [] synonym: "Short sternum" EXACT layperson [] xref: SNOMEDCT_US:298724002 xref: UMLS:C0575497 xref: UMLS:C4020883 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0000882 name: Hypoplastic scapulae alt_id: HP:0000906 alt_id: HP:0006616 def: "Underdeveloped scapula." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplastic scapula" EXACT [] synonym: "Scapular hypoplasia" EXACT [] synonym: "Short scapulae" EXACT [] synonym: "Small scapula" EXACT [] synonym: "Small scapulae" EXACT [] synonym: "Small shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846434 is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae [Term] id: HP:0000883 name: Thin ribs def: "Ribs with a reduced diameter." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Slender ribs" EXACT layperson [] synonym: "Thin ribs" EXACT layperson [] xref: SNOMEDCT_US:249697003 xref: UMLS:C0426818 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000884 name: Prominent sternum synonym: "Prominent sternum" EXACT layperson [] synonym: "Sternal protrusion" EXACT [] xref: UMLS:C1846433 is_a: HP:0000766 ! Abnormal sternum morphology [Term] id: HP:0000885 name: Broad ribs alt_id: HP:0000903 alt_id: HP:0000950 alt_id: HP:0006667 def: "Increased width of ribs" [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Broad ribs" EXACT layperson [] synonym: "Wide ribs" EXACT layperson [] xref: UMLS:C1848654 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000886 name: Deformed rib cage def: "Malformation of the rib cage." [https://orcid.org/0000-0002-0736-9199] synonym: "Deformed rib cage" EXACT layperson [] xref: UMLS:C1838659 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0000887 name: Cupped ribs alt_id: HP:0006635 def: "Wide, concave rib end." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cupped ribs" EXACT layperson [] synonym: "Rib cupping" EXACT layperson [] synonym: "Rib flaring" RELATED layperson [] xref: SNOMEDCT_US:249704008 xref: UMLS:C0426826 xref: UMLS:C1865039 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000888 name: Horizontal ribs def: "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12." [https://orcid.org/0000-0002-0736-9199] synonym: "Horizontal ribs" EXACT layperson [] xref: UMLS:C3806510 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000889 name: Abnormal clavicle morphology def: "Any abnormality of the clavicles (collar bones)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal clavicles" EXACT [] synonym: "Abnormal collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the clavicle" EXACT [] xref: UMLS:C4021792 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0000890 name: Long clavicles alt_id: HP:0006592 def: "Increased length of the clavicles." [https://orcid.org/0000-0002-0736-9199] synonym: "Elongated clavicles" EXACT [] synonym: "Long collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:249687007 xref: UMLS:C0426808 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0000891 name: Cervical ribs subset: hposlim_core xref: MSH:D057070 xref: SNOMEDCT_US:72535009 xref: UMLS:C0158779 is_a: HP:0005815 ! Supernumerary ribs [Term] id: HP:0000892 name: Bifid ribs def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [https://orcid.org/0000-0002-0736-9199] synonym: "Cleft ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Split ribs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4721788 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000893 name: Bulging of the costochondral junction def: "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage." [https://orcid.org/0000-0002-0736-9199] comment: The costochondral junction is the structure where the ribs articulate with the sternum. xref: UMLS:C1848538 is_a: HP:0000766 ! Abnormal sternum morphology is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000894 name: Short clavicles alt_id: HP:0000898 alt_id: HP:0005698 alt_id: HP:0005902 def: "Reduced length of the clavicles." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Clavicular hypoplasia" EXACT [] synonym: "Hypoplastic clavicles" EXACT [] synonym: "Short collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped clavicles" EXACT [] xref: SNOMEDCT_US:93250003 xref: UMLS:C0426799 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0000895 name: Lateral clavicle hook def: "An excessive upward convexity of the lateral clavicle." [https://orcid.org/0000-0002-0736-9199, PMID:7322653] synonym: "Handlebar clavicle" EXACT [] synonym: "Hook-shaped clavicle" EXACT [] synonym: "Hook-shaped collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hooked clavicle" EXACT [] xref: SNOMEDCT_US:249684000 xref: UMLS:C0426805 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0000896 name: Rib exostoses def: "Multiple circumscribed bony excrescences located in the ribs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1835579 is_a: HP:0000772 ! Abnormal rib morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0000897 name: Rachitic rosary def: "A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary." [https://orcid.org/0000-0002-0736-9199, PMID:26745253] comment: Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene. xref: SNOMEDCT_US:15214001 xref: SNOMEDCT_US:249702007 is_a: HP:0000766 ! Abnormal sternum morphology is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000900 name: Thickened ribs def: "Increased thickness (diameter) of ribs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:249699000 xref: UMLS:C0426820 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000902 name: Rib fusion alt_id: HP:0000880 def: "Complete or partial merging of adjacent ribs." [https://orcid.org/0000-0002-0736-9199] synonym: "Fused ribs" EXACT layperson [] synonym: "Rib fusion" EXACT layperson [] xref: UMLS:C1844749 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000904 name: Flaring of rib cage alt_id: HP:0006656 def: "The presence of wide, concave anterior rib ends." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior flaring of ribs" EXACT [] synonym: "Flaring of rib cage" EXACT layperson [] xref: UMLS:C1854780 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000905 name: Progressive clavicular acroosteolysis def: "Progressive bone resorption in the distal part of the clavicle." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive acroosteolysis of the clavicle" EXACT [] xref: UMLS:C1837757 is_a: HP:0000889 ! Abnormal clavicle morphology is_a: HP:0002797 ! Osteolysis [Term] id: HP:0000907 name: Anterior rib cupping alt_id: HP:0006601 def: "Wide, concave anterior rib end." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior cupping of ribs" EXACT [] synonym: "Anteriorly splayed ribs" EXACT [] xref: UMLS:C1846154 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000910 name: Wide-cupped costochondral junctions xref: UMLS:C1861213 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000911 name: Flat glenoid fossa def: "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [https://orcid.org/0000-0002-0736-9199, PMID:15163819] comment: See PMID:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa. xref: UMLS:C1855177 is_a: HP:0011912 ! Abnormality of the glenoid fossa [Term] id: HP:0000912 name: Sprengel anomaly alt_id: HP:0006621 def: "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)." [https://orcid.org/0000-0002-0736-9199] comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. subset: hposlim_core synonym: "Congenital, upward displacement of the scapula" EXACT [] synonym: "High scapula" EXACT [https://en.wikipedia.org/wiki/sprengel%27s_deformity, https://orcid.org/0000-0001-5208-3432] synonym: "High shoulder blade" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Sprengel deformity" EXACT [] xref: MEDDRA:10010455 "Congenital elevation of scapula" xref: MSH:C535802 xref: SNOMEDCT_US:79120002 xref: UMLS:C0152438 is_a: HP:0000782 ! Abnormal scapula morphology [Term] id: HP:0000913 name: Posterior rib fusion def: "Complete or partial merging of the posterior part of adjacent ribs." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1842084 is_a: HP:0000902 ! Rib fusion [Term] id: HP:0000914 name: Shield chest def: "A broad chest." [https://orcid.org/0000-0002-0736-9199, PMID:22368597] comment: Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome. synonym: "Broad chest" RELATED layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Shield chest" EXACT layperson [] xref: UMLS:C1834124 xref: UMLS:C1839248 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0000915 name: Pectus excavatum of inferior sternum def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [https://orcid.org/0000-0002-0736-9199] synonym: "Pectus excavatum inferiorly" EXACT [] xref: UMLS:C1864796 is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0000916 name: Broad clavicles alt_id: HP:0006651 def: "Increased width (cross-sectional diameter) of the clavicles." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Broad collarbone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:249680009 xref: UMLS:C0426801 is_a: HP:0000889 ! Abnormal clavicle morphology [Term] id: HP:0000917 name: Superior pectus carinatum def: "Pectus carinatum affecting primarily the superior part of the sternum." [https://orcid.org/0000-0002-0736-9199] synonym: "Pectus carinatum superiorly" EXACT [] xref: UMLS:C1864795 is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0000918 name: Scapular exostoses def: "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage." [https://orcid.org/0000-0002-0736-9199] synonym: "Scapulae exostoses" EXACT [] synonym: "Shoulder bone exostoes" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1851415 is_a: HP:0000782 ! Abnormal scapula morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0000919 name: Abnormality of the costochondral junction def: "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [https://orcid.org/0000-0002-0736-9199] comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. synonym: "Costochondral juctions abnormal" EXACT [] xref: UMLS:C4021791 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000920 name: Enlargement of the costochondral junction alt_id: HP:0006620 def: "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Costochondral thickening" EXACT [] synonym: "Enlarged costochondral junctions" EXACT [] synonym: "Prominent costochondral junction" EXACT [] synonym: "Wide costochondral junctions" EXACT [] synonym: "Widened costochondral junction" EXACT [] xref: UMLS:C1857180 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000921 name: Missing ribs alt_id: HP:0000881 alt_id: HP:0006627 def: "A developmental anomaly with absence of one or more ribs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent ribs" EXACT layperson [] synonym: "Decreased rib number" EXACT layperson [] synonym: "Missing ribs" EXACT layperson [] xref: SNOMEDCT_US:249695006 xref: UMLS:C0426816 is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000922 name: Posterior rib cupping alt_id: HP:0006622 def: "Wide, concave posterior rib end." [https://orcid.org/0000-0002-0736-9199] synonym: "Anterior and posterior rib cupping" EXACT [] xref: UMLS:C1837483 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000923 name: Beaded ribs def: "The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage." [https://orcid.org/0000-0002-0736-9199] comment: Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children. xref: UMLS:C0426824 is_a: HP:0000772 ! Abnormal rib morphology [Term] id: HP:0000924 name: Abnormality of the skeletal system def: "An abnormality of the skeletal system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the skeletal system" EXACT layperson [] synonym: "Skeletal abnormalities" EXACT layperson [] synonym: "Skeletal anomalies" EXACT layperson [] xref: UMLS:C4021790 is_a: HP:0033127 ! Abnormality of the musculoskeletal system [Term] id: HP:0000925 name: Abnormality of the vertebral column def: "Any abnormality of the vertebral column." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal spine" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormal vertebral column" EXACT layperson [] synonym: "Abnormality of the backbone" RELATED layperson [] synonym: "Abnormality of the spine" EXACT layperson [] synonym: "Abnormality of the vertebral column" EXACT layperson [] xref: UMLS:C4020882 xref: UMLS:C4021789 is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000926 name: Platyspondyly alt_id: HP:0002940 alt_id: HP:0003421 alt_id: HP:0004595 alt_id: HP:0004623 alt_id: HP:0004627 alt_id: HP:0005123 alt_id: HP:0005644 alt_id: HP:0008466 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Flat vertebral bodies" EXACT [] synonym: "Flattened vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Flattened vertebral bodies" EXACT [] xref: UMLS:C1844704 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0000927 name: Abnormality of skeletal maturation def: "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of skeletal maturation" EXACT layperson [] xref: UMLS:C4025818 is_a: HP:0011843 ! Abnormal musculoskeletal physiology [Term] id: HP:0000929 name: Abnormal skull morphology def: "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the skull" EXACT layperson [] synonym: "Abnormality of the skull bones" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C0235942 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000930 name: Elevated imprint of the transverse sinuses synonym: "Elevated imprint of occipital bone over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Elevated imprint of posterior skull bones over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thinning and bulging of occipital bone over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Thinning and bulging of posterior skull bones over the transverse sinuses" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025817 is_a: HP:0002693 ! 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: MSH:D002805 xref: SNOMEDCT_US:201637001 xref: SNOMEDCT_US:239832006 xref: SNOMEDCT_US:239838005 xref: UMLS:C0553730 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0010766 ! Ectopic calcification is_a: HP:0100685 ! Abnormal Sharpey fiber morphology [Term] id: HP:0000935 name: Thickened cortex of long bones def: "Abnormal thickening of the cortex of long bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad cortex of long bones" EXACT [] synonym: "Cortical thickening of the long bones" EXACT [] synonym: "Thickened cortices of long bones" EXACT [] xref: UMLS:C1840418 is_a: HP:0011314 ! Abnormal long bone morphology is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0000938 name: Osteopenia alt_id: HP:0002768 alt_id: HP:0002799 alt_id: HP:0002800 def: "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [https://orcid.org/0000-0002-0736-9199, PMID:21234807] synonym: "Generalised osteopenia" EXACT uk_spelling [] synonym: "Generalized osteopenia" EXACT [] synonym: "Osteopaenia" EXACT uk_spelling [] xref: MSH:D001851 xref: SNOMEDCT_US:312894000 xref: SNOMEDCT_US:78441005 xref: UMLS:C0029453 xref: UMLS:C0747078 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000939 name: Osteoporosis alt_id: HP:0002774 def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [https://orcid.org/0000-0002-0736-9199, PMID:28293453] comment: Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. xref: MSH:D010024 xref: SNOMEDCT_US:64859006 xref: UMLS:C0029456 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000940 name: Abnormal diaphysis morphology alt_id: HP:0006504 def: "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of shaft of long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality involving the diaphyses of the limbs" EXACT [] synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the diaphyses" EXACT [] synonym: "Anomaly of the limb diaphyses" EXACT [] synonym: "Anomaly of the limb diaphyses morphology" EXACT [] xref: UMLS:C4021787 is_a: HP:0002813 ! 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: MSH:D008059 xref: SNOMEDCT_US:254069004 xref: SNOMEDCT_US:65327002 xref: UMLS:C0086795 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0000944 name: Abnormal metaphysis morphology alt_id: HP:0006506 def: "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the wide portion of a long bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025814 is_a: HP:0002813 ! 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: MSH:D012868 xref: MSH:D012871 xref: SNOMEDCT_US:199879009 xref: SNOMEDCT_US:95320005 xref: UMLS:C0037268 xref: UMLS:C0037274 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0000952 name: Jaundice def: "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [https://orcid.org/0000-0002-0736-9199] synonym: "Icterus" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Jaundice" EXACT layperson [] synonym: "Yellow skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Yellowing of the skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D007565 xref: SNOMEDCT_US:18165001 xref: UMLS:C0022346 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0001396 ! Cholestasis [Term] id: HP:0000953 name: Hyperpigmentation of the skin alt_id: HP:0007527 def: "A darkening of the skin related to an increase in melanin production and deposition." [https://orcid.org/0000-0002-0736-9199] synonym: "Cutaneous hyperpigmentation" EXACT [] synonym: "Hyperpigmented lesion" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Increased skin pigmentation" EXACT [] synonym: "Melanoderma" RELATED [] synonym: "Melanodermia" RELATED [] synonym: "Patchy darkened skin" EXACT layperson [] synonym: "Skin hyperpigmentation" EXACT [] xref: MSH:D017495 xref: SNOMEDCT_US:4830009 xref: SNOMEDCT_US:49765009 xref: UMLS:C0162834 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000954 name: Single transverse palmar crease alt_id: HP:0006214 def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present). subset: hposlim_core synonym: "Simian crease" EXACT [] synonym: "Simian creases" EXACT [] synonym: "Simian line" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Single flexion crease" EXACT [] synonym: "Single palmar crease" EXACT [] synonym: "Single palmar creases" EXACT [] synonym: "Single transverse palmar creases" EXACT [] synonym: "Transverse palmar crease" EXACT [] xref: SNOMEDCT_US:248409006 xref: UMLS:C0424731 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0000956 name: Acanthosis nigricans alt_id: HP:0007498 alt_id: HP:0007518 alt_id: HP:0007591 def: "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [https://orcid.org/0000-0003-1773-4011, PMID:19061584] comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. subset: secondary_consequence synonym: "Darkened and thickened skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Keratosis nigricans" EXACT [https://orcid.org/0000-0001-6908-9849] xref: MSH:D000052 xref: SNOMEDCT_US:402599005 xref: SNOMEDCT_US:72129000 xref: UMLS:C0000889 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000957 name: Cafe-au-lait spot alt_id: HP:0005601 alt_id: HP:0007454 def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [https://orcid.org/0000-0002-0736-9199] comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. synonym: "Birthmark" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Cafe au lait spots" EXACT [] synonym: "Cafe-au-lait macule" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Cafe-au-lait macules" EXACT [] synonym: "Cafe-au-lait spots" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Flat light-brown mark on skin" BROAD layperson [] xref: MSH:D019080 xref: SNOMEDCT_US:201281002 xref: SNOMEDCT_US:51089004 xref: UMLS:C0221263 xref: UMLS:C0265974 is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0000958 name: Dry skin def: "Skin characterized by the lack of natural or normal moisture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Dry skin" EXACT layperson [] synonym: "Xerosis" EXACT [] xref: MEDDRA:10048222 "Xerosis" xref: SNOMEDCT_US:16386004 xref: UMLS:C0151908 xref: UMLS:C0259817 is_a: HP:0011121 ! 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: MSH:D003490 xref: SNOMEDCT_US:119419001 xref: SNOMEDCT_US:3415004 xref: UMLS:C0010520 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0000962 name: Hyperkeratosis alt_id: HP:0007523 def: "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MEDDRA:10020649 "Hyperkeratosis" xref: SNOMEDCT_US:26996000 xref: SNOMEDCT_US:396228006 xref: SNOMEDCT_US:399955009 xref: UMLS:C0870082 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000963 name: Thin skin alt_id: HP:0001020 def: "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Thin skin" EXACT layperson [] xref: SNOMEDCT_US:277797007 xref: UMLS:C0423757 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0000964 name: Eczema alt_id: HP:0001481 def: "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [https://orcid.org/0000-0002-0736-9199] comment: Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. synonym: "Eczema" EXACT layperson [] xref: MSH:D004485 xref: SNOMEDCT_US:281104002 xref: SNOMEDCT_US:43116000 xref: UMLS:C0013595 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000965 name: Cutis marmorata alt_id: HP:0001037 def: "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core xref: UMLS:C0263401 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0000966 name: Hypohidrosis alt_id: HP:0007551 alt_id: HP:0007571 def: "Abnormally diminished capacity to sweat." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased ability to sweat" EXACT layperson [] synonym: "Decreased sweating" EXACT layperson [] synonym: "Inadequate sweating" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Oligohidrosis" EXACT [] synonym: "Sweating, decreased" EXACT layperson [] xref: MEDDRA:10021013 "Hypohidrosis" xref: MSH:D007007 xref: SNOMEDCT_US:45004005 xref: UMLS:C0020620 is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis [Term] id: HP:0000967 name: Petechiae def: "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [https://orcid.org/0000-0002-0736-9199, PMID:29493956] subset: hposlim_core xref: MEDDRA:10034754 "Petechiae" xref: MSH:D011693 xref: SNOMEDCT_US:271813007 xref: SNOMEDCT_US:50091001 xref: UMLS:C0031256 is_a: HP:0031365 ! Macular purpura [Term] id: HP:0000968 name: Ectodermal dysplasia alt_id: HP:0007615 def: "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands." [https://orcid.org/0000-0002-0736-9199] comment: This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. xref: MSH:D004476 xref: SNOMEDCT_US:254154003 xref: SNOMEDCT_US:8654005 xref: UMLS:C0013575 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000969 name: Edema alt_id: HP:0000990 def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [https://orcid.org/0000-0002-0736-9199] comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. synonym: "Dropsy" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Fluid retention" EXACT layperson [] synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] synonym: "Water retention" EXACT layperson [] xref: MSH:D004487 xref: SNOMEDCT_US:20741006 xref: SNOMEDCT_US:267038008 xref: SNOMEDCT_US:423666004 xref: SNOMEDCT_US:79654002 xref: UMLS:C0013604 is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0000970 name: Anhidrosis def: "Inability to sweat." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Anhydrosis" EXACT [] synonym: "Lack of sweating" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432] synonym: "Sudomotor dysfunction" EXACT [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432] synonym: "Sweating dysfunction" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10002512 "Anhidrosis" xref: MSH:D007007 xref: SNOMEDCT_US:14662005 xref: SNOMEDCT_US:39659002 xref: UMLS:C0003028 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0000971 name: Abnormal sweat gland morphology def: "Any structural abnormality of the sweat gland." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormalities of sweating" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the sweat gland" EXACT layperson [] synonym: "Sweat gland disease" RELATED layperson [] xref: MSH:D013543 xref: SNOMEDCT_US:88232005 xref: UMLS:C0038986 xref: UMLS:C0262643 xref: UMLS:C4020881 is_a: HP:0011138 ! 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: MSH:D007645 xref: SNOMEDCT_US:706885006 xref: UMLS:C0022596 is_a: HP:0007556 ! Plantar hyperkeratosis is_a: HP:0010765 ! Palmar hyperkeratosis [Term] id: HP:0000973 name: Cutis laxa def: "Wrinkled, redundant, inelastic and sagging skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Chalazoderma" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849] synonym: "Cutaneous laxity" EXACT [] synonym: "Dermatochalasia" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849] synonym: "Dermatomegaly" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849] synonym: "Elastolysis" EXACT [] synonym: "Generalised elastolysis" EXACT uk_spelling [] synonym: "Generalized elastolysis" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, https://orcid.org/0000-0001-6908-9849] synonym: "Hanging skin" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Hypoelastic skin" EXACT [] synonym: "Inelastic skin" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Lax skin" EXACT [] synonym: "Loose and inelastic skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Loose skin" EXACT [] synonym: "Skin laxity" EXACT [] xref: MSH:C531660 xref: MSH:D003483 xref: SNOMEDCT_US:58588007 xref: UMLS:C0010495 xref: UMLS:C2930812 xref: UMLS:C4280606 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000974 name: Hyperextensible skin alt_id: HP:0007389 alt_id: HP:0007493 alt_id: HP:0007578 def: "A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [https://orcid.org/0009-0006-4530-3154] comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. subset: hposlim_core synonym: "Hyperelastic skin" EXACT layperson [] synonym: "Skin hyperelasticity" EXACT layperson [] synonym: "Skin hyperextensibility" EXACT [] synonym: "Stretchable skin" EXACT layperson [] xref: UMLS:C0241074 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000975 name: Hyperhidrosis alt_id: HP:0001011 alt_id: HP:0001064 alt_id: HP:0007424 def: "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [https://orcid.org/0000-0002-0736-9199] comment: The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. subset: hposlim_core synonym: "Diaphoresis" EXACT [] synonym: "Excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased sweating" EXACT layperson [] synonym: "Profuse sweating" EXACT layperson [] synonym: "Sweating" EXACT layperson [] synonym: "Sweating profusely" EXACT layperson [] synonym: "Sweating, increased" EXACT layperson [] xref: MEDDRA:10020642 "Hyperhidrosis" xref: MSH:D006945 xref: MSH:D013546 xref: SNOMEDCT_US:161857006 xref: SNOMEDCT_US:312230002 xref: SNOMEDCT_US:364538006 xref: SNOMEDCT_US:415690000 xref: SNOMEDCT_US:415691001 xref: SNOMEDCT_US:52613005 xref: UMLS:C0020458 xref: UMLS:C0038990 xref: UMLS:C0700590 is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis [Term] id: HP:0000976 name: Eczematoid dermatitis xref: MSH:D004485 xref: SNOMEDCT_US:281104002 xref: SNOMEDCT_US:43116000 xref: UMLS:C0013595 is_a: HP:0000964 ! Eczema [Term] id: HP:0000977 name: Soft skin def: "Subjective impression of increased softness upon palpation of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Soft skin" EXACT layperson [] synonym: "Velvety skin" RELATED layperson [] synonym: "Velvety skin texture" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C0241178 xref: UMLS:C1844592 is_a: HP:0010647 ! Abnormal elasticity of skin [Term] id: HP:0000978 name: Bruising susceptibility alt_id: HP:0000959 alt_id: HP:0007433 alt_id: HP:0007472 def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [https://orcid.org/0000-0002-0736-9199] comment: An ecchymosis is defined as being larger than 1 cm in size. synonym: "Bruisability" EXACT [] synonym: "Bruise easily" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Bruising susceptibility" EXACT layperson [] synonym: "Easy bruisability" EXACT layperson [] synonym: "Easy bruising" EXACT layperson [] xref: MSH:D004438 xref: SNOMEDCT_US:302227002 xref: SNOMEDCT_US:424131007 xref: SNOMEDCT_US:425075004 xref: SNOMEDCT_US:77643000 xref: UMLS:C0013491 xref: UMLS:C0423798 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000979 name: Purpura def: "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [https://orcid.org/0000-0002-0736-9199, PMID:11515831] comment: Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). subset: hposlim_core synonym: "Blood spots" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Red or purple spots on the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D011693 xref: SNOMEDCT_US:12393003 xref: SNOMEDCT_US:387778001 xref: SNOMEDCT_US:423902002 xref: UMLS:C0034150 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000980 name: Pallor def: "Abnormally pale skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Paleness" RELATED layperson [] synonym: "Skin paleness" RELATED layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D010167 xref: SNOMEDCT_US:398979000 xref: UMLS:C0030232 is_a: HP:0011121 ! 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: "Palmar and plantar keratoderma" EXACT [] synonym: "Thickening of palms and soles" EXACT layperson [] xref: MSH:D007645 xref: SNOMEDCT_US:706885006 xref: UMLS:C0022596 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0000987 name: Atypical scarring of skin def: "Atypically scarred skin ." [https://orcid.org/0009-0006-4530-3154] synonym: "Atypical scarring" EXACT layperson [] synonym: "Atypical scarring of skin" EXACT layperson [] xref: UMLS:C4021786 is_a: HP:0011355 ! Localized skin lesion is_a: HP:0100699 ! Scarring [Term] id: HP:0000988 name: Skin rash def: "A red eruption of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Rash" BROAD layperson [] synonym: "Skin rash" EXACT layperson [] xref: MEDDRA:10037844 "Rash" xref: MSH:D005076 xref: SNOMEDCT_US:112625008 xref: SNOMEDCT_US:271807003 xref: UMLS:C0015230 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000989 name: Pruritus def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Itching" EXACT layperson [] synonym: "Itchy skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Skin itching" EXACT layperson [] xref: MSH:D011537 xref: SNOMEDCT_US:279333002 xref: SNOMEDCT_US:418290006 xref: SNOMEDCT_US:418363000 xref: SNOMEDCT_US:424492005 xref: UMLS:C0033774 is_a: HP:0011122 ! Abnormality of skin physiology [Term] id: HP:0000991 name: Xanthomatosis def: "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Xanthomata" EXACT [] synonym: "Yellow bumps of fatty deposits on skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D014973 xref: SNOMEDCT_US:63103006 xref: UMLS:C0043325 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000992 name: Cutaneous photosensitivity alt_id: HP:0005594 alt_id: HP:0006831 alt_id: HP:0007538 def: "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Photosensitive skin" EXACT layperson [] synonym: "Photosensitive skin rashes" EXACT layperson [] synonym: "Photosensitivity" EXACT layperson [] synonym: "Sensitivity to sunlight" EXACT layperson [] synonym: "Skin photosensitivity" EXACT layperson [] synonym: "Sun sensitivity" EXACT layperson [] xref: MSH:D010787 xref: SNOMEDCT_US:90128006 xref: UMLS:C0349506 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000993 name: Molluscoid pseudotumors def: "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [https://orcid.org/0000-0002-0736-9199] synonym: "Molluscoid pseudotumor" EXACT [] xref: UMLS:C1844597 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000995 name: Melanocytic nevus def: "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger." [https://orcid.org/0000-0002-0736-9199] comment: Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. synonym: "Beauty mark" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Melanocytic naevus" EXACT [] synonym: "Melanocytic nevi" EXACT [] synonym: "Nevocellular nevi" EXACT [] synonym: "Noncancerous mole" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pigmented naevi" EXACT [] synonym: "Pigmented nevi" EXACT [] xref: MSH:D009508 xref: SNOMEDCT_US:21119008 xref: SNOMEDCT_US:400096001 xref: UMLS:C0027962 xref: UMLS:C4280269 is_a: HP:0001000 ! Abnormality of skin pigmentation is_a: HP:0003764 ! Nevus [Term] id: HP:0000996 name: Facial capillary hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face." [] xref: UMLS:C1858545 is_a: HP:0000329 ! Facial hemangioma is_a: HP:0005306 ! Capillary hemangioma [Term] id: HP:0000997 name: Axillary freckling def: "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [PMID:12186179] subset: hposlim_core xref: UMLS:C1860335 is_a: HP:0001480 ! Freckling [Term] id: HP:0000998 name: Hypertrichosis def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive hair growth" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Increased hair growth on body" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D006983 xref: SNOMEDCT_US:271607001 xref: SNOMEDCT_US:29966009 xref: UMLS:C0020555 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0000999 name: Pyoderma def: "Any manifestation of a skin disease associated with the production of pus." [https://orcid.org/0000-0002-0736-9199] comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. synonym: "Pus-filled lesion" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D011711 xref: SNOMEDCT_US:70759006 xref: UMLS:C0034212 is_a: HP:0005406 ! Recurrent bacterial skin infections [Term] id: HP:0001000 name: Abnormality of skin pigmentation alt_id: HP:0007582 alt_id: HP:0200045 def: "An abnormality of the pigmentation of the skin." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal pigmentation" EXACT layperson [] synonym: "Abnormal skin color" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormal skin colour" EXACT uk_spelling [] synonym: "Abnormal skin pigmentation" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of pigmentation" EXACT layperson [] synonym: "Abnormality of skin pigmentation" EXACT layperson [] synonym: "Pigmentary changes" EXACT layperson [] synonym: "Pigmentary skin changes" EXACT layperson [] synonym: "Pigmentation anomaly" EXACT layperson [] xref: UMLS:C1260926 is_a: HP:0011121 ! 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: MSH:D008209 xref: SNOMEDCT_US:234097001 xref: SNOMEDCT_US:30213001 xref: UMLS:C0024236 xref: UMLS:C0240278 xref: UMLS:C1835229 is_a: HP:0000969 ! Edema [Term] id: HP:0001005 name: Dermatological manifestations of systemic disorders subset: secondary_consequence xref: UMLS:C4025812 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001006 name: obsolete Hypotrichosis is_obsolete: true replaced_by: HP:0008070 [Term] id: HP:0001007 name: Hirsutism def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [https://orcid.org/0009-0006-4530-3154] synonym: "Excessive hairiness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D006628 xref: SNOMEDCT_US:399939002 xref: UMLS:C0019572 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001008 name: Accumulation of melanosomes in melanocytes xref: UMLS:C1843389 is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0001009 name: Telangiectasia alt_id: HP:0001079 def: "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [https://orcid.org/0000-0002-0736-9199] synonym: "Spider veins" RELATED layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Telangiectases" EXACT [] xref: MSH:D013684 xref: SNOMEDCT_US:112641009 xref: SNOMEDCT_US:247479008 xref: UMLS:C0039446 xref: UMLS:C1138421 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001010 name: Hypopigmentation of the skin alt_id: HP:0005589 alt_id: HP:0007604 alt_id: HP:0007622 def: "A reduction of skin color related to a decrease in melanin production and deposition." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypopigmentation" EXACT [] synonym: "Hypopigmented skin" EXACT [] synonym: "Patchy lightened skin" EXACT layperson [] synonym: "Skin hypopigmentation" RELATED [] xref: MSH:D017496 xref: SNOMEDCT_US:18655006 xref: SNOMEDCT_US:201284005 xref: SNOMEDCT_US:23006000 xref: SNOMEDCT_US:89031001 xref: UMLS:C0162835 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001011 name: obsolete Diaphoresis (with pheochromocytoma) is_obsolete: true replaced_by: HP:0000975 [Term] id: HP:0001012 name: Multiple lipomas def: "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [https://orcid.org/0009-0006-4530-3154] comment: A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. synonym: "Lipomas" RELATED [] synonym: "Lipomatosis" RELATED [] synonym: "Multiple fatty lumps" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D008067 xref: NCIT:C3192 xref: SNOMEDCT_US:404062002 xref: SNOMEDCT_US:46720004 xref: SNOMEDCT_US:93163002 xref: UMLS:C0023798 xref: UMLS:C0745730 is_a: HP:0012031 ! Lipomatous tumor [Term] id: HP:0001013 name: Eruptive xanthomas def: "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur." [PMID:12165227, PMID:22375975] comment: Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. xref: SNOMEDCT_US:238952003 xref: UMLS:C0221252 is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001014 name: Angiokeratoma def: "Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot." [https://orcid.org/0000-0002-0736-9199, PMID:8993949] comment: Angiokeratomas occur clinically as 1 of 5 different subtypes. synonym: "Angiokeratomas" EXACT [] xref: MSH:D000794 xref: SNOMEDCT_US:26810009 xref: UMLS:C0002985 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001015 name: Prominent superficial veins def: "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal." [] comment: See Figure 4 of PMID:24456199 synonym: "Marked subcutaneous veins" EXACT [] synonym: "Prominent veins" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1837785 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:0007394 ! Prominent superficial blood vessels [Term] id: HP:0001017 name: Anemic pallor def: "A type of pallor that is secondary to the presence of anemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Anaemic pallor" EXACT uk_spelling [] xref: UMLS:C4025811 is_a: HP:0000980 ! Pallor [Term] id: HP:0001018 name: Abnormal palmar dermatoglyphics def: "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025810 is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0040211 ! Abnormal skin morphology of the palm [Term] id: HP:0001019 name: Erythroderma def: "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [https://orcid.org/0000-0002-0736-9199] synonym: "Exfoliative dermititis" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Generalised erythroderma" EXACT uk_spelling [] synonym: "Generalised erythrodermia" EXACT uk_spelling [] synonym: "Generalized erythroderma" EXACT [] synonym: "Generalized erythrodermia" EXACT [] synonym: "Red scaly skin caused by inflammatory skin disease" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D003873 xref: SNOMEDCT_US:200948000 xref: SNOMEDCT_US:396349005 xref: SNOMEDCT_US:396350005 xref: SNOMEDCT_US:399992009 xref: SNOMEDCT_US:400005007 xref: UMLS:C0011606 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001022 name: Albinism def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [https://orcid.org/0009-0006-4530-3154] synonym: "Achromasia" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Albinism" EXACT layperson [] xref: MSH:D000417 xref: SNOMEDCT_US:15890002 xref: SNOMEDCT_US:18064000 xref: UMLS:C0001916 xref: UMLS:C0333913 is_a: HP:0005599 ! Hypopigmentation of hair is_a: HP:0007513 ! Generalized hypopigmentation [Term] id: HP:0001024 name: Skin dimple over apex of long bone angulation xref: UMLS:C1855815 is_a: HP:0010781 ! Skin dimple [Term] id: HP:0001025 name: Urticaria def: "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hives" EXACT layperson [] xref: MEDDRA:10046735 "Urticaria" xref: MSH:D014581 xref: SNOMEDCT_US:126485001 xref: SNOMEDCT_US:247472004 xref: SNOMEDCT_US:64305001 xref: UMLS:C0042109 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001026 name: Penetrating foot ulcers synonym: "Penetrating foot ulcers" EXACT layperson [] xref: UMLS:C4025809 is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001027 name: Soft, doughy skin def: "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough." [] synonym: "Soft, doughy skin" EXACT layperson [] xref: UMLS:C1849043 is_a: HP:0000977 ! Soft skin [Term] id: HP:0001028 name: Hemangioma alt_id: HP:0007444 def: "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [https://orcid.org/0000-0002-0736-9199] synonym: "Hemangiomata" RELATED [] synonym: "Strawberry mark" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D006391 xref: NCIT:C3085 xref: SNOMEDCT_US:2099007 xref: SNOMEDCT_US:253053003 xref: SNOMEDCT_US:400210000 xref: UMLS:C0018916 is_a: HP:0100742 ! Vascular neoplasm [Term] id: HP:0001029 name: Poikiloderma def: "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias." [https://orcid.org/0000-0002-0736-9199, 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: MSH:D010241 xref: SNOMEDCT_US:200766001 xref: SNOMEDCT_US:65068000 xref: UMLS:C0030436 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0001038 name: Warfarin-induced skin necrosis subset: secondary_consequence xref: UMLS:C1867638 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001039 name: Atheroeruptive xanthoma xref: UMLS:C4025807 is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001040 name: Multiple pterygia xref: UMLS:C1867448 is_a: HP:0001059 ! Pterygium [Term] id: HP:0001041 name: Facial erythema alt_id: HP:0001068 def: "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin." [https://orcid.org/0000-0002-0736-9199] synonym: "Blushed cheeks" EXACT layperson [] synonym: "Blushing" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Red face" EXACT layperson [] synonym: "Red in the face" EXACT layperson [] synonym: "Rosacea" NARROW layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Ruddy face" RELATED layperson [] xref: MSH:D001821 xref: MSH:D012393 xref: SNOMEDCT_US:20255002 xref: SNOMEDCT_US:271811009 xref: SNOMEDCT_US:398909004 xref: UMLS:C0005874 xref: UMLS:C0035854 xref: UMLS:C0239488 xref: UMLS:C4020880 is_a: HP:0010783 ! Erythema [Term] id: HP:0001042 name: High axial triradius xref: UMLS:C4025806 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0001043 name: Prominent scalp veins synonym: "Prominent scalp veins" EXACT layperson [] xref: UMLS:C1856542 is_a: HP:0001015 ! Prominent superficial veins is_a: HP:0001965 ! Abnormal scalp morphology is_a: HP:3000036 ! Abnormal head blood vessel morphology [Term] id: HP:0001045 name: Vitiligo synonym: "Blotchy loss of skin color" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Blotchy loss of skin colour" EXACT uk_spelling [] xref: MSH:D014820 xref: SNOMEDCT_US:56727007 xref: UMLS:C0042900 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001046 name: Intermittent jaundice def: "Jaundice that is sometimes present, sometimes not." [https://orcid.org/0000-0002-0736-9199] subset: secondary_consequence synonym: "Intermittent icterus" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Intermittent yellow skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Intermittent yellowing of skin" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025805 is_a: HP:0000952 ! Jaundice [Term] id: HP:0001047 name: Atopic dermatitis alt_id: HP:0007533 alt_id: HP:0007564 def: "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage." [https://orcid.org/0000-0002-0736-9199, PMID:27904186] comment: In infants, atopic dermatitis is known as infantile eczema. synonym: "Atopic dermatitis, chronic" EXACT [] synonym: "Baby eczema" RELATED layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Dermatitis, Atopic" EXACT [] xref: MSH:D003876 xref: SNOMEDCT_US:200775004 xref: SNOMEDCT_US:24079001 xref: UMLS:C0011615 xref: UMLS:C4280605 is_a: HP:0000964 ! Eczema [Term] id: HP:0001048 name: Cavernous hemangioma def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Cavernous angioma" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Cavernous haemangioma" EXACT [] synonym: "Collection of dilated blood vessels that forms mass" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10055899 "Haemangioma cavernous" xref: MSH:D006392 xref: NCIT:C3086 xref: SNOMEDCT_US:33377007 xref: SNOMEDCT_US:416824008 xref: SNOMEDCT_US:56975005 xref: UMLS:C0018920 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001049 name: Absent dorsal skin creases over affected joints xref: UMLS:C1861400 is_a: HP:0006143 ! Abnormal finger flexion crease [Term] id: HP:0001050 name: Plethora comment: Related to polycythemia. xref: SNOMEDCT_US:75246004 xref: UMLS:C0232370 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001051 name: Seborrheic dermatitis alt_id: HP:0007562 def: "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [https://orcid.org/0000-0002-0736-9199] comment: Dandruff. synonym: "Dysseborrheic dermatitis" RELATED [] synonym: "Seborrhea" EXACT [] synonym: "Seborrheic eczema" EXACT [] xref: MSH:D012628 xref: SNOMEDCT_US:50563003 xref: SNOMEDCT_US:86708008 xref: UMLS:C0036508 xref: UMLS:C3806554 is_a: HP:0000964 ! Eczema [Term] id: HP:0001052 name: Nevus flammeus def: "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [https://orcid.org/0009-0006-4530-3154, PMID:22483320] comment: Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions. subset: hposlim_core synonym: "Nevus simplex" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "port-wine stain" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: MEDDRA:10067193 "Naevus flammeus" xref: MSH:D019339 xref: SNOMEDCT_US:254211001 xref: SNOMEDCT_US:416377005 xref: UMLS:C0235752 is_a: HP:0003764 ! Nevus is_a: HP:0025104 ! Capillary malformation [Term] id: HP:0001053 name: Hypopigmented skin patches synonym: "Patchy loss of skin color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Patchy loss of skin colour" EXACT uk_spelling [] xref: UMLS:C1836735 is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001054 name: Numerous nevi synonym: "Multiple pigmented nevi" EXACT [] synonym: "Numerous moles" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C1849677 is_a: HP:0003764 ! Nevus [Term] id: HP:0001055 name: Erysipelas def: "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "St. Anthony's Fire" RELATED [] xref: MEDDRA:10015145 "Erysipelas" xref: MSH:D004881 xref: MSH:D004886 xref: SNOMEDCT_US:44653001 xref: SNOMEDCT_US:51510002 xref: UMLS:C0014714 xref: UMLS:C0014733 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001056 name: Milia def: "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin." [https://orcid.org/0000-0002-0736-9199] comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. subset: hposlim_core synonym: "Milk spot" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Millium cyst" EXACT [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:254679001 xref: SNOMEDCT_US:254683001 xref: SNOMEDCT_US:37719003 xref: UMLS:C0345996 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001057 name: Aplasia cutis congenita def: "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absence of part of skin at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Congenital absence of skin" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432] synonym: "Congenital scars" BROAD [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432] synonym: "Cutis aplasia" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10002963 "Aplasia cutis congenita" xref: MSH:D004476 xref: SNOMEDCT_US:254237003 xref: SNOMEDCT_US:35484002 xref: SNOMEDCT_US:74223008 xref: UMLS:C0265989 xref: UMLS:C0282160 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0001058 name: Poor wound healing def: "A reduced ability to heal cutaneous wounds." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Poor wound healing" EXACT layperson [] xref: UMLS:C1851789 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001059 name: Pterygium def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Pterygia" RELATED [] xref: MSH:D011625 xref: SNOMEDCT_US:77489003 xref: UMLS:C0033999 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0011356 ! Regional abnormality of skin [Term] id: HP:0001060 name: Axillary pterygium def: "Presence of a cutaneous membrane (flap) in the armpit." [] synonym: "Axillary pterygia" EXACT plural_form [] xref: UMLS:C1844738 is_a: HP:0001059 ! Pterygium [Term] id: HP:0001061 name: Acne alt_id: HP:0005596 def: "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)." [https://orcid.org/0000-0002-0736-9199] comment: Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule. subset: hposlim_core synonym: "Acne" EXACT layperson [] synonym: "Breaking out" BROAD layperson [] xref: MEDDRA:10000496 "Acne" xref: SNOMEDCT_US:11381005 xref: UMLS:C0702166 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001062 name: Atypical nevus def: "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink." [https://orcid.org/0000-0002-0736-9199] comment: Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance. synonym: "Atypical mole" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Dysplastic Nevus" RELATED [] xref: MSH:D004416 xref: SNOMEDCT_US:254818000 xref: SNOMEDCT_US:61814002 xref: UMLS:C0205748 is_a: HP:0003764 ! Nevus [Term] id: HP:0001063 name: Acrocyanosis def: "Bluish discoloration of the skin of the hands or feet." [PMID:32644593] comment: Cyanosis is caused by increased levels of deoxygenated hemoglobin. synonym: "Persistent blue color of hands or feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Persistent blue colour of hands or feet" EXACT uk_spelling [] xref: SNOMEDCT_US:25003006 xref: UMLS:C0221347 is_a: HP:0034033 ! Peripheral cyanosis [Term] id: HP:0001065 name: Striae distensae alt_id: HP:0001023 alt_id: HP:0001066 alt_id: HP:0100680 def: "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Purplish striae" EXACT [] synonym: "Stretch marks" EXACT layperson [] synonym: "Striae" EXACT [] synonym: "Striae atrophicae" EXACT [] synonym: "Striae cutis distensae" EXACT [] xref: MEDDRA:10040925 "Skin striae" xref: MSH:D057896 xref: SNOMEDCT_US:201066002 xref: SNOMEDCT_US:201067006 xref: SNOMEDCT_US:47212006 xref: UMLS:C0152459 is_a: HP:0004334 ! Dermal atrophy is_a: HP:0100679 ! Lack of skin elasticity [Term] id: HP:0001067 name: Neurofibroma alt_id: HP:0006746 alt_id: HP:0007386 alt_id: HP:0007612 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: MSH:D017253 xref: NCIT:C3272 xref: SNOMEDCT_US:19133005 xref: SNOMEDCT_US:81669005 xref: UMLS:C0162678 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010614 ! Fibroma is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0001069 name: Episodic hyperhidrosis def: "Intermittent episodes of abnormally increased perspiration." [https://orcid.org/0000-0002-0736-9199] synonym: "Hyperhidrosis, episodic" EXACT [] synonym: "Sporadic excessive sweating" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1857171 is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0001070 name: Mottled pigmentation alt_id: HP:0007584 def: "Patchy and irregular skin pigmentation." [https://orcid.org/0000-0002-0736-9199] synonym: "Mottled skin coloring" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Mottled skin colouring" EXACT uk_spelling [] synonym: "Stippled pigmentation" RELATED [] xref: UMLS:C0860439 xref: UMLS:C4020879 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum def: "Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation." [] comment: Angiokeratoma corporis diffusum (ACD) commonly occurs in Fabry disease and the term ACD was previously used synonymously with Fabry disease (OMIM:301500). However, ACD can also occur with other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis, and Kanzaki disease. synonym: "Fabry syndrome" EXACT [https://orcid.org/0000-0001-6908-9849] xref: MSH:D000795 xref: SNOMEDCT_US:124464003 xref: SNOMEDCT_US:16652001 xref: UMLS:C0002986 is_a: HP:0001014 ! Angiokeratoma [Term] id: HP:0001072 name: Thickened skin alt_id: HP:0007393 def: "Laminar thickening of skin." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Diffusely thickened skin" RELATED layperson [] synonym: "Pachydermia" EXACT [] synonym: "Thick skin" EXACT layperson [] synonym: "Thickened skin" EXACT layperson [] xref: MEDDRA:10040936 "Skin thickening" xref: SNOMEDCT_US:17417006 xref: SNOMEDCT_US:69943009 xref: UMLS:C0334008 xref: UMLS:C4020878 is_a: HP:0011121 ! 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: MSH:D001660 xref: SNOMEDCT_US:105997008 xref: UMLS:C0005424 xref: UMLS:C0549613 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001081 name: Cholelithiasis def: "Hard, pebble-like deposits that form within the gallbladder." [https://orcid.org/0000-0002-0736-9199] comment: Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones. synonym: "Gallstones" EXACT layperson [] xref: MSH:D002769 xref: SNOMEDCT_US:266474003 xref: UMLS:C0008350 is_a: HP:0012437 ! Abnormal gallbladder morphology [Term] id: HP:0001082 name: Cholecystitis def: "The presence of inflammatory changes in the gallbladder." [https://orcid.org/0000-0002-0736-9199] synonym: "Gallbladder inflammation" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D002764 xref: SNOMEDCT_US:76581006 xref: UMLS:C0008325 is_a: HP:0012438 ! Abnormal gallbladder physiology [Term] id: HP:0001083 name: Ectopia lentis alt_id: HP:0000665 alt_id: HP:0007637 alt_id: HP:0007882 alt_id: HP:0008016 def: "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of lens position" EXACT [] synonym: "Lens dislocation" EXACT [] xref: MSH:D004479 xref: MSH:D007906 xref: SNOMEDCT_US:74969002 xref: UMLS:C0013581 xref: UMLS:C0023309 is_a: HP:0000517 ! Abnormal lens morphology [Term] id: HP:0001084 name: Corneal arcus alt_id: HP:0100741 def: "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [https://orcid.org/0000-0002-0736-9199] comment: A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. synonym: "Anterior embryotoxon" EXACT [] synonym: "Arcus juvenilis" RELATED [] synonym: "Arcus lipoidis" EXACT [] synonym: "Arcus senilis" EXACT [] synonym: "Corneal annulus" EXACT [] synonym: "Gerontoxon" EXACT [] xref: MSH:D001112 xref: SNOMEDCT_US:111522004 xref: SNOMEDCT_US:231924000 xref: SNOMEDCT_US:231925004 xref: UMLS:C0003742 xref: UMLS:C0339268 is_a: HP:0008011 ! Peripheral opacification of the cornea [Term] id: HP:0001085 name: Papilledema alt_id: HP:0001130 def: "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [https://orcid.org/0000-0002-0736-9199] comment: The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc. subset: hposlim_core synonym: "Papillitis" RELATED [] xref: MSH:D010211 xref: SNOMEDCT_US:248487006 xref: SNOMEDCT_US:423341008 xref: SNOMEDCT_US:73221001 xref: UMLS:C0030353 is_a: HP:0012795 ! Abnormal optic disc morphology [Term] id: HP:0001087 name: Developmental glaucoma def: "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma." [] synonym: "Childhood glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Infantile glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Paediatric glaucoma" EXACT uk_spelling [] synonym: "Pediatric glaucoma" EXACT [https://orcid.org/0000-0001-6908-9849] xref: MSH:D006871 xref: SNOMEDCT_US:204113001 xref: SNOMEDCT_US:413728006 xref: UMLS:C0020302 is_a: HP:0000501 ! Glaucoma is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0001088 name: Brushfield spots def: "The presence of whitish spots in a ring-like arrangement at the periphery of the iris." [https://orcid.org/0000-0002-0736-9199] comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). subset: hposlim_core synonym: "Iris brushfield spots" EXACT [] synonym: "Speckled iris" RELATED layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:400960002 xref: UMLS:C1303007 xref: UMLS:C4280604 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001089 name: Iris atrophy def: "Loss of iris tissue (atrophy)" [https://orcid.org/0000-0002-0736-9199] synonym: "Iris degeneration" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95709007 xref: UMLS:C0423319 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0001090 name: Abnormally large globe alt_id: HP:0200093 def: "Diffusely large eye (with megalocornea) without glaucoma." [https://orcid.org/0000-0002-0736-9199] comment: Note that Increased size of palpebral fissues is not a synonym of this term. synonym: "Increased size of eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of palpebral fissures" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Large eyeballs" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large eyes" EXACT layperson [] synonym: "Large of palpebral fissures" RELATED [https://orcid.org/0000-0001-5889-4463] synonym: "Megalophthalmos" EXACT [] xref: SNOMEDCT_US:246920008 xref: UMLS:C0423221 xref: UMLS:C1855852 xref: UMLS:C4280603 is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0001092 name: Absent lacrimal punctum alt_id: HP:0007977 def: "No identifiable superior and/or inferior lacrimal punctum." [PMID:19125427] comment: The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. subset: hposlim_core synonym: "Absent lacrimal gland puncta" EXACT [] synonym: "Absent lacrimal openings" EXACT [] synonym: "Absent lacrimal puncta" EXACT [] synonym: "Agenesis of the lacrimal punctum" RELATED [] synonym: "Aplasia of lacrimal puncta" EXACT [] synonym: "Lacrimal puncta aplasia" EXACT [] synonym: "Lacrimal punctum, absence" EXACT [] xref: MSH:C566703 xref: SNOMEDCT_US:204208005 xref: SNOMEDCT_US:253217007 xref: UMLS:C0344509 xref: UMLS:C1867060 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology [Term] id: HP:0001093 name: Optic nerve dysplasia def: "The presence of developmental dysplasia of the optic nerve." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C2676026 is_a: HP:0000587 ! Abnormal optic nerve morphology [Term] id: HP:0001094 name: Iridocyclitis def: "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D015863 xref: SNOMEDCT_US:77971008 xref: UMLS:C0022073 is_a: HP:0012122 ! Anterior uveitis [Term] id: HP:0001095 name: Hypertensive retinopathy subset: secondary_consequence xref: MSH:D058437 xref: SNOMEDCT_US:6962006 xref: UMLS:C0152132 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0001096 name: Keratoconjunctivitis def: "Inflammation of the cornea and conjunctiva." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MSH:D007637 xref: SNOMEDCT_US:88151007 xref: UMLS:C0022573 is_a: HP:0000491 ! Keratitis is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0001097 name: Keratoconjunctivitis sicca def: "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Dry eye syndrome" RELATED layperson [] synonym: "Dry eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Keratitis sicca" EXACT [] synonym: "Xerophthalmia" EXACT [] xref: MSH:C531719 xref: MSH:D007638 xref: MSH:D014985 xref: MSH:D015352 xref: SNOMEDCT_US:302896008 xref: SNOMEDCT_US:363677007 xref: SNOMEDCT_US:46152009 xref: UMLS:C0013238 xref: UMLS:C0022575 xref: UMLS:C0043349 xref: UMLS:C2930821 is_a: HP:0001096 ! Keratoconjunctivitis [Term] id: HP:0001098 name: Abnormal fundus morphology def: "Any structural abnormality of the fundus of the eye." [] synonym: "Abnormality of the fundus" EXACT [] xref: UMLS:C4025804 is_a: HP:0004329 ! Abnormal posterior eye segment morphology [Term] id: HP:0001099 name: Fundus atrophy xref: UMLS:C2673929 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0001100 name: Heterochromia iridis def: "Heterochromia iridis is a difference in the color of the iris in the two eyes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Different colored eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Different coloured eyes" EXACT uk_spelling [] synonym: "Heterochromia irides" EXACT [] xref: MSH:C538115 xref: SNOMEDCT_US:247033008 xref: UMLS:C0423318 is_a: HP:0200064 ! Asymmetry of iris pigmentation [Term] id: HP:0001101 name: Iritis def: "Inflammation of the iris." [https://orcid.org/0000-0002-0736-9199] synonym: "Inflammation of iris" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D007500 xref: SNOMEDCT_US:65074000 xref: UMLS:C0022081 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0001102 name: Angioid streaks of the fundus def: "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:30844178] comment: Angioid streaks result from breaks in a weakened Bruch's membrane. synonym: "Angioid streaks" EXACT [] synonym: "Angioid streaks of the retina" EXACT [] synonym: "Angioid streaks, retina" EXACT [] synonym: "Knapp streaks" EXACT [] synonym: "Laquer cracks of the retina" EXACT [] xref: MSH:D000793 xref: UMLS:C0002982 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0001103 name: Abnormal macular morphology def: "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina." [https://orcid.org/0000-0002-0736-9199, PMID:16255686] comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. subset: hposlim_core synonym: "Abnormality of the macula" EXACT [] synonym: "Macula abnormality" EXACT [] synonym: "Macular abnormality" EXACT [] xref: SNOMEDCT_US:312999006 xref: UMLS:C0730362 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0001104 name: Macular hypoplasia def: "Underdevelopment of the macula lutea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1849412 is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula [Term] id: HP:0001105 name: Retinal atrophy def: "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [https://orcid.org/0000-0003-0986-4123] xref: MSH:D012162 xref: SNOMEDCT_US:405722004 xref: SNOMEDCT_US:95695004 xref: UMLS:C0035304 xref: UMLS:C0521694 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0001106 name: Periorbital hyperpigmentation def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [https://orcid.org/0000-0002-0736-9199] synonym: "Dark circles around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dark circles under the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Darkening around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Idiopathic cutaneous hyperchromia at the orbital region" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Infraorbital pigmentation" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Periorbital melanosis" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Pigmentation around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1844606 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001107 name: Ocular albinism alt_id: HP:0007745 alt_id: HP:0007837 def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina." [https://orcid.org/0000-0002-0736-9199] comment: Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. synonym: "Absent pigmentation in the eye" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Albinism, Ocular" EXACT [] xref: MSH:D016117 xref: SNOMEDCT_US:26399002 xref: UMLS:C0078917 is_a: HP:0001098 ! Abnormal fundus morphology is_a: HP:0007730 ! Iris hypopigmentation [Term] id: HP:0001112 name: Leber optic atrophy alt_id: HP:0001086 def: "Degeneration of retinal ganglion cells and their axons." [https://orcid.org/0000-0002-0736-9199] synonym: "Leber optic atrophy features" EXACT [] synonym: "Leber optic degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MSH:D029242 xref: SNOMEDCT_US:58610003 xref: UMLS:C0917796 is_a: HP:0000587 ! Abnormal optic nerve morphology [Term] id: HP:0001113 name: obsolete Early cataracts is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0001114 name: Xanthelasma def: "The presence of xanthomata in the skin of the eyelid." [https://orcid.org/0000-0002-0736-9199] synonym: "Fatty deposits in skin around the eyes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fatty deposits on eyelids" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthelasma of eyelid" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthelasma of periocular region" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthelasma palpebrarum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthoma" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthoma of eyelid" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Xanthoma of periocular region" NARROW [https://orcid.org/0000-0001-5889-4463] xref: MSH:D014973 xref: SNOMEDCT_US:63103006 xref: SNOMEDCT_US:6400008 xref: SNOMEDCT_US:75594004 xref: UMLS:C0155210 xref: UMLS:C0302314 xref: UMLS:C4280601 xref: UMLS:C4280602 is_a: HP:0000991 ! Xanthomatosis is_a: HP:0010732 ! Nodular changes affecting the eyelids [Term] id: HP:0001115 name: Posterior polar cataract def: "A polar cataract that affects the posterior pole of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Polar cataract, posterior" EXACT [] xref: UMLS:C1850191 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001116 name: Macular coloboma def: "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented." [https://orcid.org/0000-0001-8727-6592, PMID:15069441] synonym: "Coloboma of the macula" EXACT [] xref: MSH:C535968 xref: UMLS:C1852767 is_a: HP:0000480 ! Retinal coloboma is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0001117 name: Sudden loss of visual acuity def: "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy." [https://orcid.org/0000-0002-0736-9199] synonym: "Sudden central visual loss" RELATED [] synonym: "Sudden decrease in vision" BROAD layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025803 xref: UMLS:C4072828 xref: UMLS:C4280600 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0001118 name: Juvenile cataract def: "A type of cataract that is not apparent at birth but that arises in childhood or adolescence." [https://orcid.org/0000-0002-0736-9199] comment: Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral). xref: SNOMEDCT_US:399336001 xref: UMLS:C0302254 is_a: HP:0000518 ! Cataract [Term] id: HP:0001119 name: Keratoglobus def: "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [PMID:19667340] subset: hposlim_core xref: UMLS:C3887531 is_a: HP:0007700 ! Ocular anterior segment dysgenesis is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0001120 name: Abnormality of corneal size def: "Any abnormality of the size or morphology of the cornea." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025802 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0001122 name: obsolete Aplasia/Hypoplasia of the choroid is_obsolete: true consider: HP:0000610 [Term] id: HP:0001123 name: Visual field defect synonym: "Partial loss of field of vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Visual field defects" EXACT [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:12184005 xref: UMLS:C3887875 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0001125 name: Transient unilateral blurring of vision alt_id: HP:0000583 def: "Transient blurring of vision associated with the aura phase of migraine." [https://orcid.org/0000-0002-0736-9199] comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. synonym: "Hemianopic blurring" RELATED [] synonym: "Hemianoptic blurring of vision" EXACT [] synonym: "Transient unilateral blurred vision" EXACT [] xref: UMLS:C1865332 is_a: HP:0000622 ! Blurred vision [Term] id: HP:0001126 name: Cryptophthalmos alt_id: HP:0008032 def: "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [https://orcid.org/0000-0002-0736-9199, PMID:19125427] comment: Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin. subset: hposlim_core xref: SNOMEDCT_US:400951005 xref: UMLS:C0311249 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid [Term] id: HP:0001128 name: Trichiasis def: "Inversion and rubbing of the eyelashes against the globe of the eye." [https://orcid.org/0000-0002-0736-9199] comment: Eyelash inversion. synonym: "Ingrown eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Introversion of eyelashes" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Trichiasis of eyelid eyelashes" EXACT [] xref: MSH:D058457 xref: SNOMEDCT_US:60332004 xref: UMLS:C0221259 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0001129 name: Large central visual field defect synonym: "Large central loss of field of vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4025800 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001131 name: Corneal dystrophy alt_id: HP:0007775 alt_id: HP:0008005 def: "The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: SNOMEDCT_US:5587004 xref: UMLS:C0010036 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0001132 name: Lens subluxation def: "Partial dislocation of the lens of the eye." [https://orcid.org/0000-0002-0736-9199] comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). synonym: "Partially dislocated lens" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D007906 xref: SNOMEDCT_US:65814009 xref: UMLS:C0023316 is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0001133 name: Constriction of peripheral visual field alt_id: HP:0007887 alt_id: HP:0007981 def: "An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye." [https://orcid.org/0000-0003-0986-4123] synonym: "Concentric narrowing of visual field" EXACT [] synonym: "Constricted visual field" EXACT [] synonym: "Constricted visual fields" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Limited peripheral vision" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Reduced peripheral vision" EXACT [] synonym: "Visual field constriction" EXACT [] xref: SNOMEDCT_US:1151008 xref: SNOMEDCT_US:267628004 xref: UMLS:C0235095 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001134 name: Anterior polar cataract def: "A polar cataract that affects the anterior pole of the lens." [https://orcid.org/0000-0002-0736-9199] synonym: "Polar cataract, anterior" EXACT [] xref: MSH:C538282 xref: UMLS:C1855179 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001135 name: Chorioretinal dystrophy alt_id: HP:0007712 alt_id: HP:0007920 xref: UMLS:C1857627 is_a: HP:0000532 ! Abnormal chorioretinal morphology is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0001136 name: Retinal arteriolar tortuosity def: "The presence of an increased number of twists and turns of the retinal arterioles." [https://orcid.org/0000-0002-0736-9199] synonym: "Tortuous retinal arterioles" EXACT [] xref: UMLS:C1843517 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0001137 name: Alternating esotropia def: "Esotropia in which either eye may be used for fixation." [https://orcid.org/0000-0003-0986-4123] comment: Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time). synonym: "Alternating cross eyes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:39837002 xref: UMLS:C0152205 is_a: HP:0000565 ! Esotropia [Term] id: HP:0001138 name: Optic neuropathy alt_id: HP:0007806 synonym: "Damaged optic nerve" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:82108004 xref: UMLS:C3887709 is_a: HP:0000587 ! Abnormal optic nerve morphology [Term] id: HP:0001139 name: Choroideremia xref: MSH:D015794 xref: SNOMEDCT_US:75241009 xref: UMLS:C0008525 is_a: HP:0000610 ! Abnormal choroid morphology [Term] id: HP:0001140 name: Limbal dermoid def: "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Benign eye tumor" BROAD layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Benign eye tumour" BROAD uk_spelling [] synonym: "Epibulbar dermoid" EXACT [] synonym: "Epibulbar dermoids" EXACT plural_form [] xref: SNOMEDCT_US:5131000119107 xref: SNOMEDCT_US:92097004 xref: UMLS:C0496897 xref: UMLS:C1867616 is_a: HP:0000481 ! Abnormal cornea morphology is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0001141 name: Severely reduced visual acuity alt_id: HP:0007640 alt_id: HP:0007842 alt_id: HP:0007951 alt_id: HP:0008023 def: "Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation)." [PMID:28779882] synonym: "Marked vision impairment" EXACT layperson [] synonym: "Severe reduction in visual acuity" EXACT [] synonym: "Severe vision loss" EXACT [] synonym: "Severe visual impairment" EXACT layperson [] synonym: "Severe visual loss" EXACT [] synonym: "Severely impaired vision" EXACT layperson [] xref: SNOMEDCT_US:397541004 xref: UMLS:C1301509 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0001142 name: Lenticonus def: "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly." [HPO_CONTRIBUTOR:DDD_ncarter] comment: A conical projection of the anterior or posterior surface of the lens. subset: hposlim_core xref: SNOMEDCT_US:253221000 xref: UMLS:C0239119 is_a: HP:0011526 ! Abnormality of lens shape [Term] id: HP:0001144 name: Orbital cyst def: "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [https://orcid.org/0000-0002-0736-9199] synonym: "Cyst of eye socket" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Orbital cysts" EXACT [] xref: SNOMEDCT_US:31021007 xref: UMLS:C0155285 is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0001145 name: obsolete Chorioretinopathy is_obsolete: true consider: HP:0000532 [Term] id: HP:0001146 name: obsolete Pigmentary retinal degeneration is_obsolete: true replaced_by: HP:0000580 [Term] id: HP:0001147 name: Retinal exudate def: "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina." [https://orcid.org/0000-0002-0736-9199] comment: Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema. synonym: "Retinal exudates" EXACT [] xref: SNOMEDCT_US:39832008 xref: UMLS:C0240897 is_a: HP:0030506 ! Yellow/white lesions of the retina [Term] id: HP:0001149 name: Lattice corneal dystrophy def: "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [https://orcid.org/0000-0002-0736-9199] synonym: "Biber haab dimmer dystrophy" EXACT [https://orcid.org/0000-0001-6908-9849] xref: MSH:D028227 xref: SNOMEDCT_US:1192004 xref: SNOMEDCT_US:361199007 xref: UMLS:C0155127 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0001150 name: obsolete Choroidal sclerosis is_obsolete: true consider: HP:0000532 [Term] id: HP:0001151 name: Impaired horizontal smooth pursuit def: "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal horizontal ocular pursuit" EXACT [] synonym: "Impaired horizontal visual pursuit" EXACT [] xref: UMLS:C1866753 is_a: HP:0007772 ! Impaired smooth pursuit [Term] id: HP:0001152 name: Saccadic smooth pursuit alt_id: HP:0000530 def: "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements." [https://orcid.org/0000-0002-0736-9199] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. synonym: "Saccadic pursuit movements" EXACT [] synonym: "Saccadic slow pursuit" EXACT [] xref: UMLS:C1836479 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0001153 name: Septate vagina def: "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [https://orcid.org/0000-0002-0736-9199] synonym: "Double vagina" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:47054003 xref: UMLS:C0266411 is_a: HP:0000142 ! Abnormal vagina morphology [Term] id: HP:0001155 name: Abnormality of the hand alt_id: HP:0005858 def: "An abnormality affecting one or both hands." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal hands" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the hand" EXACT layperson [] synonym: "Hand anomalies" EXACT layperson [] synonym: "Hand deformities" EXACT layperson [] xref: MSH:D006226 xref: SNOMEDCT_US:299033004 xref: UMLS:C0018564 is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0001156 name: Brachydactyly alt_id: HP:0001189 alt_id: HP:0001201 alt_id: HP:0005630 alt_id: HP:0005657 alt_id: HP:0005727 alt_id: HP:0006017 alt_id: HP:0006128 alt_id: HP:0100667 def: "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachydactyly syndrome" EXACT [] synonym: "Short fingers or toes" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D059327 xref: SNOMEDCT_US:43476002 xref: UMLS:C0221357 is_a: HP:0011927 ! Short digit [Term] id: HP:0001159 name: Syndactyly alt_id: HP:0001206 alt_id: HP:0001236 def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\"." [https://orcid.org/0000-0002-0736-9199] comment: Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. synonym: "Webbed fingers or toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4174 xref: MSH:D013576 xref: SNOMEDCT_US:373413006 xref: UMLS:C0039075 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001161 name: Hand polydactyly def: "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Extra finger" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Finger polydactyly" EXACT [] synonym: "Polydactyly of the hand" EXACT [] synonym: "Supernumerary finger" EXACT [https://orcid.org/0000-0001-6908-9849] xref: MEDDRA:10036064 "Polydactyly of fingers" xref: SNOMEDCT_US:81793007 xref: UMLS:C0158733 is_a: HP:0009997 ! Duplication of phalanx of hand is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001162 name: Postaxial hand polydactyly alt_id: HP:0004698 alt_id: HP:0005763 alt_id: HP:0009984 def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Extra little finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Extra pinkie finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Extra pinky finger" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Polydactyly affecting the 5th finger" EXACT [] synonym: "Postaxial polydactyly of fingers" EXACT [] synonym: "Postaxial polydactyly of hand" EXACT [] synonym: "Postaxial polydactyly of hands" EXACT [] xref: SNOMEDCT_US:205131007 xref: UMLS:C0431904 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001163 name: Abnormality of the metacarpal bones is_obsolete: true replaced_by: HP:0005916 [Term] id: HP:0001166 name: Arachnodactyly alt_id: HP:0001505 def: "Abnormally long and slender fingers (\"spider fingers\")." [https://orcid.org/0000-0002-0736-9199] synonym: "Long slender fingers" EXACT layperson [] synonym: "Long, slender fingers" EXACT [] synonym: "Spider fingers" EXACT layperson [] xref: MSH:D054119 xref: SNOMEDCT_US:62250003 xref: UMLS:C0003706 is_a: HP:0001238 ! Slender finger is_a: HP:0100807 ! Long fingers [Term] id: HP:0001167 name: Abnormal finger morphology alt_id: HP:0003035 def: "An anomaly of a finger." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormalities of the fingers" EXACT layperson [] synonym: "Abnormality of finger" EXACT layperson [] xref: UMLS:C2674737 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001169 name: Broad palm alt_id: HP:0001174 def: "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). synonym: "Broad hand" EXACT layperson [] synonym: "Broad hands" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Broad palm" EXACT layperson [] synonym: "Wide palm" EXACT layperson [] xref: SNOMEDCT_US:48251003 xref: UMLS:C0264142 is_a: HP:0100871 ! Abnormal palm morphology [Term] id: HP:0001171 name: Split hand alt_id: HP:0001247 alt_id: HP:0003050 def: "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands." [https://orcid.org/0009-0006-4530-3154] synonym: "Ectrodactyly of the hand" EXACT [] synonym: "Hand ectrodactyly" EXACT [] synonym: "Split hand" EXACT layperson [] synonym: "Split-hand" EXACT layperson [] xref: SNOMEDCT_US:299034005 xref: UMLS:C0221373 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001172 name: Abnormal thumb morphology def: "An abnormal structure of the first digit of the hand." [] synonym: "Abnormality of the thumb" EXACT layperson [] synonym: "Abnormality of the thumbs" EXACT layperson [] synonym: "Thumb deformity" EXACT layperson [] xref: MSH:C536903 xref: SNOMEDCT_US:299130003 xref: UMLS:C0575897 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001176 name: Large hands alt_id: HP:0002820 alt_id: HP:0006044 alt_id: HP:0006219 synonym: "Disproportionately large hands" EXACT [] synonym: "large hand" EXACT layperson [] synonym: "Large hands" EXACT layperson [] xref: SNOMEDCT_US:249752003 xref: UMLS:C0426870 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001177 name: Preaxial hand polydactyly alt_id: HP:0005629 alt_id: HP:0005634 alt_id: HP:0006182 alt_id: HP:0009604 def: "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [https://orcid.org/0000-0002-0736-9199] synonym: "Extra thumb" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Polydactyly affecting the thumb" EXACT [] synonym: "Preaxial polydactyly of hands" EXACT [] synonym: "Supernumerary thumb" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "thumb polydactyly" EXACT [] xref: MSH:C536332 xref: SNOMEDCT_US:205135003 xref: SNOMEDCT_US:445216006 xref: UMLS:C1395852 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001178 name: Ulnar claw def: "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm." [https://orcid.org/0000-0002-0736-9199] comment: An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand. xref: UMLS:C4025799 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001180 name: Hand oligodactyly def: "A developmental defect resulting in the presence of fewer than the normal number of fingers." [https://orcid.org/0000-0002-0736-9199] synonym: "Hand has less than 5 fingers" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:71358006 xref: UMLS:C0728895 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001181 name: Adducted thumb alt_id: HP:0005646 def: "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [https://orcid.org/0000-0002-6670-9157, PMID:16235349, PMID:19125433] comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. synonym: "Adducted thumbs" EXACT [] synonym: "Inward turned thumb" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Thumb-in-palm deformity" EXACT [] synonym: "Thumb-in-palm pattern" EXACT [] xref: UMLS:C3554617 is_a: HP:0001172 ! Abnormal thumb morphology [Term] id: HP:0001182 name: Tapered finger alt_id: HP:0005795 alt_id: HP:0005800 alt_id: HP:0006032 alt_id: HP:0006080 alt_id: HP:0006098 alt_id: HP:0006111 alt_id: HP:0006125 alt_id: HP:0006244 alt_id: HP:0007532 def: "The gradual reduction in girth of the finger from proximal to distal." [PMID:19125433] subset: hposlim_core synonym: "Distally tapering fingers" EXACT [] synonym: "Tapered finger" EXACT layperson [] synonym: "Tapered fingers" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Tapered fingertips" EXACT layperson [] synonym: "Tapering fingers" EXACT layperson [] xref: SNOMEDCT_US:249768009 xref: UMLS:C0426886 is_a: HP:0100807 ! Long fingers [Term] id: HP:0001187 name: Hyperextensibility of the finger joints alt_id: HP:0006158 def: "The ability of the finger joints to move beyond their normal range of motion." [https://orcid.org/0000-0002-0736-9199] synonym: "Finger joint hyperextensibility" EXACT layperson [] synonym: "Hyperextensible digits" EXACT layperson [] synonym: "Hyperextensible finger" EXACT layperson [] synonym: "Hyperextensible fingers" RELATED layperson [] xref: UMLS:C1844577 is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0001188 name: Hand clenching def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted." [https://orcid.org/0009-0006-4530-3154, PMID:10085502, PMID:16702456] comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. subset: hposlim_core synonym: "Clenched hand" EXACT [] synonym: "Clenched hands" EXACT layperson [] synonym: "Hand clenching" EXACT layperson [] xref: UMLS:C0239815 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001191 name: Abnormal carpal morphology def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormal carpal bones" EXACT [] synonym: "Abnormal wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the carpal bones" EXACT [] synonym: "Anomalous carpal bones" EXACT [] synonym: "Carpal bone anomalies" EXACT [] xref: UMLS:C1840535 is_a: HP:0003019 ! Abnormality of the wrist is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001193 name: Ulnar deviation of the hand or of fingers of the hand xref: UMLS:C4048199 is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0001194 name: Abnormalities of placenta or umbilical cord def: "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormalities of placenta or umbilical cord" EXACT layperson [] xref: UMLS:C4025798 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001195 name: Single umbilical artery def: "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [https://orcid.org/0000-0002-0736-9199] comment: The umbilical cord normally has two arteries and one vein. synonym: "2 vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "2 vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Only one artery in umbilical cord instead of two" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Two vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Two vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Two-vessel cord" EXACT [] xref: MSH:D058529 xref: SNOMEDCT_US:204470001 xref: UMLS:C1384670 is_a: HP:0010948 ! Abnormal fetal cardiovascular morphology is_a: HP:0011403 ! Abnormal umbilical cord blood vessel morphology is_a: HP:0011425 ! Fetal ultrasound soft marker [Term] id: HP:0001196 name: Short umbilical cord def: "Decreased length of the umbilical cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Short umbilical cord" EXACT layperson [] xref: SNOMEDCT_US:59795007 xref: UMLS:C0266786 is_a: HP:0010881 ! Abnormality of the umbilical cord [Term] id: HP:0001197 name: Abnormality of prenatal development or birth def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [https://orcid.org/0000-0002-0736-9199] comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. synonym: "Abnormality of prenatal development or birth" EXACT layperson [] xref: UMLS:C4025797 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001199 name: Triphalangeal thumb alt_id: HP:0005846 alt_id: HP:0006194 alt_id: HP:0009610 alt_id: HP:0009619 def: "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb. subset: hposlim_core synonym: "Accessory phalanx of the thumb" EXACT [] synonym: "Digitalized thumb" EXACT [] synonym: "Finger-like thumb" EXACT layperson [] synonym: "Triphalangeal thumbs" EXACT [] synonym: "Triphalangy of thumb" EXACT [] xref: MSH:C573898 xref: SNOMEDCT_US:205308004 xref: UMLS:C0241397 is_a: HP:0009602 ! Abnormality of thumb phalanx [Term] id: HP:0001204 name: Distal symphalangism of hands alt_id: HP:0006079 alt_id: HP:0006116 alt_id: HP:0009841 alt_id: HP:0009871 def: "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [https://orcid.org/0009-0006-4530-3154] synonym: "Fused outermost bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT [] synonym: "Synostosis of distal phalanges" EXACT [] synonym: "Terminal symphalangism" EXACT [] xref: UMLS:C1862158 is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001211 name: Abnormal fingertip morphology def: "An abnormal structure of the tip (end) of a finger." [] synonym: "Abnormality of the fingertips" EXACT layperson [] xref: UMLS:C4025796 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001212 name: Prominent fingertip pads alt_id: HP:0001235 def: "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Persistence of fingerpads" EXACT [] synonym: "Persistent fetal fingertip pads" EXACT [] synonym: "Persistent foetal fingertip pads" EXACT uk_spelling [] synonym: "Prominent finger pads" EXACT layperson [] synonym: "Prominent fingertip pads" EXACT layperson [] xref: UMLS:C1835807 is_a: HP:0001211 ! Abnormal fingertip morphology is_a: HP:0011298 ! Prominent digit pad [Term] id: HP:0001215 name: Camptodactyly of 2nd-5th fingers def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859368 is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0001216 name: Delayed ossification of carpal bones alt_id: HP:0006069 def: "Ossification of carpal bones occurs later than age-adjusted norms." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Carpal delayed ossification" EXACT [] synonym: "Delayed carpal bone age" EXACT [] synonym: "Delayed carpal ossification" EXACT [] synonym: "Delayed maturation of carpal bones" EXACT [] synonym: "Delayed maturation of wrist bone" RELATED layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1841684 xref: UMLS:C4280599 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0001217 name: Clubbing alt_id: HP:0003036 alt_id: HP:0005874 def: "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [https://orcid.org/0009-0006-4530-3154, PMID:19125433] comment: Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). synonym: "Clubbing of fingers and toes" EXACT layperson [] synonym: "Digital clubbing" EXACT [] xref: SNOMEDCT_US:367004 xref: UMLS:C0149651 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001218 name: Autoamputation def: "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:0003019 ! Abnormality of the wrist [Term] id: HP:0001226 name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits is_obsolete: true replaced_by: HP:0006121 [Term] id: HP:0001227 name: Abnormality of the thenar eminence def: "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb." [https://orcid.org/0000-0002-0736-9199] synonym: "Thenar abnormality" EXACT [] xref: UMLS:C4021783 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0001230 name: Broad metacarpals alt_id: HP:0006024 alt_id: HP:0006065 def: "Abnormally broad metacarpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Wide long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide metacarpals" EXACT [] xref: UMLS:C1842229 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0001231 name: Abnormal fingernail morphology def: "An abnormality of the fingernails." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal fingernails" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Abnormality of the fingernails" EXACT layperson [] xref: UMLS:C4021782 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001232 name: Nail bed telangiectasia def: "Telangiectases in the area of the nails." [https://orcid.org/0000-0002-0736-9199] synonym: "Nail bed telangiectases" EXACT [] xref: UMLS:C1838167 is_a: HP:0001009 ! Telangiectasia is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001233 name: 2-3 finger syndactyly alt_id: HP:0006039 alt_id: HP:0006122 def: "Syndactyly with fusion of fingers two and three." [https://orcid.org/0009-0006-4530-3154] synonym: "Syndactyly 2nd-3rd fingers" EXACT [] synonym: "Syndactyly, 2-3 finger" EXACT [] synonym: "Webbed 2nd-3rd fingers" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:205139009 xref: UMLS:C0432055 is_a: HP:0006101 ! Finger syndactyly [Term] id: HP:0001234 name: Hitchhiker thumb alt_id: HP:0040021 def: "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending. subset: hposlim_core synonym: "Abducted thumb" EXACT [] synonym: "Hitchhiker thumb" EXACT layperson [] xref: UMLS:C1857269 is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009603 ! Deviation of the thumb is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0001238 name: Slender finger def: "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [PMID:19125433] subset: hposlim_core synonym: "Narrow fingers" EXACT layperson [] synonym: "Slender finger" EXACT layperson [] synonym: "Slender fingers" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "thin fingers" EXACT layperson [] xref: UMLS:C1857482 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001239 name: Wrist flexion contracture alt_id: HP:0006049 alt_id: HP:0006137 def: "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist." [https://orcid.org/0000-0002-0736-9199] synonym: "Wrist contracture" EXACT [] synonym: "Wrist flexion deformity" EXACT [] xref: SNOMEDCT_US:202275008 xref: UMLS:C0409345 is_a: HP:0003019 ! Abnormality of the wrist is_a: HP:0100360 ! Upper-limb joint contracture [Term] id: HP:0001241 name: Capitate-hamate fusion synonym: "Capitate-hamate fusions" EXACT [] synonym: "Fused capitate and hamate" EXACT [] synonym: "Fusion of capitate and hamate" EXACT [] synonym: "Fusion of hamate and capitate" EXACT [] xref: UMLS:C1857002 is_a: HP:0004259 ! Abnormality of the hamate bone is_a: HP:0004262 ! Abnormality of the capitate bone is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0001245 name: Small thenar eminence alt_id: HP:0006188 def: "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. subset: hposlim_core synonym: "Decreased thenar eminence" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic thenar eminences" EXACT [] synonym: "Thenar hypoplasia" EXACT [] synonym: "Thenar muscle hypoplasia" EXACT [] xref: UMLS:C1846474 is_a: HP:0001227 ! Abnormality of the thenar eminence [Term] id: HP:0001248 name: Short tubular bones of the hand def: "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals." [https://orcid.org/0000-0002-0736-9199] synonym: "Shortened short tubular bones of the hand" EXACT [] xref: UMLS:C4025795 is_a: HP:0003026 ! Short long bone is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001249 name: Intellectual disability alt_id: HP:0000730 alt_id: HP:0001267 alt_id: HP:0001286 alt_id: HP:0002122 alt_id: HP:0002192 alt_id: HP:0002316 alt_id: HP:0002382 alt_id: HP:0002386 alt_id: HP:0002402 alt_id: HP:0002458 alt_id: HP:0002482 alt_id: HP:0002499 alt_id: HP:0002543 alt_id: HP:0003767 alt_id: HP:0006833 alt_id: HP:0006877 alt_id: HP:0007154 alt_id: HP:0007176 alt_id: HP:0007180 def: "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: MSH:D008607 xref: SNOMEDCT_US:228156007 xref: SNOMEDCT_US:247578003 xref: SNOMEDCT_US:91138005 xref: UMLS:C0025362 xref: UMLS:C0423903 xref: UMLS:C0917816 xref: UMLS:C1843367 xref: UMLS:C3714756 xref: UMLS:C4020876 is_a: HP:0011446 ! Abnormality of mental function is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0001250 name: Seizure alt_id: HP:0001275 alt_id: HP:0001303 alt_id: HP:0002125 alt_id: HP:0002182 alt_id: HP:0002279 alt_id: HP:0002306 alt_id: HP:0002348 alt_id: HP:0002391 alt_id: HP:0002417 alt_id: HP:0002430 alt_id: HP:0002431 alt_id: HP:0002432 alt_id: HP:0002434 alt_id: HP:0002437 alt_id: HP:0002466 alt_id: HP:0002479 alt_id: HP:0002794 alt_id: HP:0006997 alt_id: HP:0010520 def: "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [https://orcid.org/0000-0002-0736-9199, PMID:15816939] comment: A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. synonym: "Epilepsy" RELATED layperson [] synonym: "Epileptic seizure" EXACT [] synonym: "Seizures" EXACT plural_form [] xref: MSH:D004827 xref: MSH:D012640 xref: SNOMEDCT_US:128613002 xref: SNOMEDCT_US:246545002 xref: SNOMEDCT_US:313307000 xref: SNOMEDCT_US:84757009 xref: SNOMEDCT_US:91175000 xref: UMLS:C0014544 xref: UMLS:C0036572 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001251 name: Ataxia alt_id: HP:0001253 alt_id: HP:0002513 alt_id: HP:0007050 alt_id: HP:0007157 def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [https://orcid.org/0000-0002-0736-9199] comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. synonym: "Cerebellar ataxia" EXACT [] xref: MSH:D002524 xref: SNOMEDCT_US:85102008 xref: UMLS:C0007758 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001252 name: Hypotonia alt_id: HP:0011398 def: "Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [https://orcid.org/0000-0002-0736-9199, PMID:21418198] comment: Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. synonym: "Central hypotonia" NARROW [] synonym: "Low muscle tone" EXACT layperson [] synonym: "Low or weak muscle tone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Muscle hypotonia" EXACT [] synonym: "Muscular hypotonia" EXACT [] synonym: "Peripheral hypotonia" NARROW [] xref: MSH:D009123 xref: SNOMEDCT_US:398151007 xref: SNOMEDCT_US:398152000 xref: UMLS:C0026827 is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001254 name: Lethargy def: "A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [] synonym: "Dullness" EXACT [] synonym: "Inaction" EXACT [] synonym: "Inactivity" EXACT [] synonym: "Languor" EXACT [] synonym: "Lethargy" EXACT layperson [] synonym: "Slowness" EXACT [] synonym: "Torpor" EXACT [] xref: MSH:D053609 xref: SNOMEDCT_US:214264003 xref: UMLS:C0023380 is_a: HP:0000745 ! Diminished motivation property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/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: MSH:D009128 xref: SNOMEDCT_US:221360009 xref: SNOMEDCT_US:397790002 xref: UMLS:C0026838 is_a: HP:0001276 ! Hypertonia is_a: HP:0002493 ! Upper motor neuron dysfunction [Term] id: HP:0001258 name: Spastic paraplegia alt_id: HP:0007062 alt_id: HP:0007124 alt_id: HP:0007216 def: "Spasticity and weakness of the leg and hip muscles." [https://orcid.org/0000-0002-0736-9199] comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. synonym: "Spastic paraplegia, lower limb" EXACT [] xref: MSH:D010264 xref: SNOMEDCT_US:192967009 xref: UMLS:C0037772 is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0010550 ! Paraplegia [Term] id: HP:0001259 name: Coma def: "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: MSH:D003128 xref: SNOMEDCT_US:371632003 xref: UMLS:C0009421 is_a: HP:0004372 ! Reduced consciousness property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/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: MSH:D004401 xref: SNOMEDCT_US:8011004 xref: UMLS:C0013362 is_a: HP:0002167 ! Abnormality of speech or vocalization [Term] id: HP:0001262 name: Excessive daytime somnolence alt_id: HP:0002189 def: "A state of abnormally strong desire for sleep during the daytime." [] synonym: "Excessive daytime sleepiness" EXACT layperson [] synonym: "More than typical sleepiness during day" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:271782001 xref: SNOMEDCT_US:79519003 xref: UMLS:C2830004 is_a: HP:0002360 ! Sleep 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: "Lack of psychomotor development" EXACT [] synonym: "Mental and motor retardation" RELATED [] synonym: "Motor and developmental delay" EXACT [] synonym: "Motormental retardation" EXACT [] synonym: "Psychomotor delay" EXACT [] synonym: "Psychomotor development deficiency" EXACT [] synonym: "Psychomotor development failure" EXACT [] synonym: "Psychomotor developmental delay" EXACT [] synonym: "Retarded development" EXACT [] synonym: "Retarded mental development" EXACT [] synonym: "Retarded psychomotor development" EXACT [] xref: SNOMEDCT_US:224958001 xref: UMLS:C0557874 xref: UMLS:C1864897 xref: UMLS:C4020875 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001264 name: Spastic diplegia def: "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [https://orcid.org/0000-0002-0736-9199] synonym: "Spastic diparesis" EXACT [] synonym: "Spastic diplegic" EXACT [] xref: MSH:D002547 xref: SNOMEDCT_US:281411007 xref: UMLS:C0023882 is_a: HP:0034353 ! Appendicular spasticity [Term] id: HP:0001265 name: Hyporeflexia alt_id: HP:0002467 def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased reflex response" EXACT layperson [] synonym: "Decreased reflexes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:405946002 xref: UMLS:C0700078 is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001266 name: Choreoathetosis alt_id: HP:0002469 alt_id: HP:0006811 alt_id: HP:0007028 alt_id: HP:0007337 def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [https://orcid.org/0000-0002-0736-9199] synonym: "Choreoathetoid movements" EXACT [] xref: SNOMEDCT_US:43105007 xref: UMLS:C0085583 xref: UMLS:C0234967 is_a: HP:0002072 ! Chorea is_a: HP:0002305 ! Athetosis [Term] id: HP:0001268 name: Mental deterioration alt_id: HP:0002303 alt_id: HP:0006822 alt_id: HP:0007155 alt_id: HP:0007253 alt_id: HP:0007264 alt_id: HP:0007298 def: "Loss of previously present mental abilities, generally in adults." [https://orcid.org/0000-0002-0736-9199] synonym: "Cognitive decline" EXACT layperson [] synonym: "Cognitive decline, progressive" EXACT layperson [] synonym: "Intellectual deterioration" EXACT layperson [] synonym: "Mental deterioration" EXACT layperson [] synonym: "Progressive cognitive decline" EXACT layperson [] xref: MSH:D060825 xref: UMLS:C0234985 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001269 name: Hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." [HPO_CONTRIBUTOR:UKB_tklockgether, https://orcid.org/0000-0002-0736-9199] synonym: "Weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D010291 xref: SNOMEDCT_US:127377003 xref: SNOMEDCT_US:20022000 xref: UMLS:C0018989 is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0001270 name: Motor delay alt_id: HP:0001307 alt_id: HP:0002130 alt_id: HP:0006788 alt_id: HP:0006826 alt_id: HP:0006909 alt_id: HP:0006950 alt_id: HP:0006968 alt_id: HP:0007219 alt_id: HP:0007251 def: "A type of Developmental delay characterized by a delay in acquiring motor skills." [https://orcid.org/0000-0002-0736-9199] synonym: "Delay in motor development" EXACT [] synonym: "Delayed early motor milestones" EXACT [] synonym: "Delayed motor development" EXACT [] synonym: "Delayed motor milestones" EXACT [] synonym: "Locomotor delay" EXACT [] synonym: "Motor developmental delay" EXACT [] synonym: "Motor developmental milestones not achieved" EXACT [] synonym: "Motor retardation" EXACT [] synonym: "No development of motor milestones" RELATED [] synonym: "Retarded motor development" EXACT [] xref: UMLS:C1854301 xref: UMLS:C4020874 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001271 name: Polyneuropathy alt_id: HP:0006941 alt_id: HP:0007287 def: "A generalized disorder of peripheral nerves." [https://orcid.org/0000-0002-0736-9199] synonym: "Peripheral nerve disease" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D010523 xref: MSH:D011115 xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:42345000 xref: SNOMEDCT_US:42658009 xref: UMLS:C0031117 xref: UMLS:C0152025 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001272 name: Cerebellar atrophy alt_id: HP:0002364 alt_id: HP:0006839 alt_id: HP:0007072 alt_id: HP:0007203 def: "Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event." [https://orcid.org/0000-0002-0736-9199, PMID:12169461, PMID:26331051] comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. synonym: "Atrophic cerebellum" EXACT [] synonym: "Degeneration of cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Infratentorial atrophy" RELATED [] xref: SNOMEDCT_US:95646004 xref: UMLS:C0262404 xref: UMLS:C0740279 xref: UMLS:C4020873 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0001273 name: Abnormal corpus callosum morphology alt_id: HP:0007323 def: "Abnormality of the corpus callosum." [https://orcid.org/0000-0002-0736-9199, PMID:21263138] comment: The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. synonym: "Abnormal corpus callosum" EXACT [] synonym: "Abnormality of the corpus callosum" EXACT [] synonym: "Corpus callosum abnormality" EXACT [] xref: UMLS:C1842581 is_a: HP:0002500 ! Abnormal cerebral white matter morphology [Term] id: HP:0001274 name: Agenesis of corpus callosum alt_id: HP:0006800 def: "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of corpus callosum" EXACT [] synonym: "Absent corpus callosum" EXACT [] synonym: "Agenesis of the corpus callosum" EXACT [] synonym: "Callosal agenesis" EXACT [] synonym: "Corpus callosum agenesis" EXACT [] synonym: "Dysplastic or absent corpus callosum" EXACT [] xref: Fyler:4321 xref: MSH:D061085 xref: SNOMEDCT_US:5102002 xref: UMLS:C0175754 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001276 name: Hypertonia alt_id: HP:0002388 def: "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [https://orcid.org/0000-0002-0736-9199] comment: Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. synonym: "Hypertonicity" EXACT [] synonym: "Increased muscle tone" EXACT [] synonym: "Muscle hypertonia" RELATED [] synonym: "Spasticity and rigidity of muscles" NARROW layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D009122 xref: SNOMEDCT_US:41581000 xref: SNOMEDCT_US:56731001 xref: UMLS:C0026826 is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001278 name: Orthostatic hypotension alt_id: HP:0004932 alt_id: HP:0006700 def: "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [https://orcid.org/0000-0002-0736-9199] synonym: "Decrease in blood pressure upon standing up" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Postural hypotension" EXACT [] xref: MSH:D007024 xref: SNOMEDCT_US:28651003 xref: UMLS:C0020651 is_a: HP:0002615 ! Hypotension is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0001279 name: Syncope def: "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." [https://orcid.org/0000-0002-0736-9199] synonym: "Fainting spell" EXACT layperson [] xref: MSH:D013575 xref: SNOMEDCT_US:271594007 xref: SNOMEDCT_US:272030005 xref: SNOMEDCT_US:309585006 xref: UMLS:C0039070 is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-25T10:37:00Z [Term] id: HP:0001281 name: Tetany def: "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency." [] synonym: "Intermittent involuntary muscle spasm" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D013746 xref: SNOMEDCT_US:10629009 xref: UMLS:C0039621 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0001283 name: Bulbar palsy alt_id: HP:0003441 alt_id: HP:0003709 def: "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [https://orcid.org/0000-0002-0736-9199] synonym: "Bulbar muscle weakness" EXACT [] synonym: "Bulbar palsies" EXACT [] synonym: "Bulbar weakness" EXACT [] xref: MSH:D010244 xref: SNOMEDCT_US:398432008 xref: UMLS:C1301959 xref: UMLS:C4082299 is_a: HP:0001324 ! Muscle weakness is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001284 name: Areflexia alt_id: HP:0001314 def: "Absence of neurologic reflexes such as the knee-jerk reaction." [https://orcid.org/0000-0002-0736-9199] comment: The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). synonym: "Absent deep tendon reflexes" EXACT [] synonym: "Absent reflexes" BROAD layperson [] synonym: "Absent tendon reflexes" EXACT layperson [] synonym: "Deep tendon reflexes absent" EXACT [] synonym: "Loss of deep tendon reflexes" EXACT [] xref: MSH:D012021 xref: SNOMEDCT_US:349006 xref: SNOMEDCT_US:37280007 xref: UMLS:C0234146 xref: UMLS:C0241772 xref: UMLS:C0278124 is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001285 name: Spastic tetraparesis alt_id: HP:0002393 def: "Spastic weakness affecting all four limbs." [https://orcid.org/0000-0002-0736-9199] synonym: "Spastic quadriparesis" EXACT [] xref: SNOMEDCT_US:298282001 xref: UMLS:C0575059 is_a: HP:0002273 ! Tetraparesis is_a: HP:0034353 ! Appendicular spasticity [Term] id: HP:0001287 name: Meningitis def: "Inflammation of the meninges." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D008581 xref: SNOMEDCT_US:7180009 xref: UMLS:C0025289 is_a: HP:0011450 ! Unusual CNS infection [Term] id: HP:0001288 name: Gait disturbance alt_id: HP:0006953 def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [https://orcid.org/0000-0002-0736-9199, PMID:27770207] comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. synonym: "Abnormal gait" EXACT layperson [] synonym: "Abnormal walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Gait abnormalities" EXACT [] synonym: "Gait difficulties" EXACT [] synonym: "Gait disturbances" EXACT [] synonym: "Impaired gait" EXACT layperson [] xref: SNOMEDCT_US:22325002 xref: UMLS:C0575081 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001289 name: Confusion alt_id: HP:0000731 def: "Lack of clarity and coherence of thought, perception, understanding, or action." [] synonym: "Confusion" EXACT layperson [] synonym: "Disorientation" EXACT layperson [] synonym: "Easily confused" EXACT layperson [] synonym: "Mental disorientation" EXACT layperson [] xref: MSH:D003221 xref: SNOMEDCT_US:286933003 xref: UMLS:C0009676 is_a: HP:0100543 ! Cognitive impairment property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/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: MSH:D020521 xref: SNOMEDCT_US:230690007 xref: UMLS:C0038454 is_a: HP:0100659 ! Abnormal cerebral vascular morphology [Term] id: HP:0001298 name: Encephalopathy def: "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state." [HPO_CONTRIBUTOR:KI_phemming, https://orcid.org/0000-0002-0736-9199] comment: This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. xref: MSH:D001927 xref: SNOMEDCT_US:81308009 xref: UMLS:C0085584 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001300 name: Parkinsonism def: "Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." [https://orcid.org/0000-0002-0736-9199] synonym: "Parkinsonian disease" RELATED [] xref: MSH:D020734 xref: SNOMEDCT_US:32798002 xref: UMLS:C0242422 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0001301 name: Chronic sensorineural polyneuropathy xref: UMLS:C4025794 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001302 name: Pachygyria def: "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:22427329] synonym: "Cerebral pachygyria" EXACT [] synonym: "Fewer and broader ridges in brain" EXACT layperson [] xref: MSH:D054082 xref: SNOMEDCT_US:23024003 xref: UMLS:C0266483 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0001304 name: Torsion dystonia def: "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Dystonia musculorum deformans" EXACT [] xref: MSH:D004422 xref: SNOMEDCT_US:22451001 xref: SNOMEDCT_US:431034009 xref: UMLS:C0013423 is_a: HP:0001332 ! Dystonia [Term] id: HP:0001305 name: Dandy-Walker malformation alt_id: HP:0001313 alt_id: HP:0006809 def: "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [https://orcid.org/0000-0002-0736-9199, PMID:26246090] synonym: "Dandy-walker anomaly" EXACT [] synonym: "Dandy-Walker cyst" EXACT [] xref: MSH:D003616 xref: SNOMEDCT_US:14447001 xref: UMLS:C0010964 is_a: HP:0001320 ! Cerebellar vermis hypoplasia is_a: HP:0002198 ! Dilated fourth ventricle is_a: HP:0002350 ! Cerebellar cyst is_a: HP:0005445 ! Enlarged posterior fossa [Term] id: HP:0001308 name: Tongue fasciculations alt_id: HP:0003727 def: "Fasciculations or fibrillation affecting the tongue muscle." [https://orcid.org/0000-0002-0736-9199] synonym: "Lingual fasciculations" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual fibrillations" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Lingual twitching" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Tongue fasciculation" EXACT [] synonym: "Tongue fasciculations/fibrillations" EXACT [] synonym: "Tongue twitching" EXACT layperson [] synonym: "Twitching of the tongue" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D005207 xref: SNOMEDCT_US:249878001 xref: UMLS:C0239548 is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0001310 name: Dysmetria def: "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." [https://orcid.org/0000-0002-0736-9199] comment: Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. synonym: "Abnormal finger chase test" RELATED [] synonym: "Abnormal finger-nose-finger test" RELATED [] synonym: "Lack of coordination of movement" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002524 xref: SNOMEDCT_US:32566006 xref: UMLS:C0234162 is_a: HP:0001251 ! Ataxia [Term] id: HP:0001311 name: Abnormal nervous system electrophysiology alt_id: HP:0002531 alt_id: HP:0003129 def: "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations." [https://orcid.org/0000-0002-0736-9199] synonym: "Neurophysiologic abnormalities" EXACT [] synonym: "Neurophysiologic abnormality" EXACT [] xref: UMLS:C4021781 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0001312 name: Giant somatosensory evoked potentials def: "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [https://orcid.org/0000-0002-0736-9199] synonym: "Giant SEPS" EXACT [] xref: UMLS:C3806961 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001315 name: Reduced tendon reflexes alt_id: HP:0001316 def: "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease." [https://orcid.org/0000-0002-0736-9199, PMID:20941667] comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. synonym: "Absent or decreased deep tendon reflexes" EXACT [] synonym: "Decreased deep tendon reflexes" EXACT [] synonym: "Decreased tendon reflexes" EXACT [] synonym: "Decreased to absent deep tendon reflexes" EXACT [] synonym: "Decreased/absent deep tendon reflexes" EXACT [] synonym: "Depressed tendon reflexes" EXACT [] synonym: "Diminished deep tendon reflexes" EXACT [] synonym: "Diminished or absent deep tendon reflexes" EXACT [] synonym: "Diminished or absent tendon reflexes" EXACT [] synonym: "Hypoactive to absent deep tendon reflexes" EXACT [] synonym: "Impaired tendon reflexes" EXACT [] synonym: "Reduced/absent deep tendon reflexes" EXACT [] synonym: "Weak or absent deep tendon reflexes" EXACT [] xref: UMLS:C1866934 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0001317 name: Abnormal cerebellum morphology def: "Any structural abnormality of the cerebellum." [https://orcid.org/0000-0002-0736-9199, PMID:27160001] comment: A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. synonym: "Abnormality of the cerebellum" EXACT layperson [] synonym: "Cerebellar abnormalities" EXACT layperson [] synonym: "Cerebellar abnormality" EXACT layperson [] synonym: "Cerebellar anomaly" EXACT layperson [] synonym: "Cerebellar signs" EXACT [] xref: UMLS:C0742038 xref: UMLS:C1866129 is_a: HP:0011283 ! Abnormal metencephalon morphology [Term] id: HP:0001319 name: Neonatal hypotonia alt_id: HP:0006830 alt_id: HP:0008976 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital hypotonia" RELATED [] synonym: "Hypotonia, in neonatal onset" EXACT [] synonym: "Hypotonia, neonatal" EXACT [] synonym: "Low muscle tone, in neonatal onset" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D009123 xref: SNOMEDCT_US:205294008 xref: UMLS:C2267233 is_a: HP:0001252 ! Hypotonia [Term] id: HP:0001320 name: Cerebellar vermis hypoplasia def: "Underdevelopment of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] synonym: "Cerebellar vermal hypoplasia" EXACT [] synonym: "Hypoplasia of the cerebellar vermis" EXACT [] synonym: "Hypoplastic cerebellar vermis" EXACT [] xref: UMLS:C1840379 is_a: HP:0001321 ! Cerebellar hypoplasia is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0001321 name: Cerebellar hypoplasia alt_id: HP:0006806 alt_id: HP:0006910 alt_id: HP:0007038 alt_id: HP:0007053 def: "Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time." [https://orcid.org/0000-0002-0736-9199, PMID:26331051, PMID:27160001] comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. synonym: "Congenital cerebellar hypoplasia" EXACT [] synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] synonym: "Small cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped cerebellum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:C562568 xref: SNOMEDCT_US:16026008 xref: UMLS:C0266470 is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0001322 name: obsolete Brain very small is_obsolete: true replaced_by: HP:0006872 [Term] id: HP:0001324 name: Muscle weakness alt_id: HP:0002309 alt_id: HP:0008979 alt_id: HP:0009012 alt_id: HP:0009061 def: "Reduced strength of muscles." [https://orcid.org/0000-0002-0736-9199, PMID:15832536] comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. synonym: "Muscle weakness" EXACT layperson [] synonym: "Muscular weakness" EXACT layperson [] xref: MSH:D018908 xref: SNOMEDCT_US:26544005 xref: UMLS:C0151786 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0001325 name: Hypoglycemic coma 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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6262-8264 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9446-5121 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-1592-0825 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4672-4923 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-5554-6946 property_value: http://purl.org/dc/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: MSH:C535562 xref: SNOMEDCT_US:253143001 xref: UMLS:C0431371 is_a: HP:0007375 ! Abnormal septum pellucidum morphology [Term] id: HP:0001332 name: Dystonia alt_id: HP:0002328 def: "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [https://orcid.org/0000-0002-0736-9199] synonym: "Dystonic disease" RELATED [] synonym: "Dystonic movements" EXACT [] xref: MSH:D004421 xref: UMLS:C0013421 xref: UMLS:C4020871 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001334 name: Communicating hydrocephalus def: "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199] comment: Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. xref: MSH:D006849 xref: SNOMEDCT_US:271569006 xref: UMLS:C0009451 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0001335 name: Bimanual synkinesia def: "Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand." [https://orcid.org/0000-0002-0736-9199, PMID:22412265, PMID:28945198] comment: Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice. synonym: "Hand mirror movements" EXACT layperson [] synonym: "Mirror hand movements" EXACT layperson [] synonym: "Mirror movements" EXACT layperson [] xref: SNOMEDCT_US:229247004 xref: UMLS:C0454455 is_a: HP: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: MSH:D009207 xref: SNOMEDCT_US:127324008 xref: SNOMEDCT_US:17450006 xref: UMLS:C0027066 xref: UMLS:C1854302 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0001337 name: Tremor alt_id: HP:0001295 alt_id: HP:0001309 def: "An unintentional, oscillating to-and-fro muscle movement about a joint axis." [https://orcid.org/0000-0002-0736-9199, PMID:16344298, PMID:20589866] comment: Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. synonym: "Tremor" EXACT layperson [] synonym: "Tremors" EXACT plural_form [] xref: MSH:D014202 xref: SNOMEDCT_US:26079004 xref: UMLS:C0040822 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0001338 name: Partial agenesis of the corpus callosum alt_id: HP:0006982 alt_id: HP:0007090 alt_id: HP:0007128 def: "A partial failure of the development of the corpus callosum." [https://orcid.org/0000-0002-0736-9199] synonym: "Corpus callosum agenesis, partial" EXACT [] synonym: "Partial agenesis of corpus callosum" EXACT [] synonym: "Partial corpus callosum agenesis" EXACT [] synonym: "Partial or complete agenesis of corpus callosum" EXACT [] synonym: "Partial or complete agenesis of the corpus callosum" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Partial to complete agenesis of corpus callosum" EXACT [] synonym: "Partial-total agenesis of corpus callosum" EXACT [] xref: MSH:C536111 xref: SNOMEDCT_US:253140003 xref: UMLS:C0431368 xref: UMLS:C1857278 is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0001339 name: Lissencephaly alt_id: HP:0002537 def: "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28440899] comment: Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. synonym: "Fewer or absent grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D054082 xref: SNOMEDCT_US:204036008 xref: UMLS:C0266463 xref: UMLS:C1879312 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001340 name: Enhancement of the C-reflex def: "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response." [https://orcid.org/0000-0002-0736-9199, PMID:4819909] xref: UMLS:C3552824 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001341 name: Olfactory lobe agenesis synonym: "Olfactory lobe absence" EXACT layperson [] xref: UMLS:C1855331 is_a: HP:0025057 ! 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: MSH:D002543 xref: MSH:D020300 xref: SNOMEDCT_US:230706003 xref: SNOMEDCT_US:274100004 xref: UMLS:C0553692 xref: UMLS:C2937358 is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0001343 name: Kernicterus def: "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D007647 xref: SNOMEDCT_US:50143004 xref: SNOMEDCT_US:74925009 xref: UMLS:C0022610 is_a: HP:0012443 ! 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: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7062-8192 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-7941-2961 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-9221-9226 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0183-1637 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-1785-7126 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2291-6952 property_value: http://purl.org/dc/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: MSH:D012021 xref: SNOMEDCT_US:86854008 xref: UMLS:C0151889 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0001348 name: Brisk reflexes def: "Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal." [] synonym: "Brisk deep tendon reflexes" EXACT [] xref: UMLS:C2673700 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0001349 name: Facial diplegia alt_id: HP:0005334 alt_id: HP:0007085 def: "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Bilateral facial weakness" EXACT [] synonym: "Facial paresis, bilateral" EXACT [] xref: UMLS:C1836003 is_a: HP:0010628 ! Facial palsy [Term] id: HP:0001350 name: Slurred speech def: "Abnormal coordination of muscles involved in speech." [https://orcid.org/0000-0002-9102-5232] synonym: "Slurred speech" EXACT layperson [] xref: SNOMEDCT_US:289195008 xref: UMLS:C0234518 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001351 name: Jerk-locked premyoclonus spikes def: "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG." [https://orcid.org/0000-0002-0736-9199, PMID:1464676, PMID:30653168] comment: EEG-EMG jerk-locked averaging is a technique that combines EEG and EMG to assess myoclonus. The technique use electromyography (EMG) electrodes for the arms or legs, and correlates averaged EEG responses with EMG bursts used as a trigger. xref: UMLS:C3552825 is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0001355 name: Megalencephaly def: "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28658095, PMID:29594439] comment: Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces. synonym: "Enlarged brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Macrencephaly" EXACT [] xref: MSH:D058627 xref: SNOMEDCT_US:19410003 xref: UMLS:C0221355 is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0001357 name: Plagiocephaly alt_id: HP:0001121 def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [PMID:19125436] comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. subset: hposlim_core synonym: "Asymmetry of the posterior cranium" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of the posterior head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Asymmetry of the posterior skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformational plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Flat head" BROAD [https://orcid.org/0000-0002-5316-1399] synonym: "Flat head syndrome" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of cranial vault" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of head" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Flattening of skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Positional plagiocephaly" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped cranium" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped head" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Rhomboid shaped skull" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: MSH:D049068 xref: MSH:D059041 xref: SNOMEDCT_US:21850008 xref: SNOMEDCT_US:254024005 xref: UMLS:C0265529 xref: UMLS:C1450010 xref: UMLS:C4072830 xref: UMLS:C4280597 xref: UMLS:C4280598 xref: UMLS:C4280807 is_a: HP:0002683 ! Abnormal calvaria morphology [Term] id: HP:0001360 name: Holoprosencephaly alt_id: HP:0009807 def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [https://orcid.org/0000-0002-0736-9199] comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. synonym: "Single brain ventricle" EXACT [] xref: Fyler:4338 xref: MSH:D016142 xref: SNOMEDCT_US:30915001 xref: UMLS:C0079541 is_a: HP:0012443 ! 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 fontanel closure" EXACT [] synonym: "Premature suture closure" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4336 xref: MSH:D003398 xref: SNOMEDCT_US:57219006 xref: UMLS:C0010278 xref: UMLS:C0235942 is_a: HP:0002683 ! Abnormal calvaria morphology is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0001367 name: Abnormal joint morphology def: "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal shape of joints" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the joints" EXACT layperson [] synonym: "Anomaly of the joints" EXACT layperson [] synonym: "Joint disease" RELATED layperson [] xref: MSH:D007592 xref: SNOMEDCT_US:399269003 xref: UMLS:C0022408 xref: UMLS:C0240083 is_a: HP:0011842 ! Abnormal skeletal morphology [Term] id: HP:0001369 name: Arthritis def: "Inflammation of a joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Arthritis" EXACT layperson [] synonym: "Joint inflammation" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D001168 xref: SNOMEDCT_US:3723001 xref: UMLS:C0003864 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001370 name: Rheumatoid arthritis def: "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures." [https://orcid.org/0000-0002-0736-9199] synonym: "RA" EXACT abbreviation [] synonym: "Rheumatoid arthritis" EXACT layperson [] xref: MSH:D001172 xref: SNOMEDCT_US:69896004 xref: UMLS:C0003873 is_a: HP:0001369 ! Arthritis [Term] id: HP:0001371 name: Flexion contracture alt_id: HP:0001372 alt_id: HP:0001381 alt_id: HP:0005053 alt_id: HP:0005189 alt_id: HP:0005660 def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Flexed joint that cannot be straightened" EXACT layperson [] synonym: "Flexion contractures" EXACT [] synonym: "Flexion contractures of joints" EXACT [] xref: MSH:D003286 xref: SNOMEDCT_US:203598005 xref: SNOMEDCT_US:385522000 xref: SNOMEDCT_US:55033002 xref: SNOMEDCT_US:57048009 xref: SNOMEDCT_US:7890003 xref: SNOMEDCT_US:88565003 xref: UMLS:C0009917 xref: UMLS:C0009918 xref: UMLS:C0333068 xref: UMLS:C1850530 is_a: HP:0034392 ! Joint contracture [Term] id: HP:0001373 name: Joint dislocation alt_id: HP:0002772 alt_id: HP:0005837 def: "Displacement or malalignment of joints." [https://orcid.org/0000-0002-0736-9199] comment: Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. synonym: "Joint dislocation" EXACT layperson [] synonym: "Joint dislocations" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:D004204 xref: SNOMEDCT_US:108367008 xref: SNOMEDCT_US:87642003 xref: UMLS:C0012691 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001374 name: Congenital hip dislocation synonym: "Congenital dislocation of the hip" EXACT [] synonym: "Congenital dislocation of the hips" EXACT [] synonym: "Congenital hip anomaly" EXACT [] synonym: "Congenital hip dislocations" EXACT [] synonym: "Dislocated hip since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006618 xref: SNOMEDCT_US:48334007 xref: SNOMEDCT_US:52781008 xref: UMLS:C0019555 is_a: HP:0002827 ! Hip dislocation [Term] id: HP:0001376 name: Limitation of joint mobility alt_id: HP:0003101 def: "A reduction in the freedom of movement of one or more joints." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased joint mobility" EXACT layperson [] synonym: "Decreased mobility of joints" EXACT layperson [] synonym: "Limitation of joint mobility" EXACT layperson [] synonym: "Limited joint mobility" EXACT layperson [] synonym: "Limited joint motion" EXACT layperson [] xref: UMLS:C1857108 is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001377 name: Limited elbow extension alt_id: HP:0005073 def: "Limited ability to straighten the arm at the elbow joint." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased elbow extension" EXACT layperson [] synonym: "Elbow limited extension" EXACT layperson [] synonym: "Limitation of elbow extension" EXACT layperson [] synonym: "Limited elbow extension" EXACT layperson [] synonym: "Limited extension at elbows" EXACT layperson [] synonym: "Limited forearm extension" EXACT layperson [] synonym: "Restricted elbow extension" EXACT layperson [] xref: UMLS:C1867103 is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0001379 name: obsolete Degenerative joint disease is_obsolete: true replaced_by: HP:0002758 [Term] id: HP:0001380 name: obsolete Ligamentous laxity is_obsolete: true replaced_by: HP:0001388 [Term] id: HP:0001382 name: Joint hypermobility alt_id: HP:0001378 alt_id: HP:0005034 def: "The ability of a joint to move beyond its normal range of motion." [https://orcid.org/0000-0002-0736-9199] synonym: "Double-Jointed" EXACT layperson [] synonym: "Extensible joints" EXACT [] synonym: "Flexible joints" EXACT layperson [] synonym: "Hyperextensible joints" EXACT [] synonym: "Increased joint mobility" EXACT [] synonym: "Increased mobility of joints" EXACT layperson [] synonym: "Joint hyperextensibility" EXACT [] xref: SNOMEDCT_US:298181000 xref: UMLS:C1844820 is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001384 name: Abnormal hip joint morphology def: "An abnormality of the hip joint." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the hip joint" EXACT layperson [] synonym: "Abnormality of the hip joints" RELATED layperson [] xref: UMLS:C4020870 is_a: HP:0003272 ! Abnormal hip bone morphology is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0001385 name: Hip dysplasia alt_id: HP:0008787 def: "The presence of developmental dysplasia of the hip." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal formation of the hip" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Congenital hip dysplasia" EXACT [] xref: MSH:D006618 xref: SNOMEDCT_US:48334007 xref: SNOMEDCT_US:52781008 xref: UMLS:C0019555 is_a: HP:0003272 ! Abnormal hip bone morphology [Term] id: HP:0001386 name: Joint swelling synonym: "Joint swelling" EXACT layperson [] xref: SNOMEDCT_US:271771009 xref: UMLS:C0152031 is_a: HP:0000969 ! Edema is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001387 name: Joint stiffness alt_id: HP:0002775 alt_id: HP:0003033 def: "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [https://orcid.org/0000-0002-0736-9199] synonym: "Joint stiffness" EXACT layperson [] synonym: "Stiff joint" EXACT layperson [] synonym: "Stiff joints" EXACT layperson [] xref: SNOMEDCT_US:84445001 xref: UMLS:C0162298 is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0001388 name: Joint laxity alt_id: HP:0001380 alt_id: HP:0001383 alt_id: HP:0002771 def: "Lack of stability of a joint." [https://orcid.org/0000-0002-0736-9199] comment: Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. synonym: "Hyperlaxity" EXACT [] synonym: "Joint instability" EXACT layperson [https://orcid.org/0000-0002-6387-4317] synonym: "Joint ligamentous laxity" EXACT [] synonym: "Lax joints" EXACT layperson [] synonym: "Ligamentous laxity" EXACT [] synonym: "Loose-jointedness" EXACT layperson [] synonym: "Loosejointedness" EXACT layperson [] xref: MSH:D007593 xref: SNOMEDCT_US:27911000 xref: SNOMEDCT_US:298203008 xref: UMLS:C0086437 xref: UMLS:C0158359 is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001392 name: Abnormality of the liver def: "An abnormality of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal liver" EXACT layperson [] synonym: "Abnormality of the liver" EXACT layperson [] synonym: "Liver abnormality" EXACT layperson [] synonym: "Liver disease" RELATED layperson [] xref: MSH:D008107 xref: SNOMEDCT_US:235856003 xref: UMLS:C0023895 xref: UMLS:C4021780 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001394 name: Cirrhosis def: "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [https://orcid.org/0000-0002-0736-9199] comment: Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. synonym: "Hepatic cirrhosis" EXACT [] synonym: "Liver cirrhosis" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Scar tissue replaces healthy tissue in the liver" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D008103 xref: SNOMEDCT_US:19943007 xref: UMLS:C0023890 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0001395 name: Hepatic fibrosis def: "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [https://orcid.org/0000-0002-0736-9199] synonym: "Liver fibrosis" EXACT [] xref: MSH:D008103 xref: SNOMEDCT_US:62484002 xref: UMLS:C0239946 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0001396 name: Cholestasis def: "Impairment of bile flow due to obstruction in bile ducts." [https://orcid.org/0000-0002-0736-9199] synonym: "Slowed or blocked flow of bile from liver" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002779 xref: SNOMEDCT_US:197446008 xref: SNOMEDCT_US:30144000 xref: SNOMEDCT_US:33688009 xref: UMLS:C0008370 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001397 name: Hepatic steatosis alt_id: HP:0002252 alt_id: HP:0200121 def: "Steatosis is a term used to denote lipid accumulation within hepatocytes." [https://orcid.org/0000-0002-0736-9199, PMID:31603713] comment: Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. synonym: "Fatty infiltration of liver" EXACT layperson [] synonym: "Fatty liver" EXACT layperson [] synonym: "Liver steatosis" EXACT [] synonym: "Steatosis" EXACT [] xref: MSH:D005234 xref: SNOMEDCT_US:197321007 xref: SNOMEDCT_US:442191002 xref: UMLS:C2711227 is_a: HP:0006561 ! Lipid accumulation in hepatocytes [Term] id: HP:0001399 name: Hepatic failure synonym: "Liver failure" EXACT layperson [] xref: MSH:D017093 xref: SNOMEDCT_US:59927004 xref: UMLS:C0085605 is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0001400 name: obsolete Hepatic abscesses due to immunodeficiency is_obsolete: true replaced_by: HP:0100523 [Term] id: HP:0001401 name: Intrahepatic biliary dysgenesis xref: UMLS:C1859235 is_a: HP:0011040 ! Abnormal intrahepatic bile duct morphology [Term] id: HP:0001402 name: Hepatocellular carcinoma alt_id: HP:0002899 alt_id: HP:0003007 alt_id: HP:0006750 def: "A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver." [https://orcid.org/0000-0002-0736-9199] comment: Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis. synonym: "Increased hepatocellular carcinoma risk" RELATED [] synonym: "Increased incidence of hepatocellular carcinoma" RELATED [] xref: MSH:D006528 xref: NCIT:C3099 xref: SNOMEDCT_US:109841003 xref: SNOMEDCT_US:187769009 xref: SNOMEDCT_US:25370001 xref: UMLS:C1862761 xref: UMLS:C1867955 xref: UMLS:C2239176 is_a: HP:0002896 ! Neoplasm of the liver [Term] id: HP:0001403 name: Macrovesicular hepatic steatosis def: "A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Macrovesicular steatosis" EXACT [] xref: UMLS:C1837256 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001404 name: Hepatocellular necrosis synonym: "Death of liver cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hepatocellular loss" EXACT [] xref: UMLS:C1855038 is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0001405 name: Periportal fibrosis def: "The presence of fibrosis affecting the interlobular stroma of liver." [https://orcid.org/0000-0002-0736-9199] comment: Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. xref: UMLS:C1849766 is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0001406 name: Intrahepatic cholestasis def: "Impairment of bile flow due to obstruction in the small bile ducts within the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Impaired release of bile from liver" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002780 xref: SNOMEDCT_US:4637005 xref: UMLS:C0008372 is_a: HP:0001396 ! Cholestasis is_a: HP:0031865 ! Abnormal liver physiology [Term] id: HP:0001407 name: Hepatic cysts synonym: "Liver cysts" EXACT layperson [] xref: SNOMEDCT_US:85057007 xref: UMLS:C0267834 is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0001408 name: Bile duct proliferation def: "Proliferative changes of the bile ducts." [https://orcid.org/0000-0002-0736-9199] synonym: "Proliferation of bile canaliculi" EXACT [] xref: SNOMEDCT_US:20239009 xref: UMLS:C0267818 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0001409 name: Portal hypertension def: "Increased pressure in the portal vein." [https://orcid.org/0000-0002-0736-9199] comment: Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg. xref: MSH:D006975 xref: SNOMEDCT_US:34742003 xref: UMLS:C0020541 is_a: HP:0006707 ! Abnormality of the hepatic vasculature is_a: HP:0032263 ! Increased blood pressure [Term] id: HP:0001410 name: Decreased liver function alt_id: HP:0004393 alt_id: HP:0005228 alt_id: HP:0006570 def: "Reduced ability of the liver to perform its functions." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased liver function" EXACT layperson [] synonym: "Hepatopathy" RELATED [] synonym: "Liver dysfunction" EXACT layperson [] synonym: "Liver dysfunction, mild" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: MSH:D008107 xref: SNOMEDCT_US:75183008 xref: SNOMEDCT_US:77981007 xref: UMLS:C0086565 xref: UMLS:C0232744 xref: UMLS:C3279149 is_a: HP:0025155 ! Abnormality of hepatobiliary system physiology [Term] id: HP:0001412 name: Enteroviral hepatitis def: "Inflammation of the liver due to infection with enterovirus." [PMID:15056237] xref: UMLS:C1843995 is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0001413 name: Micronodular cirrhosis def: "A type of cirrhosis characterized by the presence of small regenerative nodules." [https://orcid.org/0000-0002-0736-9199] comment: In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy. xref: SNOMEDCT_US:21861000 xref: UMLS:C0267812 is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0001414 name: Microvesicular hepatic steatosis def: "A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by liver biopsy. synonym: "Microvesicular steatosis" EXACT [] xref: UMLS:C1850415 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001417 name: X-linked inheritance alt_id: HP:0001418 def: "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [https://orcid.org/0000-0002-0736-9199] synonym: "monoallelic_X_hemizygous" EXACT [] synonym: "X-linked" EXACT [] synonym: "X-linked form" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D050172 xref: SNOMEDCT_US:263934009 xref: UMLS:C0241764 is_a: HP:0034345 ! Mendelian inheritance [Term] id: HP:0001419 name: X-linked recessive inheritance def: "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [https://orcid.org/0000-0002-0736-9199] synonym: "X-linked recessive" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1845977 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001421 name: Abnormality of the musculature of the hand synonym: "Abnormal hand muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025786 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:59:00Z [Term] id: HP:0001423 name: X-linked dominant inheritance def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [https://orcid.org/0000-0002-0736-9199] synonym: "X-linked dominant" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1847879 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001425 name: obsolete Heterogeneous synonym: "Genetic heterogeneity" EXACT [] is_obsolete: true replaced_by: HP:0000005 [Term] id: HP:0001426 name: 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: MSH:D020412 xref: UMLS:C0600599 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001427 name: Mitochondrial inheritance alt_id: HP:0001431 alt_id: HP:0001458 alt_id: HP:0001506 def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [https://orcid.org/0000-0002-0736-9199] synonym: "Mitochondrial" EXACT [] synonym: "mitochondrial" EXACT HP:0034334 [] xref: MSH:D050259 xref: UMLS:C0887941 is_a: HP:0034345 ! Mendelian inheritance [Term] id: HP:0001428 name: obsolete Somatic mutation is_obsolete: true replaced_by: HP:0001442 [Term] id: HP:0001430 name: Abnormality of the calf musculature alt_id: HP:0004300 synonym: "Abnormal calf muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of calf musculature" EXACT [] xref: UMLS:C4021779 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:18:00Z [Term] id: HP:0001433 name: Hepatosplenomegaly def: "Simultaneous enlargement of the liver and spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged liver and spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:36760000 xref: UMLS:C0019214 is_a: HP:0001744 ! Splenomegaly is_a: HP:0002240 ! Hepatomegaly property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T10:51:00Z [Term] id: HP:0001435 name: Abnormality of the shoulder girdle musculature alt_id: HP:0004301 synonym: "Abnormality of shoulder musculature" EXACT layperson [] xref: UMLS:C4021778 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:19:00Z [Term] id: HP:0001436 name: Abnormality of the foot musculature def: "An anomaly of the musculature of foot." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal foot muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025785 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001437 name: Abnormality of the musculature of the lower limbs xref: UMLS:C4025784 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001438 name: Abnormal abdomen morphology def: "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [https://orcid.org/0000-0002-0736-9199] synonym: "Abdomen abnormality" RELATED layperson [] synonym: "Abnormality of abdomen morphology" EXACT [] synonym: "Abnormality of abdomen structure" EXACT layperson [] synonym: "Abnormality of the abdomen" EXACT [] xref: UMLS:C4020869 is_a: HP:0025031 ! Abnormality of the digestive system [Term] id: HP:0001440 name: Metatarsal synostosis alt_id: HP:0004705 alt_id: HP:0008098 synonym: "Fusion of metatarsals" EXACT [] synonym: "Fusion of the long bones of the feet" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Synostosis involving metatarsal bones" EXACT [] xref: UMLS:C1862697 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:36:00Z [Term] id: HP:0001441 name: Abnormality of the musculature of the thigh synonym: "Abnormal thigh muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025783 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:27:00Z [Term] id: HP:0001442 name: 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 consitutional 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: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001444 name: 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: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001446 name: Abnormality of the musculature of the upper limbs synonym: "Abnormal upper limb muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025779 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:40:00Z [Term] id: HP:0001449 name: Duplication of metatarsal bones synonym: "Duplication of long bones of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025778 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009136 ! Duplication involving bones of the feet property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:37:00Z [Term] id: HP:0001450 name: Y-linked inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [https://orcid.org/0000-0002-0736-9199] synonym: "monoallelic_Y_hemizygous" EXACT HP:0034334 [] synonym: "Y-linked" EXACT [] xref: MSH:D050173 xref: UMLS:C0814045 is_a: HP:0034345 ! Mendelian inheritance [Term] id: HP:0001452 name: obsolete Autosomal dominant contiguous gene syndrome is_obsolete: true replaced_by: HP:0000006 [Term] id: HP:0001454 name: Abnormality of the upper arm xref: UMLS:C4025776 is_a: HP:0002817 ! Abnormality of the upper limb property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:41:00Z [Term] id: HP:0001457 name: Abnormality of the musculature of the upper arm xref: UMLS:C4025775 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0001454 ! Abnormality of the upper arm property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:42:00Z [Term] id: HP:0001459 name: 1-3 toe syndactyly def: "Syndactyly with fusion of toes one to three." [https://orcid.org/0009-0006-4530-3154] synonym: "Webbed 1st-3rd toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025774 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0001460 name: Aplasia/Hypoplasia involving the skeletal musculature def: "Absence or underdevelopment of the musculature." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small skeletal muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped skeletal muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025773 is_a: HP:0030236 ! Abnormality of muscle size property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:46:00Z [Term] id: HP:0001464 name: Aplasia/Hypoplasia involving the shoulder musculature def: "Absence or underdevelopment of the muscles of the shoulder." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025772 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:49:00Z [Term] id: HP:0001465 name: Amyotrophy involving the shoulder musculature synonym: "Shoulder muscle degeneration" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Wasting of shoulder muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025771 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:50:00Z [Term] id: HP:0001466 name: Contiguous gene syndrome def: "A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes" [] comment: Examples of contiguous gene synmdromes include Prader-Willi syndrome, Angelman syndrome, and Williams syndrome. xref: UMLS:C1855496 is_a: HP:0034335 ! Inheritance 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: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:51:00Z [Term] id: HP:0001468 name: Aplasia/Hypoplasia involving the musculature of the upper arm def: "Absence or underdevelopment of the muscles of the upper arm." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/small upper arm muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped upper arm muscles" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025769 is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:52:00Z [Term] id: HP:0001469 name: Abnormal morphology of the pelvis musculature synonym: "Abnormality of the musculature of the pelvis" EXACT [] xref: UMLS:C4025768 is_a: HP:0011805 ! Abnormal skeletal muscle morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:55:00Z [Term] id: HP:0001470 name: Sex-limited expression def: "Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex." [] xref: UMLS:C4025767 is_a: HP:0034335 ! Inheritance 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: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-07T10:56:00Z [Term] id: HP:0001472 name: obsolete Familial predisposition is_obsolete: true replaced_by: HP:0001426 [Term] id: HP:0001473 name: Metatarsal osteolysis alt_id: HP:0001866 def: "Osteolysis involving metatarsal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Osteolysis involving metatarsal bones" EXACT [] xref: UMLS:C1854614 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009134 ! Osteolysis involving bones of the feet property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-04-17T02:38:00Z [Term] id: HP:0001474 name: Sclerotic scapulae def: "Increased density of the bony tissue of the scapula." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: UMLS:C1849263 is_a: HP:0000782 ! Abnormal scapula morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0001475 name: Male-limited expression def: "Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex." [] xref: UMLS:C4025764 is_a: HP:0001470 ! Sex-limited expression [Term] id: HP:0001476 name: Delayed closure of the anterior fontanelle def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed closure anterior fontanel" EXACT [] synonym: "Delayed closure of anterior fontanelle" EXACT [] synonym: "Delayed closure of the bregma sutures" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Delayed closure of the soft spot on the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of anterior fontanelle" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of large anterior fontanel" EXACT [] synonym: "Late closure of soft spot on the skull" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Late closure of the bregma sutures" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Later than typical closing of soft spot of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Persistent anterior fontanelle" EXACT [] xref: SNOMEDCT_US:295091000119100 xref: UMLS:C3840083 xref: UMLS:C4072831 is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000270 ! Delayed cranial suture closure [Term] id: HP:0001477 name: Compensatory chin elevation def: "A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement." [https://orcid.org/0000-0002-0736-9199] synonym: "Compensatory head tilt/chin elevation" EXACT [] xref: UMLS:C1846911 is_a: HP:0031705 ! Compensatory head posture [Term] id: HP:0001480 name: Freckling def: "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] synonym: "Freckling" EXACT layperson [] xref: MSH:D008548 xref: SNOMEDCT_US:403536009 xref: SNOMEDCT_US:699225003 xref: UMLS:C0016689 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001482 name: Subcutaneous nodule alt_id: HP:0005903 def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [https://orcid.org/0000-0002-0736-9199] comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. subset: hposlim_core synonym: "Firm lump under the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Growth of abnormal tissue under the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Multiple, subcutaneous nodules" RELATED [] synonym: "Nodule below the skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subcutaneous nodules" RELATED plural_form [] xref: SNOMEDCT_US:95325000 xref: UMLS:C0151811 xref: UMLS:C0746926 is_a: HP:0200036 ! Skin nodule [Term] id: HP:0001483 name: Eye poking def: "Repetitive pressing, poking, and/or rubbing in the eyes." [PMID:8157154] comment: Eye poking is usually observed in children with an intellectual and visual handicap. synonym: "Blindism" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Eye pressing" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Ocular auto-stimulation" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] synonym: "Oculodigital phenomenon" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:78894008 xref: UMLS:C0233593 is_a: HP:0100716 ! Self-injurious behavior is_a: HP:5200017 ! Abnormal movements of face and head is_a: HP:5200065 ! Tactile sensory seeking property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001487 name: obsolete Hypopigmented fundi is_obsolete: true replaced_by: HP:0007894 [Term] id: HP:0001488 name: Bilateral ptosis synonym: "Drooping of both upper eyelids" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1865916 is_a: HP:0000508 ! Ptosis [Term] id: HP:0001489 name: Posterior vitreous detachment def: "Separation of the vitreous humor from the retina." [https://orcid.org/0000-0002-0736-9199, PMID:24376338] comment: The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. synonym: "Vitreous detachment" EXACT [] xref: MSH:D020255 xref: SNOMEDCT_US:247081001 xref: UMLS:C0423361 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0001491 name: Congenital fibrosis of extraocular muscles def: "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "CFEOM" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "Congenital fibrosis of the extraocular muscles" EXACT [] synonym: "Congenital ophthalmoplegia" EXACT [http://www.omim.org/entry/135700, https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:C580012 xref: SNOMEDCT_US:400946004 xref: UMLS:C1302995 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0001492 name: Axenfeld anomaly def: "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MSH:C535679 xref: SNOMEDCT_US:204152008 xref: UMLS:C0266548 is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0001493 name: Falciform retinal fold alt_id: HP:0008013 def: "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "Congenital retinal fold" EXACT [] xref: SNOMEDCT_US:204181009 xref: UMLS:C0344550 is_a: HP:0008052 ! Retinal fold [Term] id: HP:0001495 name: Carpal osteolysis def: "Osteolysis affecting carpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Carpal bone osteolysis" EXACT [] xref: UMLS:C1833734 is_a: HP:0001191 ! Abnormal carpal morphology is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs [Term] id: HP:0001498 name: Carpal bone hypoplasia alt_id: HP:0001209 alt_id: HP:0006029 alt_id: HP:0006072 alt_id: HP:0006117 alt_id: HP:0006130 alt_id: HP:0006227 def: "Underdevelopment of one or more carpal bones." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Hypoplasia of carpal bones" EXACT [] synonym: "Hypoplastic carpal bones" EXACT [] synonym: "Small carpal bones" EXACT layperson [] synonym: "Small carpals" EXACT layperson [] synonym: "Small wrist bones" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1863749 xref: UMLS:C4280594 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0001500 name: Broad finger alt_id: HP:0001497 def: "Increased width of a non-thumb digit of the hand." [PMID:19125433] comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". subset: hposlim_core synonym: "Broad finger" EXACT layperson [] synonym: "Broad fingers" EXACT layperson [] synonym: "Wide fingers" EXACT layperson [] xref: UMLS:C1844906 is_a: HP:0001167 ! Abnormal finger morphology [Term] id: HP:0001501 name: 6 metacarpals synonym: "6 long bones of hand" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1861360 is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0001504 name: Metacarpal osteolysis synonym: "Metacarpals osteolysis" EXACT [] xref: UMLS:C1854610 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs [Term] id: HP:0001507 name: Growth abnormality alt_id: HP:0008904 synonym: "Abnormal growth" EXACT layperson [] synonym: "Growth abnormality" EXACT layperson [] synonym: "Growth issue" EXACT layperson [] xref: UMLS:C0262361 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001508 name: Failure to thrive alt_id: HP:0001535 alt_id: HP:0008853 alt_id: HP:0008878 alt_id: HP:0008916 def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [https://orcid.org/0000-0002-0736-9199] comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). synonym: "Faltering weight" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Poor weight gain" RELATED layperson [] synonym: "Postnatal failure to thrive" EXACT [] synonym: "Undergrowth" BROAD layperson [] synonym: "Weight faltering" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:36440009 xref: SNOMEDCT_US:432788009 xref: UMLS:C0231246 xref: UMLS:C2315100 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001510 name: Growth delay alt_id: HP:0001434 alt_id: HP:0001512 alt_id: HP:0001514 alt_id: HP:0001517 alt_id: HP:0001532 alt_id: HP:0008847 alt_id: HP:0008870 alt_id: HP:0008886 alt_id: HP:0008893 alt_id: HP:0008926 def: "A deficiency or slowing down of growth pre- and postnatally." [https://orcid.org/0000-0002-0736-9199] comment: Poor or abnormally slow gains in weight or height in a child. synonym: "Delayed growth" EXACT layperson [] synonym: "Growth deficiency" EXACT layperson [] synonym: "Growth delay" EXACT layperson [] synonym: "Growth failure" EXACT layperson [] synonym: "Growth retardation" EXACT layperson [] synonym: "Poor growth" EXACT layperson [] synonym: "Retarded growth" EXACT layperson [] synonym: "Very poor growth" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:276617005 xref: SNOMEDCT_US:444896005 xref: SNOMEDCT_US:59576002 xref: UMLS:C0151686 xref: UMLS:C0456070 xref: UMLS:C0878787 xref: UMLS:C1837385 xref: UMLS:C3552463 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001511 name: Intrauterine growth retardation alt_id: HP:0001515 alt_id: HP:0008862 alt_id: HP:0008892 alt_id: HP:0008931 def: "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [https://orcid.org/0000-0002-0736-9199] comment: Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. synonym: "In utero growth retardation" EXACT [] synonym: "Intrauterine growth failure" EXACT [] synonym: "Intrauterine growth restriction" EXACT [] synonym: "Intrauterine growth retardation, IUGR" EXACT [] synonym: "Intrauterine retardation" EXACT [] synonym: "IUGR" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "Prenatal growth deficiency" EXACT layperson [] synonym: "Prenatal growth failure" EXACT [] synonym: "Prenatal growth retardation" EXACT layperson [] synonym: "Prenatal onset growth retardation" EXACT [] synonym: "Prenatal-onset growth retardation" EXACT [] synonym: "Small for gestational age infant" EXACT [] xref: MSH:D005317 xref: MSH:D007236 xref: SNOMEDCT_US:199612005 xref: SNOMEDCT_US:22033007 xref: UMLS:C0015934 xref: UMLS:C0021296 xref: UMLS:C1386048 is_a: HP:0001510 ! Growth delay [Term] id: HP:0001513 name: Obesity def: "Accumulation of substantial excess body fat." [] synonym: "Having too much body fat" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Obesity" EXACT layperson [] xref: MSH:D009765 xref: SNOMEDCT_US:414915002 xref: SNOMEDCT_US:414916001 xref: UMLS:C0028754 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001518 name: Small for gestational age alt_id: HP:0001422 alt_id: HP:0008849 alt_id: HP:0008919 alt_id: HP:0008927 def: "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [https://orcid.org/0000-0002-6410-0882] synonym: "Birth weight less than 10th percentile" EXACT layperson [] synonym: "Low birth weight" EXACT layperson [] synonym: "Small for gestational age" EXACT layperson [] xref: MSH:D007230 xref: SNOMEDCT_US:267258002 xref: SNOMEDCT_US:276610007 xref: UMLS:C0024032 xref: UMLS:C0235991 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001519 name: Disproportionate tall stature alt_id: HP:0003511 alt_id: HP:0008864 def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6410-0882] synonym: "Dolichostenomelia" EXACT [] synonym: "Marfanoid body habitus" EXACT [] synonym: "Marfanoid habitus" EXACT [] synonym: "Reduced upper-lower segment ratio" EXACT [] xref: MSH:D054119 xref: SNOMEDCT_US:62250003 xref: UMLS:C0003706 xref: UMLS:C1836996 is_a: HP:0000098 ! Tall stature [Term] id: HP:0001520 name: Large for gestational age alt_id: HP:0001825 def: "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, https://orcid.org/0000-0002-0736-9199] comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. synonym: "Birth weight > 90th percentile" EXACT layperson [] synonym: "Birthweight > 90th percentile" EXACT layperson [] synonym: "Fetal macrosomia" EXACT [] synonym: "Foetal macrosomia" EXACT uk_spelling [] synonym: "Macrosomia" EXACT [] synonym: "Macrosomia, neonatal" EXACT [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1848395 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001522 name: Death in infancy alt_id: HP:0003816 alt_id: HP:0003817 alt_id: HP:0003818 alt_id: HP:0003823 alt_id: HP:0003827 def: "Death within the first 24 months of life." [https://orcid.org/0000-0002-0736-9199] synonym: "Death in early childhood" RELATED layperson [] synonym: "Death in infancy" EXACT layperson [] synonym: "Infantile death" EXACT layperson [] synonym: "Lethal in infancy" EXACT layperson [] xref: UMLS:C1844947 xref: UMLS:C1858430 is_a: HP:0011420 ! Age of death [Term] id: HP:0001525 name: Severe failure to thrive alt_id: HP:0008876 synonym: "Marked failure to thrive" EXACT [] synonym: "Severe faltering weight" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Severe postnatal failure to thrive" EXACT [] synonym: "Severe weight faltering" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1855514 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001528 name: Hemihypertrophy alt_id: HP:0006416 def: "Overgrowth of only one side of the body." [https://orcid.org/0000-0002-0736-9199] synonym: "Asymmetric limb hypertrophy" EXACT [] synonym: "Asymmetric overgrowth" EXACT layperson [] xref: SNOMEDCT_US:205838004 xref: SNOMEDCT_US:56007004 xref: UMLS:C0332890 is_a: HP:0040064 ! Abnormality of limbs is_a: HP:0100555 ! Asymmetric growth [Term] id: HP:0001530 name: Mild postnatal growth retardation alt_id: HP:0008860 alt_id: HP:0008917 def: "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms." [https://orcid.org/0000-0002-6410-0882] synonym: "Mild growth deficiency" RELATED layperson [] synonym: "Postnatal onset of mild growth retardation" EXACT [] xref: UMLS:C1835580 xref: UMLS:C3550204 is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0001531 name: Failure to thrive in infancy alt_id: HP:0008863 alt_id: HP:0008925 synonym: "Failure to thrive in first year of life" EXACT [] synonym: "Faltering weight in infancy" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Weight faltering in infancy" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1867873 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001533 name: Slender build alt_id: HP:0001529 def: "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [https://orcid.org/0000-0002-0736-9199] comment: Slender, long-limbed habitus. synonym: "Asthenic habitus" EXACT [] synonym: "Slender build" EXACT layperson [] synonym: "Thin body habitus" EXACT [] synonym: "Thin build" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1850573 is_a: HP:0000098 ! Tall stature is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001537 name: Umbilical hernia def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Umbilical hernias" EXACT [] xref: Fyler:4445 xref: SNOMEDCT_US:396347007 xref: UMLS:C0019322 is_a: HP:0001551 ! Abnormal umbilicus morphology is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001538 name: Protuberant abdomen def: "A thrusting or bulging out of the abdomen." [https://orcid.org/0000-0002-0736-9199] synonym: "Abdominal protuberance" EXACT [] synonym: "Belly sticks out" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Extended belly" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1854928 is_a: HP:0003270 ! Abdominal distention [Term] id: HP:0001539 name: Omphalocele def: "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Exomphalos" EXACT [] synonym: "Omphalocoele" EXACT [] xref: Fyler:4404 xref: MEDDRA:10030309 "Omphalocoele" xref: MSH:D006554 xref: SNOMEDCT_US:18735004 xref: UMLS:C0795690 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001540 name: Diastasis recti def: "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)." [https://orcid.org/0000-0002-0736-9199] comment: Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns. subset: hposlim_core synonym: "Gap between large left and right abdominal muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:62629000 xref: UMLS:C0221766 is_a: HP:0010991 ! Abnormal morphology of the abdominal musculature [Term] id: HP:0001541 name: Ascites def: "Accumulation of fluid in the peritoneal cavity." [https://orcid.org/0000-0002-0736-9199] comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. subset: hposlim_core synonym: "Accumulation of fluid in the abdomen" EXACT layperson [] xref: MSH:D001201 xref: SNOMEDCT_US:389026000 xref: UMLS:C0003962 is_a: HP:0001438 ! Abnormal abdomen morphology [Term] id: HP:0001543 name: Gastroschisis def: "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MEDDRA:10018046 "Gastroschisis" xref: MSH:D020139 xref: SNOMEDCT_US:72951007 xref: UMLS:C0265706 is_a: HP:0010866 ! Abdominal wall defect [Term] id: HP:0001544 name: Prominent umbilicus def: "Abnormally prominent umbilicus (belly button)." [https://orcid.org/0000-0002-0736-9199] synonym: "Prominent belly button" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Prominent navel" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837795 is_a: HP:0001551 ! Abnormal umbilicus morphology [Term] id: HP:0001545 name: Anteriorly placed anus def: "Anterior malposition of the anus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Anteriorly displaced anus" EXACT [] synonym: "Anus anteposition" EXACT [] xref: UMLS:C1838705 is_a: HP:0004397 ! Ectopic anus [Term] id: HP:0001547 name: Abnormal rib cage morphology def: "A morphological anomaly of the rib cage." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the rib cage" EXACT layperson [] xref: UMLS:C4025763 is_a: HP:0000765 ! Abnormal thorax morphology [Term] id: HP:0001548 name: Overgrowth def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [https://orcid.org/0000-0002-0736-9199] synonym: "General overgrowth" EXACT layperson [] synonym: "Generalised overgrowth" RELATED uk_spelling [] synonym: "Generalized overgrowth" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1849265 xref: UMLS:C1851731 xref: UMLS:C3150281 is_a: HP:0000098 ! Tall stature [Term] id: HP:0001549 name: Abnormal ileum morphology synonym: "Abnormality of the ileum" EXACT [] xref: UMLS:C4025762 is_a: HP:0002244 ! Abnormal small intestine morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:05:00Z [Term] id: HP:0001551 name: Abnormal umbilicus morphology def: "An abnormality of the structure or appearance of the umbilicus." [https://orcid.org/0000-0002-0736-9199] comment: The umbilicus is also known as the belly button or the navel. synonym: "Abnormal belly button" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal navel" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal umbilicus" EXACT [] xref: UMLS:C1849338 is_a: HP:0004298 ! Abnormality of the abdominal wall [Term] id: HP:0001552 name: Barrel-shaped chest alt_id: HP:0000781 alt_id: HP:0001553 def: "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis." [https://orcid.org/0000-0002-0736-9199] comment: Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease. subset: hposlim_core synonym: "Barrel chest" EXACT layperson [] synonym: "Barrel-shaped chest" EXACT layperson [] xref: SNOMEDCT_US:24228002 xref: UMLS:C0264172 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0001555 name: Asymmetry of the thorax def: "Lack of symmetry between the left and right halves of the thorax." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Asymmetric chest" EXACT layperson [] xref: UMLS:C1858033 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0001557 name: Prenatal movement abnormality alt_id: HP:0007629 def: "An abnormality of fetal movement." [https://orcid.org/0000-0002-0736-9199] comment: Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. synonym: "Abnormal intrauterine movements" EXACT [] xref: UMLS:C1849510 is_a: HP:0034059 ! Abnormal fetal physiology [Term] id: HP:0001558 name: Decreased fetal movement alt_id: HP:0001559 alt_id: HP:0006840 alt_id: HP:0007630 alt_id: HP:0007631 def: "An abnormal reduction in quantity or strength of fetal movements." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased fetal activity" EXACT [] synonym: "Decreased fetal movements" EXACT [] synonym: "Decreased foetal activity" EXACT uk_spelling [] synonym: "Decreased foetal movement" EXACT uk_spelling [] synonym: "Decreased foetal movements" EXACT uk_spelling [] synonym: "Decreased movement in utero" EXACT [] synonym: "Dminished fetal movement" EXACT [] synonym: "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: MSH:D006831 xref: SNOMEDCT_US:86203003 xref: UMLS:C0020224 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001562 name: Oligohydramnios alt_id: HP:0004638 def: "Diminished amniotic fluid volume in pregnancy." [https://orcid.org/0000-0002-0736-9199] comment: Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. synonym: "Decreased amniotic fluid index" RELATED [] synonym: "Low levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Maternal oligohydramnios" EXACT [] xref: MSH:D016104 xref: SNOMEDCT_US:59566000 xref: UMLS:C0079924 xref: UMLS:C3550658 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001563 name: Fetal polyuria def: "Abnormally increased production of urine by the fetus resulting in polyhydramnios." [https://orcid.org/0000-0002-0736-9199, PMID:21460147] comment: The fetal urine production rate can be measured by ultrasonography. synonym: "Foetal polyuria" EXACT uk_spelling [] xref: UMLS:C1865279 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001566 name: Widely-spaced maxillary central incisors alt_id: HP:0000669 alt_id: HP:0001570 alt_id: HP:0006300 alt_id: HP:0006324 def: "Increased distance between the maxillary central permanent incisor tooth." [https://orcid.org/0000-0002-9338-3017] synonym: "Central incisor gap" BROAD layperson [] synonym: "Diastasis of the central incisors" EXACT [] synonym: "Diastema between maxillary central incisors" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Diastema between upper front teeth" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Diastema between upper incisors" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Gap between upper front teeth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Separated superior central incisors" EXACT [] synonym: "Wide gap between upper central incisors" EXACT layperson [] synonym: "Wide upper central incisors" EXACT [] synonym: "Widely spaced upper incisors" EXACT layperson [] xref: UMLS:C1835762 xref: UMLS:C1845110 xref: UMLS:C4280252 is_a: HP:0006304 ! Widely-spaced incisors [Term] id: HP:0001571 name: Multiple impacted teeth def: "The presence of multiple impacted teeth." [https://orcid.org/0000-0002-9338-3017] synonym: "Impacted teeth" EXACT layperson [] synonym: "Multiple buried teeth" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Multiple impacted teeth" EXACT layperson [] synonym: "Multiple retained teeth" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839965 xref: UMLS:C4280593 is_a: HP:0011079 ! Impacted tooth [Term] id: HP:0001572 name: Macrodontia def: "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [https://orcid.org/0000-0002-9338-3017, PMID:19125428] comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. subset: hposlim_core synonym: "Hyperplasia of tooth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of tooth" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased width of tooth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Large tooth" EXACT layperson [] synonym: "Megalodontia" EXACT [] synonym: "Tooth mass excess" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:71485000 xref: UMLS:C0266036 xref: UMLS:C4280590 xref: UMLS:C4280591 xref: UMLS:C4280592 is_a: HP:0006482 ! 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: MSH:D009759 xref: SNOMEDCT_US:44526006 xref: SNOMEDCT_US:95783006 xref: UMLS:C0240595 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001586 name: Vesicovaginal fistula def: "The presence of a fistula connecting the urinary bladder to the vagina." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D014719 xref: SNOMEDCT_US:89405008 xref: UMLS:C0042582 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0004321 ! Bladder fistula [Term] id: HP:0001587 name: obsolete Primary ovarian failure is_obsolete: true [Term] id: HP:0001591 name: Bell-shaped thorax alt_id: HP:0006626 alt_id: HP:0006664 def: "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." [https://orcid.org/0000-0002-0736-9199] comment: A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. subset: hposlim_core synonym: "Bell-shaped chest" EXACT [] synonym: "Constricted, bell-shaped thorax" EXACT [] synonym: "Narrow, bell-shaped thorax" EXACT [] xref: UMLS:C1865186 is_a: HP:0001547 ! Abnormal rib cage morphology [Term] id: HP:0001592 name: Selective tooth agenesis def: "Agenesis specifically affecting one of the classes incisor, premolar, or molar." [https://orcid.org/0000-0002-9338-3017] synonym: "Absence of a tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Agenesis of a tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of a tooth" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Missing a tooth" RELATED layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1970308 xref: UMLS:C4280251 is_a: HP:0009804 ! Tooth agenesis [Term] id: HP:0001593 name: Maxillary lateral incisor microdontia def: "Decreased size of the maxillary permanent incisor." [https://orcid.org/0000-0002-9338-3017] synonym: "Decreased size of maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased size of upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of upper lateral incisor" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Hypotrophic upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Small maxillary lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] synonym: "Small upper lateral incisor" BROAD [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845111 xref: UMLS:C4280588 xref: UMLS:C4280589 is_a: HP:0000691 ! Microdontia is_a: HP:0011063 ! Abnormal incisor morphology [Term] id: HP:0001595 name: Abnormal hair morphology def: "An abnormality of the hair." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the hair" EXACT layperson [] synonym: "Abnormality of the hair shaft" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hair abnormality" EXACT layperson [] xref: UMLS:C0157733 xref: UMLS:C2677869 is_a: HP:0011138 ! 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: MSH:D000505 xref: SNOMEDCT_US:278040002 xref: SNOMEDCT_US:56317004 xref: UMLS:C0002170 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001597 name: Abnormality of the nail def: "Abnormality of the nail." [https://orcid.org/0000-0002-0736-9199] comment: Abnormality of the fingernails and/or toenails. synonym: "Abnormality of the nail" EXACT layperson [] synonym: "Nail disease" RELATED layperson [] xref: MSH:D009260 xref: MSH:D009264 xref: SNOMEDCT_US:17790008 xref: UMLS:C0027339 xref: UMLS:C0853087 is_a: HP:0011138 ! 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: MSH:D055092 xref: SNOMEDCT_US:38086007 xref: UMLS:C0264303 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001602 name: Laryngeal stenosis def: "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D007829 xref: SNOMEDCT_US:75547007 xref: UMLS:C0023075 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001604 name: Vocal cord paresis alt_id: HP:0001603 alt_id: HP:0001616 alt_id: HP:0008745 def: "Decreased strength of the vocal folds." [https://orcid.org/0000-0002-0736-9199] comment: Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat. synonym: "Hoarse voice due to vocal cord paresis" EXACT [] synonym: "Vocal cord paresis in severe cases" EXACT [] synonym: "Weakness of the vocal cords" EXACT layperson [] xref: MSH:D014826 xref: SNOMEDCT_US:302912005 xref: SNOMEDCT_US:445424004 xref: UMLS:C0751576 xref: UMLS:C1832690 xref: UMLS:C1843187 xref: UMLS:C1853729 is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0001605 name: Vocal cord paralysis alt_id: HP:0001606 alt_id: HP:0006847 def: "A loss of the ability to move the vocal folds." [https://orcid.org/0000-0002-0736-9199] comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. synonym: "Inability to move vocal cords" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Laryngeal paralysis" EXACT [] xref: MSH:D014826 xref: SNOMEDCT_US:302912005 xref: UMLS:C0042928 xref: UMLS:C1854345 is_a: HP:0003470 ! Paralysis is_a: HP:0031801 ! Vocal cord dysfunction [Term] id: HP:0001606 name: obsolete Vocal cord paralysis (caused by tumor impingement) is_obsolete: true replaced_by: HP:0001605 [Term] id: HP:0001607 name: Subglottic stenosis xref: SNOMEDCT_US:22668006 xref: UMLS:C0238441 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001608 name: Abnormality of the voice comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. synonym: "Abnormality of the voice" EXACT layperson [] synonym: "Voice abnormality" EXACT layperson [] xref: UMLS:C4021776 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001609 name: Hoarse voice alt_id: HP:0001613 alt_id: HP:0001619 def: "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [https://orcid.org/0000-0002-0736-9199] synonym: "Hoarse voice" EXACT layperson [] synonym: "Hoarseness" EXACT layperson [] synonym: "Husky voice" EXACT layperson [] xref: MSH:D006685 xref: SNOMEDCT_US:50219008 xref: UMLS:C0019825 xref: UMLS:C1854348 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001611 name: Hypernasal speech alt_id: HP:0001614 def: "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages." [] comment: May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. synonym: "Hypernasal voice" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Nasal speech" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Nasal voice" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:229645001 xref: SNOMEDCT_US:289190003 xref: UMLS:C0454555 xref: UMLS:C0566620 is_a: HP:0001608 ! Abnormality of the voice property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001612 name: Weak cry xref: SNOMEDCT_US:2120003 xref: UMLS:C0234860 is_a: HP:0025429 ! Abnormal cry [Term] id: HP:0001613 name: obsolete Hoarse voice (caused by tumor impingement) is_obsolete: true replaced_by: HP:0001609 [Term] id: HP:0001615 name: Hoarse cry synonym: "Hoarse cry" EXACT layperson [] xref: UMLS:C2678303 is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001618 name: Dysphonia def: "Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause." [] synonym: "Inability to produce voice sounds" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "Voice change" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: MSH:D055154 xref: SNOMEDCT_US:47004009 xref: UMLS:C1527344 is_a: HP:0001608 ! Abnormality of the voice property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001620 name: High pitched voice alt_id: HP:0001610 alt_id: HP:0008374 alt_id: HP:0008377 alt_id: HP:0008378 alt_id: HP:0008379 alt_id: HP:0009146 def: "An abnormal increase in the pitch (frequency) of the voice." [] synonym: "Abnormally high-pitched voice" EXACT [] synonym: "High pitched voice" EXACT layperson [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] synonym: "High-pitched voice" EXACT [https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-2592-4715, https://orcid.org/0000-0002-9593-5508, https://orcid.org/0000-0003-3777-1389] xref: SNOMEDCT_US:51406002 xref: UMLS:C0241703 is_a: HP:5200005 ! Abnormal pitch property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0001621 name: Weak voice def: "Reduced intensity (volume) of speech." [https://orcid.org/0000-0002-0736-9199] comment: Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization. synonym: "Hypophonia" RELATED [] synonym: "Quiet voice" EXACT [] synonym: "Soft voice" EXACT layperson [] synonym: "Weak voice" EXACT layperson [] xref: MSH:D014832 xref: SNOMEDCT_US:34527004 xref: SNOMEDCT_US:8614008 xref: UMLS:C0241700 xref: UMLS:C0521007 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001622 name: Premature birth def: "The birth of a baby of less than 37 weeks of gestational age." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature birth" EXACT layperson [] synonym: "Premature delivery" EXACT [] synonym: "Premature delivery of affected infants" EXACT layperson [] synonym: "Preterm birth" EXACT [] synonym: "Preterm delivery" EXACT layperson [] synonym: "Shortened gestation time" EXACT [] xref: MSH:D047928 xref: SNOMEDCT_US:282020008 xref: SNOMEDCT_US:367494004 xref: SNOMEDCT_US:49550006 xref: UMLS:C0151526 xref: UMLS:C0233315 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001623 name: Breech presentation def: "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [https://orcid.org/0000-0002-0736-9199] synonym: "Breech presentation at birth" EXACT [] synonym: "Feet or buttocks of fetus positioned near opening of uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Feet or buttocks of foetus positioned near opening of uterus" EXACT uk_spelling [] xref: MSH:D001946 xref: SNOMEDCT_US:249101006 xref: SNOMEDCT_US:6096002 xref: UMLS:C0006157 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001626 name: Abnormality of the cardiovascular system alt_id: HP:0003116 def: "Any abnormality of the cardiovascular system." [https://orcid.org/0000-0002-0736-9199] comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system. synonym: "Abnormality of the cardiovascular system" EXACT layperson [] synonym: "Cardiovascular abnormality" EXACT layperson [] synonym: "Cardiovascular disease" RELATED layperson [] xref: MSH:D002318 xref: MSH:D018376 xref: SNOMEDCT_US:49601007 xref: UMLS:C0007222 xref: UMLS:C0243050 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001627 name: Abnormal heart morphology alt_id: HP:3000001 def: "Any structural anomaly of the heart." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cardiac morphology" EXACT [] synonym: "Abnormality of the heart" EXACT layperson [] synonym: "Abnormally shaped heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cardiac abnormality" EXACT [] synonym: "Cardiac anomalies" EXACT [] synonym: "Cardiac anomaly" EXACT [] synonym: "Congenital heart defect" EXACT [] synonym: "Congenital heart defects" EXACT [] synonym: "Heart defect" EXACT layperson [] xref: MSH:D006330 xref: SNOMEDCT_US:13213009 xref: UMLS:C0018798 xref: UMLS:C0152021 is_a: HP:0030680 ! 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: MSH:D006345 xref: SNOMEDCT_US:253549006 xref: SNOMEDCT_US:30288003 xref: UMLS:C0018818 is_a: HP:0010438 ! Abnormal ventricular septum morphology [Term] id: HP:0001631 name: Atrial septal defect alt_id: HP:0001630 def: "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "An opening in the wall separating the top two chambers of the heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "ASD" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "Atria septal defect" EXACT [] synonym: "Atrial septum defect" EXACT [] synonym: "Atrioseptal defect" EXACT [] synonym: "Defect in the atrial septum" EXACT [] synonym: "Hole in heart wall separating two upper heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: Fyler:2050 xref: ICD-10:Q21.1 xref: MSH:D006344 xref: SNOMEDCT_US:253366007 xref: SNOMEDCT_US:405752007 xref: SNOMEDCT_US:70142008 xref: UMLS:C0018817 is_a: HP:0005120 ! Abnormal cardiac atrium morphology is_a: HP:0011994 ! Abnormal atrial septum morphology [Term] id: HP:0001633 name: Abnormal mitral valve morphology alt_id: HP:0031477 def: "Any structural anomaly of the mitral valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the mitral valve" EXACT [] xref: UMLS:C4025759 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology [Term] id: HP:0001634 name: Mitral valve prolapse def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [https://orcid.org/0000-0002-0736-9199] comment: Mitral valve prolapse can be associated with mitral regurgitation. xref: Fyler:1533 xref: MSH:D008945 xref: SNOMEDCT_US:409712001 xref: SNOMEDCT_US:8074002 xref: UMLS:C0026267 is_a: HP:0001633 ! Abnormal mitral valve morphology [Term] id: HP:0001635 name: Congestive heart failure alt_id: HP:0006686 def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [https://orcid.org/0000-0002-0736-9199] synonym: "Cardiac failure" EXACT layperson [] synonym: "Cardiac failures" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Cardiac insufficiency" EXACT [] synonym: "CHF" EXACT abbreviation [] synonym: "Chronic heart failure" EXACT [] synonym: "Heart failure" EXACT layperson [] xref: MSH:D006333 xref: SNOMEDCT_US:42343007 xref: SNOMEDCT_US:84114007 xref: UMLS:C0018801 xref: UMLS:C0018802 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0001636 name: Tetralogy of Fallot def: "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [https://orcid.org/0000-0002-0736-9199] synonym: "Tetrology of fallot" EXACT [] xref: ICD-10:Q21.3 xref: MSH:D013771 xref: SNOMEDCT_US:86299006 xref: UMLS:C0039685 is_a: HP:0001710 ! Conotruncal defect [Term] id: HP:0001637 name: Abnormal myocardium morphology def: "A structural anomaly of the muscle layer of the heart wall." [] synonym: "Abnormality of the myocardium" EXACT [] xref: UMLS:C4025758 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001638 name: Cardiomyopathy def: "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [https://orcid.org/0000-0002-0736-9199, PMID:17916581] synonym: "Disease of the heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:1840 xref: MSH:D009202 xref: SNOMEDCT_US:57809008 xref: SNOMEDCT_US:85898001 xref: UMLS:C0878544 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001639 name: Hypertrophic cardiomyopathy def: "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality." [PMID:17916581] synonym: "Cardiomyopathy, hypertrophic" EXACT [] synonym: "Enlarged and thickened heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "HCM" EXACT abbreviation [] xref: MSH:D002312 xref: SNOMEDCT_US:233873004 xref: SNOMEDCT_US:45227007 xref: UMLS:C0007194 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001640 name: Cardiomegaly def: "Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography." [https://orcid.org/0000-0002-0736-9199, PMID:31194436] synonym: "Enlarged heart" EXACT layperson [] synonym: "Increased heart size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006332 xref: SNOMEDCT_US:8186001 xref: UMLS:C0018800 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001641 name: Abnormal pulmonary valve morphology def: "Any structural abnormality of the pulmonary valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pulmonary valve" EXACT [] synonym: "Anomaly of the pulmonary valve" EXACT [] xref: Fyler:1600 xref: Fyler:1602 xref: SNOMEDCT_US:448643005 xref: UMLS:C3164374 is_a: HP:0001654 ! Abnormal heart valve morphology [Term] id: HP:0001642 name: Pulmonic stenosis def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis)." [https://orcid.org/0000-0002-0736-9199] comment: Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. synonym: "Narrowing of pulmonic valve" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] xref: Fyler:1611 xref: MSH:D011666 xref: SNOMEDCT_US:56786000 xref: UMLS:C1956257 is_a: HP:0031654 ! Abnormal pulmonary valve physiology [Term] id: HP:0001643 name: Patent ductus arteriosus def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [https://orcid.org/0000-0002-0736-9199, PMID:20421261] synonym: "Ductus arteriosus" EXACT [] synonym: "Patent ductus Botalli" EXACT [] synonym: "PDA" EXACT abbreviation [] synonym: "Persistent arterial duct" EXACT [] synonym: "Persistent ductus arteriosus" EXACT [] xref: Fyler:2100 xref: MSH:D004374 xref: SNOMEDCT_US:83330001 xref: UMLS:C0013274 is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001644 name: Dilated cardiomyopathy alt_id: HP:0001725 alt_id: HP:0005159 alt_id: HP:0200130 def: "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [PMID:17916581] synonym: "Cardiomyopathy, dilated" EXACT [] synonym: "Congestive cardiomyopathy" EXACT [] synonym: "DCM" EXACT abbreviation [] synonym: "Stretched and thinned heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:1843 xref: MSH:D002311 xref: SNOMEDCT_US:195021004 xref: SNOMEDCT_US:399020009 xref: UMLS:C0007193 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001645 name: Sudden cardiac death alt_id: HP:0005161 def: "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [https://orcid.org/0000-0002-0736-9199] synonym: "Premature sudden cardiac death" EXACT layperson [] synonym: "Sudden cardiac death" EXACT layperson [] xref: MSH:D016757 xref: SNOMEDCT_US:95281009 xref: UMLS:C0085298 is_a: HP:0001695 ! Cardiac arrest is_a: HP:0001699 ! Sudden death [Term] id: HP:0001646 name: Abnormal aortic valve morphology def: "Any abnormality of the aortic valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the aortic valve" EXACT [] xref: Fyler:1400 xref: Fyler:1408 xref: SNOMEDCT_US:448743001 xref: UMLS:C3164445 is_a: HP:0001654 ! Abnormal heart valve morphology [Term] id: HP:0001647 name: Bicuspid aortic valve def: "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)." [https://orcid.org/0000-0002-0736-9199, PMID:17467434, PMID:24827036] comment: A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. synonym: "Aortic valve has two leaflets rather than three" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:C562388 xref: SNOMEDCT_US:72352009 xref: UMLS:C0149630 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology [Term] id: HP:0001648 name: Cor pulmonale def: "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle." [https://orcid.org/0000-0002-0736-9199] comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. xref: MSH:D011660 xref: SNOMEDCT_US:274096000 xref: SNOMEDCT_US:83291003 xref: UMLS:C0034072 is_a: HP:0001707 ! Abnormal right ventricle morphology [Term] id: HP:0001649 name: Tachycardia alt_id: HP:0001673 alt_id: HP:0001720 def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated heart rate" RELATED layperson [] synonym: "Fast heart rate" EXACT layperson [] synonym: "Heart racing" EXACT layperson [] synonym: "Increased heart rate" RELATED layperson [] synonym: "Racing heart" EXACT layperson [] synonym: "Rapid heart beat" RELATED layperson [] xref: MSH:D013610 xref: SNOMEDCT_US:3424008 xref: SNOMEDCT_US:86651002 xref: UMLS:C0039231 xref: UMLS:C4020868 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001650 name: Aortic valve stenosis alt_id: HP:0005140 def: "The presence of a stenosis (narrowing) of the aortic valve." [https://orcid.org/0000-0002-0736-9199] comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. synonym: "Aortic stenosis" EXACT [] synonym: "Narrowing of aortic valve" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Valvular aortic stenosis" EXACT [] xref: Fyler:1411 xref: MSH:D001024 xref: SNOMEDCT_US:60573004 xref: UMLS:C0003507 is_a: HP:0031652 ! Abnormal aortic valve physiology [Term] id: HP:0001651 name: Dextrocardia def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0009-0006-4530-3154] synonym: "Heart tip and four chambers point towards right side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Thoracic situs inversus" EXACT [] xref: EPCC:02.01.02 xref: Fyler:0110 xref: Fyler:110 xref: ICD-10:Q24.0 xref: MSH:D003914 xref: SNOMEDCT_US:27637000 xref: UMLS:C0011813 is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001653 name: Mitral regurgitation def: "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [https://orcid.org/0000-0002-0736-9199] synonym: "Mitral incompetence" EXACT [] synonym: "Mitral insufficiency" EXACT [] synonym: "Mitral regurgitation, mild" RELATED [] synonym: "Mitral valve insufficiency" EXACT [] synonym: "Mitral valve regurgitation" EXACT [] xref: Fyler:1151 xref: MSH:D008944 xref: SNOMEDCT_US:48724000 xref: UMLS:C0026266 xref: UMLS:C3551535 is_a: HP:0031481 ! Abnormal mitral valve physiology is_a: HP:0034376 ! Atrioventricular valve regurgitation [Term] id: HP:0001654 name: Abnormal heart valve morphology alt_id: HP:0001703 def: "Any structural abnormality of a cardiac valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the heart valves" EXACT [] synonym: "Valvular abnormality" EXACT [] synonym: "Valvular heart disease" RELATED [] xref: MSH:D006349 xref: SNOMEDCT_US:368009 xref: UMLS:C0018824 xref: UMLS:C0241654 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001655 name: Patent foramen ovale def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. synonym: "Persistent foramen ovale" EXACT [] xref: Fyler:2020 xref: ICD-10:Q21.1 xref: MSH:D054092 xref: SNOMEDCT_US:204317008 xref: UMLS:C0016522 is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001657 name: Prolonged QT interval def: "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [https://orcid.org/0000-0002-0736-9199] comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles. synonym: "Long Q-T syndrome" RELATED [] synonym: "Long QT syndrome" EXACT [] synonym: "Prolong qt interval on ekg" EXACT [] xref: SNOMEDCT_US:111975006 xref: UMLS:C0151878 is_a: HP:0031547 ! Abnormal QT interval [Term] id: HP:0001658 name: Myocardial infarction def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [https://orcid.org/0000-0002-0736-9199] synonym: "Heart attack" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "MI" EXACT abbreviation [] xref: MSH:D009203 xref: SNOMEDCT_US:22298006 xref: UMLS:C0027051 is_a: HP:0033678 ! Acute coronary syndrome [Term] id: HP:0001659 name: Aortic regurgitation def: "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Aortic insufficiency" EXACT [] synonym: "Aortic valve regurgitation" EXACT [] xref: MSH:D001022 xref: SNOMEDCT_US:60234000 xref: UMLS:C0003504 is_a: HP:0031652 ! Abnormal aortic valve physiology [Term] id: HP:0001660 name: Truncus arteriosus def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Common arterial trunk" EXACT [] synonym: "Persistant truncus arteriosus" RELATED [] xref: Fyler:0500 xref: Fyler:500 xref: ICD-10:Q20.0 xref: MSH:D014338 xref: SNOMEDCT_US:58140002 xref: UMLS:C0041206 xref: UMLS:C4020867 is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001662 name: Bradycardia def: "A slower than normal heart rate (in adults, slower than 60 beats per minute)." [https://orcid.org/0000-0002-0736-9199] synonym: "Brachycardia" EXACT [] synonym: "Slow heartbeats" EXACT layperson [] xref: MSH:D001919 xref: SNOMEDCT_US:48867003 xref: UMLS:C0428977 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001663 name: Ventricular fibrillation alt_id: HP:0005166 def: "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D014693 xref: SNOMEDCT_US:71908006 xref: UMLS:C0042510 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001664 name: Torsade de pointes def: "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [https://orcid.org/0000-0002-0736-9199] synonym: "Torsades de pointes" EXACT [] xref: MSH:D016171 xref: SNOMEDCT_US:31722008 xref: UMLS:C0040479 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001667 name: Right ventricular hypertrophy def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Heart right ventricle hypertrophy" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:3609 xref: MSH:D017380 xref: SNOMEDCT_US:89792004 xref: UMLS:C0162770 is_a: HP:0001707 ! Abnormal right ventricle morphology is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001669 name: Transposition of the great arteries def: "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, https://orcid.org/0000-0002-0736-9199, PMID:10798431] synonym: "Transposition of great vessels" EXACT [] xref: SNOMEDCT_US:204296002 xref: SNOMEDCT_US:26146002 xref: UMLS:C3536741 is_a: HP:0011563 ! Abnormal ventriculoarterial connection is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001670 name: Asymmetric septal hypertrophy def: "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray." [https://orcid.org/0000-0002-0736-9199, PMID:17916581] xref: UMLS:C0205700 is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0001671 name: Abnormal cardiac septum morphology alt_id: HP:0001690 alt_id: HP:0004760 def: "An anomaly of the intra-atrial or intraventricular septum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cardiac septa" EXACT [] synonym: "Heart septal defect" EXACT [] synonym: "Septal defects" EXACT plural_form [] xref: MSH:D006343 xref: SNOMEDCT_US:253273004 xref: SNOMEDCT_US:396351009 xref: SNOMEDCT_US:59494005 xref: UMLS:C0018816 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001673 name: obsolete Tachycardia (with pheochromocytoma) is_obsolete: true replaced_by: HP:0001649 [Term] id: HP:0001674 name: Complete atrioventricular canal defect alt_id: HP:0001689 alt_id: HP:0006697 def: "A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:16722604] comment: The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. synonym: "Atrioventricular canal" EXACT [] synonym: "Common atrioventricular canal" EXACT [] synonym: "Complete atrioventricular septal defect" EXACT [] synonym: "Complete common AV canal" EXACT [] xref: Fyler:1120 is_a: HP:0006695 ! Atrioventricular canal defect [Term] id: HP:0001675 name: obsolete Rhythm disturbances associated with pheochromocytoma is_obsolete: true replaced_by: HP:0011675 [Term] id: HP:0001676 name: obsolete Palpitations (with pheochromocytoma) is_obsolete: true replaced_by: HP:0001962 [Term] id: HP:0001677 name: Coronary artery atherosclerosis alt_id: HP:0004929 alt_id: HP:0005138 def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia." [https://orcid.org/0000-0002-0736-9199, PMID:31420554] comment: Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. synonym: "Coronary atherosclerosis" EXACT [] synonym: "Coronary disease" EXACT [] synonym: "Plaque build-up in arteries supplying blood to heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D003324 xref: SNOMEDCT_US:414024009 xref: SNOMEDCT_US:53741008 xref: UMLS:C1956346 is_a: HP:0002621 ! Atherosclerosis is_a: HP:0006704 ! Abnormal coronary artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001678 name: Atrioventricular block alt_id: HP:0001668 alt_id: HP:0005142 alt_id: HP:0006672 def: "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles." [https://orcid.org/0000-0002-0736-9199] synonym: "Atrioventricular nodal disease" RELATED [] synonym: "Interruption of electrical communication between upper and lower chambers of heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D054537 xref: SNOMEDCT_US:233917008 xref: UMLS:C0004245 xref: UMLS:C1841659 is_a: HP:0005150 ! Abnormal atrioventricular conduction is_a: HP:0012722 ! Heart block [Term] id: HP:0001679 name: Abnormal aortic morphology alt_id: HP:0030963 def: "An abnormality of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:24910511] synonym: "Abnormal aorta morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the aorta" EXACT [] xref: Fyler:1453 xref: UMLS:C4025756 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0030962 ! Abnormal morphology of the great vessels [Term] id: HP:0001680 name: Coarctation of aorta def: "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta." [https://orcid.org/0000-0002-0736-9199, PMID:23909637] comment: Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient. synonym: "Aortic coarctation" EXACT [] synonym: "Coarctation of the aorta" EXACT [] synonym: "Narrowing of aorta" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Narrowing of the aorta" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D001017 xref: SNOMEDCT_US:7305005 xref: UMLS:C0003492 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0001681 name: Angina pectoris def: "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D000787 xref: SNOMEDCT_US:194828000 xref: SNOMEDCT_US:225566008 xref: UMLS:C0002962 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0001682 name: Subvalvular aortic stenosis def: "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve." [https://orcid.org/0000-0002-0736-9199] comment: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. synonym: "Narrowing of blood vessel below aortic heart valve" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Subaortic stenosis" EXACT [] xref: MSH:D001020 xref: SNOMEDCT_US:204368006 xref: UMLS:C0340375 is_a: HP:0011103 ! Abnormal left ventricular outflow tract morphology [Term] id: HP:0001683 name: Ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall." [HPO_CONTRIBUTOR:DDD_dbrown] comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). xref: Fyler:0170 xref: Fyler:170 xref: MSH:D054083 xref: SNOMEDCT_US:78250005 xref: UMLS:C0013580 is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001684 name: Secundum atrial septal defect alt_id: HP:0200131 def: "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "Atrial septal defect, ostium secundum type" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Ostium secundum atrial septal defect" EXACT [] synonym: "Patent ostium secundum" EXACT [] xref: Fyler:2000 xref: ICD-10:Q21.1 xref: MSH:D006344 xref: SNOMEDCT_US:204315000 xref: UMLS:C0344724 is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001685 name: Myocardial fibrosis def: "Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts." [PMID:28157267] comment: Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. xref: UMLS:C0151654 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001686 name: Loss of voice synonym: "Aphonia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:D001044 xref: SNOMEDCT_US:441913003 xref: SNOMEDCT_US:44564008 xref: UMLS:C0003564 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001688 name: Sinus bradycardia alt_id: HP:0005137 def: "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:7013 xref: SNOMEDCT_US:49710005 xref: UMLS:C0085610 is_a: HP:0001662 ! Bradycardia is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin [Term] id: HP:0001691 name: Muscular subvalvular aortic stenosis def: "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Muscular subaortic stenosis" EXACT [] xref: UMLS:C3887554 is_a: HP:0001682 ! Subvalvular aortic stenosis [Term] id: HP:0001692 name: Atrial arrhythmia def: "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Primary atrial arrhythmia" RELATED [] xref: SNOMEDCT_US:17366009 xref: UMLS:C0085611 xref: UMLS:C4025755 is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0001693 name: Cardiac shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:442119001 xref: UMLS:C0232180 is_a: HP:0011028 ! Abnormality of blood circulation [Term] id: HP:0001694 name: Right-to-left shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left." [https://orcid.org/0000-0001-9114-8737] xref: SNOMEDCT_US:79692001 xref: UMLS:C0428871 is_a: HP:0001693 ! Cardiac shunt [Term] id: HP:0001695 name: Cardiac arrest def: "An abrupt loss of heart function." [] synonym: "Heart stops beating" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D006323 xref: SNOMEDCT_US:397829000 xref: SNOMEDCT_US:410429000 xref: UMLS:C0018790 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001696 name: Situs inversus totalis def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] synonym: "All organs on wrong side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Situs inversus" RELATED [] synonym: "situs oppositus" EXACT [] synonym: "situs transversus" EXACT [] xref: Fyler:0100 xref: Fyler:100 xref: MSH:D012857 xref: MSH:D059446 xref: SNOMEDCT_US:14821001 xref: SNOMEDCT_US:24614000 xref: SNOMEDCT_US:27317008 xref: SNOMEDCT_US:43876007 xref: UMLS:C0037221 xref: UMLS:C0266642 is_a: HP:0001651 ! Dextrocardia is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments [Term] id: HP:0001697 name: Abnormal pericardium morphology def: "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pericardium" EXACT [] xref: Fyler:1900 xref: UMLS:C4025754 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001698 name: Pericardial effusion def: "Accumulation of fluid within the pericardium." [https://orcid.org/0000-0002-0736-9199] synonym: "Fluid around heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pericardial effusions" EXACT [] xref: Fyler:1940 xref: MSH:D010490 xref: SNOMEDCT_US:373945007 xref: UMLS:C0031039 is_a: HP:0001697 ! Abnormal pericardium morphology [Term] id: HP:0001699 name: Sudden death def: "Rapid and unexpected death." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D003645 xref: SNOMEDCT_US:26636000 xref: UMLS:C0011071 is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0001700 name: Myocardial necrosis def: "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction)." [PMID:20405318] xref: SNOMEDCT_US:251061000 xref: UMLS:C1442837 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001701 name: Pericarditis def: "Inflammation of the sac-like covering around the heart (pericardium)." [https://orcid.org/0000-0002-0736-9199] synonym: "Swelling or irritation of membrane around heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D010493 xref: SNOMEDCT_US:3238004 xref: UMLS:C0031046 is_a: HP:0001697 ! Abnormal pericardium morphology is_a: HP:0045073 ! Serositis [Term] id: HP:0001702 name: Abnormal tricuspid valve morphology alt_id: HP:0031440 def: "Any structural anomaly of the tricuspid valve." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the tricuspid valve" EXACT [] xref: EPCC:06.01.00 xref: UMLS:C4025753 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology [Term] id: HP:0001704 name: Tricuspid valve prolapse def: "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:1733 xref: MSH:D014263 xref: SNOMEDCT_US:253383003 xref: UMLS:C0040962 is_a: HP:0001702 ! Abnormal tricuspid valve morphology [Term] id: HP:0001705 name: Right ventricular outlet tract obstruction def: "An obstruction to the forward flow of blood in the outflow tract of the right ventricle." [PMID:30038501] synonym: "Right ventricular outlet obstruction" EXACT [] xref: MSH:D014694 xref: UMLS:C0035619 is_a: HP:0033118 ! Abnormal right ventricular function [Term] id: HP:0001706 name: Endocardial fibroelastosis def: "Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction" [PMID:23109776] xref: MSH:D004695 xref: SNOMEDCT_US:65457005 xref: UMLS:C0014117 is_a: HP:0004306 ! Abnormal endocardium morphology [Term] id: HP:0001707 name: Abnormal right ventricle morphology def: "An abnormality of the right ventricle of the heart." [https://orcid.org/0000-0002-0736-9199] comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. synonym: "Abnormality of the right ventricle" EXACT [] synonym: "Right ventricular abnormality" EXACT [] xref: Fyler:1820 xref: SNOMEDCT_US:253516002 xref: UMLS:C0344887 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001708 name: Right ventricular failure def: "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly." [https://orcid.org/0000-0002-0736-9199] synonym: "Impaired right ventricular function" EXACT [] synonym: "Right ventricular impairment" EXACT [] synonym: "Right-sided heart failure" EXACT [] xref: MSH:D006333 xref: SNOMEDCT_US:128404006 xref: SNOMEDCT_US:367363000 xref: UMLS:C0235527 xref: UMLS:C2939447 is_a: HP:0033118 ! Abnormal right ventricular function [Term] id: HP:0001709 name: Third degree atrioventricular block def: "Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them." [PMID:21841933] synonym: "Complete heart block" EXACT layperson [] synonym: "Third-degree heart block" RELATED [] xref: SNOMEDCT_US:27885002 xref: UMLS:C0151517 is_a: HP:0001678 ! Atrioventricular block [Term] id: HP:0001710 name: Conotruncal defect def: "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Conotruncal heart defects" EXACT [] xref: UMLS:C1853238 is_a: HP:0011563 ! Abnormal ventriculoarterial connection is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001711 name: Abnormal left ventricle morphology def: "Any structural abnormality of the left ventricle of the heart." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal heart left ventricle morphology" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the left ventricle" EXACT [] synonym: "Left ventricular abnormality" EXACT [] xref: Fyler:1810 xref: SNOMEDCT_US:253535002 xref: UMLS:C0344905 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001712 name: Left ventricular hypertrophy alt_id: HP:0005171 def: "Enlargement or increased size of the heart left ventricle." [MP:0002625] synonym: "Heart left ventricle hypertrophy" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Left ventricular wall hypertrophy" EXACT [] xref: Fyler:3608 xref: MSH:D017379 xref: SNOMEDCT_US:55827005 xref: UMLS:C0149721 is_a: HP:0001711 ! Abnormal left ventricle morphology is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001713 name: Abnormal cardiac ventricle morphology def: "An abnormality of a cardiac ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of cardiac ventricle" EXACT [] xref: UMLS:C4025752 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001714 name: Ventricular hypertrophy alt_id: HP:0005167 def: "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:266249003 xref: UMLS:C0340279 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001716 name: Wolff-Parkinson-White syndrome def: "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D014927 xref: SNOMEDCT_US:74390002 xref: UMLS:C0043202 is_a: HP:0004309 ! Ventricular preexcitation [Term] id: HP:0001717 name: Coronary artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:445512009 xref: UMLS:C1611184 is_a: HP:0003207 ! Arterial calcification is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0001718 name: Mitral stenosis alt_id: HP:0005163 def: "An abnormal narrowing of the orifice of the mitral valve." [HPO_CONTRIBUTOR:DDD_dbrown] synonym: "Mitral valve stenosis" EXACT [] xref: EPCC:06.02.92 xref: Fyler:1511 xref: ICD-10:Q23.2 xref: MSH:D008946 xref: SNOMEDCT_US:79619009 xref: UMLS:C0026269 is_a: HP:0031481 ! Abnormal mitral valve physiology [Term] id: HP:0001719 name: Double outlet right ventricle def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [https://orcid.org/0000-0002-0736-9199, PMID:10798433] comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. synonym: "DORV" EXACT abbreviation [] synonym: "Double-outlet right ventricle" EXACT [] xref: Fyler:600 xref: Fyler:606 xref: MSH:D004310 xref: SNOMEDCT_US:7484005 xref: UMLS:C0013069 is_a: HP:0001710 ! Conotruncal defect is_a: HP:0011723 ! Congenital malformation of the right heart [Term] id: HP:0001722 name: High-output congestive heart failure def: "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0742747 is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0001723 name: Restrictive cardiomyopathy alt_id: HP:0005130 def: "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness." [https://orcid.org/0000-0002-0736-9199, PMID:17916581] comment: Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM. xref: MSH:D002313 xref: SNOMEDCT_US:415295002 xref: SNOMEDCT_US:90828009 xref: UMLS:C0007196 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001724 name: obsolete Aortic dilatation is_obsolete: true replaced_by: HP:0004942 [Term] id: HP:0001726 name: obsolete Increased prevalence of valvular disease is_obsolete: true consider: HP:0001654 [Term] id: HP:0001727 name: Thromboembolic stroke def: "A cerebrovascular accident (stroke) that occurs because of thromboembolism." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1112433 is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001730 name: Progressive hearing impairment alt_id: HP:0008590 def: "A progressive form of hearing impairment." [https://orcid.org/0000-0002-0736-9199] synonym: "Progressive hearing loss" EXACT [] xref: UMLS:C1842138 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0001732 name: Abnormality of the pancreas def: "An abnormality of the pancreas." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pancreas" EXACT layperson [] synonym: "Pancreatic disease" RELATED layperson [] xref: MSH:D010182 xref: SNOMEDCT_US:3855007 xref: UMLS:C0030286 xref: UMLS:C4025751 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001733 name: Pancreatitis def: "The presence of inflammation in the pancreas." [https://orcid.org/0000-0002-0736-9199] synonym: "Pancreatic inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D010195 xref: SNOMEDCT_US:75694006 xref: UMLS:C0030305 is_a: HP:0012091 ! Abnormality of pancreas physiology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0001734 name: Annular pancreas def: "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum." [https://orcid.org/0000-0002-0736-9199] xref: MSH:C536376 xref: SNOMEDCT_US:40315008 xref: UMLS:C0149955 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0001735 name: Acute pancreatitis alt_id: HP:0004512 def: "A acute form of pancreatitis." [https://orcid.org/0000-0002-0736-9199] synonym: "Acute pancreatic inflammation" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pancreatitis, acute" EXACT [] xref: SNOMEDCT_US:197456007 xref: UMLS:C0001339 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0001737 name: Pancreatic cysts def: "A cyst of the pancreas that possess a lining of mucous epithelium." [https://orcid.org/0000-0002-0736-9199] comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. synonym: "Multiple pancreatic cysts" RELATED layperson [] synonym: "Pancreatic cyst" RELATED layperson [] synonym: "Pancreatic cysts" EXACT layperson [] xref: MSH:D010181 xref: SNOMEDCT_US:31258000 xref: UMLS:C0030283 xref: UMLS:C1860394 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0001738 name: Exocrine pancreatic insufficiency alt_id: HP:0002581 alt_id: HP:0004508 alt_id: HP:0004509 def: "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [https://orcid.org/0000-0002-0736-9199] synonym: "Inability to properly digest food due to lack of pancreatic digestive enzymes" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pancreatic insufficiency" RELATED [] xref: MSH:D010188 xref: SNOMEDCT_US:37992001 xref: SNOMEDCT_US:47367009 xref: UMLS:C0030293 xref: UMLS:C0267963 is_a: HP:0012092 ! Abnormality of exocrine pancreas physiology [Term] id: HP:0001739 name: Abnormal nasopharynx morphology def: "A structural anomaly of the nasopharynx." [] comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. synonym: "Abnormality of the nasopharynx" EXACT [] xref: UMLS:C4025750 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0033151 ! Abnormal pharynx morphology [Term] id: HP:0001741 name: Phimosis def: "The male foreskin cannot be fully retracted from the head of the penis." [https://orcid.org/0009-0006-4530-3154] xref: SNOMEDCT_US:253854008 xref: UMLS:C0345326 is_a: HP:0100587 ! Abnormal preputium morphology [Term] id: HP:0001742 name: Nasal congestion def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [https://orcid.org/0000-0002-0736-9199] synonym: "Blockage of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Congestion of nose" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal blockage" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nasal obstruction" EXACT layperson [] synonym: "Obstruction of nose" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Stuffy nose" EXACT layperson [http://www.entnet.org/content/stuffy-nose] xref: MSH:D015508 xref: SNOMEDCT_US:232209000 xref: SNOMEDCT_US:267100006 xref: SNOMEDCT_US:68235000 xref: UMLS:C0027424 xref: UMLS:C0027429 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0001743 name: Abnormality of the spleen def: "An abnormality of the spleen." [https://orcid.org/0000-0002-0736-9199] comment: The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. synonym: "Abnormality of the spleen" EXACT layperson [] xref: UMLS:C4025749 is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0001744 name: Splenomegaly alt_id: HP:0001745 alt_id: HP:0006269 def: "Abnormal increased size of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased spleen size" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D013163 xref: SNOMEDCT_US:16294009 xref: UMLS:C0038002 is_a: HP:0003271 ! Visceromegaly is_a: HP:0025408 ! Abnormal spleen morphology [Term] id: HP:0001746 name: Asplenia def: "Absence (aplasia) of the spleen." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent spleen" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4771 xref: SNOMEDCT_US:702624008 xref: SNOMEDCT_US:707147002 xref: SNOMEDCT_US:93030006 xref: UMLS:C0600031 is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen [Term] id: HP:0001747 name: Accessory spleen def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [https://orcid.org/0000-0002-0736-9199] xref: Fyler:4772 xref: SNOMEDCT_US:10362008 xref: UMLS:C0266631 is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001748 name: Polysplenia alt_id: HP:0001749 alt_id: HP:0006271 alt_id: HP:0006272 def: "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [https://orcid.org/0000-0002-0736-9199] synonym: "Accessory spleens" EXACT [] synonym: "Multiple accessory spleens" EXACT [] synonym: "Multiple small spleens" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1856659 is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001750 name: Single ventricle def: "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle." [MP:0010432] synonym: "Common ventricle" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:0200 xref: Fyler:200 xref: SNOMEDCT_US:45503006 xref: UMLS:C0152424 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001751 name: Abnormal vestibular function alt_id: HP:0006917 alt_id: HP:0007921 def: "An abnormality of the functioning of the vestibular apparatus." [https://orcid.org/0000-0002-0736-9199] comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. synonym: "Impaired vestibular function" EXACT [] synonym: "Interictal vestibular dysfunction" EXACT [] synonym: "Vestibular function defect" EXACT [] xref: UMLS:C1843865 is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0001756 name: Vestibular hypofunction def: "A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance" [https://orcid.org/0000-0002-0736-9199, PMID:32767115] synonym: "Vestibular deficiency" EXACT [] synonym: "Vestibular dysfunction" EXACT [] synonym: "Vestibular failure" EXACT [] synonym: "Vestibular hyporeflexia" EXACT [] synonym: "Vestibular loss" EXACT [] synonym: "Vestibulopathy" EXACT [] xref: UMLS:C1848606 is_a: HP:0001751 ! Abnormal vestibular function [Term] id: HP:0001757 name: High-frequency sensorineural hearing impairment def: "A form of sensorineural hearing impairment that affects primarily the higher frequencies." [https://orcid.org/0000-0002-0736-9199] synonym: "High frequency sensorineural hearing impairment" EXACT [] synonym: "High-tone sensorineural deafness" EXACT [] synonym: "High-tone sensorineural hearing impairment" EXACT [] xref: UMLS:C4021775 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0001760 name: Abnormal foot morphology alt_id: HP:0010216 alt_id: HP:0010611 def: "An abnormality of the skeleton of foot." [https://orcid.org/0000-0002-0736-9199] comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. synonym: "Abnormal feet structure" EXACT layperson [] synonym: "Abnormality of the feet" EXACT layperson [] synonym: "Abnormality of the foot" EXACT layperson [] synonym: "Foot deformities" EXACT layperson [] synonym: "Foot deformity" EXACT layperson [] xref: MSH:D005530 xref: SNOMEDCT_US:229844004 xref: UMLS:C0016506 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0001761 name: Pes cavus 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. subset: hposlim_core synonym: "Club feet" EXACT layperson [] synonym: "Club foot" EXACT layperson [] synonym: "Clubbing of feet" EXACT [] synonym: "Clubfeet" EXACT layperson [] synonym: "Clubfoot" EXACT layperson [] synonym: "Equinovarus" EXACT [] synonym: "Foot, talipes equinovarus" EXACT [] synonym: "Pes equinovarus" EXACT [] synonym: "Pes equinus" EXACT [] synonym: "Talipes varus" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4171 xref: MEDDRA:10043106 "Talipes equinovarus, congenital" xref: MSH:D003025 xref: SNOMEDCT_US:249808002 xref: SNOMEDCT_US:397932003 xref: UMLS:C0009081 is_a: HP:0001883 ! Talipes [Term] id: HP:0001763 name: Pes planus def: "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Dropped arches" RELATED layperson [] synonym: "Fallen arches" RELATED layperson [] synonym: "Flat feet" EXACT layperson [] synonym: "Flat foot" EXACT layperson [] xref: MSH:D005413 xref: SNOMEDCT_US:203534009 xref: SNOMEDCT_US:53226007 xref: UMLS:C0016202 xref: UMLS:C0264133 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001765 name: Hammertoe def: "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [PMID:19125433] subset: hposlim_core synonym: "Hammer toe" EXACT layperson [] synonym: "Hammertoe" EXACT layperson [] synonym: "Hammertoes" EXACT layperson [] xref: MSH:D037801 xref: SNOMEDCT_US:122481008 xref: UMLS:C1136179 is_a: HP:0034398 ! Toe deformity [Term] id: HP:0001769 name: Broad foot def: "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [PMID:19125433] subset: hposlim_core synonym: "Broad feet" EXACT layperson [] synonym: "Broad foot" EXACT layperson [] synonym: "Wide foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1866241 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001770 name: Toe syndactyly alt_id: HP:0001828 alt_id: HP:0005677 def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [https://orcid.org/0000-0002-0736-9199] synonym: "Foot syndactyly" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Fused toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Syndactyly of feet" EXACT [] synonym: "Syndactyly of toes" EXACT [] synonym: "Webbed toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:32113001 xref: UMLS:C0265660 is_a: HP:0001159 ! Syndactyly is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001771 name: Achilles tendon contracture alt_id: HP:0004711 alt_id: HP:0005031 alt_id: HP:0006430 def: "A contracture of the Achilles tendon." [https://orcid.org/0000-0002-0736-9199] synonym: "Achilles tendon contractures" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Contractures of the Achilles tendon" EXACT [] synonym: "Shortening of the achilles tendon" EXACT layperson [] synonym: "Tight achilles tendon" EXACT layperson [] xref: SNOMEDCT_US:203076007 xref: UMLS:C0410264 is_a: HP:0005109 ! Abnormality of the Achilles tendon is_a: HP:0008366 ! Foot joint contracture [Term] id: HP:0001772 name: Talipes equinovalgus def: "A deformity of foot and ankle in which the foot is bent down and outwards." [https://orcid.org/0000-0002-0736-9199] synonym: "Equinovalgus deformity" RELATED [] xref: MSH:D004863 xref: SNOMEDCT_US:68284008 xref: UMLS:C0265642 xref: UMLS:C4020866 is_a: HP:0001883 ! Talipes [Term] id: HP:0001773 name: Short foot alt_id: HP:0001764 alt_id: HP:0001766 alt_id: HP:0001778 alt_id: HP:0008135 def: "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] synonym: "Hypoplastic feet" EXACT [] synonym: "Short feet" EXACT layperson [] synonym: "Short foot" EXACT layperson [] synonym: "Small feet" EXACT layperson [] xref: UMLS:C1848673 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001775 name: Tarsal osteovalgus xref: UMLS:C4025748 is_a: HP:0008365 ! Abnormal talus morphology [Term] id: HP:0001776 name: Bilateral talipes equinovarus def: "Bilateral clubfoot deformity." [https://orcid.org/0000-0002-0736-9199] synonym: "Bilateral clubfeet" EXACT [] synonym: "Bilateral clubfoot" EXACT [] synonym: "Club foot on both sides" EXACT layperson [] xref: UMLS:C1837835 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0001780 name: Abnormal toe morphology def: "An anomaly of a toe." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormalities of the toes" EXACT layperson [] synonym: "Abnormality of toe" EXACT layperson [] xref: UMLS:C2674738 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001782 name: Bulbous tips of toes def: "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025747 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001783 name: Broad metatarsal alt_id: HP:0005907 alt_id: HP:0008106 def: "Increased side-to-side width of a metatarsal bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad metatarsals" RELATED [] synonym: "Wide long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Widened metatarsal shaft" RELATED [] xref: UMLS:C1842231 xref: UMLS:C1850161 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0001785 name: Ankle swelling synonym: "Ankle swelling" EXACT layperson [] xref: SNOMEDCT_US:26237000 xref: SNOMEDCT_US:267039000 xref: UMLS:C0235439 is_a: HP:0034673 ! Abnormal ankle morphology [Term] id: HP:0001786 name: Narrow foot def: "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length." [PMID:19125433] subset: hposlim_core synonym: "Narrow foot" EXACT layperson [] synonym: "Slender feet" EXACT layperson [] xref: SNOMEDCT_US:299464006 xref: UMLS:C0576227 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001787 name: Abnormal delivery def: "An abnormality of the birth process." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal delivery" EXACT layperson [] synonym: "Delivery complication" EXACT layperson [] xref: SNOMEDCT_US:274127000 xref: UMLS:C0549629 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001788 name: Premature rupture of membranes alt_id: HP:0002163 def: "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D005322 xref: SNOMEDCT_US:237266003 xref: SNOMEDCT_US:44223004 xref: UMLS:C0015944 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001789 name: Hydrops fetalis alt_id: HP:0005099 def: "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [https://orcid.org/0000-0002-0736-9199] comment: The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. xref: MSH:D015160 xref: SNOMEDCT_US:276508000 xref: UMLS:C0020305 is_a: HP:0000969 ! Edema is_a: HP:0034058 ! Abnormal fetal morphology [Term] id: HP:0001790 name: Nonimmune hydrops fetalis def: "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ." [https://orcid.org/0000-0002-0736-9199] synonym: "Hydrops fetalis, non-immune" EXACT [] synonym: "Hydrops fetalis, nonimmune" EXACT [] synonym: "Non-immune fetal hydrops" EXACT [] synonym: "Non-immune foetal hydrops" EXACT uk_spelling [] synonym: "Nonimmune hydrops" EXACT [] xref: MSH:D015160 xref: SNOMEDCT_US:206538000 xref: SNOMEDCT_US:276509008 xref: UMLS:C0455988 is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0001791 name: Fetal ascites def: "Accumulation of fluid in the peritoneal cavity during the fetal period." [https://orcid.org/0000-0002-0736-9199] synonym: "Foetal ascites" EXACT uk_spelling [] xref: SNOMEDCT_US:363125002 xref: UMLS:C1285291 is_a: HP:0001541 ! Ascites is_a: HP:0034207 ! Abnormal fetal gastrointestinal system morphology [Term] id: HP:0001792 name: Small nail alt_id: HP:0001813 def: "A nail that is diminished in length and width, i.e., underdeveloped nail." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] synonym: "Hypoplastic nail" EXACT [] synonym: "Hypoplastic nails" EXACT [] synonym: "Nail hypoplasia" EXACT [] synonym: "Small nail" EXACT layperson [] synonym: "Small nails" EXACT layperson [] xref: SNOMEDCT_US:11375002 xref: UMLS:C0263523 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001795 name: Hyperconvex nail alt_id: HP:0008413 def: "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified. subset: hposlim_core synonym: "Increased nail curvature" EXACT layperson [] synonym: "Nail overcurvature" EXACT layperson [] xref: SNOMEDCT_US:247487009 xref: UMLS:C0423807 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001798 name: Anonychia alt_id: HP:0007593 alt_id: HP:0008384 def: "Aplasia of the nail." [https://orcid.org/0000-0002-0736-9199] comment: Total absence of nails. subset: hposlim_core synonym: "Absent nails" EXACT layperson [] synonym: "Aplastic nails" EXACT layperson [] xref: MSH:C536377 xref: SNOMEDCT_US:23610003 xref: UMLS:C0265998 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001799 name: Short nail alt_id: HP:0200075 def: "Decreased length of nail." [PMID:19125433] comment: Use this designation when the length is reduced but the width is normal. subset: hposlim_core synonym: "Short nail" EXACT layperson [] synonym: "Short nails" EXACT layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:247488004 xref: UMLS:C0423808 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001800 name: Hypoplastic toenails def: "Underdevelopment of the toenail." [https://orcid.org/0000-0002-0736-9199] synonym: "Underdeveloped toenails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1837279 is_a: HP:0001792 ! Small nail is_a: HP:0010624 ! Aplastic/hypoplastic toenail [Term] id: HP:0001802 name: Absent toenail def: "Congenital absence of the toenail." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent toenail" EXACT layperson [] synonym: "Absent toenails" RELATED layperson [] synonym: "Absent toenails (anonychia)" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Anonychia of toenails" RELATED [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1844555 is_a: HP:0001798 ! Anonychia is_a: HP:0010624 ! Aplastic/hypoplastic toenail [Term] id: HP:0001803 name: Nail pits def: "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." [PMID:19125433] subset: secondary_consequence synonym: "Nail pits" EXACT layperson [] synonym: "Nail pitting" EXACT layperson [] synonym: "Pitted nails" EXACT layperson [] xref: MEDDRA:10028702 "Nail pitting" xref: SNOMEDCT_US:89704006 xref: UMLS:C0150993 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001804 name: Hypoplastic fingernail def: "Underdevelopment of a fingernail." [https://orcid.org/0000-0002-0736-9199] synonym: "Small fingernail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped fingernail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1856786 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0001792 ! Small nail [Term] id: HP:0001805 name: Onychogryposis alt_id: HP:0001819 alt_id: HP:0200088 def: "Nail that appears thick when viewed on end." [PMID:19125433] comment: There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. synonym: "Dystrophic thickened nails" EXACT [] synonym: "Thick nail" EXACT layperson [] synonym: "Thickened nails" EXACT layperson [] xref: SNOMEDCT_US:52897009 xref: UMLS:C0263537 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001806 name: Onycholysis def: "Detachment of the nail from the nail bed." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Detachment of nail" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Oncholysis" EXACT [] xref: MEDDRA:10030337 "Onycholysis" xref: MSH:D054039 xref: SNOMEDCT_US:75789001 xref: UMLS:C0085661 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001807 name: Ridged nail alt_id: HP:0001801 alt_id: HP:0001811 def: "Longitudinal, linear prominences in the nail plate." [PMID:19125433] comment: There may be only one, or several ridges. The affected digits should be specified. subset: hposlim_core synonym: "Grooved nails" EXACT layperson [] synonym: "Longitudinal ridging" EXACT [] synonym: "Nail ridging" EXACT layperson [] synonym: "Ridged nails" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: SNOMEDCT_US:271768001 xref: UMLS:C0423820 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001808 name: Fragile nails alt_id: HP:0001796 def: "Nails that easily break." [https://orcid.org/0000-0002-0736-9199] synonym: "Brittle nails" EXACT layperson [] xref: UMLS:C1856963 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001809 name: Split nail def: "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature." [PMID:19125433] comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments. synonym: "Longitudinal splitting of nail" EXACT layperson [] xref: SNOMEDCT_US:85136002 xref: UMLS:C0263530 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001810 name: Dystrophic toenail alt_id: HP:0007558 def: "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate." [https://orcid.org/0000-0002-0736-9199] synonym: "Dystrophic toenail changes" EXACT [] synonym: "Dystrophic toenails" RELATED [] synonym: "Poor toenail formation" EXACT layperson [http://naildystrophy.com/, https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1833225 is_a: HP:0008388 ! Abnormal toenail morphology is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0001812 name: Hyperconvex fingernails alt_id: HP:0008380 def: "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] synonym: "Tubular fingernails" EXACT [] xref: UMLS:C1844825 is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0001814 name: Deep-set nails def: "Deeply placed nails." [https://orcid.org/0000-0002-0736-9199] synonym: "Deep-set nails" EXACT layperson [] xref: UMLS:C3277753 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001816 name: Thin nail def: "Nail that appears thin when viewed on end." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified. subset: hposlim_core synonym: "Thin nail" EXACT layperson [] synonym: "Thin nails" EXACT layperson [] xref: SNOMEDCT_US:63829008 xref: UMLS:C0423823 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001817 name: Absent fingernail def: "Absence of a fingernail." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent fingernail" EXACT layperson [] synonym: "Anonychia of fingernails" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Aplasia of the fingernail" EXACT [] xref: UMLS:C1844554 is_a: HP:0001798 ! Anonychia [Term] id: HP:0001818 name: Paronychia def: "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core xref: MEDDRA:10034016 "Paronychia" xref: MSH:D010304 xref: SNOMEDCT_US:71906005 xref: UMLS:C0030578 is_a: HP:0100803 ! Abnormality of the periungual region [Term] id: HP:0001820 name: Leukonychia def: "White discoloration of the nails." [https://orcid.org/0000-0002-0736-9199] synonym: "White discoloration of nails" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10050658 "Leukonychia" xref: SNOMEDCT_US:111202002 xref: UMLS:C0240182 is_a: HP:0100643 ! Abnormality of nail color [Term] id: HP:0001821 name: Broad nail alt_id: HP:0008406 def: "Increased width of nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad fingernails" EXACT layperson [] synonym: "Broad nail" EXACT layperson [] synonym: "Wide fingernails" EXACT layperson [] xref: UMLS:C1843112 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001822 name: Hallux valgus alt_id: HP:0004682 def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Bunion" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Lateral deviation of great toe" EXACT [] synonym: "Lateral deviation of halluces" EXACT [] xref: MSH:D000071378 xref: MSH:D006215 xref: SNOMEDCT_US:122480009 xref: SNOMEDCT_US:415692008 xref: UMLS:C0006386 xref: UMLS:C0018536 is_a: HP:0010051 ! Deviation of the hallux [Term] id: HP:0001824 name: Weight loss def: "Reduction of total body weight." [https://orcid.org/0000-0002-0736-9199] synonym: "Loss of weight" EXACT [] xref: MSH:D015431 xref: SNOMEDCT_US:161832001 xref: SNOMEDCT_US:262285001 xref: SNOMEDCT_US:89362005 xref: UMLS:C1262477 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001827 name: Genital tract atresia alt_id: HP:0001534 def: "Congenital occlusion of a tube in the genital tract." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025746 is_a: HP:0012243 ! Abnormal reproductive system morphology property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-27T04:08:00Z [Term] id: HP:0001829 name: Foot polydactyly alt_id: HP:0009135 def: "A kind of polydactyly characterized by the presence of a supernumerary toe or toes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Duplication of bones of the toes" EXACT layperson [] synonym: "Polydactyly of feet" EXACT [] synonym: "Polydactyly of the foot" EXACT [] xref: SNOMEDCT_US:62218008 xref: UMLS:C0158734 is_a: HP:0001780 ! Abnormal toe morphology is_a: HP:0009136 ! Duplication involving bones of the feet is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001830 name: Postaxial foot polydactyly alt_id: HP:0010346 def: "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [https://orcid.org/0000-0002-0736-9199] comment: The modifier postaxial means that the supernumerary digit is not a hallux. synonym: "Extra toe attached near the little toe" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Fibular polydactyly" RELATED [] synonym: "Polydactyly affecting the 5th toe" EXACT [] synonym: "Postaxial polydactyly of feet" EXACT [] synonym: "Postaxial polydactyly of foot" EXACT [] synonym: "Posterior polydactyly of foot" EXACT [] xref: UMLS:C2112129 xref: UMLS:C4020865 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0010322 ! Abnormal fifth toe morphology is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001831 name: Short toe alt_id: HP:0001767 alt_id: HP:0001781 alt_id: HP:0001855 alt_id: HP:0004701 alt_id: HP:0005889 alt_id: HP:0008099 def: "A toe that appears disproportionately short compared to the foot." [https://orcid.org/0000-0002-0736-9199] comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. subset: hposlim_core synonym: "Brachydactyly of the foot" EXACT [] synonym: "Hypoplasia of the toe" EXACT [] synonym: "Hypoplastic toes" EXACT [] synonym: "Short foot phalanges" EXACT [] synonym: "Short toe" EXACT layperson [] synonym: "Short toes" EXACT layperson [] synonym: "Stubby toes" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1836195 is_a: HP:0001991 ! Aplasia/Hypoplasia of toe is_a: HP:0011927 ! Short digit [Term] id: HP:0001832 name: Abnormal metatarsal morphology def: "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025745 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0001833 name: Long foot alt_id: HP:0008136 alt_id: HP:0008143 def: "Increased back to front length of the foot." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Disproportionately large feet" EXACT layperson [] synonym: "large feet" EXACT layperson [] synonym: "long feet" EXACT layperson [] synonym: "Long foot" EXACT layperson [] xref: SNOMEDCT_US:299462005 xref: UMLS:C0576225 is_a: HP:0001760 ! Abnormal foot morphology [Term] id: HP:0001836 name: Camptodactyly of toe def: "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Camptodactyly of feet" EXACT [] xref: UMLS:C4021774 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0012385 ! Camptodactyly [Term] id: HP:0001837 name: Broad toe def: "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension." [PMID:19125433] comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. subset: hposlim_core synonym: "Broad toe" EXACT layperson [] synonym: "Wide toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1865038 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001838 name: Rocker bottom foot alt_id: HP:0001835 alt_id: HP:0004693 alt_id: HP:0010218 def: "The presence of both a prominent heel and a convex contour of the sole." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. subset: hposlim_core synonym: "Congenital vertical talus" EXACT [] synonym: "Rocker bottom feet" EXACT layperson [] synonym: "Rocker bottom foot" EXACT layperson [] synonym: "Rocker-bottom feet" EXACT layperson [] synonym: "Rockerbottom feet" EXACT layperson [] xref: MEDDRA:10066242 "Vertical talus" xref: MSH:C536345 xref: MSH:D005413 xref: SNOMEDCT_US:205082007 xref: SNOMEDCT_US:205359003 xref: UMLS:C0240912 is_a: HP:0008365 ! Abnormal talus morphology [Term] id: HP:0001839 name: Split foot alt_id: HP:0003062 alt_id: HP:0005904 def: "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet." [https://orcid.org/0009-0006-4530-3154] subset: hposlim_core synonym: "Foot ectrodactyly" EXACT [] synonym: "Lobster-claw foot deformity" EXACT layperson [] synonym: "Split foot" EXACT layperson [] synonym: "Split-foot" EXACT layperson [] xref: SNOMEDCT_US:205358006 xref: UMLS:C0432028 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001840 name: Metatarsus adductus alt_id: HP:0001768 alt_id: HP:0010217 def: "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. subset: hposlim_core synonym: "Forefoot varus" EXACT [] synonym: "Front half of foot turns inward" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Intoe" RELATED [] synonym: "Metatarsus adductovarsus" EXACT [] synonym: "Metatarsus varus" EXACT [] xref: MSH:D000070592 xref: SNOMEDCT_US:77599005 xref: UMLS:C0231791 xref: UMLS:C4082169 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0001841 name: Preaxial foot polydactyly alt_id: HP:0009607 alt_id: HP:0010050 def: "Duplication of all or part of the first ray." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. synonym: "Partial/complete duplication of the phalanges of the big toe" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Polydactyly affecting the hallux" EXACT [] synonym: "Preaxial hallucal polydactyly" EXACT [] synonym: "Preaxial polydactyly of feet" EXACT [] synonym: "Preaxial polydactyly of foot" EXACT [] synonym: "Preaxial polydactyly of the feet" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "Preaxial polydactyly, feet" EXACT [] xref: MSH:C566632 xref: UMLS:C1866339 xref: UMLS:C2112942 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001842 name: Foot acroosteolysis synonym: "Acroosteolysis of feet" EXACT [] xref: UMLS:C4025744 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes [Term] id: HP:0001844 name: Abnormal hallux morphology def: "This term applies for all abnormalities of the big toe, also called hallux." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormalities of the hallux" EXACT [] synonym: "Abnormality of the big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormality of the hallux" EXACT [] xref: UMLS:C4021773 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001845 name: Overlapping toe def: "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. subset: hposlim_core synonym: "Crossover toe" RELATED layperson [] synonym: "Overlapping toe" EXACT layperson [] synonym: "Overlapping toes" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Overriding toes" EXACT layperson [] xref: SNOMEDCT_US:203541003 xref: UMLS:C0920299 is_a: HP:0034398 ! Toe deformity [Term] id: HP:0001847 name: Long hallux alt_id: HP:0001867 def: "Increased length of the big toe." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Increased length of the hallux" EXACT [] synonym: "Large halluces" EXACT [] synonym: "Long big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Long halluces" EXACT [] xref: UMLS:C1864375 is_a: HP:0001844 ! Abnormal hallux morphology is_a: HP:0010511 ! Long toe [Term] id: HP:0001848 name: Calcaneovalgus deformity alt_id: HP:0001774 alt_id: HP:0008120 def: "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)." [https://orcid.org/0000-0002-0736-9199] comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. synonym: "Calcaneovalgus" EXACT [] synonym: "Calcaneovalgus Foot" EXACT [] synonym: "Foot and ankle bend up toward shin of leg" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Valgus position of the calcaneus" EXACT [] xref: UMLS:C1860450 is_a: HP:0008119 ! Deformed tarsal bones is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0001849 name: Foot oligodactyly alt_id: HP:0001777 def: "A developmental defect resulting in the presence of fewer than the normal number of toes." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Missing toes" EXACT layperson [] synonym: "Oligodactyly of feet" EXACT [] xref: SNOMEDCT_US:249820005 xref: UMLS:C0426934 is_a: HP:0010760 ! Absent toe is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001850 name: Abnormality of the tarsal bones def: "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal ankle bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Abnormal tarsals" EXACT [] xref: UMLS:C1862136 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0001852 name: Sandal gap def: "A widely spaced gap between the first toe (the great toe) and the second toe." [https://orcid.org/0000-0002-0736-9199, PMID:19125433] subset: hposlim_core synonym: "Gap between 1st and 2nd toes" EXACT layperson [] synonym: "Gap between first and second toe" EXACT layperson [] synonym: "Increased space between first and second toes" EXACT layperson [] synonym: "Sandal gap between first and second toes" EXACT layperson [] synonym: "Space between great toe and second toe" EXACT [] synonym: "Wide space between 1st, 2nd toes" EXACT layperson [] synonym: "Wide space between first and second toes" EXACT layperson [] synonym: "Wide-spaced big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Widely spaced 1st-2nd toes" EXACT layperson [] synonym: "Widely spaced first and second toes" EXACT layperson [] synonym: "Widened gap 1st-2nd toes" EXACT layperson [] synonym: "Widened gap first and second toe" EXACT layperson [] xref: UMLS:C1840069 is_a: HP:0001780 ! Abnormal toe morphology [Term] id: HP:0001853 name: Bifid distal phalanx of toe alt_id: HP:0005615 synonym: "Bifid distal phalanges of toes" EXACT [] synonym: "Bifid terminal phalanx of toe" EXACT [] synonym: "Notched outermost bones of toes" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: UMLS:C4021772 is_a: HP:0009136 ! Duplication involving bones of the feet [Term] id: HP:0001854 name: Podagra def: "Gout affecting the Metatarsophalangeal joint of big toe." [https://orcid.org/0009-0006-4530-3154] synonym: "Gout of big toe" EXACT [] xref: SNOMEDCT_US:67148009 xref: UMLS:C0221168 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0001997 ! Gout [Term] id: HP:0001857 name: Short distal phalanx of toe def: "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe." [PMID:19125433] comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. synonym: "Hypoplastic distal phalanges of feet" EXACT [] synonym: "Short outermost bone of toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021771 is_a: HP:0005035 ! Shortening of all phalanges of the toes is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes [Term] id: HP:0001859 name: Distal foot symphalangism alt_id: HP:0100236 xref: UMLS:C4025743 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001862 name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) is_obsolete: true replaced_by: HP:0006121 [Term] id: HP:0001863 name: Toe clinodactyly def: "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Clinodactyly of feet" EXACT [] synonym: "Toe curvature" BROAD layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4021770 xref: UMLS:C4280587 is_a: HP:0030084 ! Clinodactyly is_a: HP:0100498 ! Deviation of toes [Term] id: HP:0001864 name: Clinodactyly of the 5th toe def: "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)." [https://orcid.org/0000-0002-0736-9199] synonym: "Curvature of the little toe" BROAD [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of the pinkie toe" BROAD [https://orcid.org/0000-0001-5208-3432] synonym: "Curvature of the pinky toe" BROAD [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025741 xref: UMLS:C4280586 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010344 ! Deviation of the 5th toe [Term] id: HP:0001868 name: Autoamputation of foot def: "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: MSH:D006402 xref: SNOMEDCT_US:191124002 xref: SNOMEDCT_US:34093004 xref: UMLS:C0018939 xref: UMLS:C0850715 xref: UMLS:C4020864 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001872 name: Abnormality of thrombocytes alt_id: HP:0004807 alt_id: HP:0005554 def: "An abnormality of platelets." [https://orcid.org/0000-0002-0736-9199] comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. synonym: "Blood platelet disease" RELATED [] synonym: "Platelet abnormalities" EXACT layperson [] synonym: "Thrombasthenia" RELATED [] xref: MSH:D013915 xref: SNOMEDCT_US:127566005 xref: SNOMEDCT_US:32942005 xref: UMLS:C0040015 xref: UMLS:C0151854 xref: UMLS:C4020863 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001873 name: Thrombocytopenia alt_id: HP:0001906 alt_id: HP:0004838 alt_id: HP:0008175 alt_id: HP:0008268 alt_id: HP:0008302 def: "A reduction in the number of circulating thrombocytes." [https://orcid.org/0000-0002-0736-9199] comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). synonym: "Low platelet count" EXACT layperson [] xref: MSH:D013921 xref: SNOMEDCT_US:302215000 xref: SNOMEDCT_US:415116008 xref: UMLS:C0040034 xref: UMLS:C0392386 is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001874 name: Abnormality of neutrophils def: "A neutrophil abnormality." [https://orcid.org/0000-0002-0736-9199, PMID:21094463, PMID:26819959] comment: Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day. synonym: "Abnormality of neutrophil" EXACT [] synonym: "Abnormality of neutrophils" EXACT layperson [] synonym: "Abnormality of polymorphonuclear neutrophils" EXACT [] xref: SNOMEDCT_US:250274006 xref: UMLS:C0427515 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001875 name: Neutropenia alt_id: HP:0005515 alt_id: HP:0005533 def: "An abnormally low number of neutrophils in the peripheral blood." [https://orcid.org/0000-0002-0736-9199, PMID:25642312] comment: Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood. synonym: "Low blood neutrophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Low neutrophil count" EXACT layperson [] synonym: "Neutropoenia" EXACT uk_spelling [] synonym: "Peripheral neutropenia" EXACT [] xref: SNOMEDCT_US:165517008 xref: UMLS:C0853697 is_a: HP:0011991 ! Abnormal neutrophil count [Term] id: HP:0001876 name: Pancytopenia def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [https://orcid.org/0000-0002-0736-9199] synonym: "Low blood cell count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pancytopaenia" EXACT uk_spelling [] xref: MSH:D010198 xref: SNOMEDCT_US:127034005 xref: UMLS:C0030312 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001877 name: Abnormal erythrocyte morphology alt_id: HP:0010973 def: "Any structural abnormality of erythrocytes (red-blood cells)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of erythrocytes" EXACT [] synonym: "Abnormality of erythroid lineage cell" RELATED [] synonym: "Abnormality of red blood cells" EXACT [] xref: SNOMEDCT_US:12222001 xref: UMLS:C0391870 xref: UMLS:C4020862 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001878 name: Hemolytic anemia alt_id: HP:0001910 alt_id: HP:0004827 alt_id: HP:0004853 alt_id: HP:0004868 alt_id: HP:0005503 def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [https://orcid.org/0000-0002-0736-9199] comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. synonym: "Haemolytic anaemia" EXACT [] synonym: "Hemolytic anaemia" EXACT uk_spelling [] synonym: "Increased hemolysis" EXACT [] xref: MSH:D000743 xref: SNOMEDCT_US:61261009 xref: UMLS:C0002878 is_a: HP:0011895 ! Anemia due to reduced life span of red cells [Term] id: HP:0001879 name: Abnormal eosinophil morphology def: "An abnormal count or structure of eosinophils." [https://orcid.org/0000-0002-0736-9199, PMID:23154224] comment: Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. synonym: "Abnormality of eosinophils" EXACT [] xref: UMLS:C4025738 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001880 name: Eosinophilia def: "Increased count of eosinophils in the blood." [https://orcid.org/0009-0006-4530-3154] synonym: "High blood eosinophil count" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D004802 xref: UMLS:C0014457 is_a: HP:0001974 ! Leukocytosis is_a: HP:0020064 ! Abnormal eosinophil count [Term] id: HP:0001881 name: Abnormal leukocyte morphology def: "An abnormality of leukocytes." [https://orcid.org/0000-0002-0736-9199] comment: Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. synonym: "Abnormality of leukocytes" EXACT [] xref: SNOMEDCT_US:134199001 xref: SNOMEDCT_US:24827003 xref: UMLS:C0152009 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0010987 ! Abnormal cellular immune system morphology [Term] id: HP:0001882 name: Leukopenia def: "An abnormal decreased number of leukocytes in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased blood leukocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Low white blood cell count" EXACT layperson [] xref: MSH:D007970 xref: SNOMEDCT_US:84828003 xref: UMLS:C0023530 is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0001883 name: Talipes def: "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [https://orcid.org/0009-0006-4530-3154] comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes. (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: MSH:D000070558 xref: SNOMEDCT_US:398309008 xref: UMLS:C1301937 xref: UMLS:C3552713 is_a: HP:0005656 ! Positional foot deformity [Term] id: HP:0001884 name: Talipes calcaneovalgus def: "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [https://orcid.org/0000-0002-0736-9199] synonym: "Pes calcaneovarus" EXACT [] xref: MSH:D005413 xref: SNOMEDCT_US:205083002 xref: SNOMEDCT_US:31668003 xref: UMLS:C0152237 is_a: HP:0001883 ! Talipes [Term] id: HP:0001885 name: Short 2nd toe def: "Underdevelopment (hypoplasia) of the second toe." [https://orcid.org/0000-0002-0736-9199] synonym: "Short second toe" EXACT layperson [] xref: UMLS:C4021769 is_a: HP:0001831 ! Short toe [Term] id: HP:0001886 name: Foot osteomyelitis def: "An infection of bone of the foot." [] synonym: "Foot bone infection" EXACT layperson [] xref: UMLS:C4025737 is_a: HP:0001760 ! Abnormal foot morphology is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0001888 name: Lymphopenia def: "A reduced number of lymphocytes in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Absolute lymphocyte count decrease" EXACT [] synonym: "Decreased blood lymphocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Low lymphocyte number" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Lymphocytopenia" EXACT [] xref: MSH:D008231 xref: SNOMEDCT_US:48813009 xref: UMLS:C0024312 is_a: HP:0040088 ! Abnormal lymphocyte count [Term] id: HP:0001889 name: Megaloblastic anemia alt_id: HP:0004858 def: "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [https://orcid.org/0000-0002-0736-9199] comment: Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. synonym: "Megaloblastic anaemia" EXACT uk_spelling [] xref: MSH:D000749 xref: SNOMEDCT_US:53165003 xref: UMLS:C0002888 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0001890 name: Autoimmune hemolytic anemia def: "An autoimmune form of hemolytic anemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Autoimmune haemolytic anaemia" EXACT [] synonym: "Autoimmune hemolytic anaemia" EXACT uk_spelling [] synonym: "Hemolytic anemia, autoimmune" EXACT [] xref: MSH:D000744 xref: SNOMEDCT_US:413603009 xref: UMLS:C0002880 is_a: HP:0001878 ! Hemolytic anemia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001891 name: Iron deficiency anemia synonym: "Ferropenic" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Iron deficiency anaemia" EXACT uk_spelling [] synonym: "Iron-deficiency anaemia" EXACT uk_spelling [] synonym: "Iron-deficiency anemia" EXACT [] xref: MSH:D018798 xref: SNOMEDCT_US:87522002 xref: UMLS:C0162316 is_a: HP:0001931 ! Hypochromic anemia [Term] id: HP:0001892 name: Abnormal bleeding alt_id: HP:0004830 alt_id: HP:0004834 alt_id: HP:0004849 alt_id: HP:0004862 alt_id: HP:0004865 alt_id: HP:0008183 def: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [https://orcid.org/0000-0002-0736-9199] comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. synonym: "Bleeding diathesis" EXACT [] synonym: "Bleeding tendency" EXACT layperson [] synonym: "Hemorrhagic diathesis" EXACT [] xref: SNOMEDCT_US:248250000 xref: SNOMEDCT_US:64779008 xref: UMLS:C1458140 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001894 name: Thrombocytosis def: "Increased numbers of platelets in the peripheral blood." [https://orcid.org/0000-0002-0736-9199] comment: Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. synonym: "Increased number of platelets in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Increased platelet count" EXACT [] synonym: "Thrombocythaemia" RELATED [] synonym: "Thrombocythemia" RELATED [] xref: MSH:D013922 xref: SNOMEDCT_US:415115007 xref: SNOMEDCT_US:6631009 xref: UMLS:C0836924 xref: UMLS:C0857460 is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001895 name: Normochromic anemia synonym: "Normochromic anaemia" EXACT uk_spelling [] xref: UMLS:C0235983 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001896 name: Reticulocytopenia def: "A reduced number of reticulocytes in the peripheral blood." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:124961001 xref: UMLS:C0858867 is_a: HP:0004312 ! Abnormal reticulocyte morphology [Term] id: HP:0001897 name: Normocytic anemia def: "A kind of anemia in which the volume of the red blood cells is normal." [https://orcid.org/0000-0002-0736-9199] comment: In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). synonym: "Normocytic anaemia" EXACT uk_spelling [] xref: SNOMEDCT_US:300980002 xref: UMLS:C0085577 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001898 name: Increased red blood cell mass def: "The presence of an increased mass of red blood cells in the circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased RBC mass" EXACT abbreviation [] xref: UMLS:C1853288 is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001899 name: Increased hematocrit def: "An elevation above the normal ratio of the volume of red blood cells to the total volume of blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased Hct" EXACT abbreviation [] xref: UMLS:C0239935 is_a: HP:0031850 ! Abnormal hematocrit [Term] id: HP:0001900 name: Increased hemoglobin synonym: "Increased haemoglobin" EXACT uk_spelling [] synonym: "Increased Hb" EXACT abbreviation [] xref: SNOMEDCT_US:131141003 xref: UMLS:C0549448 is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001901 name: Polycythemia alt_id: HP:0001893 def: "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormally shaped erythrocytes" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Erythrocytosis" EXACT [] synonym: "Increased red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Polyglobulia" EXACT [] xref: MSH:D011086 xref: SNOMEDCT_US:109992005 xref: SNOMEDCT_US:127062003 xref: UMLS:C0032461 xref: UMLS:C1527405 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0001902 name: Giant platelets def: "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)." [https://orcid.org/0000-0002-0736-9199] comment: This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly. xref: SNOMEDCT_US:44687006 xref: UMLS:C0333864 is_a: HP:0011877 ! Increased mean platelet volume [Term] id: HP:0001903 name: Anemia alt_id: HP:0001926 alt_id: HP:0003136 alt_id: HP:0005509 def: "A reduction in erythrocytes volume or hemoglobin concentration." [https://orcid.org/0000-0002-0736-9199] comment: Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. synonym: "Anaemia" EXACT [] synonym: "Decreased haemoglobin" RELATED uk_spelling [] synonym: "Decreased hemoglobin" RELATED [] synonym: "Low number of red blood cells or haemoglobin" EXACT uk_spelling [] synonym: "Low number of red blood cells or hemoglobin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D000740 xref: SNOMEDCT_US:165397008 xref: SNOMEDCT_US:271737000 xref: UMLS:C0002871 xref: UMLS:C0162119 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0001904 name: Neutropenia in presence of anti-neutropil antibodies def: "A type of neutropenia that is observed in the presence of granulocyte-specific antibodies." [https://orcid.org/0000-0002-0736-9199, PMID:25642312] comment: The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction. synonym: "Autoimmune neutropenia" EXACT [] xref: SNOMEDCT_US:234425008 xref: UMLS:C0340971 is_a: HP:0001875 ! Neutropenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001905 name: Congenital thrombocytopenia alt_id: HP:0004869 def: "Thrombocytopenia with congenital onset." [https://orcid.org/0000-0002-0736-9199] synonym: "thrombocytopenia, congenital" EXACT [] xref: UMLS:C0272278 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001907 name: Thromboembolism def: "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [https://orcid.org/0000-0002-0736-9199] synonym: "Blood clot in blood vessel" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200] synonym: "Embolism and thrombosis" RELATED [] synonym: "Thromboembolic disease" EXACT [] synonym: "Thromboembolic events" EXACT [] xref: MSH:D013923 xref: MSH:D016769 xref: SNOMEDCT_US:13713005 xref: SNOMEDCT_US:371039008 xref: UMLS:C0040038 xref: UMLS:C0085307 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0001908 name: Hypoplastic anemia def: "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoplastic anaemia" EXACT uk_spelling [] xref: MSH:D000741 xref: SNOMEDCT_US:167923006 xref: SNOMEDCT_US:41614006 xref: UMLS:C0178416 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001909 name: Leukemia alt_id: HP:0005519 alt_id: HP:0006726 def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [https://orcid.org/0000-0002-0736-9199, NCIT:C3161] synonym: "Blood cancer" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Leukaemia" EXACT uk_spelling [] xref: MSH:D007938 xref: MSH:D019337 xref: SNOMEDCT_US:129154003 xref: SNOMEDCT_US:269475001 xref: SNOMEDCT_US:87163000 xref: SNOMEDCT_US:93143009 xref: UMLS:C0023418 xref: UMLS:C0376545 is_a: HP:0001881 ! Abnormal leukocyte morphology is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0001911 name: Abnormal granulocyte morphology alt_id: HP:0005438 def: "Any structural abnormality or abnormal count of granulocytes." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of granulocytes" EXACT [] xref: SNOMEDCT_US:250274006 xref: UMLS:C0427515 is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology [Term] id: HP:0001912 name: Abnormal basophil morphology def: "Any structural abnormality or abnormal count of basophils." [https://orcid.org/0000-0002-0736-9199, PMID:24075190] comment: Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies. synonym: "Abnormality of basophils" EXACT [] xref: UMLS:C4025736 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001913 name: Granulocytopenia def: "An abnormally reduced number of granulocytes in the blood." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D000380 xref: SNOMEDCT_US:17182001 xref: SNOMEDCT_US:417672002 xref: UMLS:C0001824 is_a: HP:0032309 ! Abnormal granulocyte count [Term] id: HP:0001915 name: Aplastic anemia def: "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [https://orcid.org/0000-0002-0736-9199, PMID:21239768] comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. synonym: "Aplastic anaemia" EXACT uk_spelling [] xref: MSH:D000741 xref: SNOMEDCT_US:304132006 xref: SNOMEDCT_US:306058006 xref: UMLS:C0002874 is_a: HP:0001876 ! Pancytopenia [Term] id: HP:0001917 name: Renal amyloidosis def: "A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856)." [https://orcid.org/0000-0002-0736-9199, PMID:25852856] comment: In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid. xref: SNOMEDCT_US:48713002 xref: UMLS:C0268382 is_a: HP:0011034 ! Amyloidosis is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0001919 name: Acute kidney injury def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [https://orcid.org/0000-0002-0736-9199] comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. synonym: "Acute kidney failure" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Acute renal failure" EXACT [] xref: MSH:D058186 xref: SNOMEDCT_US:14350001000004108 xref: SNOMEDCT_US:14669001 xref: UMLS:C0022660 xref: UMLS:C2609414 is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0001920 name: Renal artery stenosis def: "The presence of stenosis of the renal artery." [https://orcid.org/0000-0002-0736-9199] synonym: "Narrowing of kidney artery" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: Fyler:2634 xref: MSH:D012078 xref: SNOMEDCT_US:282664001 xref: SNOMEDCT_US:302233006 xref: UMLS:C0035067 is_a: HP:0008776 ! Abnormal renal artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001922 name: Vacuolated lymphocytes alt_id: HP:0008147 alt_id: HP:0008329 def: "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm." [https://orcid.org/0000-0002-0736-9199, PMID:20633042] comment: Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. synonym: "Enlarged lysosomal vacuoles in lymphocytes" EXACT [] synonym: "Vacuolated blood lymphocytes" EXACT [] xref: UMLS:C1836855 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0001923 name: Reticulocytosis def: "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased immature red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Increased number of immature red blood cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Increased reticulocyte count" EXACT [] synonym: "Increased reticulocytes" EXACT [] xref: MSH:D045262 xref: SNOMEDCT_US:46049004 xref: UMLS:C0206160 is_a: HP:0004312 ! Abnormal reticulocyte morphology [Term] id: HP:0001924 name: Sideroblastic anemia alt_id: HP:0100791 def: "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." [https://orcid.org/0000-0002-0736-9199] comment: Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. synonym: "Hypersideremic anaemia" EXACT uk_spelling [] synonym: "Hypersideremic anemia" EXACT [] synonym: "Sideroblastic anaemia" EXACT uk_spelling [] xref: MSH:D000756 xref: SNOMEDCT_US:41841004 xref: UMLS:C0002896 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001927 name: Acanthocytosis alt_id: HP:0005552 def: "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acanthocytes" EXACT [] synonym: "Red cell acanthocytosis" EXACT [] xref: SNOMEDCT_US:250249008 xref: UMLS:C0687751 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001928 name: Abnormality of coagulation def: "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Blood coagulation disorder" RELATED [] synonym: "Coagulation abnormalities" EXACT [] synonym: "Coagulation abnormality" EXACT [] synonym: "Haemorrhagic disorders" EXACT [https://orcid.org/0009-0006-4530-3154] xref: MSH:D001778 xref: MSH:D006474 xref: SNOMEDCT_US:362970003 xref: SNOMEDCT_US:64779008 xref: UMLS:C0005779 xref: UMLS:C0019087 xref: UMLS:C1846821 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001929 name: Reduced factor XI activity def: "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." [https://orcid.org/0000-0002-0736-9199] synonym: "Factor XI deficiency" RELATED [] synonym: "Low factor XI activity" EXACT [] xref: MSH:D005173 xref: SNOMEDCT_US:49762007 xref: UMLS:C0015523 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0001930 name: Nonspherocytic hemolytic anemia synonym: "Nonspherocytic hemolytic anaemia" EXACT uk_spelling [] xref: UMLS:C4025735 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001931 name: Hypochromic anemia def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [https://orcid.org/0000-0002-0736-9199] comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). synonym: "Hypochromic anaemia" EXACT [] xref: MSH:D000747 xref: SNOMEDCT_US:44452003 xref: UMLS:C0002884 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001933 name: Subcutaneous hemorrhage def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [https://orcid.org/0000-0002-0736-9199] comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. synonym: "Bleeding below the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Subcutaneous haemorrhage" EXACT uk_spelling [] xref: UMLS:C0854107 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011276 ! Vascular skin abnormality property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-28T07:14:00Z [Term] id: HP:0001934 name: Persistent bleeding after trauma alt_id: HP:0007463 synonym: "Excessive bleeding after minor trauma" EXACT layperson [] synonym: "Frequent bleeding with trauma" EXACT layperson [] synonym: "Prolonged bleeding after minor trauma" EXACT layperson [] xref: UMLS:C1844374 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0001935 name: Microcytic anemia def: "A kind of anemia in which the volume of the red blood cells is reduced." [https://orcid.org/0000-0002-0736-9199] comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). synonym: "Microcytic anaemia" EXACT uk_spelling [] xref: MSH:C562385 xref: SNOMEDCT_US:234349007 xref: UMLS:C0085576 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001937 name: Microangiopathic hemolytic anemia synonym: "Microangiopathic hemolytic anaemia" EXACT uk_spelling [] xref: MSH:D000743 xref: SNOMEDCT_US:51071000 xref: UMLS:C0221021 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001939 name: Abnormality of metabolism/homeostasis alt_id: HP:0002146 alt_id: HP:0004355 alt_id: HP:0004367 synonym: "Laboratory abnormality" EXACT layperson [] synonym: "Metabolism abnormality" EXACT layperson [] xref: UMLS:C4021768 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001941 name: Acidosis alt_id: HP:0001940 def: "Abnormal acid accumulation or depletion of base." [https://orcid.org/0000-0002-0736-9199, PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. xref: MSH:D000138 xref: SNOMEDCT_US:51387008 xref: UMLS:C0001122 is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001942 name: Metabolic acidosis alt_id: HP:0004895 alt_id: HP:0004907 def: "Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause." [https://orcid.org/0000-0002-0736-9199, PMID:17936961, PMID:31418093] comment: The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. xref: MSH:D000138 xref: SNOMEDCT_US:59455009 xref: UMLS:C0220981 is_a: HP:0001941 ! Acidosis [Term] id: HP:0001943 name: Hypoglycemia alt_id: HP:0003356 def: "A decreased concentration of glucose in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Hypoglycaemia" EXACT [] synonym: "Low blood sugar" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D007003 xref: SNOMEDCT_US:237630007 xref: SNOMEDCT_US:271327008 xref: SNOMEDCT_US:302866003 xref: UMLS:C0020615 is_a: HP:0011015 ! Abnormal blood glucose concentration [Term] id: HP:0001944 name: Dehydration synonym: "Dehydration" EXACT layperson [] synonym: "Exsiccosis" EXACT [] xref: MSH:D003681 xref: SNOMEDCT_US:34095006 xref: UMLS:C0011175 is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0001945 name: Fever def: "Body temperature elevated above the normal range." [https://orcid.org/0009-0006-4530-3154, PMID:9759682] comment: Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. synonym: "Fever" EXACT layperson [] synonym: "Hyperthermia" EXACT [] synonym: "Pyrexia" EXACT [] xref: MSH:D005334 xref: SNOMEDCT_US:386661006 xref: SNOMEDCT_US:50177009 xref: UMLS:C0015967 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0001946 name: Ketosis alt_id: HP:0003543 def: "Presence of elevated levels of ketone bodies in the body." [https://orcid.org/0000-0002-0736-9199, PMID:28278308] comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate. synonym: "High levels of ketone bodies" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperketosis" EXACT [] xref: MSH:D007662 xref: SNOMEDCT_US:213281004 xref: SNOMEDCT_US:2538008 xref: UMLS:C0022638 xref: UMLS:C0235430 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001947 name: Renal tubular acidosis def: "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." [https://orcid.org/0000-0002-0736-9199] synonym: "Accumulation of acid in body due to kidney problem" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D000141 xref: SNOMEDCT_US:1776003 xref: UMLS:C0001126 is_a: HP:0000124 ! Renal tubular dysfunction is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0001948 name: Alkalosis def: "Depletion of acid or accumulation base in the body fluids." [https://orcid.org/0000-0002-0736-9199, PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. xref: MSH:D000471 xref: SNOMEDCT_US:21420006 xref: UMLS:C0002063 is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001949 name: Hypokalemic alkalosis xref: SNOMEDCT_US:22774003 xref: UMLS:C0085570 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001950 name: Respiratory alkalosis def: "Alkalosis due to excess loss of carbon dioxide from the body." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D000472 xref: SNOMEDCT_US:111378004 xref: UMLS:C0002064 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001951 name: Episodic ammonia intoxication xref: UMLS:C1839541 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0001952 name: Glucose intolerance alt_id: HP:0000833 def: "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)." [PMID:29763085] synonym: "Abnormal glucose tolerance" BROAD [] synonym: "Glucose intolerance" EXACT layperson [] xref: UMLS:C0235401 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0001953 name: Diabetic ketoacidosis alt_id: HP:0008253 def: "A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [https://orcid.org/0000-0002-0736-9199] synonym: "Diabetic ketosis" EXACT [] xref: MSH:D016883 xref: SNOMEDCT_US:420422005 xref: UMLS:C0011880 is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0001954 name: Recurrent fever alt_id: HP:0004903 alt_id: HP:0005962 alt_id: HP:0005966 alt_id: HP:0005980 def: "Periodic (episodic or recurrent) bouts of fever." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic fever" EXACT layperson [] synonym: "Hyperthermia, episodic" EXACT [] synonym: "Increased body temperature, episodic" EXACT layperson [] synonym: "Intermittent fever" EXACT layperson [] xref: SNOMEDCT_US:77957000 xref: UMLS:C0277799 is_a: HP:0001945 ! Fever [Term] id: HP:0001955 name: Unexplained fevers def: "Episodes of fever for which no infectious cause can be identified." [https://orcid.org/0000-0002-0736-9199] synonym: "Unexplained fevers" EXACT layperson [] xref: UMLS:C1844662 is_a: HP:0001945 ! Fever [Term] id: HP:0001956 name: Truncal obesity alt_id: HP:0008885 def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [https://orcid.org/0000-0002-0736-9199] synonym: "Centripetal obesity" EXACT [] synonym: "Truncal obesity" EXACT layperson [] xref: MSH:D056128 xref: SNOMEDCT_US:248311001 xref: UMLS:C0311277 is_a: HP:0001513 ! Obesity [Term] id: HP:0001958 name: Nonketotic hypoglycemia xref: UMLS:C1865292 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001959 name: Polydipsia def: "Excessive thirst manifested by excessive fluid intake." [] synonym: "Extreme thirst" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D059606 xref: SNOMEDCT_US:17173007 xref: SNOMEDCT_US:267026004 xref: UMLS:C0085602 is_a: HP:0030082 ! Abnormal drinking behavior [Term] id: HP:0001960 name: Hypokalemic metabolic alkalosis xref: UMLS:C0740898 is_a: HP:0001949 ! Hypokalemic alkalosis is_a: HP:0200114 ! Metabolic alkalosis [Term] id: HP:0001961 name: Hypoplastic heart synonym: "Small heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped heart" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C3151525 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001962 name: Palpitations alt_id: HP:0001676 def: "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [https://orcid.org/0000-0002-0736-9199] synonym: "Heart palpitations" EXACT [] synonym: "Missed heart beat" EXACT layperson [] synonym: "Palpitations" EXACT layperson [] synonym: "Skipped heart beat" EXACT layperson [] xref: SNOMEDCT_US:80313002 xref: UMLS:C0030252 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001963 name: Abnormal speech discrimination def: "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal speech discrimination" EXACT layperson [] synonym: "Poor speech discrimination" EXACT layperson [] xref: UMLS:C1836752 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0001964 name: Aplasia/Hypoplasia of metatarsal bones def: "Absence or underdevelopment of the metatarsal bones." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent or hypoplastic metatarsal" EXACT [] synonym: "Absent/hypoplastic metacarpals" EXACT [] synonym: "Absent/hypoplastic metatarsals" EXACT [] synonym: "Absent/small long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped long bone of foot" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic/hypoplastic metatarsals" EXACT [] xref: UMLS:C1860182 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001965 name: Abnormal scalp morphology def: "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows." [https://orcid.org/0000-0002-0736-9199] comment: The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. synonym: "Abnormality of the scalp" EXACT layperson [] synonym: "Anomaly of scalp" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4025734 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0001966 name: Abnormal glomerular mesangium morphology def: "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries." [https://orcid.org/0000-0002-0736-9199, PMID:19470685, PMID:20828589] comment: Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. synonym: "Abnormality glomerular mesangium morphology" EXACT [] synonym: "Abnormality of the glomerular mesangium" EXACT [] synonym: "Mesangial abnormality" EXACT [] xref: UMLS:C4025733 is_a: HP:0000095 ! Abnormal renal glomerulus morphology [Term] id: HP:0001967 name: Diffuse mesangial sclerosis alt_id: HP:0004728 def: "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion." [https://orcid.org/0000-0002-0736-9199] comment: This finding can be demonstrated by renal biopsy. synonym: "Diffuse mesangial sclerosis glomerulopathy" EXACT [] synonym: "Mesangial sclerosis" EXACT [] xref: MSH:C537346 xref: SNOMEDCT_US:111406002 xref: UMLS:C0268747 is_a: HP:0001966 ! Abnormal glomerular mesangium morphology [Term] id: HP:0001969 name: Abnormal tubulointerstitial morphology alt_id: HP:0008654 def: "An abnormality that involves the tubules and interstitial tissue of the kidney." [https://orcid.org/0000-0002-0736-9199] synonym: "Tubulointerstitial abnormality" EXACT [] synonym: "Tubulointerstitial nephropathy" RELATED [] xref: MSH:D009395 xref: SNOMEDCT_US:28689008 xref: SNOMEDCT_US:428255004 xref: UMLS:C0041349 xref: UMLS:C4025732 is_a: HP:0000091 ! Abnormal renal tubule morphology is_a: HP:0032581 ! Abnormal renal insterstitial morphology [Term] id: HP:0001970 name: Tubulointerstitial nephritis def: "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [https://orcid.org/0000-0002-0736-9199] synonym: "Interstitial nephritis" EXACT [] synonym: "Nephritis, Tubulointerstitial" EXACT [] xref: MSH:D009395 xref: SNOMEDCT_US:28689008 xref: SNOMEDCT_US:428255004 xref: UMLS:C0041349 is_a: HP:0001969 ! Abnormal tubulointerstitial morphology [Term] id: HP:0001971 name: Hypersplenism def: "A malfunctioning of the spleen in which it prematurely destroys red blood cells." [https://orcid.org/0000-0002-0736-9199] comment: The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly). xref: MSH:D006971 xref: SNOMEDCT_US:58381000 xref: UMLS:C0020532 is_a: HP:0025409 ! Abnormal spleen physiology [Term] id: HP:0001972 name: Macrocytic anemia def: "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)." [https://orcid.org/0000-0002-0736-9199, PMID:19202968] comment: The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. synonym: "Macrocytic anaemia" EXACT uk_spelling [] xref: MSH:D000748 xref: SNOMEDCT_US:83414005 xref: UMLS:C0002886 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001973 name: Autoimmune thrombocytopenia alt_id: HP:0001936 alt_id: HP:0004806 alt_id: HP:0004829 def: "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies." [https://orcid.org/0000-0002-7744-1790] comment: Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial 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: MSH:D016553 xref: SNOMEDCT_US:128091003 xref: SNOMEDCT_US:13172003 xref: SNOMEDCT_US:234490009 xref: SNOMEDCT_US:32273002 xref: UMLS:C0242584 xref: UMLS:C0398650 xref: UMLS:C0920163 is_a: HP:0001873 ! Thrombocytopenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001974 name: Leukocytosis def: "An abnormal increase in the number of leukocytes in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated white blood count" EXACT layperson [] synonym: "High white blood count" EXACT layperson [] synonym: "Increased blood leukocyte number" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D007964 xref: SNOMEDCT_US:111583006 xref: UMLS:C0023518 is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0001975 name: Decreased platelet glycoprotein IIb-IIIa def: "Decreased cell membrane concentration of glycoprotein IIb-IIIa." [https://orcid.org/0000-0002-7744-1790] comment: The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. synonym: "Glanzmann thrombasthenia" RELATED [] synonym: "Reduced level of platelet glycoprotein IIb/IIIa complex" EXACT [] xref: MSH:D013915 xref: SNOMEDCT_US:32942005 xref: UMLS:C0040015 xref: UMLS:C4021767 is_a: HP:0011878 ! Abnormal platelet membrane protein expression [Term] id: HP:0001976 name: Reduced antithrombin III activity def: "An abnormality of coagulation related to a decreased concentration of antithrombin-III." [https://orcid.org/0000-0002-0736-9199] comment: Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. synonym: "Anti-thrombin III deficiency" EXACT [] synonym: "Antithrombin III deficiency" EXACT [] synonym: "Decreased antithrombin III" EXACT [] xref: MSH:D020152 xref: SNOMEDCT_US:36351005 xref: UMLS:C0272375 is_a: HP:0010988 ! Abnormality of the extrinsic pathway is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0001977 name: Abnormal thrombosis def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal blood clot" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Abnormal blood clotting" EXACT [] xref: UMLS:C4025731 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001978 name: Extramedullary hematopoiesis alt_id: HP:0004847 def: "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms." [https://orcid.org/0000-0002-0736-9199] comment: During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. synonym: "Extramedullary erythropoiesis" RELATED [] xref: SNOMEDCT_US:124958002 xref: SNOMEDCT_US:42952007 xref: UMLS:C1292120 xref: UMLS:C2613439 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001980 name: Megaloblastic bone marrow def: "Abnormal increased number of megaloblasts in the bone marrow." [https://orcid.org/0000-0002-0736-9199] comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. xref: SNOMEDCT_US:167921008 xref: UMLS:C0238801 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001981 name: Schistocytosis def: "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Schistocytes" EXACT [] xref: SNOMEDCT_US:385472000 xref: UMLS:C0344386 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001982 name: Sea-blue histiocytosis def: "An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa." [https://orcid.org/0000-0002-0736-9199, PMID:8797061] synonym: "Sea-blue histiocyte" EXACT [] xref: MSH:D012618 xref: SNOMEDCT_US:37821003 xref: UMLS:C0036489 is_a: HP:0004311 ! Abnormal macrophage morphology [Term] id: HP:0001983 name: Reduced lymphocyte surface expression of CD43 def: "A reduction in the expression of CD43 on the cell surface of lymphocytes." [https://orcid.org/0000-0002-0736-9199] comment: CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes. synonym: "Cd43 defectively expressed on surface of blood cells" EXACT [] synonym: "Reduced lymphocyte surface expression of sialophorin" EXACT [] xref: UMLS:C4021766 is_a: HP:0031383 ! Abnormal lymphocyte surface marker expression [Term] id: HP:0001984 name: Intolerance to protein xref: UMLS:C1396243 is_a: HP:0012537 ! Food intolerance [Term] id: HP:0001985 name: Hypoketotic hypoglycemia alt_id: HP:0005969 def: "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [https://orcid.org/0000-0002-0736-9199] comment: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. synonym: "Hypoglycemia, hypoketotic" EXACT [] xref: UMLS:C1856438 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001986 name: Hypertonic dehydration synonym: "Hyperosmolar dehydration" EXACT [] xref: UMLS:C1112601 is_a: HP:0001944 ! Dehydration [Term] id: HP:0001987 name: Hyperammonemia alt_id: HP:0008308 alt_id: HP:0008334 def: "An increased concentration of ammonia in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "High blood ammonia levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D022124 xref: SNOMEDCT_US:9360008 xref: UMLS:C0220994 is_a: HP:0002157 ! Azotemia [Term] id: HP:0001988 name: Recurrent hypoglycemia def: "Recurrent episodes of decreased concentration of glucose in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "hypoglycaemia, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "hypoglycemia, recurrent" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Hypoglycemic episodes" EXACT [] synonym: "Recurrent hypoglycaemia" EXACT [] synonym: "Recurrent hypoglycemic episodes" EXACT [] synonym: "Recurrent low blood sugar levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C1846288 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001989 name: Fetal akinesia sequence def: "Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Early severe fetal akinesia sequence" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Early severe foetal akinesia sequence" RELATED uk_spelling [] synonym: "Fetal akinesia" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Foetal akinesia" RELATED uk_spelling [] synonym: "Foetal akinesia sequence" EXACT uk_spelling [] xref: MSH:C536647 xref: SNOMEDCT_US:401138005 xref: UMLS:C1276035 xref: UMLS:C3151520 is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0001991 name: Aplasia/Hypoplasia of toe def: "Absence or hypoplasia of toes." [https://orcid.org/0000-0002-0736-9199] synonym: "Absent/hypoplastic toes" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Absent/small toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Absent/underdeveloped toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Aplastic/hypoplastic toe phalanges" EXACT [] xref: UMLS:C3551148 is_a: HP:0001780 ! Abnormal toe morphology is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001992 name: Organic aciduria def: "Excretion of non-amino organic acids in urine." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C0241775 is_a: HP:0012072 ! Aciduria [Term] id: HP:0001993 name: Ketoacidosis def: "Acidosis resulting from accumulation of ketone bodies." [https://orcid.org/0000-0002-0736-9199] comment: Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. xref: SNOMEDCT_US:56051008 xref: UMLS:C0220982 is_a: HP:0001941 ! Acidosis is_a: HP:0001946 ! Ketosis [Term] id: HP:0001994 name: Renal Fanconi syndrome def: "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [https://orcid.org/0000-0002-0736-9199] synonym: "De toni-fanconi-debre syndrome" EXACT [] synonym: "Renal tubular fanconi syndrome" EXACT [] xref: MSH:D005198 xref: SNOMEDCT_US:236468006 xref: SNOMEDCT_US:44673006 xref: UMLS:C0341703 is_a: HP:0001947 ! Renal tubular acidosis is_a: HP:0011038 ! Abnormal renal tubular resorption [Term] id: HP:0001995 name: Hyperchloremic acidosis def: "Acidosis (pH less than 7.35) that develops with an increase in ionic chloride." [PMID:29493965] xref: SNOMEDCT_US:18104000 xref: UMLS:C0085569 is_a: HP:0001941 ! Acidosis [Term] id: HP:0001996 name: Chronic metabolic acidosis def: "Longstanding metabolic acidosis." [https://orcid.org/0000-0002-0736-9199, PMID:15882309] comment: Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function. xref: UMLS:C0740749 is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0012468 ! Chronic acidosis [Term] id: HP:0001997 name: Gout alt_id: HP:0001368 def: "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues." [https://orcid.org/0009-0006-4530-3154] synonym: "Gouty arthritis" EXACT [] xref: MSH:D006073 xref: MSH:D015210 xref: SNOMEDCT_US:170733007 xref: SNOMEDCT_US:190828008 xref: SNOMEDCT_US:48440001 xref: SNOMEDCT_US:90560007 xref: UMLS:C0003868 xref: UMLS:C0018099 is_a: HP:0001369 ! Arthritis [Term] id: HP:0001998 name: Neonatal hypoglycemia synonym: "Low blood sugar in newborn" EXACT layperson [https://orcid.org/0000-0001-6908-9849] xref: SNOMEDCT_US:52767006 xref: UMLS:C0158986 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001999 name: Abnormal facial shape alt_id: HP:0002004 alt_id: HP:0002260 alt_id: HP:0004643 alt_id: HP:0004649 alt_id: HP:0004652 alt_id: HP:0004655 alt_id: HP:0004675 alt_id: HP:0005124 def: "An abnormal morphology (form) of the face or its components." [https://orcid.org/0000-0002-9602-2321] comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. subset: hposlim_core synonym: "Abnormal facial shape" EXACT layperson [] synonym: "Abnormal morphology of the face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Distinctive facies" EXACT [] synonym: "Distortion of face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Dysmorphic facial features" EXACT [] synonym: "Dysmorphic facies" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Facial dysmorphism" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Funny looking face" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Malformation of face" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unusual facial appearance" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Unusual facies" EXACT [] xref: SNOMEDCT_US:248200007 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 xref: SNOMEDCT_US:398302004 xref: UMLS:C0266617 xref: UMLS:C0424503 xref: UMLS:C1385263 xref: UMLS:C4072832 xref: UMLS:C4072833 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002000 name: Short columella def: "Reduced distance from the anterior border of the naris to the subnasale." [PMID:19152422] comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. subset: hposlim_core synonym: "Columella, short" EXACT [] synonym: "Decreased length of columella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hypoplasia of columella" RELATED [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1857479 xref: UMLS:C4280585 is_a: HP:0009929 ! Abnormal columella morphology [Term] id: HP:0002002 name: Deep philtrum alt_id: HP:0000305 alt_id: HP:0004654 def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [PMID:19152422] comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. subset: hposlim_core synonym: "Depressed philtrum" RELATED [] synonym: "Increased depth of philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Philtrum, deep" EXACT [] synonym: "Prominent philtrum" EXACT [] synonym: "Pronounced philtrum" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1839797 xref: UMLS:C4020861 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0002003 name: Large forehead synonym: "Hyperplasia of forehead" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Hypertrophy of forehead" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of forehead" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Increased size of frontal region of face" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Large forehead" EXACT layperson [] xref: UMLS:C1839783 xref: UMLS:C4280583 xref: UMLS:C4280584 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002006 name: Facial cleft def: "A congenital malformation with a cleft (gap or opening) in the face." [https://orcid.org/0000-0002-0736-9199] comment: The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations. subset: hposlim_core synonym: "Cleft of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Facial cleft" EXACT layperson [] synonym: "Facial clefts" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Tessier facial cleft" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:92821006 xref: UMLS:C0685787 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002007 name: Frontal bossing alt_id: HP:0000254 alt_id: HP:0000333 alt_id: HP:0001358 alt_id: HP:0001359 def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [PMID:19125436] comment: This is not the same as prominent forehead. subset: hposlim_core synonym: "Frontal protruberance" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Skull bossing" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:90145001 xref: UMLS:C0221354 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0011218 ! Abnormal shape of the frontal region [Term] id: HP:0002009 name: Potter facies def: "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose." [https://orcid.org/0000-0002-0736-9199] comment: Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. xref: SNOMEDCT_US:24814002 xref: UMLS:C0266619 is_a: HP:0011334 ! Facial shape deformation [Term] id: HP:0002010 name: Narrow maxilla synonym: "Decreased breadth of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased transverse dimension of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Decreased width of upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Narrow upper jaw bones" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse hypoplasia of maxilla" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse maxillary deficiency" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Transverse maxillary insufficiency" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1851835 is_a: HP:0000326 ! Abnormal maxilla morphology [Term] id: HP:0002011 name: Morphological central nervous system abnormality alt_id: HP:0002405 alt_id: HP:0002413 alt_id: HP:0002481 alt_id: HP:0007319 def: "A structural abnormality of the central nervous system." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the central nervous system" EXACT [] synonym: "Central nervous system disease" RELATED [] synonym: "Morphological abnormality of the central nervous system" EXACT [] synonym: "Morphological abnormality of the CNS" EXACT abbreviation [] xref: MSH:D002493 xref: SNOMEDCT_US:23853001 xref: UMLS:C0007682 xref: UMLS:C4021765 is_a: HP:0012639 ! Abnormal nervous system morphology [Term] id: HP:0002012 name: Abnormality of the abdominal organs def: "An abnormality of the viscera of the abdomen." [https://orcid.org/0000-0002-0736-9199] comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. synonym: "Abnormality of the abdominal organs" EXACT layperson [] synonym: "Gastrointestinal tract defects" EXACT [] xref: UMLS:C4021764 is_a: HP:0025031 ! Abnormality of the digestive system [Term] id: HP:0002013 name: Vomiting def: "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Emesis" EXACT [] synonym: "Throwing up" EXACT layperson [] synonym: "Vomiting" EXACT layperson [] xref: MEDDRA:10047700 "Vomiting" xref: MSH:D014839 xref: SNOMEDCT_US:249497008 xref: SNOMEDCT_US:300359004 xref: SNOMEDCT_US:422400008 xref: UMLS:C0042963 is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002014 name: Diarrhea def: "Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day." [https://orcid.org/0000-0002-0736-9199] synonym: "Diarrhea" EXACT layperson [] synonym: "Diarrhoea" EXACT uk_spelling [] synonym: "Watery stool" EXACT layperson [] xref: MSH:D003967 xref: SNOMEDCT_US:267060006 xref: SNOMEDCT_US:62315008 xref: UMLS:C0011991 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002015 name: Dysphagia alt_id: HP:0002569 def: "Difficulty in swallowing." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Deglutition disorder" RELATED [] synonym: "Difficulty swallowing" EXACT [] synonym: "Poor swallowing" EXACT layperson [] synonym: "Swallowing difficulties" EXACT layperson [] synonym: "Swallowing difficulty" EXACT layperson [] xref: MEDDRA:10013950 "Dysphagia" xref: MSH:D003680 xref: SNOMEDCT_US:288939007 xref: SNOMEDCT_US:40739000 xref: UMLS:C0011168 is_a: HP:0012638 ! Abnormal nervous system physiology is_a: HP:0025270 ! Abnormal esophagus physiology [Term] id: HP:0002017 name: Nausea and vomiting def: "Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea." [PMID:26770271] synonym: "Nausea and vomiting" EXACT layperson [] xref: SNOMEDCT_US:16932000 xref: UMLS:C0027498 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002018 name: Nausea def: "A sensation of unease in the stomach together with an urge to vomit." [https://orcid.org/0000-0002-0736-9199, PMID:26770271] subset: hposlim_core synonym: "Nausea" EXACT layperson [] xref: MEDDRA:10028813 "Nausea" xref: MSH:D009325 xref: SNOMEDCT_US:422587007 xref: UMLS:C0027497 is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002019 name: Constipation alt_id: HP:0002241 alt_id: HP:0003786 def: "Infrequent or difficult evacuation of feces." [https://orcid.org/0000-0002-0736-9199] synonym: "Constipation" EXACT layperson [] synonym: "Costiveness" EXACT [] synonym: "Dyschezia" EXACT [] xref: MSH:D003248 xref: SNOMEDCT_US:14760008 xref: SNOMEDCT_US:225595004 xref: UMLS:C0009806 xref: UMLS:C0237326 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002020 name: Gastroesophageal reflux alt_id: HP:0004793 def: "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Acid reflux" EXACT layperson [] synonym: "Acid reflux disease" EXACT layperson [] synonym: "Gastro-esophageal reflux" EXACT [] synonym: "Gastro-oesophageal reflux" EXACT uk_spelling [] synonym: "Gastroesophageal reflux disease" EXACT [] synonym: "GERD" EXACT abbreviation [https://orcid.org/0000-0002-5316-1399] synonym: "Heartburn" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D005764 xref: MSH:D006356 xref: SNOMEDCT_US:16331000 xref: SNOMEDCT_US:235595009 xref: SNOMEDCT_US:698065002 xref: UMLS:C0017168 xref: UMLS:C0018834 is_a: HP:0025270 ! Abnormal esophagus physiology [Term] id: HP:0002021 name: Pyloric stenosis def: "Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss." [https://orcid.org/0000-0002-0736-9199, PMID:32310391] comment: Pyloric stenosis occurs in the first few months of life. subset: hposlim_core synonym: "Infantile hypertrophic pyloric stenosis" EXACT [] synonym: "Pylorus stenosis" EXACT [] xref: Fyler:4444 xref: MEDDRA:10037621 "Pyloric stenosis" xref: MSH:D011707 xref: SNOMEDCT_US:367403001 xref: UMLS:C0034194 is_a: HP:0004400 ! Abnormality of the pylorus [Term] id: HP:0002023 name: Anal atresia alt_id: HP:0001550 def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent anus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Imperforate anus" RELATED [] xref: Fyler:4402 xref: Fyler:4443 xref: MEDDRA:10002120 "Anal atresia" xref: MSH:D001006 xref: SNOMEDCT_US:204712000 xref: SNOMEDCT_US:204731006 xref: UMLS:C0003466 is_a: HP: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:0002242 ! Abnormal intestine morphology [Term] id: HP:0002025 name: Anal stenosis def: "Abnormal narrowing of the anal opening." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Narrowing of anal opening" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10002176 "Anal stenosis" xref: SNOMEDCT_US:250037002 xref: SNOMEDCT_US:69914001 xref: UMLS:C0262374 is_a: HP: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: MSH:D015746 xref: SNOMEDCT_US:21522001 xref: UMLS:C0000737 is_a: HP:0011458 ! Abdominal symptom is_a: HP:0012531 ! Pain [Term] id: HP:0002028 name: Chronic diarrhea def: "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [https://orcid.org/0000-0002-0736-9199] synonym: "Chronic diarrhea" EXACT layperson [] synonym: "Chronic diarrhoea" EXACT uk_spelling [] synonym: "Diarrhea, recurrent" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent diarrhea" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Recurrent diarrhoea" RELATED uk_spelling [] xref: SNOMEDCT_US:236071009 xref: UMLS:C0401151 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002031 name: Abnormal esophagus morphology def: "A structural abnormality of the esophagus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal oesophagus morphology" EXACT uk_spelling [] synonym: "Abnormality of esophagus structure" EXACT layperson [] synonym: "Abnormality of oesophagus structure" EXACT uk_spelling [] synonym: "Anomaly of the esophagus" EXACT [] synonym: "Anomaly of the oesophagus" EXACT uk_spelling [] xref: SNOMEDCT_US:69771008 xref: UMLS:C0266126 is_a: HP:0012718 ! 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: MSH:D004933 xref: SNOMEDCT_US:26179002 xref: UMLS:C0014850 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0002589 ! Gastrointestinal atresia [Term] id: HP:0002033 name: Poor suck def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [https://orcid.org/0000-0002-0736-9199] synonym: "Poor suck" EXACT layperson [] synonym: "Poor sucking" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Sucking weakness" EXACT [] xref: UMLS:C1837142 is_a: HP:0008872 ! Feeding difficulties in infancy [Term] id: HP:0002034 name: Abnormal rectum morphology def: "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the rectum" EXACT layperson [] synonym: "Anomaly of the rectum" EXACT layperson [] xref: SNOMEDCT_US:86993003 xref: UMLS:C0266210 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0012732 ! Anorectal anomaly [Term] id: HP:0002035 name: Rectal prolapse def: "Protrusion of the rectal mucous membrane through the anus." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Rectal prolapsed" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Rectum protrudes through anus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10038077 "Rectal prolapse" xref: MSH:D012005 xref: SNOMEDCT_US:57773001 xref: UMLS:C0034888 is_a: HP:0002034 ! Abnormal rectum morphology [Term] id: HP:0002036 name: Hiatus hernia def: "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [https://orcid.org/0000-0002-0736-9199] comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). subset: hposlim_core synonym: "Hiatal hernia" EXACT [] synonym: "Stomach hernia" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MEDDRA:10020028 "Hiatus hernia" xref: MSH:D006551 xref: SNOMEDCT_US:84089009 xref: UMLS:C3489393 is_a: HP:0002577 ! Abnormal stomach morphology is_a: HP:0100790 ! Hernia property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0736-9199 creation_date: 2008-02-20T11:28:00Z [Term] id: HP:0002037 name: Inflammation of the large intestine def: "Inflammation, or an inflammatory state in the large intestine." [] synonym: "Inflammation of the large intestine" EXACT layperson [] synonym: "Inflammatory bowel disease" RELATED layperson [] xref: MSH:D015212 xref: SNOMEDCT_US:24526004 xref: SNOMEDCT_US:302168000 xref: UMLS:C0021390 xref: UMLS:C0578878 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0004386 ! Gastrointestinal inflammation [Term] id: HP:0002038 name: Protein avoidance xref: UMLS:C1839531 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002039 name: Anorexia def: "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: MSH:D000855 xref: SNOMEDCT_US:79890006 xref: UMLS:C0003123 is_a: HP:0011458 ! Abdominal symptom is_a: HP:0040202 ! Abnormal consumption behavior property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-6624-2975 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2984-1124 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4691-7362 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-6581-7754 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-7674-1767 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-2598-6622 property_value: http://purl.org/dc/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: MSH:D004932 xref: SNOMEDCT_US:28670008 xref: UMLS:C0014867 is_a: HP:0002031 ! Abnormal esophagus morphology [Term] id: HP:0002041 name: Intractable diarrhea synonym: "Intractable diarrhoea" EXACT uk_spelling [] xref: UMLS:C0743178 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002043 name: Esophageal stricture def: "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [https://orcid.org/0000-0002-0736-9199] comment: Gastroesophageal reflux is a common cause of esophageal stricture. synonym: "Narrowing of esophagus due to inflammation and scar tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Narrowing of oesophagus due to inflammation and scar tissue" EXACT uk_spelling [] xref: MSH:D004940 xref: SNOMEDCT_US:63305008 xref: UMLS:C0014866 is_a: HP:0010450 ! Esophageal stenosis [Term] id: HP:0002044 name: Zollinger-Ellison syndrome def: "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration." [https://orcid.org/0000-0002-0736-9199] comment: Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. subset: hposlim_core xref: MEDDRA:10048281 "Zollinger-Ellison syndrome" xref: MSH:D015043 xref: SNOMEDCT_US:53132006 xref: UMLS:C0043515 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0002045 name: Hypothermia def: "Reduced body temperature due to failed thermoregulation." [https://orcid.org/0009-0006-4530-3154] comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). synonym: "Abnormally low body temperature" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypothermia" EXACT layperson [] xref: MSH:D007035 xref: SNOMEDCT_US:386689009 xref: UMLS:C0020672 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002046 name: Heat intolerance def: "The inability to maintain a comfortable body temperature in warm or hot weather." [https://orcid.org/0000-0002-0736-9199] comment: Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. subset: hposlim_core synonym: "Heat intolerance" EXACT layperson [] synonym: "Intolerance to heat and fevers" EXACT layperson [] xref: SNOMEDCT_US:69215007 xref: UMLS:C0231274 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002047 name: Malignant hyperthermia alt_id: HP:0004896 def: "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. 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: MSH:D008305 xref: SNOMEDCT_US:213026003 xref: SNOMEDCT_US:405501007 xref: UMLS:C0024591 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002048 name: Renal cortical atrophy def: "Atrophy of the cortex of the kidney." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C4025730 is_a: HP:0011035 ! Abnormal renal cortex morphology is_a: HP:0012585 ! Renal atrophy [Term] id: HP:0002049 name: Proximal renal tubular acidosis def: "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia." [https://orcid.org/0000-0002-0736-9199] synonym: "Proximal tubular acidosis" EXACT [] synonym: "Renal tubular acidosis, proximal" EXACT [] synonym: "Renal tubular acidosis, type II" EXACT [] xref: MSH:D000141 xref: SNOMEDCT_US:24790002 xref: UMLS:C0268435 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0002050 name: Macroorchidism, postpubertal xref: UMLS:C1839782 is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0002054 name: Heavy supraorbital ridges synonym: "Heavy brow of the face" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Heavy supraorbital ridge" EXACT [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1845107 is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0002055 name: Curved linear dimple below the lower lip xref: UMLS:C1844572 is_a: HP:0000178 ! Abnormal lower lip morphology [Term] id: HP:0002056 name: Abnormality of the glabella def: "An abnormality of the glabella." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Deformity of the area between the eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Glabellar abnormality" EXACT [] synonym: "Malformation of the area between the eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4021763 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002057 name: Prominent glabella def: "Forward protrusion of the glabella." [https://orcid.org/0000-0002-0736-9199, PMID:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. subset: hposlim_core synonym: "Convex glabella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Hyperplasia of glabella" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Prominent area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Protruding area between the eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] xref: UMLS:C1860247 is_a: HP:0002056 ! Abnormality of the glabella [Term] id: HP:0002058 name: Myopathic facies alt_id: HP:0004647 def: "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [https://orcid.org/0000-0002-0736-9199] synonym: "Myopathic face" EXACT [] synonym: "Myopathic facial appearance" EXACT [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:26432009 xref: UMLS:C0332615 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0002059 name: Cerebral atrophy alt_id: HP:0002422 alt_id: HP:0006890 def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [https://orcid.org/0009-0006-4530-3154] comment: Atrophy may be progressive over time. synonym: "Degeneration of cerebrum" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Supratentorial atrophy" RELATED [] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 xref: UMLS:C0235946 xref: UMLS:C4020860 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0002060 name: Abnormal cerebral morphology def: "Any structural abnormality of the telencephalon, which is also known as the cerebrum." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cerebrum" EXACT [] synonym: "Abnormality of the telencephalon" EXACT [] synonym: "Cerebral lesion" EXACT [] xref: UMLS:C4021762 is_a: HP:0100547 ! Abnormal forebrain morphology [Term] id: HP:0002061 name: Lower limb spasticity def: "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis" [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:394679006 xref: UMLS:C1271100 is_a: HP:0034353 ! Appendicular spasticity [Term] id: HP:0002062 name: 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: MSH:D009127 xref: SNOMEDCT_US:16046003 xref: UMLS:C0026837 is_a: HP:0001276 ! Hypertonia [Term] id: HP:0002064 name: Spastic gait def: "Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg." [PMID:25649546] synonym: "Spastic walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:9447003 xref: UMLS:C0231687 is_a: HP:0001257 ! Spasticity is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002066 name: Gait ataxia alt_id: HP:0002379 def: "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199] synonym: "Ataxia of gait" EXACT [] synonym: "Ataxic gait" EXACT [] synonym: "Inability to coordinate movements when walking" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D020234 xref: SNOMEDCT_US:25136009 xref: UMLS:C0751837 is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002067 name: Bradykinesia def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [https://orcid.org/0000-0002-0736-9199] synonym: "Slow movements" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Slowness of movements" EXACT layperson [] xref: MSH:D018476 xref: SNOMEDCT_US:399317006 xref: UMLS:C0233565 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002068 name: Neuromuscular dysphagia xref: UMLS:C4025729 is_a: HP:0002015 ! Dysphagia [Term] id: HP:0002069 name: Bilateral tonic-clonic seizure alt_id: HP:0001306 alt_id: HP:0002407 alt_id: HP:0007252 def: "A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [https://orcid.org/0000-0002-0736-9199, PMID:28276060] comment: A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. synonym: "Bilateral convulsive seizures" EXACT [] synonym: "Generalised convulsion" EXACT uk_spelling [] synonym: "Generalised tonic-clonic seizure (without specification of onset)" EXACT [] synonym: "Generalized convulsion" EXACT [] synonym: "Generalized tonic-clonic seizure (without specification of onset)" EXACT [] synonym: "Grand mal" EXACT [] synonym: "Grand mal seizures" EXACT layperson [] synonym: "Seizures, tonic-clonic" EXACT [] synonym: "Tonic-clonic convulsion" EXACT [https://orcid.org/0000-0002-5316-1399] synonym: "Tonic-clonic convulsions" EXACT plural_form [https://orcid.org/0000-0002-5316-1399] xref: MSH:D012640 xref: SNOMEDCT_US:54200006 xref: UMLS:C0494475 is_a: HP:0001250 ! Seizure [Term] id: HP:0002070 name: Limb ataxia def: "A kind of ataxia that affects movements of the extremities." [https://orcid.org/0000-0002-0736-9199] comment: Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. synonym: "Appendicular ataxia" EXACT [] xref: MSH:D001259 xref: UMLS:C0750937 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002071 name: Abnormality of extrapyramidal motor function alt_id: HP:0006810 alt_id: HP:0007113 def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [https://orcid.org/0000-0002-0736-9199] comment: The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. synonym: "Extrapyramidal dysfunction" EXACT [] synonym: "Extrapyramidal signs" EXACT [] synonym: "Extrapyramidal symptoms" EXACT [] synonym: "Extrapyramidal syndrome" EXACT [] synonym: "Extrapyramidal tract signs" EXACT [] xref: MSH:D001480 xref: SNOMEDCT_US:43378000 xref: SNOMEDCT_US:76349003 xref: UMLS:C0015371 xref: UMLS:C0234133 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002072 name: Chorea alt_id: HP:0002397 def: "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities." [https://orcid.org/0000-0002-0736-9199, PMID:20589866] synonym: "Choreatic disease" RELATED [] synonym: "Choreic movements" EXACT [] synonym: "Choreiform movements" EXACT [] xref: MSH:D002819 xref: SNOMEDCT_US:271700006 xref: UMLS:C0008489 xref: UMLS:C4020858 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002073 name: Progressive cerebellar ataxia alt_id: HP:0001329 alt_id: HP:0002496 alt_id: HP:0007331 synonym: "Cerebellar ataxia, progressive" EXACT [] synonym: "Progressive ataxia" EXACT [] xref: SNOMEDCT_US:230233000 xref: UMLS:C0393525 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002074 name: Increased neuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [https://orcid.org/0000-0002-0736-9199, PMID:11406682] synonym: "Neuronal lipopigments" RELATED [] xref: UMLS:C4020857 xref: UMLS:C4025728 is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0002075 name: Dysdiadochokinesis alt_id: HP:0002426 def: "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO_CONTRIBUTOR:UKB_tklockgether, HPO_CONTRIBUTOR:zaferyueksel, https://orcid.org/0000-0002-0736-9199] comment: Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. synonym: "Difficulty performing quick and alternating movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Dysdiadochokinesia" EXACT [] xref: SNOMEDCT_US:23133003 xref: UMLS:C0234979 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002076 name: Migraine alt_id: HP:0007194 def: "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [https://orcid.org/0000-0002-0736-9199, PMID:15304572] synonym: "Intermittent migraine headaches" EXACT layperson [] synonym: "Migraine" EXACT layperson [] synonym: "Migraine headache" EXACT layperson [] synonym: "Migraine headaches" EXACT layperson [] xref: MSH:D008881 xref: SNOMEDCT_US:37796009 xref: UMLS:C0149931 xref: UMLS:C0744641 is_a: HP:0002315 ! Headache [Term] id: HP:0002077 name: Migraine with aura def: "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." [https://orcid.org/0000-0002-0736-9199, PMID:15304572] xref: MSH:D020325 xref: SNOMEDCT_US:4473006 xref: UMLS:C0154723 is_a: HP:0002076 ! Migraine [Term] id: HP:0002078 name: Truncal ataxia alt_id: HP:0007014 def: "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting." [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199] comment: Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. synonym: "Instability or lack of coordination of central trunk muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Trunk ataxia" EXACT [] xref: MSH:D001259 xref: SNOMEDCT_US:250067008 xref: UMLS:C0427190 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002079 name: Hypoplasia of the corpus callosum alt_id: HP:0002319 alt_id: HP:0007026 def: "Underdevelopment of the corpus callosum." [https://orcid.org/0000-0002-0736-9199, PMID:21263138] comment: The corpus callosum appears thin in midline views of the brain in neuroradiological images. synonym: "Corpus callosum hypoplasia" EXACT [] synonym: "Hypoplasia of corpus callosum" EXACT [] synonym: "Hypoplastic corpus callosum" EXACT [] synonym: "Underdevelopment of part of brain called corpus callosum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:204043002 xref: UMLS:C0344482 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0002080 name: Intention tremor def: "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [https://orcid.org/0000-0002-0736-9199, PMID:16344298] synonym: "Cerebellar tremor" RELATED [] synonym: "Terminal tremor" RELATED [] xref: MSH:D014202 xref: SNOMEDCT_US:30721006 xref: UMLS:C0234376 xref: UMLS:C4020856 is_a: HP:0030186 ! Kinetic tremor [Term] id: HP:0002083 name: Migraine without aura def: "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia." [https://orcid.org/0000-0002-0736-9199, PMID:15304572] comment: The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (PMID:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. xref: MSH:D020326 xref: SNOMEDCT_US:56097005 xref: UMLS:C0338480 is_a: HP:0002076 ! Migraine [Term] id: HP:0002084 name: Encephalocele alt_id: HP:0002736 alt_id: HP:0100664 def: "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [https://orcid.org/0000-0002-0736-9199] comment: A congenital gap in the skull that usually results in a protrusion of brain material. synonym: "Bifid skull" EXACT [] synonym: "Cranium bifidum" EXACT [] xref: MSH:D004677 xref: SNOMEDCT_US:253101008 xref: SNOMEDCT_US:48777005 xref: SNOMEDCT_US:55999004 xref: UMLS:C0014065 is_a: HP:0011815 ! Cephalocele is_a: HP:0034237 ! Open neural tube defect [Term] id: HP:0002085 name: Occipital encephalocele alt_id: HP:0007051 alt_id: HP:0007357 def: "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp." [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481] synonym: "Brain tissue sticks out through back of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Occipital meningoencephalocele" EXACT [] synonym: "Posterior encephalocele" EXACT [] xref: MSH:D004677 xref: SNOMEDCT_US:42376006 xref: UMLS:C0014067 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0002086 name: Abnormality of the respiratory system def: "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [https://orcid.org/0000-0002-0736-9199] synonym: "Respiratory abnormality" EXACT [] xref: UMLS:C4018871 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002087 name: Abnormality of the upper respiratory tract def: "An abnormality of the upper respiratory tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the upper respiratory tract" EXACT layperson [] synonym: "Upper respiratory tract issues" EXACT layperson [] xref: UMLS:C4025727 is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0002088 name: Abnormal lung morphology def: "Any structural anomaly of the lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of lung structure" EXACT layperson [] synonym: "Abnormality of the lungs" EXACT layperson [] synonym: "Abnormally shaped lung" EXACT layperson [] synonym: "Lung disease" RELATED layperson [] synonym: "Unusal lung shape" EXACT layperson [] xref: MSH:D008171 xref: SNOMEDCT_US:19829001 xref: UMLS:C0024115 xref: UMLS:C4021760 is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0002089 name: Pulmonary hypoplasia synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] synonym: "Poorly developed lungs" EXACT layperson [] synonym: "Small lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Underdeveloped lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:80825009 xref: UMLS:C0265783 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0002090 name: Pneumonia def: "Inflammation of any part of the lung parenchyma." [https://orcid.org/0000-0002-0736-9199] synonym: "Pneumonia" EXACT layperson [] xref: MSH:D011014 xref: SNOMEDCT_US:233604007 xref: UMLS:C0032285 is_a: HP:0011947 ! Respiratory tract infection is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0002091 name: Restrictive ventilatory defect alt_id: HP:0002111 def: "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus." [https://orcid.org/0000-0003-4546-6667, PMID:28194273] comment: The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. synonym: "Restrictive deficit on pulmonary function testing" EXACT [] synonym: "Restrictive deficit on pulmonary function tests" EXACT [] synonym: "Restrictive lung disease" RELATED [https://orcid.org/0000-0001-5208-3432] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory insufficiency" EXACT [] synonym: "Restrictive respiratory syndrome" EXACT [] synonym: "Spirometric restriction" EXACT [] synonym: "Stiff lung or chest wall causing decreased lung volume" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:36485005 xref: UMLS:C0085581 xref: UMLS:C3277226 is_a: HP:0030878 ! Abnormality on pulmonary function testing [Term] id: HP:0002092 name: Pulmonary arterial hypertension alt_id: HP:0006546 def: "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position." [https://orcid.org/0000-0002-0736-9199] comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. synonym: "Increased blood pressure in blood vessels of lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Primary pulmonary hypertension" RELATED [https://orcid.org/0000-0002-5316-1399] synonym: "Pulmonary artery hypertension" EXACT [] xref: MSH:D006976 xref: MSH:D065627 xref: SNOMEDCT_US:11399002 xref: SNOMEDCT_US:697898008 xref: SNOMEDCT_US:70995007 xref: UMLS:C0020542 xref: UMLS:C2973725 xref: UMLS:C3203102 is_a: HP:0033578 ! Pre-capillary pulmonary hypertension [Term] id: HP:0002093 name: Respiratory insufficiency alt_id: HP:0004893 alt_id: HP:0005937 alt_id: HP:0006542 synonym: "Respiratory function loss" RELATED layperson [] synonym: "Respiratory impairment" EXACT layperson [] xref: MSH:D012131 xref: SNOMEDCT_US:409623005 xref: UMLS:C0035229 xref: UMLS:C4020855 is_a: HP:0002795 ! Abnormal respiratory system physiology [Term] id: HP:0002094 name: Dyspnea def: "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale." [https://orcid.org/0000-0002-0736-9199, PMID:16914301] synonym: "Abnormal breathing" EXACT [] synonym: "Breathing difficulty" EXACT layperson [] synonym: "Difficult to breathe" EXACT layperson [] synonym: "Difficulty breathing" EXACT layperson [] synonym: "Dyspnoea" EXACT uk_spelling [] synonym: "Panting" RELATED layperson [] synonym: "Shortness of breath" EXACT layperson [] synonym: "Trouble breathing" EXACT layperson [] xref: MSH:D004417 xref: SNOMEDCT_US:230145002 xref: SNOMEDCT_US:267036007 xref: UMLS:C0013404 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002097 name: Emphysema alt_id: HP:0006534 synonym: "Pulmonary emphysema" EXACT [] xref: MSH:D011656 xref: SNOMEDCT_US:87433001 xref: UMLS:C0034067 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002098 name: Respiratory distress alt_id: HP:0002880 def: "Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." [] synonym: "Breathing difficulties" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Labored breathing" EXACT layperson [] synonym: "Laboured breathing" EXACT uk_spelling [] synonym: "Respiratory difficulties" EXACT [] xref: MSH:D004417 xref: SNOMEDCT_US:230145002 xref: SNOMEDCT_US:267036007 xref: SNOMEDCT_US:271825005 xref: UMLS:C0013404 xref: UMLS:C0476273 is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002099 name: Asthma alt_id: HP:0002112 def: "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [https://orcid.org/0000-0002-0736-9199] synonym: "Asthma" EXACT layperson [] synonym: "Bronchial asthma" EXACT [] synonym: "Reactive airway disease" RELATED [] xref: MSH:D001249 xref: SNOMEDCT_US:195967001 xref: SNOMEDCT_US:991000119106 xref: UMLS:C0004096 xref: UMLS:C3714497 is_a: HP:0002795 ! Abnormal respiratory system physiology is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002100 name: Recurrent aspiration pneumonia alt_id: HP:0002106 def: "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia." [https://orcid.org/0000-0002-0736-9199] synonym: "Recurrent pneumonia due to aspiration," EXACT [] xref: SNOMEDCT_US:430969000 xref: UMLS:C0747651 is_a: HP:0011951 ! Aspiration pneumonia [Term] id: HP:0002101 name: Abnormal lung lobation alt_id: HP:0006525 alt_id: HP:0009753 def: "A developmental defect in the formation of pulmonary lobes." [https://orcid.org/0000-0002-0736-9199] synonym: "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: MSH:D010998 xref: SNOMEDCT_US:196075003 xref: UMLS:C0032231 is_a: HP:0002103 ! Abnormal pleura morphology [Term] id: HP:0002103 name: Abnormal pleura morphology def: "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the pleura" EXACT [] xref: UMLS:C4025726 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002104 name: Apnea alt_id: HP:0005936 alt_id: HP:0005958 def: "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [https://orcid.org/0000-0002-0736-9199] synonym: "Absence of spontaneous respiration" EXACT [] synonym: "Apneic episodes" EXACT [] synonym: "Apnoea" EXACT [] xref: MSH:D001049 xref: SNOMEDCT_US:1023001 xref: SNOMEDCT_US:248583008 xref: UMLS:C0003578 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002105 name: Hemoptysis def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [https://orcid.org/0000-0002-0736-9199] synonym: "Coughing up blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Coughing up blood or blood-stained mucus" RELATED layperson [] synonym: "Haemoptysis" EXACT uk_spelling [] xref: MSH:D006469 xref: SNOMEDCT_US:66857006 xref: SNOMEDCT_US:6686005 xref: UMLS:C0019079 is_a: HP:0032016 ! Abnormal sputum [Term] id: HP:0002107 name: Pneumothorax def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Collapsed lung" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D011030 xref: SNOMEDCT_US:36118008 xref: UMLS:C0032326 is_a: HP:0002103 ! Abnormal pleura morphology [Term] id: HP:0002108 name: Spontaneous pneumothorax def: "Pneumothorax occurring without traumatic injury to the chest or lung." [https://orcid.org/0000-0002-0736-9199] synonym: "Spontaneous collapsed lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D011030 xref: SNOMEDCT_US:80423007 xref: UMLS:C0149781 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0002109 name: obsolete Abnormality of the bronchi is_obsolete: true replaced_by: HP:0025426 [Term] id: HP:0002110 name: Bronchiectasis def: "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [https://orcid.org/0000-0002-0736-9199] synonym: "Permanent enlargement of the airways of the lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D001987 xref: SNOMEDCT_US:12295008 xref: UMLS:C0006267 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0002111 name: obsolete Restrictive deficit on pulmonary function testing is_obsolete: true replaced_by: HP:0002091 [Term] id: HP:0002113 name: Pulmonary infiltrates synonym: "Lung infiltrates" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Pulmonic infiltration" EXACT [] xref: UMLS:C0235896 is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding [Term] id: HP:0002118 name: Abnormal cerebral ventricle morphology def: "Any structural abnormality of the cerebral ventricles." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the cerebral ventricles" EXACT [] xref: UMLS:C4025724 is_a: HP:0012443 ! 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 characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features." [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064] comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. synonym: "Absence seizure" EXACT [] synonym: "Absence seizures" EXACT plural_form [] synonym: "Brief seizures with staring spells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Generalised non-motor (absence) seizure" EXACT uk_spelling [] synonym: "Generalised non-motor seizure" EXACT uk_spelling [] synonym: "Petit mal" EXACT [] synonym: "Petit mal seizure" EXACT [] synonym: "Petit mal seizures" EXACT plural_form [] xref: MSH:D004832 xref: SNOMEDCT_US:230413002 xref: SNOMEDCT_US:432241000124101 xref: SNOMEDCT_US:50866000 xref: SNOMEDCT_US:79631006 xref: UMLS:C0014553 is_a: HP:0002197 ! Generalized-onset seizure is_a: HP:0011146 ! Dialeptic seizure is_a: HP:0033259 ! Non-motor seizure [Term] id: HP:0002123 name: Generalized myoclonic seizure alt_id: HP:0006869 alt_id: HP:0006902 alt_id: HP:0007075 alt_id: HP:0007202 alt_id: HP:0007284 alt_id: HP:0007294 def: "A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus." [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064] synonym: "Generalised epileptic myoclonus" EXACT [] synonym: "Generalised myoclonic seizure" EXACT [] synonym: "Generalised myoclonic seizures" EXACT uk_spelling [] synonym: "Generalized epileptic myoclonus" EXACT [] synonym: "Generalized myoclonic seizures" EXACT plural_form [] synonym: "Myoclonic epilepsy, progressive" RELATED [] synonym: "Myoclonus seizures" EXACT [] xref: MSH:D004831 xref: MSH:D020191 xref: SNOMEDCT_US:192992007 xref: SNOMEDCT_US:267581004 xref: SNOMEDCT_US:37356005 xref: UMLS:C0014550 xref: UMLS:C0751778 xref: UMLS:C4021759 is_a: HP:0032677 ! Generalized-onset motor seizure is_a: HP:0032794 ! Myoclonic seizure [Term] id: HP:0002126 name: Polymicrogyria def: "Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:24888723] comment: Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. synonym: "More grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D065706 xref: SNOMEDCT_US:4945003 xref: UMLS:C0266464 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0002127 name: Abnormal upper motor neuron morphology def: "Any structural anomaly that affects the upper motor neuron." [] comment: previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) synonym: "Abnormal shape of upper motor neuron" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4025723 is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0002131 name: Episodic ataxia alt_id: HP:0006862 alt_id: HP:0007152 alt_id: HP:0007214 def: "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days." [https://orcid.org/0000-0002-0736-9199] synonym: "Intermittent cerebellar ataxia" EXACT [] synonym: "Paroxysmal ataxia" EXACT [] xref: MSH:C580065 xref: SNOMEDCT_US:421455009 xref: UMLS:C1720189 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002132 name: Porencephalic cyst def: "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system." [https://orcid.org/0000-0002-0736-9199, PMID:9279052] comment: Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies. synonym: "Cavity within brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D065708 xref: UMLS:C4082173 is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0002133 name: Status epilepticus def: "Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures." [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1735-8178, PMID:26336950, PMID:28276060] comment: In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. synonym: "Prolonged seizure" EXACT [] synonym: "Repeated seizure without recovery" EXACT [] synonym: "Repeated seizures without recovery between them" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D013226 xref: SNOMEDCT_US:230456007 xref: UMLS:C0038220 is_a: HP:0001250 ! Seizure [Term] id: HP:0002134 name: Abnormal basal ganglia morphology alt_id: HP:0006952 alt_id: HP:0007257 def: "Abnormality of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] comment: The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. synonym: "Abnormality of the basal ganglia" EXACT [] synonym: "Anomaly of the basal ganglia" EXACT [] synonym: "Basal ganglia disease" EXACT [] xref: MSH:D001480 xref: SNOMEDCT_US:70835005 xref: UMLS:C0004782 is_a: HP:0010993 ! Abnormal cerebral subcortex morphology [Term] id: HP:0002135 name: Basal ganglia calcification alt_id: HP:0002485 def: "The presence of calcium deposition affecting one or more structures of the basal ganglia." [https://orcid.org/0000-0002-0736-9199] synonym: "Basal ganglia calcifications" EXACT [] synonym: "Basal ganglion calcification" EXACT [] synonym: "Calcification of the basal ganglia" EXACT [] xref: UMLS:C1389280 is_a: HP:0002134 ! Abnormal basal ganglia morphology is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0002136 name: Broad-based gait def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [https://orcid.org/0000-0002-0736-9199] synonym: "Broad based gait" EXACT [] synonym: "Wide based gait" EXACT [] synonym: "Wide based walk" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Wide-based gait" EXACT [] xref: UMLS:C0856863 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002138 name: Subarachnoid hemorrhage def: "Hemorrhage occurring between the arachnoid mater and the pia mater." [https://orcid.org/0009-0006-4530-3154] comment: Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. synonym: "Subarachnoid haemorrhage" EXACT [] xref: MSH:D013345 xref: SNOMEDCT_US:21454007 xref: UMLS:C0038525 is_a: HP:0002170 ! Intracranial hemorrhage is_a: HP:0012703 ! Abnormal subarachnoid space morphology [Term] id: HP:0002139 name: Arrhinencephaly 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: MSH:D016142 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: MSH:D013118 xref: SNOMEDCT_US:48522003 xref: UMLS:C0037928 xref: UMLS:C4025722 is_a: HP:0002011 ! Morphological central nervous system abnormality [Term] id: HP:0002144 name: Tethered cord def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [https://orcid.org/0000-0002-0736-9199] synonym: "Occult spinal dysraphism" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MSH:D009436 xref: SNOMEDCT_US:70534000 xref: UMLS:C0080218 is_a: HP:0031938 ! Abnormal conus terminalis morphology [Term] id: HP:0002145 name: Frontotemporal dementia def: "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders." [https://orcid.org/0000-0002-0736-9199, PMID:24966676] xref: MSH:D057180 xref: SNOMEDCT_US:230270009 xref: UMLS:C0338451 is_a: HP:0000726 ! Dementia [Term] id: HP:0002148 name: Hypophosphatemia def: "An abnormally decreased phosphate concentration in the blood." [HPO_CONTRIBUTOR:gcarletti] synonym: "Hypophosphataemia" EXACT [] synonym: "Low blood phosphate level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D017674 xref: SNOMEDCT_US:4996001 xref: UMLS:C0085682 is_a: HP:0100529 ! Abnormal blood phosphate concentration [Term] id: HP:0002149 name: Hyperuricemia def: "An abnormally high level of uric acid in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "High blood uric acid level" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperuricaemia" EXACT [] xref: MSH:D033461 xref: SNOMEDCT_US:35885006 xref: UMLS:C0740394 is_a: HP:0002157 ! Azotemia is_a: HP:0010932 ! Abnormal circulating nucleobase concentration [Term] id: HP:0002150 name: Hypercalciuria synonym: "Elevated urine calcium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hypercalcinuria" EXACT [] xref: MSH:D053565 xref: SNOMEDCT_US:71938000 xref: UMLS:C0020438 is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0002151 name: Increased serum lactate alt_id: HP:0003638 def: "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35)." [https://orcid.org/0000-0002-0736-9199, PMID:24079682] synonym: "Higher than normal levels of lactate in blood" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Increased blood lactate" EXACT [] xref: UMLS:C1836440 is_a: HP:0001941 ! Acidosis [Term] id: HP:0002152 name: Hyperproteinemia def: "An increased concentration of proteins in the blood." [HPO_CONTRIBUTOR:gcarletti] xref: SNOMEDCT_US:37064009 xref: UMLS:C0267988 is_a: HP:0010876 ! Abnormal circulating protein concentration [Term] id: HP:0002153 name: Hyperkalemia def: "An abnormally increased potassium concentration in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Elevated serum potassium levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006947 xref: SNOMEDCT_US:14140009 xref: SNOMEDCT_US:166689004 xref: SNOMEDCT_US:238142003 xref: UMLS:C0020461 is_a: HP:0011042 ! Abnormal blood potassium concentration [Term] id: HP:0002154 name: Hyperglycinemia def: "An elevated concentration of glycine in the blood." [HPO_CONTRIBUTOR:gcarletti, PMID:16902722, PMID:4696900] comment: Normal blood glycine levels are around 200-250 micromole per liter. synonym: "Elevated blood glycine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Hyperglycinaemia" EXACT [] xref: SNOMEDCT_US:64654004 xref: UMLS:C0268559 is_a: HP:0010895 ! Abnormal circulating glycine concentration [Term] id: HP:0002155 name: Hypertriglyceridemia alt_id: HP:0003082 alt_id: HP:0008174 alt_id: HP:0008332 def: "An abnormal increase in the level of triglycerides in the blood." [https://orcid.org/0000-0002-0736-9199] synonym: "Increased circulating Tg levels" EXACT abbreviation [] synonym: "Increased plasma Tg levels" EXACT abbreviation [] synonym: "Increased plasma triglycerides" EXACT layperson [] synonym: "Increased serum triglycerides" EXACT layperson [] synonym: "Increased triglycerides" EXACT layperson [] xref: UMLS:C1522137 is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0002156 name: Homocystinuria def: "An increased concentration of homocystine in the urine." [HPO_CONTRIBUTOR:gcarletti] comment: Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. synonym: "High urine homocystine levels" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006712 xref: SNOMEDCT_US:11282001 xref: UMLS:C0019880 is_a: HP:0033095 ! Increased sulfur amino acid level in urine [Term] id: HP:0002157 name: Azotemia def: "An increased concentration of nitrogen compounds in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. synonym: "Azotaemia" EXACT [] xref: MSH:D053099 xref: SNOMEDCT_US:445009001 xref: UMLS:C0242528 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0002159 name: Heparan sulfate excretion in urine def: "An increased concentration of heparan sulfates in the urine." [https://orcid.org/0000-0002-0736-9199] synonym: "Heparan sulphate excretion in urine" EXACT uk_spelling [] xref: UMLS:C1854827 is_a: HP:0008155 ! Mucopolysacchariduria [Term] id: HP:0002160 name: Hyperhomocystinemia def: "An increased concentration of homocystine in the blood." [HPO_CONTRIBUTOR:gcarletti] comment: Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). 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: MSH:D020167 xref: SNOMEDCT_US:58558003 xref: UMLS:C0268553 is_a: HP:0010908 ! Abnormal circulating lysine concentration [Term] id: HP:0002162 name: Low posterior hairline def: "Hair on the neck extends more inferiorly than usual." [PMID:19125436] comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. subset: hposlim_core synonym: "Low hairline at back of neck" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Low posterior hair line" EXACT [] xref: UMLS:C1855728 is_a: HP:0025668 ! Abnormal neck morphology is_a: HP:0030141 ! Abnormality of the posterior hairline [Term] id: HP:0002164 name: Nail dysplasia alt_id: HP:0001793 alt_id: HP:0001794 alt_id: HP:0001797 alt_id: HP:0008387 alt_id: HP:0008403 alt_id: HP:0008409 alt_id: HP:0008412 def: "The presence of developmental dysplasia of the nail." [https://orcid.org/0000-0002-0736-9199] synonym: "Atypical nail growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Dysplastic nails" EXACT [] synonym: "Onychodysplasia" EXACT [] xref: UMLS:C1834405 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002165 name: Pterygium of nails def: "Inward advance of skin over the nail plate." [https://orcid.org/0000-0002-0736-9199] synonym: "Nail pterygium" EXACT [] xref: SNOMEDCT_US:110987009 xref: UMLS:C0406438 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002166 name: Impaired vibration sensation in the lower limbs def: "A decrease in the ability to perceive vibration in the legs." [https://orcid.org/0000-0002-0736-9199] synonym: "Decreased lower limb vibratory sense" EXACT layperson [] synonym: "Decreased vibratory sense in lower limbs" EXACT layperson [] synonym: "Decreased vibratory sense in the lower extremities" EXACT layperson [] synonym: "Decreased vibratory sense in the lower limbs" EXACT layperson [] synonym: "Diminished vibratory sensation in the legs" EXACT layperson [] synonym: "Distal sensory loss, especially vibratory sense" EXACT [] synonym: "Distal vibratory impairment of the lower limbs" EXACT [] synonym: "Impaired vibration sensation in the lower limbs" EXACT layperson [] xref: UMLS:C1849134 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0002167 name: Abnormality of speech or vocalization def: "Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering." [] synonym: "Abnormal speech" EXACT [] synonym: "Abnormal vocalisation" EXACT uk_spelling [] synonym: "Abnormal vocalization" EXACT [] xref: MSH:D013064 xref: UMLS:C0037822 is_a: HP:0034434 ! Abnormal communication property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-2592-4715 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-9593-5508 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0002168 name: Scanning speech def: "An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly." [PMID:16247074] synonym: "Explosive speech" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:102935005 xref: SNOMEDCT_US:77420001 xref: UMLS:C0278184 xref: UMLS:C0522198 is_a: HP:0002167 ! Abnormality of speech or vocalization [Term] id: HP:0002169 name: Clonus def: "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [https://orcid.org/0000-0002-0736-9199] comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. synonym: "Involuntary rhythmic muscular contractions and relaxations" EXACT [http://purl.obolibrary.org/obo/hp#layperson, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:36649002 xref: UMLS:C0009024 is_a: HP:0001347 ! Hyperreflexia is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002170 name: Intracranial hemorrhage def: "Hemorrhage occurring within the skull." [HPO_CONTRIBUTOR:gcarletti] synonym: "Bleeding within the skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Intracranial haemorrhage" EXACT uk_spelling [] xref: MSH:D020300 xref: SNOMEDCT_US:1386000 xref: UMLS:C0151699 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0100659 ! Abnormal cerebral vascular morphology [Term] id: HP:0002171 name: Gliosis def: "Gliosis is the focal proliferation of glial cells in the central nervous system." [https://orcid.org/0009-0006-4530-3154] comment: Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. synonym: "Cerebral gliosis" EXACT [] synonym: "Excess astrocytes in brain" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D005911 xref: SNOMEDCT_US:359580009 xref: SNOMEDCT_US:81415000 xref: UMLS:C0017639 is_a: HP:0100705 ! Abnormal glial cell morphology [Term] id: HP:0002172 name: Postural instability def: "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps." [PMID:25613349] synonym: "Abnormal retropulsion test" RELATED [] synonym: "Balance impairment" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Imbalance" RELATED [] xref: UMLS:C1843921 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002173 name: Hypoglycemic seizures xref: UMLS:C0877056 is_a: HP:0001943 ! Hypoglycemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002174 name: Postural tremor alt_id: HP:0006925 alt_id: HP:0007197 def: "A type of tremors that is triggered by holding a limb in a fixed position." [https://orcid.org/0000-0002-0736-9199] synonym: "Tremor, postural" RELATED [https://orcid.org/0000-0002-5316-1399] xref: MSH:D014202 xref: SNOMEDCT_US:56610005 xref: UMLS:C0234378 is_a: HP:0002345 ! Action tremor [Term] id: HP:0002176 name: Spinal cord compression def: "External mechanical compression of the spinal cord." [https://orcid.org/0000-0002-0736-9199] comment: Clinical abnormalities vary according to the site of the compression 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: MSH:D013117 xref: SNOMEDCT_US:71286001 xref: UMLS:C0037926 is_a: HP:0002143 ! Abnormal spinal cord morphology [Term] id: HP:0002179 name: Opisthotonus comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. {xref="PMID:29972427"} synonym: "Opisthotonos" EXACT [] xref: SNOMEDCT_US:8652009 xref: UMLS:C0151818 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002180 name: Neurodegeneration def: "Progressive loss of neural cells and tissue." [https://orcid.org/0000-0002-0736-9199] synonym: "Neuro-degenerative disease" RELATED [] synonym: "Neurodegenerative disease" RELATED [] synonym: "Ongoing loss of nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Progressive neurodegenerative disorder" RELATED [] xref: MSH:D009410 xref: MSH:D019636 xref: UMLS:C0027746 xref: UMLS:C0524851 xref: UMLS:C4020854 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002181 name: Cerebral edema def: "Abnormal accumulation of fluid in the brain." [https://orcid.org/0000-0002-0736-9199] comment: Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. synonym: "Brain edema" EXACT [] synonym: "Brain oedema" EXACT [] synonym: "Brain swelling" BROAD layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Cerebral oedema" EXACT uk_spelling [] synonym: "Swelling of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D001929 xref: SNOMEDCT_US:2032001 xref: UMLS:C0006114 xref: UMLS:C1527311 is_a: HP:0000969 ! Edema is_a: HP:0002060 ! Abnormal cerebral morphology [Term] id: HP:0002183 name: Phonophobia def: "An abnormally heightened sensitivity to loud sounds." [] comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. synonym: "Fear of loud sounds" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8430-6039, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://orcid.org/0000-0002-4422-1708, https://orcid.org/0000-0003-3777-1389] xref: MSH:D012001 xref: SNOMEDCT_US:313387002 xref: UMLS:C0751466 is_a: HP:5200060 ! Auditory hypersensitivity property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0001-8430-6039 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-0736-9199 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4142-7153 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0002-4422-1708 property_value: http://purl.org/dc/terms/contributor https://orcid.org/0000-0003-3777-1389 [Term] id: HP:0002185 name: Neurofibrillary tangles alt_id: HP:0003132 alt_id: HP:0007070 def: "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [https://orcid.org/0009-0006-4530-3154] synonym: "Neurofibrillary tangles composed of disordered microtubules in neurons" EXACT [] synonym: "Paired helical filaments" EXACT [] xref: MSH:D016874 xref: SNOMEDCT_US:85775002 xref: UMLS:C0085400 is_a: HP:0100314 ! Cerebral inclusion bodies [Term] id: HP:0002186 name: Apraxia def: "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [] synonym: "Apraxias" RELATED [] xref: MSH:D001072 xref: SNOMEDCT_US:68345001 xref: SNOMEDCT_US:6950007 xref: UMLS:C0003635 is_a: HP:0011442 ! Abnormal central motor function [Term] id: HP:0002187 name: Intellectual disability, profound def: "Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [https://orcid.org/0000-0002-0736-9199] comment: Persons with profound mental retardation generally require constant care. synonym: "IQ less than 20" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability] synonym: "Mental retardation, profound" EXACT [] synonym: "Profound mental retardation" EXACT [] xref: MSH:D008607 xref: SNOMEDCT_US:31216003 xref: UMLS:C0020796 xref: UMLS:C3161330 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002188 name: Delayed CNS myelination alt_id: HP:0005770 alt_id: HP:0006974 alt_id: HP:0007300 def: "Delayed myelination in the central nervous system." [https://orcid.org/0000-0002-0736-9199] comment: A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. synonym: "Delay in central nervous system myelination" EXACT [] xref: UMLS:C4021758 is_a: HP:0011400 ! Abnormal CNS myelination is_a: HP:0012448 ! Delayed myelination [Term] id: HP:0002189 name: obsolete Excessive daytime sleepiness is_obsolete: true replaced_by: HP:0001262 [Term] id: HP:0002190 name: Choroid plexus cyst def: "A cyst occurring within the choroid plexus within a cerebral ventricle." [https://orcid.org/0000-0002-0736-9199] comment: Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. xref: SNOMEDCT_US:230790004 xref: UMLS:C0338597 is_a: HP:0007376 ! Abnormal choroid plexus morphology [Term] id: HP:0002191 name: Progressive spasticity def: "Spasticity that increases in degree with time." [https://orcid.org/0000-0002-0736-9199] synonym: "Spasticity, progressive" EXACT [] xref: UMLS:C1859520 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002193 name: Pseudobulbar behavioral symptoms def: "Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [https://orcid.org/0009-0006-4530-3154] synonym: "Pseudobulbar behavioural symptoms" EXACT uk_spelling [] xref: UMLS:C4025720 is_a: HP:0000708 ! Atypical behavior is_a: HP:0002200 ! Pseudobulbar signs [Term] id: HP:0002194 name: Delayed gross motor development alt_id: HP:0006905 alt_id: HP:0007046 alt_id: HP:0008973 def: "A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [https://orcid.org/0000-0002-0736-9199] synonym: "Delayed gross motor skills" EXACT [] synonym: "Delayed motor skills" EXACT layperson [] synonym: "Developmental delay, gross motor" EXACT [] synonym: "Gross motor delay" EXACT [] synonym: "Limited gross motor development" EXACT [] xref: SNOMEDCT_US:430099007 xref: UMLS:C1837658 is_a: HP:0001270 ! Motor delay [Term] id: HP:0002195 name: Dysgenesis of the cerebellar vermis def: "Defective development of the vermis of cerebellum." [https://orcid.org/0000-0002-0736-9199] comment: Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography. xref: UMLS:C4025719 is_a: HP:0002334 ! Abnormal cerebellar vermis morphology [Term] id: HP:0002196 name: Myelopathy xref: MSH:D013118 xref: SNOMEDCT_US:48522003 xref: UMLS:C0037928 is_a: HP:0002143 ! Abnormal spinal cord morphology is_a: HP:0034238 ! Closed neural tube defect [Term] id: HP:0002197 name: Generalized-onset seizure alt_id: HP:0002409 alt_id: HP:0007114 alt_id: HP:0007339 def: "A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex." [https://orcid.org/0000-0002-0736-9199, PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064, PMID:6790275] comment: in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. synonym: "Generalised onset seizure" EXACT uk_spelling [] synonym: "Generalised seizures" EXACT uk_spelling [] synonym: "Generalised-onset seizure" EXACT uk_spelling [] synonym: "Generalized onset seizure" EXACT [] synonym: "Generalized seizures" EXACT plural_form [] synonym: "Generalized-onset seizures" EXACT plural_form [] synonym: "Primary generalised seizure" EXACT uk_spelling [] synonym: "Primary generalized seizure" EXACT [] xref: MSH:D012640 xref: SNOMEDCT_US:246545002 xref: UMLS:C0234533 xref: UMLS:C1833488 is_a: HP:0001250 ! Seizure [Term] id: HP:0002198 name: Dilated fourth ventricle alt_id: HP:0007223 def: "An abnormal dilatation of the fourth cerebral ventricle." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged fourth ventricle" EXACT [] xref: UMLS:C1847117 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0010950 ! Abnormal fourth ventricle morphology [Term] id: HP:0002199 name: Hypocalcemic seizures synonym: "Low calcium seizures" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Seizures due to hypocalcemia" EXACT [] xref: UMLS:C1855841 is_a: HP:0002901 ! Hypocalcemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002200 name: Pseudobulbar signs def: "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [https://orcid.org/0009-0006-4530-3154] synonym: "Pseudobulbar symptoms" EXACT [] xref: UMLS:C1838579 is_a: HP:0012638 ! Abnormal nervous system physiology [Term] id: HP:0002202 name: Pleural effusion def: "The presence of an excessive amount of fluid in the pleural cavity." [https://orcid.org/0000-0002-0736-9199] synonym: "Fluid around lungs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D010996 xref: SNOMEDCT_US:60046008 xref: UMLS:C0032227 is_a: HP:0000969 ! Edema is_a: HP:0002103 ! Abnormal pleura morphology [Term] id: HP:0002203 name: Respiratory paralysis def: "Inability to move the muscles of respiration." [https://orcid.org/0000-0002-0736-9199] xref: MSH:D012133 xref: SNOMEDCT_US:64228003 xref: UMLS:C0035232 is_a: HP:0003470 ! Paralysis is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002204 name: Pulmonary embolism def: "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." [] synonym: "Blood clot in artery of lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D011655 xref: SNOMEDCT_US:59282003 xref: UMLS:C0034065 is_a: HP:0030875 ! Abnormality of pulmonary circulation [Term] id: HP:0002205 name: Recurrent respiratory infections alt_id: HP:0002782 alt_id: HP:0002873 def: "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [https://orcid.org/0000-0002-0736-9199] synonym: "Frequent respiratory infections" EXACT layperson [] synonym: "Multiple respiratory infections" EXACT layperson [] synonym: "Recurrent respiratory infections" EXACT layperson [] synonym: "respiratory infections, recurrent" EXACT layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Susceptibility to respiratory infections" EXACT layperson [] xref: UMLS:C3806482 is_a: HP:0002719 ! Recurrent infections is_a: HP:0011947 ! Respiratory tract infection [Term] id: HP:0002206 name: Pulmonary fibrosis alt_id: HP:0006523 def: "Replacement of normal lung tissues by fibroblasts and collagen." [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199] comment: Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. xref: MSH:D011658 xref: SNOMEDCT_US:51615001 xref: UMLS:C0034069 is_a: HP:0006530 ! Abnormal pulmonary interstitial morphology [Term] id: HP:0002207 name: Diffuse reticular or finely nodular infiltrations xref: UMLS:C1843428 is_a: HP:0002113 ! Pulmonary infiltrates [Term] id: HP:0002208 name: Coarse hair alt_id: HP:0200078 def: "Hair shafts are rough in texture." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Coarse hair" EXACT layperson [] synonym: "Coarse hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Rough hair texture" BROAD layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:48610005 xref: UMLS:C0277959 xref: UMLS:C4072834 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002209 name: Sparse scalp hair alt_id: HP:0002233 alt_id: HP:0002556 alt_id: HP:0004526 alt_id: HP:0004534 alt_id: HP:0004541 alt_id: HP:0004542 alt_id: HP:0004772 alt_id: HP:0004774 alt_id: HP:0004775 alt_id: HP:0004782 def: "Decreased number of hairs per unit area of skin of the scalp." [PMID:19125436, PMID:28061825] comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. synonym: "Decreased number of scalp follicles" EXACT [] synonym: "Hypotrichosis on scalp" EXACT [] synonym: "Reduced amount of scalp hair" EXACT layperson [] synonym: "Reduced/lack of hair on scalp" EXACT layperson [https://orcid.org/0000-0001-6908-9849] synonym: "Reduction in the number of scalp follicles" EXACT [] synonym: "Scalp hypotrichosis" EXACT [] synonym: "Sparse scalp hair" EXACT layperson [] synonym: "Thin scalp hair" RELATED layperson [] synonym: "Thinning scalp hair" EXACT layperson [] xref: UMLS:C1857042 xref: UMLS:C1873509 is_a: HP:0008070 ! Sparse hair is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002211 name: White forelock def: "A triangular depigmented region of white hairs located in the anterior midline of the scalp." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Poliosis of anterior hair" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "Poliosis of forelock hair" EXACT [https://orcid.org/0000-0001-5889-4463] synonym: "White part of hair above forehead" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:247564004 xref: UMLS:C0344312 is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002212 name: Curly hair synonym: "Curly hair" EXACT layperson [] xref: SNOMEDCT_US:225570000 xref: UMLS:C0558165 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002213 name: Fine hair alt_id: HP:0200132 def: "Hair that is fine or thin to the touch." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Fine hair" EXACT layperson [] synonym: "Fine hair shaft" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Fine hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin hair" EXACT [] synonym: "Thin hair shaft" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thin hair texture" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Thinned hair" EXACT [] xref: SNOMEDCT_US:247546006 xref: UMLS:C0423867 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002215 name: Sparse axillary hair alt_id: HP:0004514 alt_id: HP:0004518 alt_id: HP:0004545 def: "Reduced number or density of axillary hair." [https://orcid.org/0000-0002-0736-9199] synonym: "Limited armpit hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Little underarm hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Sparse axillary and pubic hair" BROAD [] synonym: "Sparse scalp, axillary, and pubic hair" BROAD [] synonym: "sparse to absent axillary hair" EXACT [] xref: UMLS:C1858574 is_a: HP:0008070 ! Sparse hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002216 name: Premature graying of hair def: "Development of gray hair at a younger than normal age." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Early graying" EXACT layperson [] synonym: "Early greying" EXACT uk_spelling [] synonym: "Premature graying" EXACT layperson [] synonym: "Premature graying of hair" EXACT layperson [] synonym: "Premature graying of the hair" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Premature greying" EXACT layperson [] synonym: "Premature greying of hair" EXACT uk_spelling [] synonym: "Premature greying of the hair" RELATED uk_spelling [] synonym: "Premature hair graying" EXACT layperson [] synonym: "Premature hair greying" EXACT uk_spelling [] xref: SNOMEDCT_US:387833009 xref: UMLS:C0263498 is_a: HP:0007495 ! Prematurely aged appearance is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002217 name: Slow-growing hair alt_id: HP:0004767 alt_id: HP:0004770 alt_id: HP:0004781 def: "Hair whose growth is slower than normal." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Slow growing hair" EXACT layperson [] synonym: "Slow rate of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Slow speed of hair growth" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Slow-growing hair" EXACT layperson [] xref: UMLS:C1832348 is_a: HP:0011363 ! Abnormality of hair growth rate [Term] id: HP:0002218 name: Silver-gray hair def: "Hypopigmented hair that appears silver-gray." [https://orcid.org/0000-0002-0736-9199] synonym: "Silver-gray hair" EXACT layperson [] synonym: "Silver-gray hair color" EXACT layperson [] synonym: "Silver-gray hair colour" EXACT uk_spelling [] synonym: "Silvery-gray hair" EXACT layperson [] xref: UMLS:C1836576 is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002219 name: Facial hypertrichosis def: "Excessive, increased hair growth located in the facial region." [] synonym: "Increased facial hair growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:C565029 xref: UMLS:C1851400 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0002220 name: Melanin pigment aggregation in hair shafts xref: UMLS:C1843390 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002221 name: Absent axillary hair alt_id: HP:0004549 def: "Absence of axillary hair." [https://orcid.org/0000-0002-0736-9199] xref: UMLS:C1859392 is_a: HP:0002298 ! Absent hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002223 name: Absent eyebrow def: "Absence of the eyebrow." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absent eyebrow" EXACT layperson [] synonym: "Absent eyebrows" EXACT [] synonym: "Agenesis of eyebrows" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Aplasia of eyebrows" NARROW [https://orcid.org/0000-0001-5889-4463] synonym: "Failure of development of eyebrows" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Loss of eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Missing eyebrows" NARROW layperson [https://orcid.org/0000-0001-5889-4463] xref: SNOMEDCT_US:253208007 xref: SNOMEDCT_US:422441003 xref: UMLS:C0431448 xref: UMLS:C0578682 xref: UMLS:C4280581 xref: UMLS:C4280582 is_a: HP:0002298 ! Absent hair is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow [Term] id: HP:0002224 name: Woolly hair def: "The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter." [PMID:20464096] comment: See figures in PMID:20464096. subset: hposlim_core synonym: "Afro-textured hair" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Kinked hair" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Kinky hair texture" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Nappy hair texture" BROAD layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Wooly hair" EXACT [] xref: MEDDRA:10048017 "Wooly hair" xref: SNOMEDCT_US:52564001 xref: UMLS:C0343073 xref: UMLS:C4072835 xref: UMLS:C4072836 xref: UMLS:C4073292 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002225 name: Sparse pubic hair alt_id: HP:0004778 def: "Reduced number or density of pubic hair." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Decreased sexual hair" EXACT layperson [] synonym: "Sparse pubic hair" EXACT layperson [] synonym: "sparse to absent pubic hair" EXACT [] xref: UMLS:C1858573 is_a: HP:0008070 ! Sparse hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002226 name: White eyebrow alt_id: HP:0002228 alt_id: HP:0004536 def: "White color (lack of pigmentation) of the eyebrow." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Blonde eyebrow" RELATED layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depigmented eyebrow" EXACT [] synonym: "Grey eyebrow" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Hypopigmented eyebrow" EXACT [] synonym: "Pale eyebrow" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "White eyebrow" EXACT layperson [] xref: UMLS:C1836737 xref: UMLS:C4280579 xref: UMLS:C4280580 is_a: HP:0000534 ! Abnormal eyebrow morphology is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002227 name: White eyelashes def: "White color (lack of pigmentation) of the eyelashes." [https://orcid.org/0000-0003-1773-4011] synonym: "Blonde eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Depigmented eyelashes" EXACT [] synonym: "Grey eyelashes" NARROW layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Pale eyelashes" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "White eyelashes" EXACT layperson [] xref: UMLS:C1836736 xref: UMLS:C4280578 is_a: HP:0000499 ! Abnormal eyelash morphology is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002229 name: obsolete Alopecia areata is_obsolete: true replaced_by: HP:0002232 [Term] id: HP:0002230 name: Generalized hirsutism def: "Abnormally increased hair growth over much of the entire body." [https://orcid.org/0000-0002-0736-9199] synonym: "Excessive hairiness over body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Generalised hirsutism" EXACT uk_spelling [] xref: UMLS:C1849211 is_a: HP:0001007 ! Hirsutism [Term] id: HP:0002231 name: Sparse body hair def: "Sparseness of the body hair." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Limited body hair" EXACT [] synonym: "Little body hair" EXACT [] synonym: "Sparse body hair" EXACT layperson [] synonym: "Sparse to absent body hair" EXACT [] xref: UMLS:C1862863 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002232 name: Patchy alopecia alt_id: HP:0002229 def: "Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches." [] synonym: "Alopecia areata" EXACT [] synonym: "Patchy baldness" EXACT layperson [] xref: MSH:C531609 xref: MSH:D000506 xref: SNOMEDCT_US:68225006 xref: UMLS:C0002171 xref: UMLS:C1862862 is_a: HP:0001596 ! Alopecia is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002234 name: Early balding def: "Loss of scalp hair at an earlier than normal age." [https://orcid.org/0000-0002-0736-9199] synonym: "Early balding" EXACT layperson [] xref: UMLS:C4025718 is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002235 name: Pili canaliculi alt_id: HP:0002285 def: "A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy." [https://orcid.org/0000-0002-0736-9199, PMID:8274794] xref: UMLS:C1860608 is_a: HP:0003328 ! Abnormal hairshaft morphology [Term] id: HP:0002236 name: Frontal upsweep of hair def: "Upward and/or sideward growth of anterior hair." [PMID:19125436] subset: hposlim_core synonym: "Cowlick" EXACT layperson [] synonym: "Frontal Cowlick" EXACT layperson [https://orcid.org/0000-0001-5889-4463] synonym: "Frontal upsweep of hair" EXACT layperson [] synonym: "Upswept frontal hair" EXACT layperson [] synonym: "Upswept frontal hair pattern" RELATED layperson [https://orcid.org/0000-0002-5316-1399] synonym: "Upswept frontal hairline" RELATED layperson [https://orcid.org/0000-0002-5316-1399] xref: UMLS:C1185616 xref: UMLS:C2675540 xref: UMLS:C3275754 is_a: HP:0010721 ! Abnormal hair whorl [Term] id: HP:0002239 name: Gastrointestinal hemorrhage def: "Hemorrhage affecting the gastrointestinal tract." [https://orcid.org/0000-0002-0736-9199] synonym: "Gastrointestinal bleeding" EXACT layperson [] synonym: "Gastrointestinal haemorrhage" EXACT uk_spelling [] synonym: "GI haemorrhage" EXACT uk_spelling [] synonym: "GI hemorrhage" EXACT abbreviation [] xref: MSH:D006471 xref: SNOMEDCT_US:74474003 xref: UMLS:C0017181 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0002240 name: Hepatomegaly alt_id: HP:0001393 alt_id: HP:0001398 def: "Abnormally increased size of the liver." [https://orcid.org/0000-0002-0736-9199] synonym: "Enlarged liver" EXACT layperson [] xref: MSH:D006529 xref: SNOMEDCT_US:80515008 xref: UMLS:C0019209 is_a: HP:0003271 ! Visceromegaly is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0002242 name: Abnormal intestine morphology alt_id: HP:0002628 def: "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the intestine" EXACT layperson [] synonym: "Enteropathy" EXACT [] xref: MSH:D007410 xref: SNOMEDCT_US:85919009 xref: UMLS:C0021831 is_a: HP:0012718 ! 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: MSH:D011504 xref: SNOMEDCT_US:22542007 xref: SNOMEDCT_US:66972006 xref: UMLS:C0033680 is_a: HP:0002244 ! Abnormal small intestine morphology [Term] id: HP:0002244 name: Abnormal small intestine morphology def: "A structural abnormality of the small intestine." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormality of the small intestine" EXACT [] xref: UMLS:C4025717 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002245 name: Meckel diverticulum def: "Meckel's diverticulum is a congenital diverticulum located in the distal ileum." [https://orcid.org/0000-0002-0736-9199] xref: MEDDRA:10027055 "Meckel's diverticulum" xref: MSH:D008467 xref: SNOMEDCT_US:127962001 xref: SNOMEDCT_US:37373007 xref: UMLS:C0025037 is_a: HP:0001549 ! Abnormal ileum morphology [Term] id: HP:0002246 name: Abnormal duodenum morphology def: "An abnormality of the duodenum, i.e., the first section of the small intestine." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Abnormality of the duodenum" EXACT [] xref: UMLS:C4025716 is_a: HP:0002244 ! Abnormal small intestine morphology [Term] id: HP:0002247 name: Duodenal atresia def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Absence or narrowing of first part of small bowel" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:4406 xref: MEDDRA:10013812 "Duodenal atresia" xref: MSH:C535720 xref: SNOMEDCT_US:51118003 xref: UMLS:C0266174 is_a: HP:0002246 ! Abnormal duodenum morphology is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0002248 name: Hematemesis def: "The vomiting of blood." [https://orcid.org/0000-0002-0736-9199] comment: The source of hematemesis is generally the upper gastrointestinal tract. synonym: "Vomitting blood" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: MSH:D006396 xref: SNOMEDCT_US:8765009 xref: UMLS:C0018926 is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002249 name: Melena def: "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [https://orcid.org/0000-0002-0736-9199] synonym: "Black faeces" NARROW uk_spelling [] synonym: "Black feces" NARROW layperson [https://orcid.org/0000-0001-6908-9849] xref: MSH:D008551 xref: SNOMEDCT_US:249627005 xref: SNOMEDCT_US:267055007 xref: SNOMEDCT_US:269899009 xref: SNOMEDCT_US:2901004 xref: SNOMEDCT_US:35064005 xref: UMLS:C0025222 xref: UMLS:C0474585 is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0025085 ! Bloody diarrhea [Term] id: HP:0002250 name: Abnormal large intestine morphology def: "Any abnormality of the large intestine." [https://orcid.org/0000-0002-0736-9199] comment: The large intestine comprises the cecum and colon. synonym: "Abnormality of the large intestine" EXACT layperson [] xref: UMLS:C4025715 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002251 name: Aganglionic megacolon alt_id: HP:0002029 alt_id: HP:0002030 alt_id: HP:0002606 alt_id: HP:0004391 def: "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [https://orcid.org/0000-0002-0736-9199, PMID:17965226] comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. subset: hposlim_core synonym: "Congenital megacolon" EXACT [] synonym: "Enlarged colon lacking nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hirschsprung disease" RELATED [] synonym: "Hirschsprung megacolon" EXACT [] synonym: "Megacolon" EXACT [] xref: MEDDRA:10027110 "Megacolon" xref: MSH:D006627 xref: MSH:D008531 xref: SNOMEDCT_US:204739008 xref: SNOMEDCT_US:33995003 xref: SNOMEDCT_US:367495003 xref: UMLS:C0019569 xref: UMLS:C0025160 is_a: HP:0004362 ! Abnormal enteric ganglion morphology [Term] id: HP:0002253 name: Colonic diverticula alt_id: HP:0005860 def: "The presence of multiple diverticula of the colon." [https://orcid.org/0000-0002-0736-9199] subset: hposlim_core synonym: "Colon diverticula" RELATED [] synonym: "Colonic diverticulosis" EXACT [] xref: MEDDRA:10009993 "Colonic diverticulosis" xref: MSH:D004241 xref: MSH:D043963 xref: SNOMEDCT_US:398050005 xref: UMLS:C0012811 xref: UMLS:C0012819 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002254 name: Intermittent diarrhea def: "Repeated episodes of diarrhea separated by periods without diarrhea." [] synonym: "Episodic diarrhea" EXACT [] synonym: "Episodic diarrhoea" EXACT uk_spelling [] synonym: "Intermittent diarrhoea" EXACT uk_spelling [] xref: UMLS:C0239181 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002256 name: Small bowel diverticula subset: hposlim_core xref: MEDDRA:10013533 "Diverticula of small intestine" xref: SNOMEDCT_US:8114009 xref: UMLS:C0267498 is_a: HP:0002244 ! Abnormal small intestine morphology is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002257 name: Chronic rhinitis def: "Chronic inflammation of the nasal mucosa." [https://orcid.org/0000-0002-0736-9199] xref: SNOMEDCT_US:86094006 xref: UMLS:C0008711 is_a: HP:0012384 ! Rhinitis [Term] id: HP:0002263 name: Exaggerated cupid's bow def: "More pronounced paramedian peaks and median notch of the Cupid's bow." [PMID:19125428] comment: This may be associated with a Deep philtrum, but that finding should be coded separately. subset: hposlim_core synonym: "Cupid bow upper lip" EXACT layperson [] synonym: "Cupid's bow, accentuated" EXACT [] synonym: "Cupid-bow shaped upper lip" EXACT layperson [] synonym: "Exaggerated cupid's bow" EXACT layperson [] synonym: "Prominent cupid-bow of upper lip" EXACT layperson [] xref: UMLS:C1850629 is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0002265 name: Large fleshy ears synonym: "Large fleshy ears" EXACT layperson [] xref: UMLS:C3808403 is_a: HP:0000400 ! Macrotia [Term] id: HP:0002266 name: Focal clonic seizure def: "A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] comment: The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). synonym: "Focal clonic seizures" EXACT plural_form [] synonym: "Localised clonic seizure" EXACT uk_spelling [] synonym: "Localized clonic seizure" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Partial clonic seizure" EXACT [https://orcid.org/0000-0001-6908-9849] synonym: "Segmental clonic seizure" EXACT [] xref: MSH:D020938 xref: UMLS:C0752323 is_a: HP:0011153 ! Focal motor seizure is_a: HP:0020221 ! Clonic seizure [Term] id: HP:0002267 name: Exaggerated startle response def: "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [https://orcid.org/0000-0002-0736-9199] synonym: "Exaggerated acoustic startle response" EXACT [] synonym: "Hyperekplexia" RELATED [] synonym: "Increased startle response" EXACT [] xref: MSH:D000071017 xref: SNOMEDCT_US:19557000 xref: UMLS:C0234166 xref: UMLS:C1740801 xref: UMLS:C1836014 xref: UMLS:C1848918 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002268 name: Paroxysmal dystonia alt_id: HP:0002412 def: "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." [https://orcid.org/0000-0002-0736-9199] synonym: "Episodic dystonia" EXACT [] xref: MSH:D004421 xref: SNOMEDCT_US:230310003 xref: UMLS:C0393588 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002269 name: Abnormality of neuronal migration alt_id: HP:0007317 def: "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [https://orcid.org/0000-0002-0736-9199] synonym: "Abnormal neuronal migration" EXACT [] synonym: "Het